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 MST1P9 11223 broad.mit.edu 37 1 17084454 17084454 + Silent SNP G C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:17084454G>C uc010ock.1 - 12 1644 c.1644C>G c.(1642-1644)GTC>GTG p.V548V CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Silent_p.V148V NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 GCTTGAGCAGGACAAGCTGGG 0.592 DNAJB4 11080 broad.mit.edu 37 1 78470832 78470832 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:78470832A>G uc001dij.2 + 1 197 c.38A>G c.(37-39)AAA>AGA p.K13R DNAJB4_uc010orn.1_Intron NM_007034 NP_008965 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 13 J. protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding 0 GGAATTGAGAAAGGAGCTTCA 0.368 ODF2L 57489 broad.mit.edu 37 1 86822223 86822223 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:86822223C>T uc001dll.1 - 14 1762 c.1422G>A c.(1420-1422)GCG>GCA p.A474A ODF2L_uc001dlm.1_Silent_p.A445A|ODF2L_uc001dln.2_Silent_p.A445A|ODF2L_uc001dlo.2_Silent_p.A314A|ODF2L_uc001dlp.2_Intron|ODF2L_uc010osg.1_Intron NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 474 Potential. centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) TCCGTTCCGCCGCCGTCAAGG 0.547 ZNF644 84146 broad.mit.edu 37 1 91403294 91403296 + In_Frame_Del DEL CTT - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:91403294_91403296delCTT uc001dnw.2 - 4 3576_3578 c.3434_3436delAAG c.(3433-3438)GAAGGG>GGG p.E1145del ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron NM_201269 NP_958357 Q9H582 ZN644_HUMAN zinc finger protein 644 isoform 1 1145 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) AAATTCAGCCCTTCTTCTTCTGA 0.365 TMED5 50999 broad.mit.edu 37 1 93620253 93620256 + Frame_Shift_Del DEL CAAA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:93620253_93620256delCAAA uc001dpn.2 - 4 1108_1111 c.661_664delTTTG c.(661-666)TTTGAAfs p.F221fs TMED5_uc001dpo.2_3'UTR|TMED5_uc001dpp.2_RNA NM_016040 NP_057124 Q9Y3A6 TMED5_HUMAN transmembrane emp24 protein transport domain 221_222 Cytoplasmic (Potential). transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane ovary(1) 1 all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188) all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797) CTCTTATCTTCAAACAGACTCTTC 0.348 SSR2 6746 broad.mit.edu 37 1 155989853 155989853 + Nonsense_Mutation SNP C A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:155989853C>A uc001fmx.2 - 2 186 c.106G>T c.(106-108)GAG>TAG p.E36* SSR2_uc001fmw.2_RNA|SSR2_uc001fmy.2_RNA|SSR2_uc010pgv.1_Nonsense_Mutation_p.E55*|SSR2_uc010pgw.1_Nonsense_Mutation_p.E55* NM_003145 NP_003136 P43308 SSRB_HUMAN signal sequence receptor, beta precursor 36 Lumenal (Potential). cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCTCGTCCCTCCACGGCGTAT 0.483 OR6K2 81448 broad.mit.edu 37 1 158670186 158670186 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:158670186A>G uc001fsu.1 - 1 257 c.257T>C c.(256-258)CTT>CCT p.L86P NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) CCTCTCACTAAGCAGGCTAGA 0.458 NDUFS2 4720 broad.mit.edu 37 1 161182256 161182256 + Nonsense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:161182256C>T uc001fyv.2 + 11 1550 c.1102C>T c.(1102-1104)CGA>TGA p.R368* NDUFS2_uc001fyw.2_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.1_Nonsense_Mutation_p.R317*|NDUFS2_uc001fyx.2_Nonsense_Mutation_p.R342*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank NM_004550 NP_004541 O75306 NDUS2_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 2 368 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding skin(1) 1 all_cancers(52;1.16e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) NADH(DB00157) TCCACCTAAGCGAGCAGAGAT 0.527 NOS1AP 9722 broad.mit.edu 37 1 162257211 162257213 + In_Frame_Del DEL GAA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:162257211_162257213delGAA uc001gbv.2 + 3 642_644 c.255_257delGAA c.(253-258)CTGAAG>CTG p.K90del NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 90 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AAGTGATTCTGAAGAAGAAGAAA 0.433 TNNT2 7139 broad.mit.edu 37 1 201331099 201331101 + In_Frame_Del DEL TCT - - rs45578238 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr1:201331099_201331101delTCT uc001gwf.2 - 13 719_721 c.650_652delAGA c.(649-654)AAGATT>ATT p.K217del TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_RNA|TNNT2_uc001gwg.2_In_Frame_Del_p.K207del|TNNT2_uc001gwh.2_In_Frame_Del_p.K204del|TNNT2_uc001gwi.2_In_Frame_Del_p.K177del|TNNT2_uc009wzr.2_In_Frame_Del_p.K148del NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 220 Missing (in CMD1D). ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 TCAGCCAGAATCTTCTTCTTCTT 0.576 OREG0014076 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) JMJD1C 221037 broad.mit.edu 37 10 64960280 64960282 + In_Frame_Del DEL TTC - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr10:64960280_64960282delTTC uc001jmn.2 - 11 5530_5532 c.5230_5232delGAA c.(5230-5232)GAAdel p.E1744del JMJD1C_uc001jml.2_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.2_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.1_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1744 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AGTGAGCTGGTTCTTCTCCTTTT 0.350 CYP2E1 1571 broad.mit.edu 37 10 135351261 135351261 + Missense_Mutation SNP G C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr10:135351261G>C uc001lnj.1 + 8 1195 c.1162G>C c.(1162-1164)GTC>CTC p.V388L CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 388 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) CTAGGGCACAGTCGTAGTGCC 0.398 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of MUC5B 727897 broad.mit.edu 37 11 1257593 1257593 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:1257593G>A uc009ycr.1 + 40 5063 c.4937G>A c.(4936-4938)CGG>CAG p.R1646Q MUC5B_uc009yct.1_Intron|MUC5B_uc001ltb.2_Intron|MUC5B_uc001lta.2_Intron NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCGGCTTCCGGCAGCGTCTG 0.677 CHRNA10 57053 broad.mit.edu 37 11 3687783 3687783 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:3687783T>C uc001lyf.2 - 5 979 c.907A>G c.(907-909)ATG>GTG p.M303V CHRNA10_uc010qxt.1_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.1_Missense_Mutation_p.M97V NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 303 Helical; (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) ATAGTGGCCATGTAGTACTTC 0.507 CNGA4 1262 broad.mit.edu 37 11 6261617 6261617 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:6261617G>A uc001mco.2 + 4 700 c.593G>A c.