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 HMGB4 127540 broad.mit.edu 37 1 34330273 34330273 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:34330273C>T uc001bxp.2 + 2 2224 c.481C>T c.(481-483)CGT>TGT p.R161C CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.R87C NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 161 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGAACTCTACCGTAAACAATG 0.478 STK40 83931 broad.mit.edu 37 1 36820904 36820904 + Missense_Mutation SNP T C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:36820904T>C uc001cak.1 - 6 880 c.473A>G c.(472-474)AAC>AGC p.N158S STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc009vva.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S NM_032017 NP_114406 Q8N2I9 STK40_HUMAN serine/threonine kinase 40 158 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(1) 1 Myeloproliferative disorder(586;0.0393) GTGCTGCAGGTTGATGAGGTC 0.562 CTPS 1503 broad.mit.edu 37 1 41461704 41461705 + Frame_Shift_Ins INS - A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:41461704_41461705insA uc001cgk.3 + 8 1344_1345 c.836_837insA c.(835-837)AGAfs p.R279fs CTPS_uc010ojo.1_Frame_Shift_Ins_p.R48fs|CTPS_uc010ojp.1_Frame_Shift_Ins_p.R286fs|CTPS_uc001cgl.3_Frame_Shift_Ins_p.R279fs|CTPS_uc010ojq.1_Frame_Shift_Ins_p.R123fs|CTPS_uc009vwe.2_5'UTR NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 279 CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) AGGCAGCCAAGAAAAATGCTGA 0.475 IFI44L 10964 broad.mit.edu 37 1 79094655 79094655 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:79094655C>T uc010oro.1 + 3 677 c.498C>T c.(496-498)GAC>GAT p.D166D IFI44L_uc010orp.1_Translation_Start_Site|IFI44L_uc010orq.1_Intron NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 166 cytoplasm 0 ATAACCTAGACGACATAAAGA 0.294 OR6N1 128372 broad.mit.edu 37 1 158735944 158735944 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:158735944C>T uc010piq.1 - 1 529 c.529G>A c.(529-531)GTC>ATC p.V177I NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) TCACAAAAGACGTGCTGAATG 0.473 USH2A 7399 broad.mit.edu 37 1 216419959 216419959 + Missense_Mutation SNP C T T rs146916397 byFrequency TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:216419959C>T uc001hku.1 - 13 3164 c.2777G>A c.(2776-2778)CGT>CAT p.R926H USH2A_uc001hkv.2_Missense_Mutation_p.R926H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 926 Laminin EGF-like 8.|Extracellular (Potential). 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) TCTTCCTTGACGATTAGGCAC 0.423 HNSCC(13;0.011) OR2L2 26246 broad.mit.edu 37 1 248202093 248202094 + Frame_Shift_Ins INS - T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr1:248202093_248202094insT uc001idw.2 + 1 620_621 c.524_525insT c.(523-525)CATfs p.H175fs OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCCATCAATCATTTTTTCTGTG 0.431 PTEN 5728 broad.mit.edu 37 10 89711891 89711891 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr10:89711891G>A uc001kfb.2 + 7 1540 c.509G>A c.(508-510)AGT>AAT p.S170N NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 170 Phosphatase tensin-type. S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.S170N(3)|p.S170I(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)|p.S170fs*8(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACTATTCCCAGTCAGAGGCGC 0.353 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) CELF1 10658 broad.mit.edu 37 11 47496959 47496959 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr11:47496959G>A uc001nfl.2 - 10 1128 c.1118C>T c.(1117-1119)GCG>GTG p.A373V CELF1_uc001nfm.2_Missense_Mutation_p.A370V|CELF1_uc001nfn.2_Missense_Mutation_p.A369V|CELF1_uc001nfo.1_Missense_Mutation_p.A399V|CELF1_uc010rhm.1_Missense_Mutation_p.A372V|CELF1_uc001nfp.2_Missense_Mutation_p.A401V|CELF1_uc001nfq.1_Missense_Mutation_p.A373V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V NM_001025596 NP_001020767 Q92879 CELF1_HUMAN CUG triplet repeat, RNA-binding protein 1 373 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|ovary(1) 3 AGTGGGGAGCGCAGCAGCAGC 0.577 ANO1 55107 broad.mit.edu 37 11 70009414 70009414 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr11:70009414G>A uc001opj.2 + 19 2223 c.1918G>A c.