Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter ZNF683 257101 broad.mit.edu 37 1 26688385 26688385 + Silent SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:26688385G>A uc001bmg.1 - 7 1450 c.1332C>T c.(1330-1332)CAC>CAT p.H444H ZNF683_uc001bmh.1_Silent_p.H424H|ZNF683_uc009vsj.1_Silent_p.H424H NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN zinc finger protein 683 444 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GCAGCCGATGGTGCAGCTTCA 0.667 13 21 --- --- --- --- PASS SFN 2810 broad.mit.edu 37 1 27190282 27190282 + Silent SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:27190282G>A uc001bnc.1 + 1 650 c.579G>A c.(577-579)CTG>CTA p.L193L uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 193 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) CCATCTCTCTGGCCAAGACCA 0.607 7 66 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144879369 144879369 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:144879369G>T uc001elw.3 - 27 4372 c.4081C>A c.(4081-4083)CTG>ATG p.L1361M NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1317M|PDE4DIP_uc001elv.3_Missense_Mutation_p.L368M NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1361 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGGGCCTTCAGATCTTTGATG 0.488 T PDGFRB MPD 19 124 --- --- --- --- PASS ANKRD34A 284615 broad.mit.edu 37 1 145473602 145473602 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:145473602G>T uc001enq.1 + 4 1567 c.274G>T c.(274-276)GCG>TCG p.A92S NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 92 ANK 3. 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGGGGGCGCCGCGGTGGCCTC 0.716 11 43 --- --- --- --- PASS PBX1 5087 broad.mit.edu 37 1 164761954 164761954 + Silent SNP G C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:164761954G>C uc001gct.2 + 3 747 c.489G>C c.(487-489)ACG>ACC p.T163T PBX1_uc010pku.1_Silent_p.T163T|PBX1_uc010pkv.1_Silent_p.T80T|PBX1_uc001gcs.2_Silent_p.T163T|PBX1_uc010pkw.1_Silent_p.T53T NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 163 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 TCTACCATACGGAGCTGGAGA 0.502 T TCF3|EWSR1 pre B-ALL|myoepithelioma 8 33 --- --- --- --- PASS TDRD5 163589 broad.mit.edu 37 1 179561770 179561770 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:179561770T>C uc001gnf.1 + 2 270 c.20T>C c.(19-21)ATA>ACA p.I7T TDRD5_uc010pnp.1_Missense_Mutation_p.I7T|uc010pno.1_5'Flank NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 7 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CAAGAGCGTATACAGGAATGT 0.448 42 127 --- --- --- --- PASS LAD1 3898 broad.mit.edu 37 1 201353941 201353941 + Missense_Mutation SNP G A A rs138044157 TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:201353941G>A uc001gwm.2 - 5 1389 c.1154C>T c.(1153-1155)TCG>TTG p.S385L LAD1_uc009wzu.1_Missense_Mutation_p.S407L NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 385 basement membrane structural molecule activity 0 GGTTGTTTCCGAGTTTTCTTT 0.542 7 185 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216011348 216011348 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:216011348C>A uc001hku.1 - 47 9743 c.9356G>T c.(9355-9357)CGT>CTT p.R3119L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3119 Extracellular (Potential).|Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGTGATGCCACGAATTGTGGG 0.393 HNSCC(13;0.011) 22 27 --- --- --- --- PASS ZNF238 10472 broad.mit.edu 37 1 244218490 244218490 + Nonsense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:244218490G>T uc001iae.2 + 1 1909 c.1387G>T c.(1387-1389)GAG>TAG p.E463* ZNF238_uc001iad.3_Nonsense_Mutation_p.E472*|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 463 negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|pancreas(2) 5 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) GCACACCCGCGAGAAGCCGCA 0.612 19 73 --- --- --- --- PASS VN1R5 317705 broad.mit.edu 37 1 247420223 247420223 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:247420223G>T uc010pyu.1 + 2 850 c.850G>T c.(850-852)GAC>TAC p.D284Y NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 284 Helical; Name=6; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) ATACTGGGTGGACTTTACGTT 0.493 14 158 --- --- --- --- PASS SLC3A1 6519 broad.mit.edu 37 2 44507894 44507894 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr2:44507894T>C uc002ruc.3 + 2 548 c.470T>C c.(469-471)ATA>ACA p.I157T SLC3A1_uc002rty.2_Missense_Mutation_p.I157T|SLC3A1_uc002rtz.2_Missense_Mutation_p.I157T|SLC3A1_uc002rua.2_Missense_Mutation_p.I157T|SLC3A1_uc002rub.2_Missense_Mutation_p.I157T NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 157 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) GCTTTAAATATAAAAACTGTT 0.313 10 18 --- --- --- --- PASS C2orf3 6936 broad.mit.edu 37 2 75919142 75919142 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr2:75919142C>T uc002sno.2 - 7 1235 c.1105G>A c.(1105-1107)GAA>AAA p.E369K C2orf3_uc010ffs.2_Intron|C2orf3_uc002snn.2_Missense_Mutation_p.E200K|C2orf3_uc010fft.2_Missense_Mutation_p.E44K NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 369 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TGTTTTAATTCATCTTGCCTG 0.299 4 3 --- --- --- --- PASS UGT1A7 54577 broad.mit.edu 37 2 234591377 234591377 + Missense_Mutation SNP T A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr2:234591377T>A uc002vut.2 + 1 794 c.794T>A c.(793-795)GTG>GAG p.V265E UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Missense_Mutation_p.V265E NM_019077 NP_061950 Q9HAW7 UD17_HUMAN UDP glycosyltransferase 1 family, polypeptide A7 265 drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCCAAACCCGTGATGCCCAAT 0.433 31 66 --- --- --- --- PASS METTL6 131965 broad.mit.edu 37 3 15466468 15466468 + Nonsense_Mutation SNP A T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:15466468A>T uc003bzs.1 - 3 612 c.354T>A c.(352-354)TAT>TAA p.Y118* METTL6_uc011avp.1_Intron|METTL6_uc003bzt.1_Nonsense_Mutation_p.Y118* NM_152396 NP_689609 Q8TCB7 METL6_HUMAN methyltransferase like 6 118 methyltransferase activity 0 CAACCTTAACATATTCAATGG 0.393 29 18 --- --- --- --- PASS BSN 8927 broad.mit.edu 37 3 49691576 49691576 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:49691576G>T uc003cxe.3 + 5 4701 c.4587G>T c.(4585-4587)ATG>ATT p.M1529I NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1529 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CATCACCTATGGTAGCCCAGG 0.612 42 32 --- --- --- --- PASS ROBO2 6092 broad.mit.edu 37 3 77651403 77651403 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:77651403C>T uc003dpy.3 + 20 3540 c.2897C>T c.