(592-594)CGT>CAT p.R198H CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.R158H NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 198 Cytoplasmic (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTTCGGGCGTGACGCATGG 0.547 OR10A6 390093 broad.mit.edu 37 11 7950020 7950020 + Silent SNP G A A rs141585665 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:7950020G>A uc010rbh.1 - 1 190 c.190C>T c.(190-192)CTG>TTG p.L64L NM_001004461 NP_001004461 Q8NH74 O10A6_HUMAN olfactory receptor, family 10, subfamily A, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GATAAGTTCAGGAGAAACAGG 0.443 SYT13 57586 broad.mit.edu 37 11 45268002 45268002 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:45268002C>T uc001myq.2 - 5 1034 c.908G>A c.(907-909)CGC>CAC p.R303H SYT13_uc009yku.1_Missense_Mutation_p.R159H NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 303 C2 2.|Cytoplasmic (Potential). transport vesicle ovary(1) 1 CACCAGGAGGCGGTTGGCAGC 0.572 PSMC3 5702 broad.mit.edu 37 11 47446172 47446173 + Frame_Shift_Del DEL TT - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:47446172_47446173delTT uc001nfh.2 - 4 569_570 c.375_376delAA c.(373-378)AAAACCfs p.K125fs PSMC3_uc009ylr.1_Frame_Shift_Del_p.K83fs NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 125_126 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) CGTGTAGAGGTTTTGATCACAG 0.545 SSRP1 6749 broad.mit.edu 37 11 57093935 57093937 + In_Frame_Del DEL TTC - - rs142261788 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:57093935_57093937delTTC uc001njt.2 - 17 2341_2343 c.2074_2076delGAA c.(2074-2076)GAAdel p.E692del TNKS1BP1_uc001njs.2_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank NM_003146 NP_003137 Q08945 SSRP1_HUMAN structure specific recognition protein 1 692 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding ovary(2) 2 TACTGGCTAGTTCTTCTTCTTCA 0.552 ODZ4 26011 broad.mit.edu 37 11 78440577 78440577 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:78440577T>C uc001ozl.3 - 22 3713 c.3250A>G c.(3250-3252)ATC>GTC p.I1084V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1084 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 TTGAAGGGGATGGTCGGGTGG 0.567 TMEM126B 55863 broad.mit.edu 37 11 85342819 85342819 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:85342819T>C uc001pao.2 + 3 332 c.80T>C c.(79-81)ATA>ACA p.I27T TMEM126B_uc001pan.1_Missense_Mutation_p.I27T|TMEM126B_uc001pap.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.1_Missense_Mutation_p.I27T NM_018480 NP_060950 Q8IUX1 T126B_HUMAN transmembrane protein 126B 57 integral to membrane 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ATAGAAATCATAGAAAAAAAT 0.353 FOLH1B 219595 broad.mit.edu 37 11 89424051 89424054 + Frame_Shift_Del DEL AAAC - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:89424051_89424054delAAAC uc001pda.2 + 11 1227_1230 c.701_704delAAAC c.(700-705)GAAACAfs p.E234fs NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 234_235 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTTCTGTAGGAAACAAACAAATTC 0.319 ARHGAP32 9743 broad.mit.edu 37 11 128840825 128840825 + Missense_Mutation SNP G C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr11:128840825G>C uc009zcp.2 - 22 4241 c.4241C>G c.(4240-4242)CCC>CGC p.P1414R ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.2_Missense_Mutation_p.P1065R NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1414 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 CCTGGTGGGGGGCAGTGGTGC 0.592 KIAA1467 57613 broad.mit.edu 37 12 13208755 13208755 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr12:13208755G>A uc001rbi.2 + 2 331 c.308G>A c.(307-309)CGC>CAC p.R103H KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 103 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TCATATGTGCGCACGTCTGTC 0.587 HIST4H4 121504 broad.mit.edu 37 12 14923761 14923761 + Silent SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr12:14923761A>G uc001rcf.3 - 1 305 c.258T>C c.(256-258)GAT>GAC p.D86D HIST4H4_uc001rce.2_RNA NM_175054 NP_778224 P62805 H4_HUMAN histone cluster 4, H4 86 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 CGTACACCACATCCATGGCCG 0.587 OREG0021698 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ARID2 196528 broad.mit.edu 37 12 46245922 46245923 + Frame_Shift_Del DEL AG - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr12:46245922_46245923delAG uc001ros.1 + 15 4016_4017 c.4016_4017delAG c.(4015-4017)CAGfs p.Q1339fs ARID2_uc001ror.2_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1339 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTGGGAAACAGAACTCAGAAC 0.371 FREM2 341640 broad.mit.edu 37 13 39425866 39425866 + Silent SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:39425866A>G uc001uwv.2 + 11 7095 c.6786A>G c.(6784-6786)GAA>GAG p.E2262E FREM2_uc001uww.2_Silent_p.E348E NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2262 Extracellular (Potential).|Calx-beta 5. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GTGTCACTGAACCCAAAGAAC 0.348 AKAP11 11215 broad.mit.edu 37 13 42877884 42877884 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:42877884A>G uc001uys.1 + 8 5177 c.5002A>G c.(5002-5004)AGT>GGT p.S1668G NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1668 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AGAGCTGAGCAGTACCAGCCT 0.507 RCBTB2 1102 broad.mit.edu 37 13 49089796 49089796 + Missense_Mutation SNP G C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:49089796G>C uc001vch.2 - 5 495 c.124C>G c.(124-126)CTA>GTA p.L42V RCBTB2_uc010tgg.1_Missense_Mutation_p.L47V|RCBTB2_uc001vci.2_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.1_5'UTR|RCBTB2_uc001vcj.2_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V NM_001268 NP_001259 O95199 RCBT2_HUMAN regulator of chromosome condensation and BTB 42 Ran guanyl-nucleotide exchange factor activity ovary(2)|lung(2)|skin(1) 5 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) ATTAACTGTAGTTCTTCTTCA 0.363 LOC220429 220429 broad.mit.edu 37 13 50465740 50465740 + Silent SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr13:50465740T>C uc001vdk.2 + 1 1196 c.1014T>C c.(1012-1014)ATT>ATC p.I338I NR_003268 Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026). 0 AAATCTATATTCAGTTATCTG 0.333 RNASE4 6038 broad.mit.edu 37 14 21167918 21167918 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr14:21167918C>T uc001vxy.3 + 2 951 c.388C>T c.(388-390)CGT>TGT p.R130C RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.R130C NM_002937 NP_002928 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 precursor 130 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1) 1 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GAGCACTAGACGTGTTGTCAT 0.527 GMPR2 51292 broad.mit.edu 37 14 24707579 24707581 + In_Frame_Del DEL GAA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr14:24707579_24707581delGAA uc001wnr.2 + 9 1207_1209 c.825_827delGAA c.