(1918-1920)GTG>ATG p.V640M ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.V349M NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 640 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GGGCGACTACGTGTACATTTT 0.527 NFRKB 4798 broad.mit.edu 37 11 129762715 129762715 + Missense_Mutation SNP A C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr11:129762715A>C uc001qfi.2 - 3 231 c.30T>G c.(28-30)GAT>GAG p.D10E NFRKB_uc001qfg.2_Missense_Mutation_p.D23E|NFRKB_uc001qfh.2_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E NM_001143835 NP_001137307 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 10 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding ovary(3) 3 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GTTCCAGAGGATCTGTCAGCA 0.522 CACNA1C 775 broad.mit.edu 37 12 2602399 2602399 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr12:2602399G>A uc009zdu.1 + 7 1273 c.960G>A c.(958-960)ACG>ACA p.T320T CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T|CACNA1C_uc001qkj.1_Silent_p.T56T|CACNA1C_uc001qkk.1_Silent_p.T56T|CACNA1C_uc001qkm.1_Silent_p.T56T NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 320 I.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGCTGGAAACGGGCCACGGGC 0.607 CCDC41 51134 broad.mit.edu 37 12 94761893 94761893 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr12:94761893C>T uc001tdd.2 - 10 1719 c.1133G>A c.(1132-1134)CGT>CAT p.R378H CCDC41_uc001tde.2_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_RNA NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 370 Potential. 0 TTGTACTTTACGTATTAATTC 0.333 C12orf42 374470 broad.mit.edu 37 12 103695960 103695960 + Frame_Shift_Del DEL G - - TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr12:103695960delG uc001tjt.2 - 6 1097 c.1009delC c.(1009-1011)CGCfs p.R337fs C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 337 ovary(1)|central_nervous_system(1) 2 CGGGTTGGGCGGGGGGGTGCT 0.587 STAB2 55576 broad.mit.edu 37 12 104102273 104102273 + Missense_Mutation SNP G T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr12:104102273G>T uc001tjw.2 + 39 4433 c.4247G>T c.(4246-4248)TGT>TTT p.C1416F NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1416 Extracellular (Potential). angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 GATGGCTCCTGTGACTGTGAT 0.478 PCID2 55795 broad.mit.edu 37 13 113852564 113852564 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr13:113852564C>T uc010tju.1 - 3 222 c.141G>A c.(139-141)GAG>GAA p.E47E PCID2_uc010tjv.1_Silent_p.E47E|PCID2_uc010tjw.1_Silent_p.E47E|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR|PCID2_uc001vtg.1_RNA NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 47 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) GACACTTCTCCTCTGGAGAGG 0.358 LRFN5 145581 broad.mit.edu 37 14 42356780 42356780 + Missense_Mutation SNP A G G TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr14:42356780A>G uc001wvm.2 + 3 2150 c.952A>G c.(952-954)ATT>GTT p.I318V LRFN5_uc010ana.2_Missense_Mutation_p.I318V NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 318 Extracellular (Potential).|Ig-like. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TGAGCCTGCAATTCACTGGAT 0.463 HNSCC(30;0.082) NDN 4692 broad.mit.edu 37 15 23931738 23931738 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr15:23931738G>A uc001ywk.2 - 1 713 c.627C>T c.(625-627)GCC>GCT p.A209A NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 209 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGTTCCAGACGGCGCTCTCTC 0.632 Prader-Willi_syndrome ACSM1 116285 broad.mit.edu 37 16 20651783 20651783 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr16:20651783C>T uc002dhm.1 - 7 1184 c.1116G>A c.