(2896-2898)ACG>ATG p.T966M ROBO2_uc003dpz.2_Missense_Mutation_p.T970M|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.T970M|ROBO2_uc003dqa.2_Missense_Mutation_p.T93M NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 966 Cytoplasmic (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAAACAGCAACGATGCTCTCA 0.458 8 50 --- --- --- --- PASS ZXDC 79364 broad.mit.edu 37 3 126180727 126180727 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:126180727T>C uc003eiv.2 - 6 1832 c.1778A>G c.(1777-1779)CAG>CGG p.Q593R ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Missense_Mutation_p.Q593R NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN ZXD family zinc finger C isoform 1 593 Required for transcriptional activation. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.155) GAAGCTGCCCTGCTGCAGAAC 0.602 44 38 --- --- --- --- PASS SERPINI1 5274 broad.mit.edu 37 3 167510549 167510549 + Missense_Mutation SNP A G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:167510549A>G uc003ffa.3 + 4 851 c.653A>G c.(652-654)TAT>TGT p.Y218C SERPINI1_uc003ffb.3_Missense_Mutation_p.Y218C NM_001122752 NP_001116224 Q99574 NEUS_HUMAN neuroserpin precursor 218 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity skin(1) 1 CCAATGATGTATCAGCAAGGA 0.328 7 38 --- --- --- --- PASS ACTL6A 86 broad.mit.edu 37 3 179301162 179301162 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:179301162G>A uc003fjw.2 + 12 1221 c.1048G>A c.(1048-1050)GTG>ATG p.V350M ACTL6A_uc003fjx.2_Missense_Mutation_p.V308M|ACTL6A_uc003fjy.2_Missense_Mutation_p.V308M NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 350 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) CAGTGTAATAGTGGCAGGAGG 0.343 10 22 --- --- --- --- PASS PTPN13 5783 broad.mit.edu 37 4 87622769 87622769 + Missense_Mutation SNP C G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr4:87622769C>G uc003hpz.2 + 7 1490 c.1010C>G c.(1009-1011)CCT>CGT p.P337R PTPN13_uc003hpy.2_Missense_Mutation_p.P337R|PTPN13_uc003hqa.2_Missense_Mutation_p.P337R|PTPN13_uc003hqb.2_Missense_Mutation_p.P337R NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 337 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAACTACTCCTAGAAAAAAG 0.463 20 43 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123160881 123160881 + Silent SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr4:123160881T>C uc003ieh.2 + 27 4089 c.4044T>C c.(4042-4044)AGT>AGC p.S1348S KIAA1109_uc003iei.1_Silent_p.S1101S|KIAA1109_uc010ins.1_Silent_p.S691S|KIAA1109_uc003iek.2_5'UTR NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1348 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TCTCTCGAAGTGATGAGAATG 0.433 11 14 --- --- --- --- PASS FAT4 79633 broad.mit.edu 37 4 126373089 126373089 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr4:126373089G>A uc003ifj.3 + 9 10918 c.10918G>A c.(10918-10920)GAT>AAT p.D3640N FAT4_uc011cgp.1_Missense_Mutation_p.D1938N|FAT4_uc003ifi.1_Missense_Mutation_p.D1118N NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3640 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAAGCCACAGGATCCAGATGT 0.463 10 24 --- --- --- --- PASS CCDC111 201973 broad.mit.edu 37 4 185580549 185580549 + Missense_Mutation SNP T G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr4:185580549T>G uc003iwk.2 + 4 669 c.236T>G c.(235-237)CTT>CGT p.L79R CCDC111_uc010isd.1_RNA|CCDC111_uc003iwj.2_Missense_Mutation_p.L79R|CCDC111_uc003iwl.2_Missense_Mutation_p.L79R|CCDC111_uc003iwm.2_5'UTR|CCDC111_uc003iwn.2_5'UTR NM_152683 NP_689896 Q96LW4 CC111_HUMAN coiled-coil domain containing 111 79 DNA replication, synthesis of RNA primer DNA primase activity central_nervous_system(1) 1 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) CGTATTTACCTTGTGACAACC 0.368 14 24 --- --- --- --- PASS TRIML1 339976 broad.mit.edu 37 4 189065213 189065213 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr4:189065213G>T uc003izm.1 + 5 897 c.782G>T c.(781-783)TGT>TTT p.C261F TRIML1_uc003izn.1_5'UTR NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 261 multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TTGCTTCAGTGTCCAGAGGCC 0.547 21 26 --- --- --- --- PASS SLC9A3 6550 broad.mit.edu 37 5 480068 480068 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr5:480068G>T uc003jbe.2 - 10 1642 c.1530C>A c.(1528-1530)TTC>TTA p.F510L SLC9A3_uc011clx.1_Missense_Mutation_p.F501L|uc011cly.1_RNA NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 510 Cytoplasmic (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACTTCCTGTCGAAGTGGGACC 0.617 16 102 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7706958 7706958 + Missense_Mutation SNP A G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr5:7706958A>G uc003jdz.1 + 8 1278 c.1211A>G c.(1210-1212)GAT>GGT p.D404G ADCY2_uc011cmo.1_Missense_Mutation_p.D224G NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 404 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 TGGCAATATGATGTGTGGTCA 0.512 35 64 --- --- --- --- PASS MIER3 166968 broad.mit.edu 37 5 56219584 56219584 + Missense_Mutation SNP G C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr5:56219584G>C uc003jrd.1 - 12 1154 c.1129C>G c.(1129-1131)CGG>GGG p.R377G MIER3_uc003jqz.1_Missense_Mutation_p.R314G|MIER3_uc003jra.1_Missense_Mutation_p.R376G|MIER3_uc003jrb.1_Missense_Mutation_p.R201G|MIER3_uc003jrc.1_Missense_Mutation_p.R382G NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) GGCTCAGGCCGGTTAGAAGTT 0.423 20 8 --- --- --- --- PASS KIF3A 11127 broad.mit.edu 37 5 132039185 132039185 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr5:132039185T>C uc003kxo.2 - 10 1509 c.1355A>G c.(1354-1356)GAG>GGG p.E452G KIF3A_uc003kxm.2_Missense_Mutation_p.E34G|KIF3A_uc003kxn.2_Missense_Mutation_p.E437G|KIF3A_uc011cxf.1_Missense_Mutation_p.E479G|KIF3A_uc003kxp.2_Missense_Mutation_p.E455G NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 452 Potential. blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTCCCGTTTCTCTAATTCAGC 0.328 9 7 --- --- --- --- PASS PCDHB4 56131 broad.mit.edu 37 5 140502858 140502858 + Silent SNP G C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr5:140502858G>C uc003lip.1 + 1 1278 c.1278G>C c.(1276-1278)GGG>GGC p.G426G NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 426 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGACTTGGGGACACCCAGGC 0.542 51 36 --- --- --- --- PASS HLA-DPA1 3113 broad.mit.edu 37 6 33037649 33037649 + Missense_Mutation SNP T A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr6:33037649T>A uc003ocs.1 - 2 146 c.115A>T c.