(823-828)ATGAAG>ATG p.K277del GMPR2_uc001wnv.2_In_Frame_Del_p.K114del|GMPR2_uc001wns.2_In_Frame_Del_p.K277del|GMPR2_uc001wnt.2_In_Frame_Del_p.K244del|GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wnw.2_In_Frame_Del_p.K277del|GMPR2_uc010all.2_In_Frame_Del_p.K249del|GMPR2_uc001wnx.2_In_Frame_Del_p.K295del|GMPR2_uc010tod.1_In_Frame_Del_p.K244del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del NM_001002001 NP_001002001 Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 isoform 2 277 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding ovary(3) 3 GBM - Glioblastoma multiforme(265;0.0181) AAATGGCCATGAAGAAGTATGCT 0.537 DUOX2 50506 broad.mit.edu 37 15 45401132 45401132 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:45401132C>T uc010bea.2 - 12 1456 c.1253G>A c.(1252-1254)GGC>GAC p.G418D DUOX2_uc001zun.2_Missense_Mutation_p.G418D NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 418 Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GGAGAATTTGCCAGGGCCAGG 0.552 ALDH1A2 8854 broad.mit.edu 37 15 58256142 58256142 + Missense_Mutation SNP G A A rs137957671 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:58256142G>A uc002aex.2 - 9 1085 c.1027C>T c.(1027-1029)CGG>TGG p.R343W ALDH1A2_uc002aey.2_Missense_Mutation_p.R305W|ALDH1A2_uc010ugv.1_Missense_Mutation_p.R322W|ALDH1A2_uc010ugw.1_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.2_Missense_Mutation_p.R247W NM_003888 NP_003879 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1A2 isoform 1 343 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTCTTGGCCCGCTCCACGCTT 0.527 SCAPER 49855 broad.mit.edu 37 15 77059334 77059336 + In_Frame_Del DEL TTC - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:77059334_77059336delTTC uc002bby.2 - 10 1401_1403 c.1342_1344delGAA c.(1342-1344)GAAdel p.E448del SCAPER_uc002bbx.2_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 447 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 TAGTTAACTGTTCTTCTTCAGCA 0.355 SLC28A1 9154 broad.mit.edu 37 15 85476431 85476431 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr15:85476431C>T uc002blg.2 + 13 1341 c.1139C>T c.(1138-1140)GCC>GTC p.A380V SLC28A1_uc010bnb.2_Missense_Mutation_p.A380V|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 380 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) TGTGCCTTGGCCCTCTCCAAG 0.562 MVP 9961 broad.mit.edu 37 16 29855969 29855969 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:29855969G>A uc002dui.2 + 11 1874 c.1790G>A c.(1789-1791)CGC>CAC p.R597H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R597H|MVP_uc010vea.1_Missense_Mutation_p.R191H NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 597 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 AACTCAGCCCGCATCATTCGC 0.617 MT1A 4489 broad.mit.edu 37 16 56673190 56673190 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:56673190T>C uc002ejq.2 + 2 116 c.43T>C c.(43-45)TGC>CGC p.C15R MT1A_uc002eji.2_Intron NM_005946 NP_005937 P04731 MT1A_HUMAN metallothionein 1A 15 Beta. Divalent metal cation; cluster B. cytoplasm cadmium ion binding|copper ion binding|zinc ion binding 0 CTCCTGCACCTGCACTGGCTC 0.512 SLC12A3 6559 broad.mit.edu 37 16 56901059 56901059 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:56901059C>T uc010ccm.2 + 2 389 c.360C>T c.(358-360)GGC>GGT p.G120G SLC12A3_uc002ekd.3_Silent_p.G120G|SLC12A3_uc010ccn.2_Silent_p.G119G NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 120 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGGTGGAGGGCGAGGCAGGCA 0.652 CNOT1 23019 broad.mit.edu 37 16 58562381 58562385 + Frame_Shift_Del DEL TTAGA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr16:58562381_58562385delTTAGA uc002env.2 - 44 6740_6744 c.6447_6451delTCTAA c.(6445-6453)AATCTAAAGfs p.N2149fs CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.2_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.1_Frame_Shift_Del_p.N1106fs NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2149_2151 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AACCTTACCTTTAGATTAGGAGTGA 0.400 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:7578555C>T uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) CAGGGGAGTACTGTAGGAAGA 0.552 111 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) MYH4 4622 broad.mit.edu 37 17 10350506 10350506 + Missense_Mutation SNP T A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:10350506T>A uc002gmn.2 - 35 5104 c.4993A>T c.(4993-4995)ATC>TTC p.I1665F uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1665 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TGGCCTCTGATGGCATCATCC 0.468 MYH1 4619 broad.mit.edu 37 17 10395868 10395868 + Silent SNP G T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:10395868G>T uc002gmo.2 - 40 5779 c.5685C>A c.(5683-5685)GTC>GTA p.V1895V uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1895 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 TGGAGAGGTTGACGTTGGATT 0.473 DNAH9 1770 broad.mit.edu 37 17 11757746 11757749 + Splice_Site DEL GTGA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:11757746_11757749delGTGA uc002gne.2 + 50 10001 c.9933_splice c.e50+1 p.A3311_splice DNAH9_uc010coo.2_Splice_Site_p.A2605_splice NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAAGATCGCTGTGAGTGACCCCAG 0.515 FAM83G 644815 broad.mit.edu 37 17 18906958 18906958 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:18906958G>A uc002guw.2 - 2 564 c.397C>T c.(397-399)CTG>TTG p.L133L SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 133 ovary(1)|central_nervous_system(1) 2 GGCCAGCCCAGGTCCAGCTGC 0.701 ACACA 31 broad.mit.edu 37 17 35564699 35564701 + In_Frame_Del DEL GGA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:35564699_35564701delGGA uc002hnm.2 - 31 3801_3803 c.3610_3612delTCC c.(3610-3612)TCCdel p.S1204del ACACA_uc002hnk.2_In_Frame_Del_p.S1126del|ACACA_uc002hnl.2_In_Frame_Del_p.S1146del|ACACA_uc002hnn.2_In_Frame_Del_p.S1204del|ACACA_uc002hno.2_In_Frame_Del_p.S1241del|ACACA_uc010cuy.2_5'Flank NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1204 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGTTGAGGTTGGAGGAGAAGGAC 0.473 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A T T rs76270529 by1000genomes TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:39254054A>T uc010wfo.1 - 1 322 c.283T>A c.(283-285)TGC>AGC p.C95S NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN keratin associated protein 4.8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].|15. keratin filament 0 ctggagatgcagcagcTAGGG 0.318 SGSH 6448 broad.mit.edu 37 17 78185892 78185892 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr17:78185892G>A uc002jxz.3 - 7 1014 c.927C>T c.