(1114-1116)ACG>ACA p.T372T ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.T372T NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 372 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|skin(1) 2 caCCACCTACCGTTTCCGACT 0.313 SCNN1B 6338 broad.mit.edu 37 16 23387159 23387159 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr16:23387159G>A uc002dln.2 + 8 1429 c.1253G>A c.(1252-1254)CGG>CAG p.R418Q NM_000336 NP_000327 P51168 SCNNB_HUMAN sodium channel, nonvoltage-gated 1, beta 418 Extracellular (By similarity). excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding ovary(3)|breast(2)|large_intestine(1)|pancreas(1) 7 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TGCAACAACCGGGACTTCCCA 0.612 PKD1L2 114780 broad.mit.edu 37 16 81181775 81181775 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr16:81181775G>A uc002fgh.1 - 29 4941 c.4941C>T c.(4939-4941)GAC>GAT p.D1647D PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1647 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TCAGAAGGCCGTCCTCCATGG 0.642 MTHFSD 64779 broad.mit.edu 37 16 86585659 86585659 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr16:86585659C>T uc002fjn.2 - 3 268 c.217G>A c.(217-219)GTT>ATT p.V73I MTHFSD_uc010voo.1_Missense_Mutation_p.V53I|MTHFSD_uc002fjo.2_Intron|MTHFSD_uc002fjm.2_Missense_Mutation_p.V72I|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Intron|MTHFSD_uc010vor.1_Intron|MTHFSD_uc002fjp.2_Missense_Mutation_p.V53I NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 73 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 AGCAGCCGAACGCCTTCCAGT 0.537 GLP2R 9340 broad.mit.edu 37 17 9783793 9783793 + Missense_Mutation SNP T G G TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr17:9783793T>G uc002gmd.1 + 11 1244 c.1244T>G c.(1243-1245)CTT>CGT p.L415R NM_004246 NP_004237 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor precursor 415 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane lung(2)|ovary(1) 3 Glucagon recombinant(DB00040) TTTGCAAAACTTATACGACTT 0.393 KRTAP4-11 653240 broad.mit.edu 37 17 39274206 39274206 + Missense_Mutation SNP C T T rs79388709 TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr17:39274206C>T uc002hvz.2 - 1 401 c.362G>A c.(361-363)AGA>AAA p.R121K NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 121 20.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gcactggggtctgcagcagct 0.100 PRKCA 5578 broad.mit.edu 37 17 64299034 64299034 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr17:64299034G>A uc002jfp.1 + 1 109 c.65G>A c.(64-66)CGC>CAC p.R22H PRKCA_uc002jfo.1_5'UTR NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 22 activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) CGCTTCGCCCGCAAAGGGGCG 0.642 LAMA1 284217 broad.mit.edu 37 18 6956725 6956725 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr18:6956725G>A uc002knm.2 - 56 8098 c.8004C>T c.(8002-8004)GTC>GTT p.V2668V LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.V121V|LAMA1_uc010wzj.1_Silent_p.V2144V NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2668 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTCCAGGTCGACTTGCTCAT 0.512 SETBP1 26040 broad.mit.edu 37 18 42532158 42532158 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr18:42532158C>T uc010dni.2 + 4 3149 c.2853C>T c.(2851-2853)CTC>CTT p.L951L NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 951 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCGATGACCTCCAGTTTCTGG 0.502 Schinzel-Giedion_syndrome FBN3 84467 broad.mit.edu 37 19 8130913 8130913 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr19:8130913G>A uc002mjf.2 - 63 8341 c.8320C>T c.