(115-117)ACT>TCT p.T39S HLA-DPA1_uc010juk.2_Missense_Mutation_p.T39S|HLA-DPA1_uc003oct.1_Missense_Mutation_p.T39S NM_033554 NP_291032 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP 39 Alpha-1.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity skin(1) 1 GCGGCATAAGTTGACACATGG 0.398 15 40 --- --- --- --- PASS VPS52 6293 broad.mit.edu 37 6 33235042 33235042 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr6:33235042G>A uc003odm.1 - 11 1258 c.1048C>T c.(1048-1050)CGC>TGC p.R350C VPS52_uc003odn.1_Intron NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 350 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 ACAGAGCCGCGGGTTCCTAGG 0.557 25 37 --- --- --- --- PASS TRDN 10345 broad.mit.edu 37 6 123588862 123588862 + Silent SNP A G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr6:123588862A>G uc003pzj.1 - 32 1795 c.1773T>C c.(1771-1773)TCT>TCC p.S591S TRDN_uc010kem.1_Silent_p.S92S NM_006073 NP_006064 Q13061 TRDN_HUMAN triadin 591 Lumenal. muscle contraction integral to membrane|plasma membrane|sarcoplasmic reticulum membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(226;0.184) CTGTTTTTATAGATGGAGGTT 0.269 3 1 --- --- --- --- PASS INHBA 3624 broad.mit.edu 37 7 41729508 41729508 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr7:41729508C>T uc003thq.2 - 2 1256 c.1021G>A c.(1021-1023)GCT>ACT p.A341T INHBA_uc003thr.2_Missense_Mutation_p.A341T NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 341 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 CCAGAGGGAGCAATGATCCAG 0.537 TSP Lung(11;0.080) 21 49 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82538245 82538245 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr7:82538245T>C uc003uhx.2 - 8 13674 c.13385A>G c.(13384-13386)AAA>AGA p.K4462R PCLO_uc003uhv.2_Missense_Mutation_p.K4462R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4393 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTCCGGCAGTTTTCGGTCCAG 0.423 4 14 --- --- --- --- PASS PCOLCE 5118 broad.mit.edu 37 7 100204242 100204242 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr7:100204242C>A uc003uvo.2 + 6 1127 c.929C>A c.(928-930)CCT>CAT p.P310H uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 310 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GAGGAATCTCCTTCAGCCCCT 0.512 4 41 --- --- --- --- PASS AKR1D1 6718 broad.mit.edu 37 7 137792169 137792169 + Missense_Mutation SNP T A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr7:137792169T>A uc003vtz.2 + 7 767 c.698T>A c.(697-699)GTT>GAT p.V233D AKR1D1_uc011kqe.1_Missense_Mutation_p.V233D|AKR1D1_uc011kqf.1_Missense_Mutation_p.V192D|AKR1D1_uc010lmy.1_RNA NM_005989 NP_005980 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 233 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding skin(1) 1 AGGGTGAATGTTTCTTCTCCA 0.378 13 19 --- --- --- --- PASS ADCK2 90956 broad.mit.edu 37 7 140373931 140373931 + Silent SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr7:140373931C>A uc003vvy.1 + 1 979 c.801C>A c.(799-801)CTC>CTA p.L267L ADCK2_uc003vvz.2_Silent_p.L267L NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 267 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity 0 Melanoma(164;0.00956) CAGAAAATCTCGCAGACCAGT 0.577 4 89 --- --- --- --- PASS DLGAP2 9228 broad.mit.edu 37 8 1497207 1497207 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:1497207C>A uc003wpl.2 + 2 445 c.348C>A c.(346-348)TTC>TTA p.F116L DLGAP2_uc003wpm.2_Missense_Mutation_p.F116L NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 195 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TGGACCAGTTCGAGAAGCAGC 0.697 5 3 --- --- --- --- PASS TNFRSF10B 8795 broad.mit.edu 37 8 22887122 22887122 + Splice_Site SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:22887122C>A uc003xcu.2 - 4 769 c.476_splice c.e4+1 p.G159_splice TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc003xct.2_Splice_Site_p.G159_splice|TNFRSF10B_uc011kzq.1_Splice_Site_p.G8_splice|TNFRSF10B_uc003xcv.2_Splice_Site_p.G57_splice NM_003842 NP_003833 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding 0 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) TCCTGTCTCACCCTGTGCGGC 0.592 10 16 --- --- --- --- PASS KIF13B 23303 broad.mit.edu 37 8 28988133 28988133 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:28988133G>T uc003xhh.3 - 24 3051 c.2992C>A c.(2992-2994)CAG>AAG p.Q998K uc003xhi.1_Intron NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 998 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TTCTCATTCTGTTCCAAGATT 0.403 10 25 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41845059 41845059 + Missense_Mutation SNP A G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:41845059A>G uc010lxb.2 - 4 1167 c.623T>C c.(622-624)ATC>ACC p.I208T MYST3_uc010lxc.2_Missense_Mutation_p.I208T|MYST3_uc003xon.3_Missense_Mutation_p.I208T|MYST3_uc010lxd.2_Missense_Mutation_p.I208T NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 208 PHD-type 1. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GAAACTACAGATGGGGATTGG 0.383 6 179 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763156 77763156 + Silent SNP T G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:77763156T>G uc003yav.2 + 10 4251 c.3864T>G c.(3862-3864)GGT>GGG p.G1288G ZFHX4_uc003yau.1_Silent_p.G1333G|ZFHX4_uc003yaw.1_Silent_p.G1288G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCATGGCAGGTCTCGAGGATT 0.368 HNSCC(33;0.089) 8 18 --- --- --- --- PASS LRRC6 23639 broad.mit.edu 37 8 133623603 133623603 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:133623603C>A uc003ytk.2 - 9 1055 c.981G>T c.(979-981)ATG>ATT p.M327I LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 327 CS. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AAGAGGTATCCATATACCTTC 0.299 3 11 --- --- --- --- PASS ZC3H3 23144 broad.mit.edu 37 8 144621138 144621138 + Silent SNP A C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr8:144621138A>C uc003yyd.2 - 2 428 c.399T>G c.(397-399)TCT>TCG p.S133S NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 133 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TGGCAGAGCCAGACTTTGATG 0.602 6 76 --- --- --- --- PASS C9orf128 392307 broad.mit.edu 37 9 35826091 35826091 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr9:35826091T>C uc010mlc.2 - 2 353 c.68A>G c.(67-69)AAG>AGG p.K23R C9orf128_uc003zyj.2_RNA|C9orf128_uc011lpg.1_Missense_Mutation_p.K23R NM_001012446 NP_001012448 A6H8Z2 CI128_HUMAN hypothetical protein LOC392307 23 0 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) AGAGGGGTCCTTTGAAGGGGG 0.502 OREG0019180 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 47 --- --- --- --- PASS FAM171A1 221061 broad.mit.edu 37 10 15255479 15255479 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr10:15255479G>A uc001iob.2 - 8 2115 c.2108C>T c.(2107-2109)CCG>CTG p.P703L NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 703 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CCGGGGGTGCGGAAGCGGCTT 0.567 31 37 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73491744 73491744 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr10:73491744G>A uc001jrx.3 + 31 4093 c.3716G>A c.(3715-3717)GGG>GAG p.G1239E CDH23_uc001jrz.2_Missense_Mutation_p.G855E|C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.G47E NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1239 Cadherin 12.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CCTCCTACAGGGGATGGTGGC 0.592 12 31 --- --- --- --- PASS JAKMIP3 282973 broad.mit.edu 37 10 133967422 133967422 + Silent SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr10:133967422G>T uc001lkx.3 + 18 2142 c.2142G>T c.(2140-2142)CTG>CTT p.L714L JAKMIP3_uc009yba.1_Silent_p.L151L NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TTCAGGAGCTGTTCAGTAAGC 0.612 4 89 --- --- --- --- PASS STK32C 282974 broad.mit.edu 37 10 134040467 134040467 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr10:134040467G>A uc001lle.1 - 4 616 c.476C>T c.(475-477)TCC>TTC p.S159F STK32C_uc001lld.1_Missense_Mutation_p.S42F|STK32C_uc010quu.1_Missense_Mutation_p.S172F|STK32C_uc009ybc.1_Missense_Mutation_p.S42F|STK32C_uc009ybd.1_Missense_Mutation_p.S42F|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_RNA NM_173575 NP_775846 Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 159 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|breast(1) 5 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) GTCCTGGAAGGAGTACCTGTG 0.627 11 28 --- --- --- --- PASS OR4P4 81300 broad.mit.edu 37 11 55406376 55406376 + Silent SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr11:55406376T>C uc010rij.1 + 1 543 c.543T>C c.(541-543)CCT>CCC p.P181P NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 ATGTGTATCCTTTGCTGAAAT 0.388 9 2 --- --- --- --- PASS OR4D11 219986 broad.mit.edu 37 11 59271853 59271853 + Missense_Mutation SNP A C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr11:59271853A>C uc001noa.1 + 1 805 c.805A>C c.(805-807)AAG>CAG p.K269Q NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 269 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CCCCACAGAAAAGGCCATCTC 0.527 64 88 --- --- --- --- PASS INTS5 80789 broad.mit.edu 37 11 62414975 62414975 + Silent SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr11:62414975C>T uc001nud.2 - 2 2630 c.2577G>A c.(2575-2577)GAG>GAA p.E859E GANAB_uc001nua.2_5'Flank|GANAB_uc001nub.2_5'Flank|GANAB_uc001nuc.2_5'Flank|GANAB_uc010rma.1_5'Flank|GANAB_uc010rmb.1_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN integrator complex subunit 5 859 Helical; (Potential). snRNA processing integral to membrane|integrator complex protein binding ovary(2) 2 GCTTTAACAGCTCAAAGAGCA 0.677 14 24 --- --- --- --- PASS KLC2 64837 broad.mit.edu 37 11 66030426 66030426 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr11:66030426C>T uc010rov.1 + 5 914 c.671C>T c.(670-672)GCA>GTA p.A224V KLC2_uc010row.1_Missense_Mutation_p.A224V|KLC2_uc009yra.2_Missense_Mutation_p.A224V|KLC2_uc001ohb.2_Missense_Mutation_p.A224V|KLC2_uc010rox.1_Missense_Mutation_p.A147V|KLC2_uc001ohc.2_Missense_Mutation_p.A224V|KLC2_uc001ohd.2_Missense_Mutation_p.A147V|KLC2_uc001ohe.1_Missense_Mutation_p.A85V NM_001134775 NP_001128247 Q9H0B6 KLC2_HUMAN kinesin light chain 2 isoform 1 224 TPR 1. blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 TGCAAGCAGGCACTCGAAGAC 0.622 22 55 --- --- --- --- PASS FOLR3 2352 broad.mit.edu 37 11 71850518 71850518 + Nonsense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr11:71850518G>A uc001ory.1 + 4 661 c.611G>A c.(610-612)TGG>TAG p.W204* FOLR3_uc001orx.1_Nonsense_Mutation_p.W162* P41439 FOLR3_HUMAN SubName: Full=FOLR3 protein; Flags: Fragment; 160 folic acid transport extracellular region|extrinsic to membrane|membrane fraction folic acid binding|receptor activity 0 Folic Acid(DB00158) GGCTGGAATTGGACCTCAGGT 0.572 10 19 --- --- --- --- PASS GLB1L2 89944 broad.mit.edu 37 11 134244883 134244883 + Silent SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr11:134244883G>A uc001qhp.2 + 19 2030 c.1842G>A c.(1840-1842)GAG>GAA p.E614E GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 614 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TTTTTGAGGAGACGATGGCGG 0.627 4 18 --- --- --- --- PASS GALNT8 26290 broad.mit.edu 37 12 4854615 4854615 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr12:4854615G>A uc001qne.1 + 5 973 c.881G>A c.(880-882)CGG>CAG p.R294Q NM_017417 NP_059113 Q9NY28 GALT8_HUMAN polypeptide N-acetylgalactosaminyltransferase 8 294 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(1)|skin(1) 4 ATCTTGGCTCGGATTCAGGAG 0.478 13 18 --- --- --- --- PASS CCDC38 120935 broad.mit.edu 37 12 96292183 96292183 + Missense_Mutation SNP C G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr12:96292183C>G uc001tek.1 - 7 828 c.594G>C c.(592-594)ATG>ATC p.M198I NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 198 Potential. skin(1) 1 CTTGTACCTCCATGCTTGCTT 0.418 24 59 --- --- --- --- PASS ATXN2 6311 broad.mit.edu 37 12 111891561 111891561 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr12:111891561T>C uc001tsj.2 - 24 3995 c.3833A>G c.(3832-3834)CAG>CGG p.Q1278R ATXN2_uc001tsh.2_Missense_Mutation_p.Q1038R|ATXN2_uc001tsi.2_Missense_Mutation_p.Q971R|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Intron|ATXN2_uc001tsl.1_3'UTR NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 1278 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 GAGGGCGGCCTGGGGACCGCC 0.567 10 22 --- --- --- --- PASS HNF1A 6927 broad.mit.edu 37 12 121416852 121416852 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr12:121416852C>A uc001tzg.2 + 1 304 c.281C>A c.(280-282)CCT>CAT p.P94H HNF1A_uc001tze.1_Missense_Mutation_p.P94H|HNF1A_uc001tzf.2_Missense_Mutation_p.P94H|HNF1A_uc010szn.1_Missense_Mutation_p.P94H NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 94 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AACCTCAGCCCTGAGGAGGCG 0.667 Hepatic_Adenoma_Familial_Clustering_of 7 7 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19753543 19753543 + Missense_Mutation SNP T G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr13:19753543T>G uc009zzj.2 - 2 213 c.164A>C c.(163-165)GAG>GCG p.E55A NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 55 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) AGCTCCAGTCTCACTGAAGAA 0.552 10 110 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19753544 19753544 + Nonsense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr13:19753544C>A uc009zzj.2 - 2 212 c.163G>T c.