(925-927)AGC>AGT p.S309S SGSH_uc002jya.3_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR NM_000199 NP_000190 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase precursor 309 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGTAGGCCTCGCTGACTTGGC 0.602 SETBP1 26040 broad.mit.edu 37 18 42533090 42533090 + Missense_Mutation SNP G C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr18:42533090G>C uc010dni.2 + 4 4081 c.3785G>C c.(3784-3786)AGA>ACA p.R1262T NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1262 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGCACGAAAAGATACTCTGGC 0.537 Schinzel-Giedion_syndrome MYO5B 4645 broad.mit.edu 37 18 47479673 47479674 + Frame_Shift_Del DEL TC - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr18:47479673_47479674delTC uc002leb.2 - 14 1996_1997 c.1708_1709delGA c.(1708-1710)GACfs p.D570fs MYO5B_uc002lec.1_Frame_Shift_Del_p.D569fs NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 570 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) ATACACCGTGTCTCTGTTTTTC 0.520 ZNF407 55628 broad.mit.edu 37 18 72343319 72343319 + Missense_Mutation SNP C A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr18:72343319C>A uc002llw.2 + 1 401 c.344C>A c.(343-345)ACC>AAC p.T115N ZNF407_uc010xfc.1_Missense_Mutation_p.T115N|ZNF407_uc010dqu.1_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN zinc finger protein 407 isoform 1 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGGAAGGAGACCTTTCTGAGT 0.443 ELANE 1991 broad.mit.edu 37 19 855979 855979 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:855979G>A uc002lqb.2 + 5 657 c.619G>A c.(619-621)GTC>ATC p.V207I NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 207 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGCCCCTTGGTCTGCAACGG 0.657 Kostmann_syndrome TMIGD2 126259 broad.mit.edu 37 19 4298041 4298042 + Frame_Shift_Del DEL TA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:4298041_4298042delTA uc002lzx.1 - 2 393_394 c.347_348delTA c.(346-348)GTAfs p.V116fs TMIGD2_uc010dtv.1_Frame_Shift_Del_p.V116fs NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 116 Extracellular (Potential).|Ig-like. integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGAATCTCTACGGCCGCCCA 0.653 TRIP10 9322 broad.mit.edu 37 19 6751206 6751206 + Missense_Mutation SNP G A A rs139028261 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:6751206G>A uc002mfs.2 + 15 1856 c.1790G>A c.(1789-1791)CGA>CAA p.R597Q TRIP10_uc010dux.1_Missense_Mutation_p.E551K|TRIP10_uc002mfr.2_Missense_Mutation_p.R541Q|TRIP10_uc010duy.2_RNA|TRIP10_uc010duz.2_Missense_Mutation_p.R360Q NM_004240 NP_004231 Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 597 Interaction with PDE6G (By similarity).|SH3.|Required for podosome formation.|Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Required for interaction with FASLG and localization to lysosomes.|Interaction with WAS. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding ovary(1) 1 TCCTACCTCCGAGTCACGCTC 0.612 C19orf43 79002 broad.mit.edu 37 19 12841881 12841881 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:12841881A>G uc002muu.2 - 3 483 c.425T>C c.(424-426)GTA>GCA p.V142A NM_024038 NP_076943 Q9BQ61 CS043_HUMAN hypothetical protein MGC2803 142 0 ACTTGTTAATACCTGTGGAAA 0.547 CYP4F12 66002 broad.mit.edu 37 19 15807863 15807863 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:15807863C>T uc002nbl.2 + 13 1604 c.1543C>T c.(1543-1545)CGG>TGG p.R515W NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) GCTTTGGCTGCGGGTGGAGCC 0.567 USP29 57663 broad.mit.edu 37 19 57641232 57641232 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr19:57641232A>G uc002qny.2 + 4 1545 c.1189A>G c.(1189-1191)ACT>GCT p.T397A NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 397 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CACTTTGAATACTGGGAAAGA 0.383 KIDINS220 57498 broad.mit.edu 37 2 8872006 8872006 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:8872006T>C uc002qzc.2 - 30 4342 c.4160A>G c.(4159-4161)TAT>TGT p.Y1387C KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 1387 Cytoplasmic (Potential). activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTATTCTCTATAGGCATCTCT 0.463 DPYSL5 56896 broad.mit.edu 37 2 27165614 27165616 + In_Frame_Del DEL AGA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:27165614_27165616delAGA uc002rhu.3 + 11 1594_1596 c.1436_1438delAGA c.(1435-1440)GAGAAG>GAG p.K480del DPYSL5_uc002rhv.3_In_Frame_Del_p.K480del NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 480 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ovary(2) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCCAGAGAGAGAAGGTGAGGTG 0.557 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TMEM214 54867 broad.mit.edu 37 2 27258019 27258019 + Missense_Mutation SNP T A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:27258019T>A uc002ria.3 + 3 478 c.368T>A c.(367-369)CTG>CAG p.L123Q TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.L123Q NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 123 integral to membrane protein binding 0 GTGGCAGACCTGCAGAAGGAA 0.537 FAM176A 84141 broad.mit.edu 37 2 75745200 75745200 + Missense_Mutation SNP C A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:75745200C>A uc002sni.2 - 3 545 c.67G>T c.(67-69)GCC>TCC p.A23S FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 23 Necessary for the localization and biological activity. apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 AAGGAATAGGCCGCTAGGATG 0.612 SEPT10 151011 broad.mit.edu 37 2 110350668 110350668 + Missense_Mutation SNP G C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:110350668G>C uc002tew.2 - 2 438 c.59C>G c.(58-60)ACA>AGA p.T20R SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tex.2_Intron|SEPT10_uc002tey.2_Missense_Mutation_p.T20R|SEPT10_uc010ywv.1_5'UTR NM_144710 NP_653311 Q9P0V9 SEP10_HUMAN septin 10 isoform 1 20 cell cycle|cell division septin complex GTP binding 0 CATACAAGTTGTTTTCGTTGC 0.323 NEB 4703 broad.mit.edu 37 2 152518698 152518698 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:152518698T>C uc010fnx.2 - 46 6112 c.5921A>G c.(5920-5922)GAC>GGC p.D1974G NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1974 Nebulin 52. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTTCATCGAGTCCATGAGTGT 0.413 LASS6 253782 broad.mit.edu 37 2 169404150 169404150 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:169404150A>G uc002ueb.1 + 2 339 c.215A>G c.(214-216)AAT>AGT p.N72S LASS6_uc002uec.1_Missense_Mutation_p.N72S NM_203463 NP_982288 Q6ZMG9 CERS6_HUMAN longevity assurance homolog 6 72 Cytoplasmic (Potential).|Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity skin(1) 1 ATTCAGGCCAATGGACCACAA 0.413 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C T T rs121913500 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:209113112C>T uc002vcs.2 - 4 641 c.395G>A c.