(8320-8322)CGG>TGG p.R2774W FBN3_uc002mje.2_Missense_Mutation_p.R570W NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2774 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 ACCTCCAGCCGGTAGGTTCCA 0.677 ZNF536 9745 broad.mit.edu 37 19 30934790 30934790 + Silent SNP C T T rs144245375 TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr19:30934790C>T uc002nsu.1 + 2 459 c.321C>T c.(319-321)AAC>AAT p.N107N ZNF536_uc010edd.1_Silent_p.N107N NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) AGTTCCTCAACGGGCAGAACC 0.652 PDCD2L 84306 broad.mit.edu 37 19 34895691 34895691 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr19:34895691C>T uc002nvj.2 + 2 279 c.246C>T c.(244-246)TGC>TGT p.C82C NM_032346 NP_115722 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 82 cytoplasm ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CGTGCGCCTGCCCCGGCTGTA 0.721 RYR1 6261 broad.mit.edu 37 19 38990276 38990276 + Silent SNP C T T rs138617219 TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr19:38990276C>T uc002oit.2 + 44 7159 c.7029C>T c.(7027-7029)GGC>GGT p.G2343G RYR1_uc002oiu.2_Silent_p.G2343G|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2343 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) GGTGGCCAGGCGAGAGCGTGG 0.667 NLRP12 91662 broad.mit.edu 37 19 54312898 54312898 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr19:54312898G>A uc002qch.3 - 3 2235 c.2015C>T c.(2014-2016)GCG>GTG p.A672V NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.A672V|NLRP12_uc002qcj.3_Missense_Mutation_p.A672V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.A672V NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 672 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TTCCCCGTCCGCGCTGTAGGT 0.622 AFF3 3899 broad.mit.edu 37 2 100209854 100209854 + Missense_Mutation SNP G C C rs56151323 TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:100209854G>C uc002tag.2 - 14 2505 c.2269C>G c.(2269-2271)CTA>GTA p.L757V AFF3_uc002taf.2_Missense_Mutation_p.L782V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 757 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CTGTCCTTTAGAGGGGAGAGA 0.572 SCN9A 6335 broad.mit.edu 37 2 167162345 167162345 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:167162345G>A uc010fpl.2 - 5 894 c.553C>T c.(553-555)CGT>TGT p.R185C SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 185 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CACGGGTCACGAAGAAAAGTG 0.378 XIRP2 129446 broad.mit.edu 37 2 168100110 168100110 + Silent SNP C T T rs76149079 byFrequency TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:168100110C>T uc002udx.2 + 8 2226 c.2208C>T c.(2206-2208)TTC>TTT p.F736F XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.F561F|XIRP2_uc010fpq.2_Silent_p.F514F|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 561 Xin 6. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TAAAATGTTTCGAAACTCAAC 0.368 LRP2 4036 broad.mit.edu 37 2 170145548 170145548 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:170145548G>A uc002ues.2 - 9 1243 c.1030C>T c.(1030-1032)CGT>TGT p.R344C LRP2_uc010zdf.1_Missense_Mutation_p.R344C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 344 EGF-like 1.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACACAGGTACGGCTGTCATTG 0.522 TTN 7273 broad.mit.edu 37 2 179498195 179498195 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:179498195G>A uc010zfg.1 - 181 35411 c.35187C>T c.(35185-35187)GGC>GGT p.G11729G TTN_uc010zfh.1_Silent_p.G5424G|TTN_uc010zfi.1_Silent_p.G5357G|TTN_uc010zfj.1_Silent_p.G5232G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 12656 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACACATATTCGCCTTTATCTT 0.428 MPP4 58538 broad.mit.edu 37 2 202545627 202545627 + Missense_Mutation SNP T G G TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:202545627T>G uc002uyk.3 - 10 1071 c.863A>C c.