(163-165)GAG>TAG p.E55* NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 55 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCTCCAGTCTCACTGAAGAAC 0.552 11 110 --- --- --- --- PASS ADAM21 8747 broad.mit.edu 37 14 70925106 70925106 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr14:70925106T>C uc001xmd.2 + 1 890 c.890T>C c.(889-891)ATG>ACG p.M297T NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 preproprotein 297 Peptidase M12B.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding pancreas(1)|skin(1) 2 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCTGCACATATGTTCATAAAA 0.383 24 38 --- --- --- --- PASS PLD4 122618 broad.mit.edu 37 14 105396392 105396392 + Missense_Mutation SNP C G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr14:105396392C>G uc001ypu.1 + 6 808 c.667C>G c.(667-669)CGG>GGG p.R223G PLD4_uc010tyl.1_Missense_Mutation_p.R230G NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 223 PLD phosphodiesterase 1. lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) TGTGGATGGACGGCACATATA 0.602 22 50 --- --- --- --- PASS BRF1 2972 broad.mit.edu 37 14 105692499 105692499 + Splice_Site SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr14:105692499C>A uc001yqp.2 - 10 1319 c.956_splice c.e10-1 p.G319_splice BRF1_uc010tyo.1_Splice_Site_p.G204_splice|BRF1_uc010typ.1_Splice_Site_p.G204_splice|BRF1_uc001yql.2_Splice_Site_p.G115_splice|BRF1_uc001yqo.2_Splice_Site_p.G81_splice|BRF1_uc010axg.1_Splice_Site_p.G292_splice|BRF1_uc001yqn.2_Splice_Site|BRF1_uc010axh.1_Splice_Site NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GATATTTCACCTGAAGTCATA 0.438 5 94 --- --- --- --- PASS UBE2Q2 92912 broad.mit.edu 37 15 76152255 76152255 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr15:76152255T>C uc002bbg.2 + 3 705 c.319T>C c.(319-321)TGC>CGC p.C107R UBE2Q2_uc002bbh.2_Intron|UBE2Q2_uc010umn.1_Missense_Mutation_p.C91R|UBE2Q2_uc002bbi.2_5'UTR NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q 2 isoform 1 107 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity ovary(2) 2 ATGTGAACTCTGCAGTTTATA 0.378 7 13 --- --- --- --- PASS CHD2 1106 broad.mit.edu 37 15 93536215 93536215 + Missense_Mutation SNP A T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr15:93536215A>T uc002bsp.2 + 28 4157 c.3582A>T c.(3580-3582)GAA>GAT p.E1194D CHD2_uc002bso.1_Missense_Mutation_p.E1194D NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1194 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGCTGAAAGAAAATGCCAGCG 0.502 17 26 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3808000 3808000 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr16:3808000C>T uc002cvv.2 - 18 3623 c.3419G>A c.(3418-3420)CGG>CAG p.R1140Q CREBBP_uc002cvw.2_Missense_Mutation_p.R1102Q NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1140 Bromo. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTCCAGCTTCCGCTTGATGGT 0.463 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 23 27 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70896017 70896017 + Missense_Mutation SNP A G G rs57797337 TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr16:70896017A>G uc002ezr.2 - 69 11836 c.11708T>C c.(11707-11709)ATT>ACT p.I3903T HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3904 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GAACTTCTGAATCTTCCCCAC 0.547 6 16 --- --- --- --- PASS LRRC50 123872 broad.mit.edu 37 16 84193349 84193349 + Nonsense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr16:84193349C>T uc002fhl.3 + 6 992 c.811C>T c.(811-813)CGA>TGA p.R271* LRRC50_uc010chi.1_RNA|LRRC50_uc010vnw.1_Nonsense_Mutation_p.R19* NM_178452 NP_848547 Q8NEP3 DAAF1_HUMAN leucine rich repeat containing 50 271 LRRCT. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding 0 AGTCACTGTACGACTAAAGCA 0.388 Kartagener_syndrome 24 41 --- --- --- --- PASS C17orf97 400566 broad.mit.edu 37 17 263352 263352 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:263352G>A uc002frh.2 + 3 764 c.748G>A c.(748-750)GAG>AAG p.E250K C17orf97_uc010vpz.1_RNA NM_001013672 NP_001013694 Q6ZQX7 CQ097_HUMAN hypothetical protein LOC400566 270 7.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. ovary(1) 1 CCCCGACCCCGAGGCCCTCAA 0.726 4 1 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C A A rs121912655 TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:7577556C>A uc002gim.2 - 7 919 c.725G>T c.(724-726)TGC>TTC p.C242F TP53_uc002gig.1_Missense_Mutation_p.C242F|TP53_uc002gih.2_Missense_Mutation_p.C242F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110F|TP53_uc010cng.1_Missense_Mutation_p.C110F|TP53_uc002gii.1_Missense_Mutation_p.C110F|TP53_uc010cnh.1_Missense_Mutation_p.C242F|TP53_uc010cni.1_Missense_Mutation_p.C242F|TP53_uc002gij.2_Missense_Mutation_p.C242F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149F|TP53_uc002gio.2_Missense_Mutation_p.C110F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCGCCCATGCAGGAACTGTT 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 59 21 --- --- --- --- PASS MYH8 4626 broad.mit.edu 37 17 10307778 10307778 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:10307778C>T uc002gmm.2 - 22 2652 c.2557G>A c.(2557-2559)GCC>ACC p.A853T uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 853 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TTCATGGTGGCCATCTCTTTC 0.458 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 12 30 --- --- --- --- PASS KCNJ12 3768 broad.mit.edu 37 17 21318712 21318712 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:21318712C>A uc002gyv.1 + 3 763 c.58C>A c.(58-60)CTG>ATG p.L20M NM_021012 NP_066292 Q14500 IRK12_HUMAN potassium inwardly-rectifying channel, subfamily 20 Cytoplasmic (By similarity). blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission integral to membrane inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(3)|skin(1) 4 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) Dofetilide(DB00204) GGAGGACGGGCTGCACCTGGT 0.687 Prostate(3;0.18) 5 35 --- --- --- --- PASS NEK8 284086 broad.mit.edu 37 17 27062332 27062332 + Nonsense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:27062332G>A uc002hcp.2 + 4 561 c.561G>A c.(559-561)TGG>TGA p.W187* NM_178170 NP_835464 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 187 Protein kinase. cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1) 6 Lung NSC(42;0.0158) GTGACATCTGGGCCCTGGGCT 0.577 9 24 --- --- --- --- PASS MYO1D 4642 broad.mit.edu 37 17 30965835 30965835 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:30965835C>A uc002hho.1 - 20 2626 c.2614G>T c.(2614-2616)GTG>TTG p.V872L MYO1D_uc002hhp.1_Missense_Mutation_p.V872L NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 872 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) CTGTCTTCCACCTTACTAAAT 0.358 5 11 --- --- --- --- PASS SLFN11 91607 broad.mit.edu 37 17 33690215 33690215 + Silent SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:33690215G>A uc010ctp.2 - 4 1054 c.612C>T c.(610-612)ATC>ATT p.I204I SLFN11_uc010ctq.2_Silent_p.I204I|SLFN11_uc002hjh.3_Silent_p.I204I|SLFN11_uc002hjg.3_Silent_p.I204I|SLFN11_uc010ctr.2_Silent_p.I204I NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 204 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAAAAGGCAGGATTTCACCAT 0.413 18 44 --- --- --- --- PASS AOC2 314 broad.mit.edu 37 17 40997603 40997603 + Silent SNP A G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:40997603A>G uc002ibu.2 + 1 995 c.960A>G c.(958-960)CAA>CAG p.Q320Q AOC2_uc002ibt.2_Silent_p.Q320Q NM_009590 NP_033720 O75106 AOC2_HUMAN amine oxidase, copper containing 2 isoform b 320 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity ovary(2) 2 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) ACAGTGTGCAAGGAAACCTGG 0.547 45 58 --- --- --- --- PASS GJC1 10052 broad.mit.edu 37 17 42882110 42882110 + Missense_Mutation SNP T C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:42882110T>C uc002ihj.2 - 2 1587 c.1076A>G c.(1075-1077)CAA>CGA p.Q359R GJC1_uc002ihk.2_Missense_Mutation_p.Q359R|GJC1_uc002ihl.2_Missense_Mutation_p.Q359R|GJC1_uc010czx.2_Missense_Mutation_p.Q359R|GJC1_uc010czy.1_Missense_Mutation_p.Q220R NM_005497 NP_005488 P36383 CXG1_HUMAN connexin 45 359 Cytoplasmic (Potential). cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport connexon complex|integral to membrane 0 Prostate(33;0.0959) AGGGTTGTTTTGGTGACTGTA 0.572 41 45 --- --- --- --- PASS STH 246744 broad.mit.edu 37 17 44076726 44076726 + Silent SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:44076726C>T uc002ijy.2 + 1 111 c.81C>T c.(79-81)TGC>TGT p.C27C MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_001007532 NP_001007533 Q8IWL8 STH_HUMAN saitohin 27 cytoplasm|nucleus 0 tcattgaatgCGGGGTTAATT 0.254 7 74 --- --- --- --- PASS SFRS1 6426 broad.mit.edu 37 17 56083253 56083253 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr17:56083253C>A uc002ivi.2 - 3 670 c.461G>T c.(460-462)CGA>CTA p.R154L SFRS1_uc002ivj.2_Missense_Mutation_p.R154L NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 154 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) AGTGCCATCTCGGTAAACATC 0.413 4 65 --- --- --- --- PASS IMPACT 55364 broad.mit.edu 37 18 22007976 22007976 + Missense_Mutation SNP G C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr18:22007976G>C uc002kvh.3 + 2 242 c.130G>C c.(130-132)GAT>CAT p.D44H IMPACT_uc002kvg.3_Missense_Mutation_p.D26H NM_018439 NP_060909 Q9P2X3 IMPCT_HUMAN Impact homolog 44 RWD. 0 all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991) AATTAGCGACGATATAGATGA 0.408 38 86 --- --- --- --- PASS MED16 10025 broad.mit.edu 37 19 879947 879947 + Missense_Mutation SNP C T T rs139117438 by1000genomes TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:879947C>T uc002lqd.1 - 8 1494 c.1343G>A c.(1342-1344)AGC>AAC p.S448N MED16_uc010drw.1_Missense_Mutation_p.S273N|MED16_uc002lqe.2_Missense_Mutation_p.S437N|MED16_uc002lqf.2_Missense_Mutation_p.S437N|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S437N|MED16_uc010xfx.1_Missense_Mutation_p.S293N|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN mediator complex subunit 16 448 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTTCCCGTGGCTGTCAATCCC 0.667 3 26 --- --- --- --- PASS UHRF1 29128 broad.mit.edu 37 19 4929420 4929420 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:4929420G>T uc002mbo.2 + 3 508 c.340G>T c.(340-342)GCC>TCC p.A114S UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.A127S NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 114 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) CGGTGAGGCGGCCGCCGAGAC 0.652 26 20 --- --- --- --- PASS DNMT1 1786 broad.mit.edu 37 19 10270421 10270421 + Missense_Mutation SNP G C C TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:10270421G>C uc002mng.2 - 16 1325 c.1145C>G c.(1144-1146)ACA>AGA p.T382R DNMT1_uc010xlc.1_Missense_Mutation_p.T398R|DNMT1_uc002mnh.2_Missense_Mutation_p.T277R|DNMT1_uc010xld.1_Missense_Mutation_p.T382R NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 382 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CTTCTCATTTGTCAGCATCTG 0.547 6 134 --- --- --- --- PASS HOOK2 29911 broad.mit.edu 37 19 12874185 12874185 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:12874185G>T uc002muy.2 - 23 2242 c.2071C>A c.(2071-2073)CTG>ATG p.L691M HOOK2_uc010xmq.1_Missense_Mutation_p.L96M|HOOK2_uc002muz.2_Missense_Mutation_p.L689M NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 691 Sufficient for interaction with CEP110.|Required for localization to the centrosome and induction of aggresome formation. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 TGCTGTGCCAGGAATGACTGG 0.637 5 51 --- --- --- --- PASS PDE4C 5143 broad.mit.edu 37 19 18333041 18333041 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:18333041G>A uc010xqc.1 - 2 815 c.335C>T c.(334-336)CCG>CTG p.P112L PDE4C_uc002nik.3_Missense_Mutation_p.P112L|PDE4C_uc002nil.3_Missense_Mutation_p.P112L|PDE4C_uc002nif.3_5'Flank|PDE4C_uc002nig.3_5'Flank|PDE4C_uc002nih.3_5'Flank|PDE4C_uc010ebk.2_Missense_Mutation_p.P6L|PDE4C_uc002nii.3_Missense_Mutation_p.P80L|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.P112L NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN phosphodiesterase 4C isoform PDE4C-2 112 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|skin(2)|central_nervous_system(1) 5 Dyphylline(DB00651) CTGGCTGTGCGGGACTGGAGC 0.627 12 27 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38989785 38989785 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:38989785G>T uc002oit.2 + 43 7059 c.6929G>T c.(6928-6930)TGC>TTC p.C2310F RYR1_uc002oiu.2_Missense_Mutation_p.C2310F|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2310 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTCCAGAGCTGCCCCATGCTT 0.622 19 42 --- --- --- --- PASS BBC3 27113 broad.mit.edu 37 19 47725088 47725088 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:47725088G>A uc002pgf.3 - 4 834 c.553C>T c.(553-555)CAC>TAC p.H185Y BBC3_uc010xyl.1_Missense_Mutation_p.P219L|BBC3_uc010eky.2_Missense_Mutation_p.H123Y|BBC3_uc010ekz.2_Missense_Mutation_p.P59L NM_014417 NP_055232 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 isoform 4 185 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding|protein binding 0 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) GGGGCTCTGTGGCCCCTGGGT 0.667 7 15 --- --- --- --- PASS LILRB4 11006 broad.mit.edu 37 19 55179342 55179342 + Missense_Mutation SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:55179342C>T uc002qgp.2 + 12 1581 c.1219C>T c.(1219-1221)CCC>TCC p.P407S LILRB4_uc002qgq.2_Missense_Mutation_p.P406S|LILRB4_uc002qgr.2_Missense_Mutation_p.P449S|LILRB4_uc010ert.2_Missense_Mutation_p.P448S|LILRB4_uc010eru.2_Missense_Mutation_p.P437S NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 407 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) ATCTGAAGCCCCCCAGGATGT 0.647 4 72 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55447727 55447727 + Silent SNP C T T rs141917868 TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:55447727C>T uc002qih.3 - 6 2278 c.2202G>A c.(2200-2202)ACG>ACA p.T734T NLRP7_uc002qig.3_Silent_p.T706T|NLRP7_uc002qii.3_Silent_p.T734T|NLRP7_uc010esk.2_Silent_p.T734T|NLRP7_uc010esl.2_Silent_p.T762T NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 734 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GGGTCAGGTGCGTGAGGGTCT 0.517 16 32 --- --- --- --- PASS C19orf51 352909 broad.mit.edu 37 19 55670653 55670653 + Missense_Mutation SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:55670653G>A uc002qji.1 - 12 1437 c.1403C>T c.(1402-1404)GCT>GTT p.A468V TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.A283V|C19orf51_uc002qjj.1_Missense_Mutation_p.A515V|C19orf51_uc002qjk.1_Missense_Mutation_p.A414V|C19orf51_uc002qjl.1_Missense_Mutation_p.A535V Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 468 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GGGTTCCACAGCTGGGACAGT 0.632 5 50 --- --- --- --- PASS C20orf186 149954 broad.mit.edu 37 20 31671225 31671225 + Silent SNP A G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr20:31671225A>G uc010zue.1 + 3 237 c.222A>G c.(220-222)GTA>GTG p.V74V NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 74 cytoplasm|extracellular region lipid binding 0 CCCCCCCAGTATATACCAACG 0.488 57 110 --- --- --- --- PASS TOMM34 10953 broad.mit.edu 37 20 43585127 43585127 + Splice_Site SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr20:43585127C>A uc002xmy.2 - 2 268 c.128_splice c.e2-1 p.G43_splice PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_Splice_Site NM_006809 NP_006800 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding 0 Myeloproliferative disorder(115;0.0122) TCTGAAGAACCTGCCCAGATA 0.468 6 109 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47444188 47444188 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr20:47444188G>T uc002xtw.1 - 1 233 c.210C>A c.(208-210)TTC>TTA p.F70L NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 70 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCGACTGCAAGAAGCGCAAGG 0.632 8 6 --- --- --- --- PASS KRTAP12-2 353323 broad.mit.edu 37 21 46086489 46086489 + Silent SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr21:46086489G>A uc002zfu.2 - 1 356 c.315C>T c.(313-315)TGC>TGT p.C105C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN keratin associated protein 12-2 105 23 X 5 AA approximate repeats.|18. keratin filament 0 TCACAGGCACGCACAGGGAGG 0.652 17 42 --- --- --- --- PASS SLC5A1 6523 broad.mit.edu 37 22 32506092 32506092 + Silent SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr22:32506092G>A uc003amc.2 + 15 2119 c.1887G>A c.(1885-1887)AAG>AAA p.K629K SLC5A1_uc011alz.1_Silent_p.K502K NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 629 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 AAGCCATGAAGATGAAGATGA 0.483 66 35 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40060851 40060851 + Silent SNP C T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr22:40060851C>T uc003ayc.2 + 21 3774 c.3774C>T c.(3772-3774)TCC>TCT p.S1258S CACNA1I_uc003ayd.2_Silent_p.S1223S|CACNA1I_uc003aye.2_Silent_p.S1173S|CACNA1I_uc003ayf.2_Silent_p.S1138S NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1258 Helical; Name=S3 of repeat III; (Potential).|III. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TCGTGGTGTCCCTGGCCTCAG 0.652 23 35 --- --- --- --- PASS MKL1 57591 broad.mit.edu 37 22 40807497 40807497 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr22:40807497G>T uc003ayv.1 - 12 2900 c.2693C>A c.(2692-2694)CCC>CAC p.P898H MKL1_uc003ayw.1_Missense_Mutation_p.P898H|MKL1_uc010gye.1_3'UTR|MKL1_uc010gyf.1_Missense_Mutation_p.P848H NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 898 positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GCTCAGCACGGGACCACCTGA 0.612 T RBM15 acute megakaryocytic leukemia 5 43 --- --- --- --- PASS PRPS2 5634 broad.mit.edu 37 X 12817407 12817407 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:12817407G>T uc004cvb.2 + 2 328 c.204G>T c.(202-204)ATG>ATT p.M68I PRPS2_uc004cva.2_Missense_Mutation_p.M68I|PRPS2_uc010nec.2_Missense_Mutation_p.M1I NM_002765 NP_002756 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 68 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity 0 ACAACCTGATGGAACTCCTCA 0.493 5 73 --- --- --- --- PASS TLR7 51284 broad.mit.edu 37 X 12904135 12904135 + Nonsense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:12904135G>T uc004cvc.2 + 3 647 c.508G>T c.(508-510)GAA>TAA p.E170* NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 170 LRR 5.|Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) GAATCTAACAGAACTGGCCAA 0.418 5 35 --- --- --- --- PASS TLR8 51311 broad.mit.edu 37 X 12938148 12938148 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:12938148G>T uc004cve.2 + 2 1057 c.989G>T c.(988-990)GGG>GTG p.G330V TLR8_uc004cvd.2_Missense_Mutation_p.G348V NM_138636 NP_619542 Q9NR97 TLR8_HUMAN toll-like receptor 8 precursor 330 LRR 8.|Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity ovary(4)|lung(2)|large_intestine(1) 7 ATAGCCTCTGGGGCATTTTTA 0.388 19 20 --- --- --- --- PASS BCOR 54880 broad.mit.edu 37 X 39932857 39932857 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:39932857G>T uc004den.3 - 4 2034 c.1742C>A c.(1741-1743)ACC>AAC p.T581N BCOR_uc004dep.3_Missense_Mutation_p.T581N|BCOR_uc004deo.3_Missense_Mutation_p.T581N|BCOR_uc004dem.3_Missense_Mutation_p.T581N|BCOR_uc004deq.3_Missense_Mutation_p.T581N NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 581 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 GCTGGTTTTGGTGCCATCTGC 0.617 7 58 --- --- --- --- PASS FAM120C 54954 broad.mit.edu 37 X 54099692 54099692 + Missense_Mutation SNP A T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:54099692A>T uc004dsz.3 - 16 3148 c.3065T>A c.(3064-3066)CTG>CAG p.L1022Q FAM120C_uc011moh.1_Missense_Mutation_p.W885R NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 1022 ovary(1)|central_nervous_system(1) 2 ATGAAGCTCCAGGGATTTAGA 0.463 8 25 --- --- --- --- PASS CDX4 1046 broad.mit.edu 37 X 72673420 72673420 + Missense_Mutation SNP G T T TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:72673420G>T uc011mqk.1 + 2 570 c.570G>T c.(568-570)AAG>AAT p.K190N NM_005193 NP_005184 O14627 CDX4_HUMAN caudal type homeobox 4 190 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(35;0.156) AGCTGGAAAAGGAATTCCATT 0.403 3 9 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73963358 73963358 + Missense_Mutation SNP C A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:73963358C>A uc004eby.2 - 3 1651 c.1034G>T c.(1033-1035)TGC>TTC p.C345F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 345 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TCGCTTGGGGCAGGTAGTAAA 0.463 19 20 --- --- --- --- PASS ARL13A 392509 broad.mit.edu 37 X 100242388 100242388 + Missense_Mutation SNP T A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:100242388T>A uc004ego.2 + 6 612 c.496T>A c.(496-498)TCA>ACA p.S166T ARL13A_uc011mrf.1_Missense_Mutation_p.S166T|ARL13A_uc010nng.2_Missense_Mutation_p.S166T NM_001012990 NP_001013008 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13 isoform a 166 GTP binding ovary(1) 1 GGAGCCATGTTCAGCCATCAG 0.512 5 23 --- --- --- --- PASS MIR890 100126303 broad.mit.edu 37 X 145075861 145075861 + RNA SNP G A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:145075861G>A hsa-mir-890|MI0005533 - c.9G>A 0 TTCCAAGTAGGGCACTTCCCA 0.483 7 99 --- --- --- --- PASS C1orf170 84808 broad.mit.edu 37 1 911962 911964 + In_Frame_Del DEL TTC - - TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr1:911962_911964delTTC uc001ach.2 - 4 1884_1886 c.1848_1850delGAA c.(1846-1851)CAGAAT>CAT p.616_617QN>H C1orf170_uc001acg.2_RNA NR_027693 RecName: Full=Uncharacterized protein C1orf170; 0 GCACATGTCATTCTGGCTGAAGG 0.611 2 4 --- --- --- --- FOXP1 27086 broad.mit.edu 37 3 71027024 71027030 + Frame_Shift_Del DEL TGGGTCC - - TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr3:71027024_71027030delTGGGTCC uc003dol.2 - 11 1620_1626 c.1297_1303delGGACCCA c.(1297-1305)GGACCCATCfs p.G433fs FOXP1_uc003dom.2_Frame_Shift_Del_p.G357fs|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Frame_Shift_Del_p.G433fs|FOXP1_uc003dop.2_Frame_Shift_Del_p.G433fs|FOXP1_uc003doq.1_Frame_Shift_Del_p.G432fs|FOXP1_uc003doi.2_Frame_Shift_Del_p.G333fs|FOXP1_uc003doj.2_Frame_Shift_Del_p.G333fs|FOXP1_uc003dok.2_Frame_Shift_Del_p.G246fs|FOXP1_uc003dor.1_Frame_Shift_Del_p.G211fs NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 433_435 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CGCCTGCGGATGGGTCCCACCGTGTGC 0.546 T PAX5 ALL 25 12 --- --- --- --- Unknown 0 broad.mit.edu 37 4 3591606 3591607 + RNA INS - ACAC ACAC rs139255858 TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr4:3591606_3591607insACAC uc003ghj.1 + 3 c.1377_1378insACAC uc003ghk.1_Intron Homo sapiens cDNA FLJ35424 fis, clone SMINT2001461. TACATGGAAATacacacacact 0.054 5 3 --- --- --- --- CCDC109A 90550 broad.mit.edu 37 10 74451958 74451960 + In_Frame_Del DEL GGC - - TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr10:74451958_74451960delGGC uc001jtc.2 + 1 70_72 c.49_51delGGC c.(49-51)GGCdel p.G22del CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_In_Frame_Del_p.G22del|CCDC109A_uc001jtd.2_5'Flank NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A 22 Mitochondrial matrix (Potential). elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) CTCCTCTCGGggcggcggcggcg 0.616 4 2 --- --- --- --- Unknown 0 broad.mit.edu 37 10 127394567 127394568 + RNA INS - A A rs71029267 TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr10:127394567_127394568insA uc001lim.1 - 5 c.1818_1819insT uc001lil.2_Intron Homo sapiens cDNA FLJ37035 fis, clone BRACE2011545. CCTCAGGCTTCACGACCCTTCC 0.545 4 2 --- --- --- --- AEBP2 121536 broad.mit.edu 37 12 19592829 19592840 + In_Frame_Del DEL GGCGGCGGAGGC - - TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr12:19592829_19592840delGGCGGCGGAGGC uc001ref.2 + 1 222_233 c.196_207delGGCGGCGGAGGC c.(196-207)GGCGGCGGAGGCdel p.GGGG70del AEBP2_uc001ree.2_In_Frame_Del_p.GGGG70del|AEBP2_uc001reg.1_5'Flank NM_001114176 NP_001107648 Q6ZN18 AEBP2_HUMAN AE binding protein 2 isoform b 70_73 Glu-rich.|Gly-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) cagcggtgggggcggcggaggcggcggcggAG 0.387 5 5 --- --- --- --- SNRPN 6638 broad.mit.edu 37 15 25223030 25223030 + Frame_Shift_Del DEL C - - TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr15:25223030delC uc001ywp.1 + 11 1416 c.526delC c.(526-528)CCCfs p.P176fs SNRPN_uc001ywq.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywr.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001yws.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywt.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywv.1_Frame_Shift_Del_p.P179fs|SNRPN_uc001yww.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywx.1_Frame_Shift_Del_p.P176fs|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 176 |Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GGGCACTCCGCCCCCACCCGT 0.567 Prader-Willi_syndrome 5 10 --- --- --- --- KLK11 11012 broad.mit.edu 37 19 51525823 51525824 + Frame_Shift_Ins INS - G G TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chr19:51525823_51525824insG uc002pvd.1 - 6 938_939 c.826_827insC c.(826-828)CAGfs p.Q276fs KLK10_uc002puy.2_5'Flank|KLK10_uc002puz.2_5'Flank|KLK10_uc002pva.2_5'Flank|KLK11_uc002pvb.1_Frame_Shift_Ins_p.Q269fs|KLK11_uc002pve.1_Frame_Shift_Ins_p.Q133fs|KLK11_uc002pvf.1_Frame_Shift_Ins_p.Q244fs|KLK11_uc002pvc.3_Frame_Shift_Ins_p.Q244fs NM_144947 NP_659196 Q9UBX7 KLK11_HUMAN kallikrein 11 isoform 2 precursor 276 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) CATCGTCTCCTGGATCCAGTCC 0.500 114 54 --- --- --- --- IL1RAPL2 26280 broad.mit.edu 37 X 104478546 104478547 + Frame_Shift_Ins INS - A A TCGA-18-3408-01A-01D-0983-08 TCGA-18-3408-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx cab7a425-e081-4bae-b666-6cdf8ba4dd70 f60256d4-9359-49fc-86ff-dada8524ab7f g.chrX:104478546_104478547insA uc004elz.1 + 4 1157_1158 c.401_402insA c.(400-402)GCAfs p.A134fs NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 134 Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 TTGACTGTTGCAGAGAATGAAT 0.396 47 87 --- --- --- ---