(394-396)CGT>CAT p.R132H IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 Substrate. R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1) central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393 Mis gliobastoma ZNF142 7701 broad.mit.edu 37 2 219521105 219521105 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr2:219521105C>T uc002vin.2 - 4 484 c.48G>A c.(46-48)GAG>GAA p.E16E ZNF142_uc002vil.2_5'UTR|ZNF142_uc010fvt.2_5'UTR|ZNF142_uc002vim.2_5'UTR|BCS1L_uc002vio.2_5'Flank NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GTCCATCCATCTCCCCGGTGC 0.582 MYH7B 57644 broad.mit.edu 37 20 33572918 33572918 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr20:33572918C>T uc002xbi.1 + 11 1009 c.917C>T c.(916-918)GCG>GTG p.A306V NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 264 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTGGCATCCGCGGATATTGAC 0.642 PTPRT 11122 broad.mit.edu 37 20 40911144 40911144 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr20:40911144G>A uc002xkg.2 - 13 2345 c.2161C>T c.(2161-2163)CGT>TGT p.R721C PTPRT_uc010ggj.2_Missense_Mutation_p.R721C NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 721 Extracellular (Potential).|Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTAGCCAGACGAACACAGTTG 0.348 KCNE1 3753 broad.mit.edu 37 21 35821746 35821746 + Missense_Mutation SNP G T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr21:35821746G>T uc010gmp.2 - 2 617 c.187C>A c.(187-189)CTG>ATG p.L63M KCNE1_uc002ytz.2_Missense_Mutation_p.L63M|KCNE1_uc010gmq.2_Missense_Mutation_p.L63M|KCNE1_uc010gmr.2_Missense_Mutation_p.L63M|KCNE1_uc010gms.2_Missense_Mutation_p.L63M|KCNE1_uc002yua.2_RNA NM_001127670 NP_001121142 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related 63 Helical; (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity ovary(2) 2 Indapamide(DB00808) ATGTAGCTCAGCATGATGCCC 0.592 KRTAP10-2 386679 broad.mit.edu 37 21 45971183 45971183 + Silent SNP C G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr21:45971183C>G uc002zfi.1 - 1 206 c.159G>C c.(157-159)GTG>GTC p.V53V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 53 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1) 1 AGGGGCTGGACACACAGCTCA 0.697 OSBP2 23762 broad.mit.edu 37 22 31137202 31137202 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:31137202G>A uc003aiy.1 + 2 803 c.699G>A c.(697-699)GCG>GCA p.A233A OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 233 PH. lipid transport membrane lipid binding breast(1)|skin(1) 2 TGTCCACCGCGCACATTGACA 0.557 TMPRSS6 164656 broad.mit.edu 37 22 37492125 37492125 + Frame_Shift_Del DEL C - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:37492125delC uc003aqs.1 - 5 551 c.437delG c.(436-438)GGAfs p.G146fs TMPRSS6_uc003aqt.1_Frame_Shift_Del_p.G137fs|TMPRSS6_uc003aqu.2_Frame_Shift_Del_p.G137fs NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 146 Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 GGTGAGGGGTCCCTCCCTAAG 0.567 CYTH4 27128 broad.mit.edu 37 22 37707507 37707507 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:37707507C>T uc003arf.2 + 11 1012 c.896C>T c.(895-897)CCA>CTA p.P299L CYTH4_uc011amw.1_Missense_Mutation_p.P242L|CYTH4_uc010gxe.2_Intron NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN cytohesin 4 299 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 GACAAGGAGCCACGGGGAATT 0.582 DDX17 10521 broad.mit.edu 37 22 38890068 38890069 + Frame_Shift_Del DEL TT - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:38890068_38890069delTT uc003avy.3 - 9 1385_1386 c.1282_1283delAA c.(1282-1284)AAGfs p.K428fs DDX17_uc003avx.3_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.1_Frame_Shift_Del_p.K341fs NM_001098504 NP_001091974 Q92841 DDX17_HUMAN DEAD box polypeptide 17 isoform 3 349 Helicase C-terminal. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity skin(3)|upper_aerodigestive_tract(1) 4 Melanoma(58;0.0286) ACAGCGTCTCTTTGTCTCCACA 0.386 MCHR1 2847 broad.mit.edu 37 22 41077826 41077826 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr22:41077826G>A uc003ayz.2 + 2 1431 c.1163G>A c.(1162-1164)CGC>CAC p.R388H MCHR1_uc003aza.2_Missense_Mutation_p.R277H|uc003azb.1_RNA NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 388 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 GAGACGTTCCGCAAACGCTTG 0.572 NUP210 23225 broad.mit.edu 37 3 13432743 13432743 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:13432743C>T uc003bxv.1 - 4 584 c.501G>A c.(499-501)GCG>GCA p.A167A NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 167 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) AGAACCTGTCCGCCTCGGAGT 0.582 MRPS25 64432 broad.mit.edu 37 3 15094113 15094115 + In_Frame_Del DEL CTC - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:15094113_15094115delCTC uc003bzl.2 - 4 470_472 c.355_357delGAG c.(355-357)GAGdel p.E119del MRPS25_uc011avl.1_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron NM_022497 NP_071942 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 119 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 GCTGCTTTTTCTCCTCCTCCTCT 0.586 NICN1 84276 broad.mit.edu 37 3 49463788 49463788 + Missense_Mutation SNP T G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:49463788T>G uc003cwz.1 - 2 291 c.206A>C c.(205-207)CAC>CCC p.H69P NICN1_uc003cxa.2_RNA|NICN1_uc011bcr.1_Missense_Mutation_p.H69P NM_032316 NP_115692 Q9BSH3 NICN1_HUMAN nicolin 1 69 microtubule|nucleus 0 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGCAGGTGTGTGTGCTGAGGT 0.498 TMEM115 11070 broad.mit.edu 37 3 50396188 50396190 + In_Frame_Del DEL AGA - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:50396188_50396190delAGA uc003dan.1 - 1 750_752 c.305_307delTCT c.(304-309)TTCTCA>TCA p.F102del NM_007024 NP_008955 Q12893 TM115_HUMAN PL6 protein 102 Helical; (Potential). negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCACCACTGAGAAGAAGATGAG 0.601 C3orf17 25871 broad.mit.edu 37 3 112724550 112724550 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:112724550T>C uc003dzr.2 - 9 1598 c.1537A>G c.(1537-1539)ATG>GTG p.M513V GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_Missense_Mutation_p.M138V|C3orf17_uc011bhz.1_Missense_Mutation_p.M138V|C3orf17_uc010hqh.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.2_Missense_Mutation_p.M416V|C3orf17_uc003dzs.2_Missense_Mutation_p.M377V|C3orf17_uc010hqg.2_Missense_Mutation_p.M338V|C3orf17_uc011bia.1_Missense_Mutation_p.M310V|C3orf17_uc003dzu.2_Missense_Mutation_p.M442V|C3orf17_uc011bib.1_Missense_Mutation_p.M402V|C3orf17_uc011bic.1_Missense_Mutation_p.M346V|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 513 integral to membrane 0 ATGACAGGCATTGAAACTCCA 0.388 CCDC37 348807 broad.mit.edu 37 3 126138549 126138549 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:126138549G>A uc003eiu.1 + 9 900 c.801G>A c.