(862-864)CAG>CCG p.Q288P MPP4_uc010ftj.2_Missense_Mutation_p.Q288P|MPP4_uc010zhq.1_Missense_Mutation_p.Q288P|MPP4_uc010zhr.1_Missense_Mutation_p.Q288P|MPP4_uc010zhs.1_Missense_Mutation_p.Q244P|MPP4_uc002uyj.3_Missense_Mutation_p.Q244P|MPP4_uc010zht.1_Missense_Mutation_p.Q261P|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.2_Missense_Mutation_p.Q244P NM_033066 NP_149055 Q96JB8 MPP4_HUMAN membrane protein, palmitoylated 4 288 SH3. cytoplasm protein binding 0 TTTTCGGGCCTGCCACCAGAG 0.582 OREG0015145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PAX3 5077 broad.mit.edu 37 2 223066892 223066892 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr2:223066892G>A uc010fwo.2 - 8 1557 c.1191C>T c.(1189-1191)ACC>ACT p.T397T PAX3_uc002vmt.1_Silent_p.T397T|PAX3_uc002vmy.1_Silent_p.T396T|PAX3_uc002vmv.1_Silent_p.T397T|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron NM_181457 NP_852122 P23760 PAX3_HUMAN paired box 3 isoform PAX3 397 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4) soft_tissue(761)|ovary(4)|skin(1) 766 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCGTGGTTGGTCAGGAGTC 0.537 T FOXO1A|NCOA1 alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome MYH9 4627 broad.mit.edu 37 22 36714329 36714329 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr22:36714329C>T uc003apg.2 - 11 1381 c.1150G>A c.(1150-1152)GAT>AAT p.D384N MYH9_uc003aph.1_Missense_Mutation_p.D248N NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 384 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CTGGTGAAATCGGTCACATTG 0.502 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated CELSR1 9620 broad.mit.edu 37 22 46829324 46829324 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr22:46829324C>T uc003bhw.1 - 5 4577 c.4577G>A c.(4576-4578)CGG>CAG p.R1526Q NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1526 Extracellular (Potential).|Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGAGTGCCACCGCCCGTCACT 0.612 CRELD1 78987 broad.mit.edu 37 3 9976243 9976243 + Missense_Mutation SNP C A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr3:9976243C>A uc003bug.2 + 2 239 c.121C>A c.(121-123)CCT>ACT p.P41T CIDEC_uc003bto.2_Intron|CRELD1_uc003buf.2_Missense_Mutation_p.P41T|CRELD1_uc003buh.2_Missense_Mutation_p.P41T|CRELD1_uc003bui.2_Missense_Mutation_p.P41T|CRELD1_uc003buj.2_RNA NM_001077415 NP_001070883 Q96HD1 CREL1_HUMAN cysteine-rich with EGF-like domains 1 isoform 3 41 Pro-rich.|Extracellular (Potential). cardiac septum development|endocardial cushion development integral to membrane calcium ion binding ovary(1) 1 TTCTCCCCCGCCTCAGCCCCA 0.582 STXBP5L 9515 broad.mit.edu 37 3 120976169 120976169 + Missense_Mutation SNP T G G TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr3:120976169T>G uc003eec.3 + 17 1961 c.1821T>G c.(1819-1821)ATT>ATG p.I607M STXBP5L_uc011bji.1_Missense_Mutation_p.I607M NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 607 WD 9. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AGGACAGTATTCCATGCCTCA 0.368 TP63 8626 broad.mit.edu 37 3 189456442 189456442 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr3:189456442C>T uc003fry.2 + 3 292 c.203C>T c.(202-204)TCA>TTA p.S68L TP63_uc003frx.2_Missense_Mutation_p.S68L|TP63_uc003frz.2_Missense_Mutation_p.S68L|TP63_uc010hzc.1_Missense_Mutation_p.S68L NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 68 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 12 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCTATATGTTCAGTTCAGCCC 0.408 Hay-Wells_syndrome HNSCC(45;0.13) ANAPC4 29945 broad.mit.edu 37 4 25416009 25416009 + Splice_Site SNP T C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr4:25416009T>C uc003gro.2 + 23 1814 c.1685_splice c.e23+2 p.S562_splice ANAPC4_uc003grp.2_Splice_Site_p.S448_splice|ANAPC4_uc003grq.2_Splice_Site_p.S15_splice NM_013367 NP_037499 Q9UJX5 APC4_HUMAN anaphase-promoting complex subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 Breast(46;0.0503) TACCAGAAGGTAATTCTGTTT 0.294 NIPAL1 152519 broad.mit.edu 37 4 48027184 48027184 + Missense_Mutation SNP T C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr4:48027184T>C uc003gxw.2 + 2 212 c.146T>C c.(145-147)CTG>CCG p.L49P NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 49 Extracellular (Potential). integral to membrane 0 TACACGGACCTGAATTACAGC 0.438 KDR 3791 broad.mit.edu 37 4 55946311 55946311 + Missense_Mutation SNP T G G rs66480054 TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr4:55946311T>G uc003has.2 - 30 4170 c.3868A>C c.(3868-3870)AGC>CGC p.S1290R KDR_uc003hat.1_Missense_Mutation_p.S1290R NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1290 Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GACTCCCTGCTTTTGCTGGGC 0.507 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) FRG1 2483 broad.mit.edu 37 4 190878609 190878609 + Silent SNP G C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr4:190878609G>C uc003izs.2 + 6 680 c.489G>C c.(487-489)GGG>GGC p.G163G NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 163 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) ATGAAGCAGGGGACATAGAAG 0.378 CARD6 84674 broad.mit.edu 37 5 40853460 40853460 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr5:40853460G>A uc003jmg.2 + 3 2101 c.2026G>A c.(2026-2028)GCT>ACT p.A676T NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 676 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 AGAAAACATGGCTGGGACAGC 0.493 TREM1 54210 broad.mit.edu 37 6 41254356 41254356 + Missense_Mutation SNP A G G TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr6:41254356A>G uc003oqf.1 - 1 102 c.38T>C c.(37-39)CTC>CCC p.L13P TREM1_uc003oqg.1_Missense_Mutation_p.L13P NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 13 blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) TGAGACAAAGAGCATCCACAG 0.587 BVES 11149 broad.mit.edu 37 6 105577294 105577294 + Missense_Mutation SNP T C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr6:105577294T>C uc003pqw.2 - 3 468 c.311A>G c.(310-312)AAC>AGC p.N104S BVES_uc003pqx.2_Missense_Mutation_p.N104S|BVES_uc003pqy.2_Missense_Mutation_p.N104S NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 104 Helical; (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) ATGCAAAATGTTGACACCCAA 0.363 EGFR 1956 broad.mit.edu 37 7 55221710 55221710 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr7:55221710C>T uc003tqk.2 + 7 1000 c.754C>T c.(754-756)CGC>TGC p.R252C EGFR_uc003tqh.2_Missense_Mutation_p.R252C|EGFR_uc003tqi.2_Missense_Mutation_p.R252C|EGFR_uc003tqj.2_Missense_Mutation_p.R252C|EGFR_uc010kzg.1_Missense_Mutation_p.R207C|EGFR_uc011kco.1_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 252 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.R252C(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) ATAGGTCTGCCGCAAATTCCG 0.582 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) MCM7 4176 broad.mit.edu 37 7 99691889 99691889 + Silent SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr7:99691889G>A uc003usw.1 - 13 2265 c.1755C>T c.(1753-1755)TAC>TAT p.Y585Y MCM7_uc003usv.1_Silent_p.Y409Y|MCM7_uc003usx.1_Silent_p.Y409Y|uc003usy.1_5'Flank|MIR25_hsa-mir-25|MI0000082_5'Flank|uc003usz.1_5'Flank|MIR93_hsa-mir-93|MI0000095_5'Flank|uc003uta.1_5'Flank|MIR106B_hsa-mir-106b|MI0000734_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 585 Interaction with ATRIP. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TCATCTCCACGTATGCTGCTG 0.577 FBXL13 222235 broad.mit.edu 37 7 102669857 102669857 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr7:102669857C>T uc003vaq.2 - 3 436 c.9G>A c.(7-9)CCG>CCA p.P3P FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 3 0 TCATCAATTCCGGAGTCATCT 0.294 RELN 5649 broad.mit.edu 37 7 103234169 103234169 + Missense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr7:103234169C>T uc003vca.2 - 27 4032 c.3872G>A c.(3871-3873)CGA>CAA p.R1291Q RELN_uc010liz.2_Missense_Mutation_p.R1291Q NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1291 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGTCAAATCTCGAGTTACTGC 0.393 NOBOX 135935 broad.mit.edu 37 7 144098554 144098554 + Silent SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr7:144098554C>T uc011kue.1 - 4 429 c.429G>A c.(427-429)CCG>CCA p.P143P NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 143 cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) AGACTGCTGGCGGCTTCTTCT 0.652 C9orf66 157983 broad.mit.edu 37 9 215042 215042 + Missense_Mutation SNP C A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr9:215042C>A uc003zge.3 - 1 852 c.355G>T c.(355-357)GGG>TGG p.G119W DOCK8_uc011lls.1_Intron|DOCK8_uc003zgf.2_Intron NM_152569 NP_689782 Q5T8R8 CI066_HUMAN hypothetical protein LOC157983 119 central_nervous_system(1) 1 all_lung(41;0.218) all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) AAGACGCCCCCCGCGGCGCGC 0.731 FREM1 158326 broad.mit.edu 37 9 14848723 14848723 + Missense_Mutation SNP T A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr9:14848723T>A uc003zlm.2 - 7 1791 c.1201A>T c.(1201-1203)ACA>TCA p.T401S FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 401 CSPG 2. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) ATGTGGACTGTCATAGGTGCA 0.448 OR13F1 138805 broad.mit.edu 37 9 107267210 107267210 + Missense_Mutation SNP G A A TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr9:107267210G>A uc011lvm.1 + 1 667 c.667G>A c.(667-669)GCC>ACC p.A223T NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 ATTTATCCTCGCCAGTATCCT 0.478 ANGPTL2 23452 broad.mit.edu 37 9 129854001 129854001 + Nonsense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr9:129854001C>T uc004bqr.1 - 4 1730 c.1230G>A c.(1228-1230)TGG>TGA p.W410* RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.W108* NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 precursor 410 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding 0 TGCCGTTGTGCCATGTAAAGG 0.532 SETX 23064 broad.mit.edu 37 9 135202099 135202099 + Missense_Mutation SNP T C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr9:135202099T>C uc004cbk.2 - 10 5069 c.4886A>G c.(4885-4887)AAG>AGG p.K1629R SETX_uc004cbj.2_Missense_Mutation_p.K1248R|SETX_uc010mzt.2_Missense_Mutation_p.K1248R NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1629 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity ovary(2)|skin(1) 3 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) CTGTATCCCCTTTGACTTATT 0.398 RALGDS 5900 broad.mit.edu 37 9 135975714 135975714 + Missense_Mutation SNP T C C TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chr9:135975714T>C uc004cco.2 - 17 2530 c.2510A>G c.(2509-2511)AAC>AGC p.N837S RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_Missense_Mutation_p.N25S|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.N825S|RALGDS_uc004ccr.2_Missense_Mutation_p.N836S|RALGDS_uc011mcv.1_Missense_Mutation_p.N808S|RALGDS_uc004ccs.2_Missense_Mutation_p.N782S|RALGDS_uc011mcw.1_Missense_Mutation_p.N908S|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 837 Ras-associating. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CTCCTCCAGGTTGTGTTTGTC 0.592 T CIITA PMBL|Hodgkin Lymphona| STAG2 10735 broad.mit.edu 37 X 123171416 123171416 + Nonsense_Mutation SNP C T T TCGA-81-5910-01A-11D-1696-08 TCGA-81-5910-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx bcf79a66-30e6-4554-982e-38d8eab46114 ea0956e4-5094-419f-b786-95d4160723f4 g.chrX:123171416C>T uc004etz.3 + 5 667 c.328C>T c.(328-330)CGA>TGA p.R110* STAG2_uc004eua.2_Nonsense_Mutation_p.R110*|STAG2_uc004eub.2_Nonsense_Mutation_p.R110*|STAG2_uc004euc.2_Nonsense_Mutation_p.R110*|STAG2_uc004eud.2_Nonsense_Mutation_p.R110*|STAG2_uc004eue.2_Nonsense_Mutation_p.R110* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 110 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CAAGCATGACCGAGATATAGC 0.323