(799-801)TCG>TCA p.S267S CCDC37_uc010hsg.1_Silent_p.S268S NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 267 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) ACAAGCTGTCGCCCAAGGAGT 0.488 CP 1356 broad.mit.edu 37 3 148903188 148903188 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:148903188C>T uc003ewy.3 - 12 2376 c.2123G>A c.(2122-2124)GGC>GAC p.G708D CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G489D|CP_uc003ewz.2_Missense_Mutation_p.G708D NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 708 Plastocyanin-like 4.|F5/8 type A 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity ovary(1) 1 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TTGCTTCATGCCGCCTGTGTA 0.368 VEPH1 79674 broad.mit.edu 37 3 157213090 157213090 + Missense_Mutation SNP C A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:157213090C>A uc003fbj.1 - 2 366 c.49G>T c.(49-51)GCT>TCT p.A17S VEPH1_uc003fbk.1_Missense_Mutation_p.A17S|VEPH1_uc010hvu.1_Missense_Mutation_p.A17S|VEPH1_uc003fbm.2_Missense_Mutation_p.A17S|VEPH1_uc003fbn.2_Missense_Mutation_p.A17S NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 17 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) AGGTCCCCAGCTCGTGAAAGA 0.413 TP63 8626 broad.mit.edu 37 3 189607256 189607256 + Silent SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr3:189607256A>G uc003fry.2 + 12 1724 c.1635A>G c.(1633-1635)ACA>ACG p.T545T TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc010hzd.1_Silent_p.T366T NM_003722 NP_003713 Q9H3D4 P63_HUMAN tumor protein p63 isoform 1 545 SAM. 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) CGTATCCCACAGATTGCAGCA 0.597 Hay-Wells_syndrome HNSCC(45;0.13) LGI2 55203 broad.mit.edu 37 4 25019723 25019723 + Missense_Mutation SNP C A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:25019723C>A uc003grf.2 - 6 642 c.543G>T c.(541-543)TGG>TGT p.W181C NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 181 LRRCT. extracellular region 0 Breast(46;0.173) TCATCTTCAACCACAGGTATA 0.373 UGT2A3 79799 broad.mit.edu 37 4 69798344 69798344 + Splice_Site SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:69798344A>G uc003hef.2 - 3 1027 c.996_splice c.e3+1 p.K332_splice UGT2A3_uc010ihp.1_Splice_Site NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GGTTTTACTGACCTTCTGTGG 0.398 USP53 54532 broad.mit.edu 37 4 120213685 120213686 + Frame_Shift_Del DEL CT - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:120213685_120213686delCT uc003ics.3 + 18 3607_3608 c.2541_2542delCT c.(2539-2544)AACTCTfs p.N847fs USP53_uc003icr.3_Frame_Shift_Del_p.N847fs|USP53_uc003icu.3_Frame_Shift_Del_p.N470fs NM_019050 NP_061923 Q70EK8 UBP53_HUMAN ubiquitin specific protease 53 847_848 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity ovary(1)|breast(1)|kidney(1)|skin(1) 4 ACGTTGATAACTCTGCTTCTGG 0.391 PCDH18 54510 broad.mit.edu 37 4 138442804 138442804 + Missense_Mutation SNP G T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:138442804G>T uc003ihe.3 - 4 3174 c.2787C>A c.(2785-2787)GAC>GAA p.D929E PCDH18_uc003ihf.3_Missense_Mutation_p.D921E|PCDH18_uc011cgz.1_Missense_Mutation_p.D140E|PCDH18_uc003ihg.3_Missense_Mutation_p.D708E|PCDH18_uc011cha.1_Missense_Mutation_p.D109E NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 929 Interaction with DAB1 (By similarity).|Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TCCAGCACTGGTCAGAGTGTC 0.498 SPOCK3 50859 broad.mit.edu 37 4 167921580 167921580 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:167921580C>T uc003iri.1 - 5 420 c.279G>A c.(277-279)ATG>ATA p.M93I SPOCK3_uc011cjp.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjq.1_Missense_Mutation_p.M102I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_RNA NM_016950 NP_058646 Q9BQ16 TICN3_HUMAN testican 3 isoform 2 93 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) GACTACATTTCATCTTTAAGC 0.348 MFAP3L 9848 broad.mit.edu 37 4 170926952 170926952 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:170926952G>A uc003isp.3 - 2 255 c.77C>T c.(76-78)GCC>GTC p.A26V MFAP3L_uc003isn.3_5'Flank NM_021647 NP_067679 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like isoform 26 integral to membrane|plasma membrane ovary(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) CTTAGCGGTGGCTAGAGTGGA 0.458 TLR3 7098 broad.mit.edu 37 4 187003773 187003773 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr4:187003773G>A uc003iyq.2 + 4 1034 c.933G>A c.(931-933)CAG>CAA p.Q311Q TLR3_uc011ckz.1_Silent_p.Q34Q|TLR3_uc003iyr.2_Silent_p.Q34Q NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 311 Lumenal (Potential).|LRR 11. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) ATAATATACAGCATTTGTTTT 0.383 SPEF2 79925 broad.mit.edu 37 5 35771803 35771804 + Frame_Shift_Ins INS - A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:35771803_35771804insA uc003jjo.2 + 27 4005_4006 c.3894_3895insA c.(3892-3897)AATAAAfs p.N1298fs SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.2_5'Flank NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1298_1299 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGGGTGCAAATAAAAAAGTCAA 0.426 PIK3R1 5295 broad.mit.edu 37 5 67589619 67589621 + In_Frame_Del DEL GAG - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:67589619_67589621delGAG uc003jva.2 + 11 1942_1944 c.1382_1384delGAG c.(1381-1386)CGAGAA>CAA p.461_462RE>Q PIK3R1_uc003jvb.2_In_Frame_Del_p.461_462RE>Q|PIK3R1_uc003jvc.2_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.2_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.2_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc011crb.1_In_Frame_Del_p.131_132RE>Q NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 461_462 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(2)|p.?(1)|p.F456_R461>S(1)|p.Q457_R461del(1)|p.F456_R461del(1)|p.R461*(1)|p.T454_D464del(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GAAAAAAGTCGAGAATATGATAG 0.281 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) HOMER1 9456 broad.mit.edu 37 5 78752779 78752781 + In_Frame_Del DEL TTC - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:78752779_78752781delTTC uc003kfy.2 - 2 1169_1171 c.66_68delGAA c.(64-69)AAGAAC>AAC p.K22del HOMER1_uc010jab.2_In_Frame_Del_p.K22del|HOMER1_uc010jac.2_In_Frame_Del_p.K22del|HOMER1_uc010jad.2_Intron NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 22 WH1. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) GGGTACCCAGTTCTTCTTTGTGT 0.433 FAT2 2196 broad.mit.edu 37 5 150934173 150934173 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:150934173A>G uc003lue.3 - 4 3708 c.3695T>C c.(3694-3696)ATC>ACC p.I1232T GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1232 Extracellular (Potential).|Cadherin 10. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGTCCAAGATGCCTACCAC 0.552 TIMD4 91937 broad.mit.edu 37 5 156381617 156381617 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:156381617C>T uc003lwh.2 - 2 266 c.209G>A c.(208-210)CGC>CAC p.R70H TIMD4_uc010jii.2_Missense_Mutation_p.R70H NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 70 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCCATCAGTGCGGATGAGCGC 0.522 FGFR4 2264 broad.mit.edu 37 5 176520301 176520301 + Missense_Mutation SNP A C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr5:176520301A>C uc003mfl.2 + 9 1387 c.1220A>C c.(1219-1221)CAG>CCG p.Q407P FGFR4_uc003mfm.2_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 407 Cytoplasmic (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GCCACTGTGCAGAAGCTCTCC 0.692 TSP Lung(9;0.080) KIAA0319 9856 broad.mit.edu 37 6 24563608 24563608 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:24563608A>G uc011djo.1 - 16 2807 c.2570T>C c.(2569-2571)ATT>ACT p.I857T KIAA0319_uc011djp.1_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 857 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 GTGGGCCCGAATCTTCTGGAC 0.567 HIST1H3F 8968 broad.mit.edu 37 6 26250643 26250643 + Missense_Mutation SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:26250643C>T uc003nhg.1 - 1 193 c.191G>A c.(190-192)CGC>CAC p.R64H HIST1H2BH_uc003nhh.2_5'Flank NM_021018 NP_066298 P68431 H31_HUMAN histone cluster 1, H3f 64 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 TGGTAGCTTGCGAATCAGTAG 0.612 OREG0017241 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TULP1 7287 broad.mit.edu 37 6 35477607 35477607 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:35477607T>C uc003okv.3 - 6 610 c.598A>G c.(598-600)AAA>GAA p.K200E TULP1_uc003okw.3_Missense_Mutation_p.K147E NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 200 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 GGCTCACCTTTCTTCTTGGTC 0.592 CAPN11 11131 broad.mit.edu 37 6 44140965 44140965 + Missense_Mutation SNP T A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:44140965T>A uc003owt.1 + 7 711 c.673T>A c.(673-675)TCC>ACC p.S225T NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 225 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTGAGTGGGTCCTATGAAGC 0.617 OREG0017466 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RAB23 51715 broad.mit.edu 37 6 57055306 57055309 + Frame_Shift_Del DEL TTTG - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:57055306_57055309delTTTG uc003pds.2 - 7 870_873 c.664_667delCAAA c.(664-669)CAAAGGfs p.Q222fs RAB23_uc003pdt.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.2_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.2_RNA NM_183227 NP_899050 Q9ULC3 RAB23_HUMAN Ras-related protein Rab-23 222_223 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding skin(1) 1 Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTCTTGGTCCTTTGTTTGTTGGGT 0.387 SPACA1 81833 broad.mit.edu 37 6 88769216 88769216 + Missense_Mutation SNP A C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:88769216A>C uc003pmn.2 + 5 637 c.520A>C c.(520-522)AAG>CAG p.K174Q NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 precursor 174 Extracellular (Potential). integral to membrane 0 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) AGAAGTACGCAAGGAAAGTCA 0.343 ASCC3 10973 broad.mit.edu 37 6 101110219 101110219 + Splice_Site SNP A T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr6:101110219A>T uc003pqk.2 - 15 2807 c.2478_splice c.e15+1 p.K826_splice ASCC3_uc011eai.1_Splice_Site_p.K728_splice NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GTAAGCTCTTACCTTAATAAT 0.398 CCDC129 223075 broad.mit.edu 37 7 31617703 31617703 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:31617703G>A uc003tcj.1 + 8 1818 c.825G>A c.(823-825)GAG>GAA p.E275E CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Silent_p.E301E|CCDC129_uc003tck.1_Silent_p.E183E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 275 0 AGGTATCAGAGTCCTTCAAGG 0.453 LOC168474 168474 broad.mit.edu 37 7 64313091 64313091 + Missense_Mutation SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:64313091T>C uc003ttj.1 - 1 1088 c.536A>G c.(535-537)GAT>GGT p.D179G NR_002789 SubName: Full=Selenophosphate synthetase 1; SubName: Full=Selenophosphate synthetase 1, isoform CRA_a; 0 CTTAGGAATATCCAGCCACTG 0.493 TRIM74 378108 broad.mit.edu 37 7 75028495 75028495 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:75028495G>A uc003udc.1 + 2 478 c.278G>A c.(277-279)CGG>CAG p.R93Q TRIM74_uc010ldc.2_Missense_Mutation_p.R93Q|TRIM74_uc010ldd.2_Missense_Mutation_p.R93Q NM_198924 NP_944606 Q86UV6 TRI74_HUMAN tripartite motif-containing 73 93 B box-type. intracellular zinc ion binding 0 GTGCACCACCGGAACCCGCTC 0.667 SMURF1 57154 broad.mit.edu 37 7 98636097 98636099 + In_Frame_Del DEL GTT - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:98636097_98636099delGTT uc003upu.1 - 15 1998_2000 c.1678_1680delAAC c.(1678-1680)AACdel p.N560del SMURF1_uc003upv.1_In_Frame_Del_p.N534del|SMURF1_uc003upt.2_In_Frame_Del_p.N534del NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 560 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) GCCCGAAGGCGTTGTGTTCCACG 0.512 CFTR 1080 broad.mit.edu 37 7 117180363 117180363 + Missense_Mutation SNP C G G rs75053309 TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:117180363C>G uc003vjd.2 + 8 1211 c.1079C>G c.(1078-1080)ACA>AGA p.T360R CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 360 Cytoplasmic (Potential).|ABC transmembrane type-1 1. QT -> KK (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GCTGTACAAACATGGTATGAC 0.388 Cystic_Fibrosis SND1 27044 broad.mit.edu 37 7 127724820 127724820 + Missense_Mutation SNP G T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:127724820G>T uc003vmi.2 + 19 2381 c.2155G>T c.(2155-2157)GCC>TCC p.A719S SND1_uc010lle.2_Missense_Mutation_p.A372S NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 719 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 CAATGACATTGCCAGTCACCC 0.562 SSPO 23145 broad.mit.edu 37 7 149477563 149477563 + Missense_Mutation SNP C A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr7:149477563C>A uc010lpk.2 + 12 1634 c.1634C>A c.(1633-1635)CCC>CAC p.P545H SSPO_uc010lpl.1_Intron NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 545 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTGTAACCCCTGGTGGGTC 0.627 POLR3D 661 broad.mit.edu 37 8 22106020 22106020 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:22106020C>T uc003xbl.2 + 6 596 c.513C>T c.(511-513)AAC>AAT p.N171N POLR3D_uc003xbm.2_Silent_p.N171N|POLR3D_uc011kze.1_RNA NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 171 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GCCTGAGGAACGACACTCGAA 0.527 KCTD9 54793 broad.mit.edu 37 8 25287394 25287394 + Silent SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:25287394G>A uc003xeo.2 - 12 1307 c.1149C>T c.(1147-1149)CAC>CAT p.H383H PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_RNA NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 383 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) TTTGTGACATGTGTAGTGGTG 0.428 FAM110B 90362 broad.mit.edu 37 8 59058884 59058884 + Missense_Mutation SNP A T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:59058884A>T uc003xtj.1 + 5 975 c.95A>T c.(94-96)AAG>ATG p.K32M NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 32 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) ATCCTGAACAAGGGGCCAGAC 0.657 NCOA2 10499 broad.mit.edu 37 8 71069277 71069277 + Silent SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:71069277A>G uc003xyn.1 - 11 1485 c.1323T>C c.(1321-1323)TTT>TTC p.F441F NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 441 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) CAGAACCACCAAACCTGCCCA 0.502 T RUNXBP2 AML SLC7A13 157724 broad.mit.edu 37 8 87235301 87235301 + Frame_Shift_Del DEL G - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:87235301delG uc003ydq.1 - 2 815 c.717delC c.(715-717)CCCfs p.P239fs SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 239 Cytoplasmic (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 ATATGCATTTGGGAATTGTTG 0.358 NCALD 83988 broad.mit.edu 37 8 102705056 102705056 + Silent SNP T C C TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:102705056T>C uc003yke.2 - 3 816 c.447A>G c.(445-447)ACA>ACG p.T149T NCALD_uc003ykf.2_Silent_p.T149T|NCALD_uc003ykg.2_Silent_p.T149T|NCALD_uc003ykh.2_Silent_p.T149T|NCALD_uc003yki.2_Silent_p.T149T|NCALD_uc003ykj.2_Silent_p.T149T|NCALD_uc003ykk.2_Silent_p.T149T|NCALD_uc003ykl.2_Silent_p.T149T NM_032041 NP_114430 P61601 NCALD_HUMAN neurocalcin delta 149 EF-hand 4. synaptic transmission|vesicle-mediated transport clathrin coat of trans-Golgi network vesicle|cytosol actin binding|calcium ion binding|clathrin binding|tubulin binding 0 all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05) all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699) AGATCTTTTCTGTTCTTTTCT 0.507 PKHD1L1 93035 broad.mit.edu 37 8 110460477 110460477 + Missense_Mutation SNP A G G TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:110460477A>G uc003yne.2 + 39 5986 c.5882A>G c.(5881-5883)AAT>AGT p.N1961S NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1961 Extracellular (Potential).|IPT/TIG 12. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ACCATGGCCAATGATAGTGTG 0.438 HNSCC(38;0.096) FER1L6 654463 broad.mit.edu 37 8 125047566 125047566 + Missense_Mutation SNP G A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:125047566G>A uc003yqw.2 + 19 2541 c.2335G>A c.(2335-2337)GTG>ATG p.V779M uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 779 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAAAGTCGACGTGTACCTGTG 0.493 DGAT1 8694 broad.mit.edu 37 8 145540703 145540703 + Frame_Shift_Del DEL G - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr8:145540703delG uc003zbv.3 - 15 1498 c.1230delC c.(1228-1230)GCCfs p.A410fs DGAT1_uc010mfv.2_Frame_Shift_Del_p.L245fs NM_012079 NP_036211 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 410 Lumenal (Potential). triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGAAGGCCGAGGCCAGGAACA 0.637 FXN 2395 broad.mit.edu 37 9 71687595 71687595 + Nonsense_Mutation SNP G T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:71687595G>T uc004aha.2 + 5 770 c.550G>T c.(550-552)GAG>TAG p.E184* FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I NM_000144 NP_000135 Q16595 FRDA_HUMAN frataxin isoform 1 preproprotein 184 cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion cytosol|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding 0 GTCCCTCCATGAGCTGCTGGC 0.498 TLE4 7091 broad.mit.edu 37 9 82227600 82227600 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:82227600C>T uc004ald.2 + 5 1110 c.261C>T c.(259-261)ATC>ATT p.I87I TLE4_uc004alc.2_Silent_p.I94I|TLE4_uc010mpr.2_5'UTR|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Silent_p.I87I|TLE4_uc010mps.2_Silent_p.I87I|TLE4_uc004alf.2_Silent_p.I32I NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 TGAATGCTATCTGTGCACAAG 0.408 TDRD7 23424 broad.mit.edu 37 9 100235814 100235814 + Missense_Mutation SNP G T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:100235814G>T uc004axj.2 + 11 2210 c.1985G>T c.(1984-1986)TGC>TTC p.C662F TDRD7_uc011lux.1_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.1_Missense_Mutation_p.C11F NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 662 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) ACTAATATTTGCTCTGATGGG 0.443 HSDL2 84263 broad.mit.edu 37 9 115181194 115181194 + Frame_Shift_Del DEL A - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:115181194delA uc004bga.1 + 6 647 c.554delA c.(553-555)GAAfs p.E185fs HSDL2_uc011lwv.1_Frame_Shift_Del_p.E64fs|HSDL2_uc004bgb.1_Frame_Shift_Del_p.N36fs|HSDL2_uc004bgc.1_Frame_Shift_Del_p.E112fs|HSDL2_uc011lww.1_Intron NM_032303 NP_115679 Q6YN16 HSDL2_HUMAN hydroxysteroid dehydrogenase like 2 185 peroxisome oxidoreductase activity|sterol binding 0 ATGGCAGAAGAATTTAAAGGT 0.279 CDK5RAP2 55755 broad.mit.edu 37 9 123313122 123313122 + Missense_Mutation SNP T A A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:123313122T>A uc004bkf.2 - 4 435 c.254A>T c.(253-255)GAG>GTG p.E85V CDK5RAP2_uc004bkg.2_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 85 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CATTCTTTCCTCAAGGAAATA 0.383 TOR1A 1861 broad.mit.edu 37 9 132585088 132585088 + Silent SNP C T T TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chr9:132585088C>T uc004byl.2 - 2 293 c.216G>A c.(214-216)CAG>CAA p.Q72Q TOR1A_uc004bym.2_RNA|TOR1A_uc004byn.2_Silent_p.Q72Q NM_000113 NP_000104 O14656 TOR1A_HUMAN torsin A precursor 72 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1) 1 Ovarian(14;0.00556) TTGCAAGATGCTGTCCAAAGA 0.483 ATRX 546 broad.mit.edu 37 X 76939674 76939675 + Frame_Shift_Del DEL TT - - TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx 56ffaa35-814c-4c0b-b3c6-d4514d34fec2 99337ac4-6bcf-4258-81aa-23c5f807ac5f g.chrX:76939674_76939675delTT uc004ecp.3 - 9 1305_1306 c.1073_1074delAA c.(1072-1074)AAAfs p.K358fs ATRX_uc004ecq.3_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 358 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TCTCAATCAGTTTTTTTGCCTT 0.366 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome