Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter YARS 8565 broad.mit.edu 37 1 33244985 33244985 + Nonsense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:33244985G>A uc001bvy.1 - 12 2262 c.1474C>T c.(1474-1476)CAG>TAG p.Q492* YARS_uc001bvw.1_Nonsense_Mutation_p.Q152*|YARS_uc001bvx.1_Nonsense_Mutation_p.Q143* NM_003680 NP_003671 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 492 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity skin(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) CTTTTTACCTGCAACTTCTCG 0.532 5 218 --- --- --- --- PASS C1orf216 127703 broad.mit.edu 37 1 36181874 36181874 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:36181874C>A uc001bzh.1 - 2 537 c.49G>T c.(49-51)GAC>TAC p.D17Y NM_152374 NP_689587 Q8TAB5 CA216_HUMAN hypothetical protein LOC127703 17 skin(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GGAGGTGGGTCCCCCAGGAAT 0.577 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 69 --- --- --- --- PASS ZC3H12A 80149 broad.mit.edu 37 1 37948064 37948064 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:37948064G>A uc001cbb.3 + 5 998 c.848G>A c.(847-849)CGG>CAG p.R283Q ZC3H12A_uc001cbc.1_Missense_Mutation_p.G13S NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 283 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCACTGGGCCGGCACGGGCCC 0.602 15 264 --- --- --- --- PASS HIVEP3 59269 broad.mit.edu 37 1 42047570 42047570 + Missense_Mutation SNP G A A rs141506685 byFrequency TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:42047570G>A uc001cgz.3 - 4 4112 c.2899C>T c.(2899-2901)CGC>TGC p.R967C HIVEP3_uc001cha.3_Missense_Mutation_p.R967C|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 967 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGTTTGGGGCGCATGTCAGAT 0.612 4 151 --- --- --- --- PASS SPATA6 54558 broad.mit.edu 37 1 48771547 48771547 + Nonsense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:48771547C>A uc001crr.1 - 12 1363 c.1198G>T c.(1198-1200)GAG>TAG p.E400* SPATA6_uc001crs.1_Nonsense_Mutation_p.E384*|SPATA6_uc010omv.1_Nonsense_Mutation_p.E386* NM_019073 NP_061946 Q9NWH7 SPAT6_HUMAN spermatogenesis associated 6 precursor 400 cell differentiation|multicellular organismal development|spermatogenesis extracellular region ovary(1) 1 AGGTCTCTCTCATCCTGAAAA 0.368 6 75 --- --- --- --- PASS C1orf175 374977 broad.mit.edu 37 1 55175632 55175632 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:55175632G>C uc010ooe.1 + 24 4068 c.3744G>C c.(3742-3744)TTG>TTC p.L1248F C1orf175_uc001cxq.2_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.L766F|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Missense_Mutation_p.L449F NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 1248 integral to membrane binding 0 TGGATAACTTGAGACATGACC 0.512 4 172 --- --- --- --- PASS BSND 7809 broad.mit.edu 37 1 55464936 55464936 + Missense_Mutation SNP T A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:55464936T>A uc001cye.2 + 1 320 c.77T>A c.(76-78)ATG>AAG p.M26K NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 26 Helical; (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 ACGTTCCTCATGAGCCATGAT 0.612 42 117 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91818104 91818104 + Missense_Mutation SNP T A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:91818104T>A uc001doa.3 - 16 2036 c.1936A>T c.(1936-1938)ACA>TCA p.T646S HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T325S|HFM1_uc010osv.1_Missense_Mutation_p.T330S NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 646 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AGAATATCTGTTTCACTGTAC 0.328 4 25 --- --- --- --- PASS AGL 178 broad.mit.edu 37 1 100327202 100327202 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:100327202G>A uc001dsi.1 + 3 626 c.226G>A c.(226-228)GAT>AAT p.D76N AGL_uc001dsj.1_Missense_Mutation_p.D76N|AGL_uc001dsk.1_Missense_Mutation_p.D76N|AGL_uc001dsl.1_Missense_Mutation_p.D76N|AGL_uc001dsm.1_Missense_Mutation_p.D60N|AGL_uc001dsn.1_Missense_Mutation_p.D59N NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 76 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AAGAGAAGATGATTCTGATAA 0.338 4 56 --- --- --- --- PASS GPSM2 29899 broad.mit.edu 37 1 109439595 109439595 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:109439595G>A uc010ovc.1 + 3 662 c.166G>A c.(166-168)GAA>AAA p.E56K AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Missense_Mutation_p.E56K|GPSM2_uc010ove.1_Missense_Mutation_p.E56K NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 56 TPR 1. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) AGTTGGAACTGAAGACCTAAA 0.433 5 105 --- --- --- --- PASS ITGA10 8515 broad.mit.edu 37 1 145537822 145537822 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:145537822G>C uc001eoa.2 + 21 2736 c.2660G>C c.(2659-2661)GGA>GCA p.G887A NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.G756A|ITGA10_uc009wiw.2_Missense_Mutation_p.G744A|ITGA10_uc010oyw.1_Missense_Mutation_p.G832A NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 887 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCCAGACTGGAGCCAAGGTG 0.612 18 126 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152323611 152323611 + Silent SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:152323611C>T uc001ezw.3 - 3 6724 c.6651G>A c.(6649-6651)GGG>GGA p.G2217G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2217 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCCCTGTCTCCCATGACCTG 0.522 9 861 --- --- --- --- PASS FLG2 388698 broad.mit.edu 37 1 152326558 152326558 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:152326558C>G uc001ezw.3 - 3 3777 c.3704G>C c.(3703-3705)AGA>ACA p.R1235T uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1235 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTTTCCTGTCTCCCATGAAC 0.483 7 355 --- --- --- --- PASS TMEM79 84283 broad.mit.edu 37 1 156255757 156255757 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:156255757C>G uc010phi.1 + 2 936 c.740C>G c.(739-741)ACC>AGC p.T247S TMEM79_uc001fod.2_Missense_Mutation_p.T88S|TMEM79_uc009wrw.2_Missense_Mutation_p.T247S NM_032323 NP_115699 Q9BSE2 TMM79_HUMAN transmembrane protein 79 247 Helical; (Potential). integral to membrane central_nervous_system(1) 1 Hepatocellular(266;0.158) GTCTTTGCCACCTTCCCCATT 0.602 11 463 --- --- --- --- PASS FCRL2 79368 broad.mit.edu 37 1 157738319 157738319 + Silent SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:157738319C>G uc001fre.2 - 5 827 c.768G>C c.(766-768)CTG>CTC p.L256L FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L256L|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 256 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCTCTGCTGACAGGGAACGCT 0.532 148 222 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183520990 183520990 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:183520990C>T uc001gqg.2 + 22 3460 c.3338C>T c.(3337-3339)TCT>TTT p.S1113F SMG7_uc001gqf.2_Intron|SMG7_uc001gqh.2_Missense_Mutation_p.S1067F|SMG7_uc001gqi.2_Missense_Mutation_p.S1025F|SMG7_uc010poc.1_Missense_Mutation_p.S1121F NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 1113 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CCTGGACCTTCTGCTCTGGAG 0.498 6 68 --- --- --- --- PASS C1orf107 27042 broad.mit.edu 37 1 210010489 210010489 + Missense_Mutation SNP G T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:210010489G>T uc001hhr.1 + 6 1071 c.995G>T c.(994-996)CGC>CTC p.R332L C1orf107_uc009xcu.1_Missense_Mutation_p.R47L NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 332 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) AATAGCAGACGCCGAAGCCAG 0.512 10 36 --- --- --- --- PASS MTR 4548 broad.mit.edu 37 1 237048463 237048463 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:237048463G>C uc001hyi.3 + 26 3142 c.2719G>C c.(2719-2721)GAG>CAG p.E907Q MTR_uc010pxw.1_Missense_Mutation_p.E500Q|MTR_uc010pxx.1_Missense_Mutation_p.E856Q|MTR_uc010pxy.1_Missense_Mutation_p.E761Q NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 907 B12-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TGAATACTTTGAGGAAATCAT 0.348 3 71 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004586 248004586 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:248004586C>A uc001idn.1 - 1 613 c.613G>T c.(613-615)GCC>TCC p.A205S NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACAGCACGGCAATTGACAGG 0.478 91 127 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25048948 25048948 + Missense_Mutation SNP A G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:25048948A>G uc002rfs.3 - 15 2742 c.2543T>C c.(2542-2544)CTC>CCC p.L848P ADCY3_uc002rfr.3_Missense_Mutation_p.L435P|ADCY3_uc010ykm.1_Missense_Mutation_p.L849P NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 848 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GAGCATCATGAGGAACACCAT 0.617 25 40 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25061355 25061355 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:25061355C>G uc002rfs.3 - 7 1691 c.1492G>C c.(1492-1494)GAG>CAG p.E498Q ADCY3_uc002rfr.3_Missense_Mutation_p.E131Q|ADCY3_uc010ykm.1_Missense_Mutation_p.E498Q NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 498 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TTCTTCACCTCTGGCTTGGAG 0.433 4 198 --- --- --- --- PASS ERLEC1 27248 broad.mit.edu 37 2 54024926 54024926 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:54024926G>C uc002rxl.2 + 5 764 c.484G>C c.(484-486)GAA>CAA p.E162Q ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.E162Q|ERLEC1_uc002rxn.2_Missense_Mutation_p.E162Q NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 162 PRKCSH 1. ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 CCTTCTATTTGAAAAAGGTTG 0.289 3 160 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96969005 96969005 + Silent SNP C A A rs115907254 byFrequency TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:96969005C>A uc002svu.2 - 3 359 c.273G>T c.(271-273)TCG>TCT p.S91S NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 91 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 CAATGCCCTCCGACAGCAGAG 0.488 5 818 --- --- --- --- PASS CNGA3 1261 broad.mit.edu 37 2 99013095 99013095 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:99013095G>A uc002syt.2 + 8 1879 c.1462G>A c.(1462-1464)GCA>ACA p.A488T CNGA3_uc002syu.2_Missense_Mutation_p.A470T|CNGA3_uc010fij.2_Missense_Mutation_p.A492T NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 488 cGMP. signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GGACTGTGAGGCAGGGCTGCT 0.557 6 53 --- --- --- --- PASS IHH 3549 broad.mit.edu 37 2 219920495 219920495 + Missense_Mutation SNP T C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:219920495T>C uc002vjo.1 - 3 670 c.670A>G c.(670-672)AGG>GGG p.R224G NM_002181 NP_002172 Q14623 IHH_HUMAN Indian hedgehog homolog precursor 224 cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1) 1 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTCCCGGCCTCACGGCTGAC 0.677 4 104 --- --- --- --- PASS FAM134A 79137 broad.mit.edu 37 2 220047043 220047043 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:220047043C>G uc002vjw.3 + 9 1460 c.1324C>G c.(1324-1326)CTC>GTC p.L442V FAM134A_uc010fwc.2_Missense_Mutation_p.L235V|FAM134A_uc002vjx.2_Intron NM_024293 NP_077269 Q8NC44 F134A_HUMAN hypothetical protein LOC79137 442 endoplasmic reticulum|integral to membrane ovary(1)|central_nervous_system(1) 2 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGTGGTGGCCTCACTGCTCT 0.622 94 176 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220164096 220164096 + Missense_Mutation SNP G T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:220164096G>T uc002vkz.2 - 11 1623 c.1534C>A c.(1534-1536)CCA>ACA p.P512T PTPRN_uc010zlc.1_Missense_Mutation_p.P422T|PTPRN_uc002vla.2_Missense_Mutation_p.P483T NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 512 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GTGAGGGCTGGTCCCACCACA 0.557 OREG0015221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 164 --- --- --- --- PASS COL4A4 1286 broad.mit.edu 37 2 227985759 227985759 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:227985759G>A uc010zlt.1 - 5 952 c.298C>T c.(298-300)CCT>TCT p.P100S NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 100 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCTGCTCCAGGAGGGCCGCGG 0.532 16 96 --- --- --- --- PASS MLPH 79083 broad.mit.edu 37 2 238443205 238443205 + Splice_Site SNP A C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr2:238443205A>C uc002vwt.2 + 9 1248 c.1021_splice c.e9-2 p.I341_splice MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Splice_Site_p.I93_splice NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) CTTCTGCTGCAGATCTTTGAG 0.537 41 118 --- --- --- --- PASS CEP63 80254 broad.mit.edu 37 3 134278014 134278014 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr3:134278014C>T uc003eqo.1 + 15 2145 c.1696C>T c.(1696-1698)CAT>TAT p.H566Y CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 566 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 CCAGCACAGACATGATGGAAT 0.408 12 231 --- --- --- --- PASS ZNF718 255403 broad.mit.edu 37 4 155125 155125 + Missense_Mutation SNP A G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr4:155125A>G uc003fzt.3 + 8 783 c.650A>G c.(649-651)CAT>CGT p.H217R ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_5'UTR NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 217 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CTTACTAAACATAAGAGAATT 0.383 10 4 --- --- --- --- PASS CNO 55330 broad.mit.edu 37 4 6718352 6718352 + Missense_Mutation SNP A G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr4:6718352A>G uc003gjp.1 + 1 511 c.416A>G c.(415-417)GAG>GGG p.E139G NM_018366 NP_060836 Q9NUP1 CNO_HUMAN cappuccino 139 Potential. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol 0 Colorectal(103;0.0523) GACCGGCTGGAGGCCTTCGTG 0.697 3 8 --- --- --- --- PASS NCAPG 64151 broad.mit.edu 37 4 17829940 17829940 + Missense_Mutation SNP T C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr4:17829940T>C uc003gpp.2 + 12 1869 c.1693T>C c.(1693-1695)TAT>CAT p.Y565H NCAPG_uc011bxj.1_Missense_Mutation_p.Y74H NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 565 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TATTTTATGCTATGAACTGTT 0.348 3 52 --- --- --- --- PASS PRMT10 90826 broad.mit.edu 37 4 148582038 148582038 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr4:148582038C>G uc003ilc.2 - 7 1247 c.1105G>C c.(1105-1107)GAG>CAG p.E369Q PRMT10_uc003ilb.2_Missense_Mutation_p.E13Q|PRMT10_uc003ild.2_Missense_Mutation_p.E256Q NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 369 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TCAAAGCACTCTGTCAAAGCC 0.328 3 48 --- --- --- --- PASS PIK3R1 5295 broad.mit.edu 37 5 67569222 67569222 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr5:67569222G>C uc003jva.2 + 3 899 c.339G>C c.(337-339)TTG>TTC p.L113F PIK3R1_uc003jvb.2_Missense_Mutation_p.L113F NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 113 Rho-GAP. 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.?(2) 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) TTGCAGCTTTGACTCTCCCGG 0.423 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) 12 222 --- --- --- --- PASS TNPO1 3842 broad.mit.edu 37 5 72183038 72183038 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr5:72183038C>T uc003kck.3 + 12 1439 c.1292C>T c.(1291-1293)GCA>GTA p.A431V TNPO1_uc011csj.1_Missense_Mutation_p.A381V|TNPO1_uc003kch.2_Missense_Mutation_p.A423V|TNPO1_uc003kci.3_Missense_Mutation_p.A423V|TNPO1_uc003kcg.3_Missense_Mutation_p.A423V NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 431 HEAT 4. interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) GTTTTAGGAGCAATTGCTGAA 0.353 26 42 --- --- --- --- PASS MSH3 4437 broad.mit.edu 37 5 80074605 80074605 + Silent SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr5:80074605C>G uc003kgz.2 + 17 2638 c.2385C>G c.(2383-2385)CTC>CTG p.L795L NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 795 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGAATCAGCTCCGGGAGCAGC 0.393 MMR 9 71 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89921057 89921057 + Silent SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr5:89921057C>T uc003kju.2 + 6 765 c.669C>T c.(667-669)GAC>GAT p.D223D GPR98_uc003kjt.2_Translation_Start_Site NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 223 Calx-beta 2.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TACTCGATGACGAGGTTGGCT 0.453 4 14 --- --- --- --- PASS AFF4 27125 broad.mit.edu 37 5 132228778 132228778 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr5:132228778C>G uc003kyd.2 - 12 2748 c.2340G>C c.(2338-2340)AAG>AAC p.K780N AFF4_uc011cxk.1_Missense_Mutation_p.K458N|AFF4_uc003kye.1_Missense_Mutation_p.K780N NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 780 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTTGGGTTTCTTGCTCTCAC 0.423 15 214 --- --- --- --- PASS PTTG1 9232 broad.mit.edu 37 5 159854787 159854787 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr5:159854787C>T uc003lyj.2 + 5 481 c.436C>T c.(436-438)CTC>TTC p.L146F PTTG1_uc003lyk.2_Missense_Mutation_p.L146F NM_004219 NP_004210 O95997 PTTG1_HUMAN pituitary tumor-transforming protein 1 146 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter cytosol|nucleus cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104) TGGAGTGCCTCTCATGATCCT 0.512 5 69 --- --- --- --- PASS BAT2 7916 broad.mit.edu 37 6 31600358 31600358 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr6:31600358C>A uc003nvb.3 + 16 4157 c.3908C>A c.(3907-3909)GCT>GAT p.A1303D BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.A1303D NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1303 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CGCCGGGCAGCTGCCAAGTCT 0.612 4 128 --- --- --- --- PASS TSPO2 222642 broad.mit.edu 37 6 41010825 41010825 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr6:41010825C>T uc003opj.2 + 2 402 c.101C>T c.(100-102)CCG>CTG p.P34L UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Nonsense_Mutation_p.R44*|TSPO2_uc011dub.1_Missense_Mutation_p.P34L NM_001010873 NP_001010873 Q5TGU0 TSPO2_HUMAN benzodiazapine receptor (peripheral)-like 1 34 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity 0 TGTGAGGGCCCGAGGATGCTG 0.552 5 297 --- --- --- --- PASS PTPRK 5796 broad.mit.edu 37 6 128540114 128540114 + Nonsense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr6:128540114G>C uc003qbk.2 - 6 1188 c.821C>G c.(820-822)TCA>TGA p.S274* PTPRK_uc003qbj.2_Nonsense_Mutation_p.S274*|PTPRK_uc010kfc.2_Nonsense_Mutation_p.S274*|PTPRK_uc011ebu.1_Nonsense_Mutation_p.S274*|PTPRK_uc003qbl.1_Nonsense_Mutation_p.S144*|PTPRK_uc011ebv.1_Nonsense_Mutation_p.S274* NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 274 Extracellular (Potential).|Ig-like C2-type. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACCTCGTTCTGACTGAGTTAC 0.408 34 46 --- --- --- --- PASS NFE2L3 9603 broad.mit.edu 37 7 26225048 26225048 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr7:26225048C>T uc003sxq.2 + 4 2002 c.1730C>T c.(1729-1731)TCA>TTA p.S577L NM_004289 NP_004280 Q9Y4A8 NF2L3_HUMAN nuclear factor erythroid 2-like 3 577 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity skin(3)|ovary(1) 4 CTACAAGTCTCACTTATCCGT 0.373 15 42 --- --- --- --- PASS NT5C3 51251 broad.mit.edu 37 7 33059302 33059302 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr7:33059302C>A uc003tdk.2 - 6 567 c.490G>T c.(490-492)GCT>TCT p.A164S AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.A125S|NT5C3_uc003tdj.2_Missense_Mutation_p.A125S NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 164 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) TTTGGTAAAGCTTGCTGAACA 0.313 4 108 --- --- --- --- PASS AGAP3 116988 broad.mit.edu 37 7 150840549 150840549 + Silent SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr7:150840549C>A uc003wjg.1 + 17 2398 c.2395C>A c.(2395-2397)CGG>AGG p.R799R AGAP3_uc003wje.1_Silent_p.R468R|AGAP3_uc003wjj.1_Silent_p.R298R|AGAP3_uc003wjk.1_Silent_p.R217R NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 763 ANK 1. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 AGATGACCTGCGGCTGTTGGT 0.612 4 68 --- --- --- --- PASS CYC1 1537 broad.mit.edu 37 8 145150845 145150845 + Nonsense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr8:145150845C>A uc003zaz.3 + 2 282 c.239C>A c.(238-240)TCG>TAG p.S80* CYC1_uc003zay.2_Nonsense_Mutation_p.S21* NM_001916 NP_001907 P08574 CY1_HUMAN cytochrome c-1 80 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCTGCATTCGGCTGTGAGT 0.652 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 88 --- --- --- --- PASS RPL8 6132 broad.mit.edu 37 8 146017203 146017203 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr8:146017203C>A uc003zeb.2 - 3 346 c.235G>T c.(235-237)GCC>TCC p.A79S RPL8_uc003zdz.2_RNA|RPL8_uc003zea.2_Intron|RPL8_uc003zec.2_Missense_Mutation_p.A79S|RPL8_uc010mgc.2_Missense_Mutation_p.A79S NM_033301 NP_150644 P62917 RL8_HUMAN ribosomal protein L8 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit rRNA binding|structural constituent of ribosome 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.191) ATGCCCTCGGCGGCAATGAAC 0.642 4 195 --- --- --- --- PASS SLC34A3 142680 broad.mit.edu 37 9 140130450 140130450 + Missense_Mutation SNP G T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr9:140130450G>T uc004cmf.1 + 13 1568 c.1382G>T c.(1381-1383)TGG>TTG p.W461L SLC34A3_uc011met.1_Missense_Mutation_p.W461L NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 461 Helical; Name=M6; (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) ATCCTGCTGTGGTACCTGGTG 0.692 OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 105 --- --- --- --- PASS AKR1C4 1109 broad.mit.edu 37 10 5242169 5242169 + Missense_Mutation SNP T A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr10:5242169T>A uc001ihw.2 + 2 143 c.110T>A c.(109-111)GTC>GAC p.V37D NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 37 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) GCTGTAGAGGTCACCAAATTA 0.398 5 82 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16982213 16982213 + Missense_Mutation SNP T A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr10:16982213T>A uc001ioo.2 - 37 5418 c.5366A>T c.(5365-5367)CAG>CTG p.Q1789L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1789 CUB 12. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCTGCAGTCCTGAGAGTCTTC 0.438 4 195 --- --- --- --- PASS CACNB2 783 broad.mit.edu 37 10 18823121 18823121 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr10:18823121C>T uc001ipr.2 + 11 1231 c.1171C>T c.(1171-1173)CCT>TCT p.P391S CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P367S|CACNB2_uc001ipt.2_Missense_Mutation_p.P353S|CACNB2_uc001ipu.2_Missense_Mutation_p.P363S|CACNB2_uc001ipv.2_Missense_Mutation_p.P339S|CACNB2_uc009xka.1_Missense_Mutation_p.P325S|CACNB2_uc001ipw.2_Missense_Mutation_p.P298S|CACNB2_uc001ipx.2_Missense_Mutation_p.P336S|CACNB2_uc001ipz.2_Missense_Mutation_p.P313S|CACNB2_uc001ipy.2_Missense_Mutation_p.P337S|CACNB2_uc010qco.1_Missense_Mutation_p.P305S|CACNB2_uc001iqa.2_Missense_Mutation_p.P343S|NSUN6_uc001iqb.2_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 391 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity large_intestine(1)|central_nervous_system(1)|skin(1) 3 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTCCTTGGCCCCTATTATAGT 0.368 35 121 --- --- --- --- PASS GPAM 57678 broad.mit.edu 37 10 113928283 113928283 + Splice_Site SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr10:113928283C>A uc009xxy.1 - 11 1093 c.895_splice c.e11-1 p.H299_splice GPAM_uc001kzp.2_Splice_Site_p.H299_splice|GPAM_uc001kzq.1_Splice_Site_p.H299_splice NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) CAACTATATGCTGGGATATAA 0.373 13 35 --- --- --- --- PASS TRUB1 142940 broad.mit.edu 37 10 116732013 116732013 + Missense_Mutation SNP A G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr10:116732013A>G uc001lcd.2 + 6 777 c.716A>G c.(715-717)CAG>CGG p.Q239R TRUB1_uc010qsl.1_Missense_Mutation_p.Q141R NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 239 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CAAAAATTCCAGCCACCATTT 0.353 3 48 --- --- --- --- PASS KCNJ11 3767 broad.mit.edu 37 11 17409221 17409221 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:17409221C>T uc001mna.2 - 1 986 c.418G>A c.(418-420)GAG>AAG p.E140K KCNJ11_uc001mnb.3_Missense_Mutation_p.E53K NM_000525 NP_000516 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel J11 140 integral to membrane ATP-activated inward rectifier potassium channel activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) GGGCACTCCTCAGTCACCATG 0.552 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 40 --- --- --- --- PASS MAPK8IP1 9479 broad.mit.edu 37 11 45924235 45924235 + Missense_Mutation SNP G T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:45924235G>T uc001nbr.2 + 5 1087 c.917G>T c.(916-918)CGG>CTG p.R306L NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 306 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) ACTGAGAGCCGGATGTCAGTC 0.667 13 37 --- --- --- --- PASS OR5L1 219437 broad.mit.edu 37 11 55579660 55579660 + Missense_Mutation SNP A T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:55579660A>T uc001nhw.1 + 1 718 c.718A>T c.(718-720)ACC>TCC p.T240S NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) AGCCTTCTCCACCTGTGCTTC 0.502 29 74 --- --- --- --- PASS LGALS12 85329 broad.mit.edu 37 11 63278578 63278578 + Splice_Site SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:63278578G>C uc001nxa.2 + 6 965 c.624_splice c.e6+1 p.L208_splice LGALS12_uc001nxb.2_Intron|LGALS12_uc001nxc.2_Splice_Site_p.L209_splice|LGALS12_uc001nxd.2_Splice_Site_p.L147_splice|LGALS12_uc001nxe.2_Intron|LGALS12_uc009yot.2_Splice_Site_p.L168_splice NM_033101 NP_149092 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 isoform apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding ovary(2) 2 CCCCAGGCTGGTGAGTGAACC 0.557 8 78 --- --- --- --- PASS MEN1 4221 broad.mit.edu 37 11 64572634 64572634 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:64572634C>G uc001obj.2 - 9 1310 c.1237G>C c.(1237-1239)GAG>CAG p.E413Q MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.E413Q|MEN1_uc001obl.2_Missense_Mutation_p.E373Q|MEN1_uc001obm.2_Missense_Mutation_p.E408Q|MEN1_uc001obn.2_Missense_Mutation_p.E413Q|MEN1_uc001obo.2_Missense_Mutation_p.E413Q|MEN1_uc001obp.2_Missense_Mutation_p.E408Q|MEN1_uc001obq.2_Missense_Mutation_p.E413Q|MEN1_uc001obr.2_Missense_Mutation_p.E413Q NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 413 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 GCGAAGCACTCAGGGTCCTGG 0.627 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 16 97 --- --- --- --- PASS RPS6KB2 6199 broad.mit.edu 37 11 67201893 67201893 + Nonsense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:67201893C>T uc001old.2 + 13 1175 c.1093C>T c.(1093-1095)CAG>TAG p.Q365* RPS6KB2_uc001olf.2_Nonsense_Mutation_p.Q165*|RPS6KB2_uc001olg.2_Nonsense_Mutation_p.Q365*|RPS6KB2_uc009yrq.2_Nonsense_Mutation_p.Q165*|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_RNA|RPS6KB2_uc009yrr.2_Nonsense_Mutation_p.Q196* NM_003952 NP_003943 Q9UBS0 KS6B2_HUMAN ribosomal protein S6 kinase, 70kDa, polypeptide 365 AGC-kinase C-terminal. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation nucleoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1) 7 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CTTCACACGGCAGACGCCGGT 0.647 35 72 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108043367 108043367 + Missense_Mutation SNP T C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:108043367T>C uc001pjz.3 - 13 2446 c.2344A>G c.(2344-2346)AAA>GAA p.K782E NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.K577E NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 782 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TCTGCATTTTTAGTAGGTGAT 0.378 28 56 --- --- --- --- PASS ZW10 9183 broad.mit.edu 37 11 113608372 113608372 + Silent SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:113608372C>T uc001poe.2 - 14 1975 c.1938G>A c.(1936-1938)GTG>GTA p.V646V ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 646 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) AATATATATTCACTGGCAGGA 0.418 14 98 --- --- --- --- PASS CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr11:115080343G>T uc001ppi.3 - 8 1158 c.1029C>A c.(1027-1029)ACC>ACA p.T343T CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Silent_p.T95T NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 343 Extracellular (Potential). PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding ovary(2) 2 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.269 3 39 --- --- --- --- PASS ERC1 23085 broad.mit.edu 37 12 1192740 1192740 + Silent SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr12:1192740G>A uc001qjb.2 + 3 1321 c.1080G>A c.(1078-1080)TTG>TTA p.L360L ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.L360L|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Silent_p.L360L|ERC1_uc010sdv.1_Silent_p.L136L NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 360 Potential. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ACAGTATGTTGAGAGAGGTAT 0.413 7 128 --- --- --- --- PASS TMTC1 83857 broad.mit.edu 37 12 29669355 29669355 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr12:29669355G>A uc001rjb.2 - 15 2384 c.1910C>T c.(1909-1911)TCA>TTA p.S637L TMTC1_uc001riz.2_Missense_Mutation_p.S394L|TMTC1_uc001rja.2_Missense_Mutation_p.S481L|TMTC1_uc001riy.2_Missense_Mutation_p.S90L NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 745 integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) GGTCTCCTCTGACACAATGTG 0.468 4 79 --- --- --- --- PASS TUBA1C 84790 broad.mit.edu 37 12 49666490 49666490 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr12:49666490C>G uc001rtt.1 + 4 930 c.830C>G c.(829-831)TCT>TGT p.S277C TUBA1C_uc001rts.2_Missense_Mutation_p.S242C|TUBA1C_uc010smh.1_Missense_Mutation_p.S347C|uc010smi.1_Missense_Mutation_p.R33T NM_032704 NP_116093 Q9BQE3 TBA1C_HUMAN tubulin alpha 6 277 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 CCTGTCATCTCTGCTGAGAAA 0.532 5 202 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129822298 129822298 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr12:129822298G>A uc009zyl.1 - 4 1508 c.1180C>T c.(1180-1182)CCA>TCA p.P394S NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 394 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGTGTGGCTGGCAGGTCACCA 0.572 5 332 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84454188 84454188 + Silent SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr13:84454188G>A uc001vlk.2 - 1 2341 c.1455C>T c.(1453-1455)TCC>TCT p.S485S NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 485 Extracellular (Potential).|LRR 11. integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CCACAGGCAGGGACCTCAGCA 0.542 27 50 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20403949 20403949 + Missense_Mutation SNP A T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr14:20403949A>T uc001vwj.1 + 1 124 c.124A>T c.(124-126)AAT>TAT p.N42Y NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) AGTGCTAGGCAATGTCTTAAT 0.363 87 166 --- --- --- --- PASS MAP3K9 4293 broad.mit.edu 37 14 71197217 71197217 + Silent SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr14:71197217C>T uc001xmm.2 - 12 3195 c.3195G>A c.(3193-3195)CGG>CGA p.R1065R MAP3K9_uc010ttk.1_Silent_p.R793R|MAP3K9_uc001xmk.2_Silent_p.R798R|MAP3K9_uc001xml.2_Silent_p.R1079R NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 1065 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CCAGGAGCGTCCGCTCAGTCG 0.642 4 89 --- --- --- --- PASS HEATR4 399671 broad.mit.edu 37 14 73974852 73974852 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr14:73974852G>C uc010tub.1 - 9 2189 c.1867C>G c.(1867-1869)CTG>GTG p.L623V HEATR4_uc010tua.1_Missense_Mutation_p.L576V NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TTCTCACTCAGATAGCTCAGG 0.448 3 140 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106110410 106110410 + RNA SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr14:106110410C>T uc010tyt.1 - 3641 c.60959G>A uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA Parts of antibodies, mostly variable regions. 0 CTTACCTGGGCACGGTGGGCA 0.617 13 284 --- --- --- --- PASS SLC12A6 9990 broad.mit.edu 37 15 34548481 34548481 + Missense_Mutation SNP T C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr15:34548481T>C uc001zhw.2 - 6 858 c.694A>G c.(694-696)ATG>GTG p.M232V SLC12A6_uc001zhv.2_Missense_Mutation_p.M181V|SLC12A6_uc001zhx.2_Missense_Mutation_p.M217V|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.M173V|SLC12A6_uc001zib.2_Missense_Mutation_p.M223V|SLC12A6_uc001zic.2_Missense_Mutation_p.M232V|SLC12A6_uc010bau.2_Missense_Mutation_p.M232V|SLC12A6_uc001zid.2_Missense_Mutation_p.M173V|SLC12A6_uc001zhu.2_Missense_Mutation_p.M44V NM_133647 NP_598408 Q9UHW9 S12A6_HUMAN solute carrier family 12, member 6 isoform a 232 Cytoplasmic (Potential). angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|ovary(1)|skin(1) 7 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) GCAGTCAACATTGTCTGCAGA 0.413 15 31 --- --- --- --- PASS SEMA7A 8482 broad.mit.edu 37 15 74703219 74703219 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr15:74703219C>T uc002axv.2 - 14 1787 c.1747G>A c.(1747-1749)GTG>ATG p.V583M SEMA7A_uc010ulk.1_Missense_Mutation_p.V418M|SEMA7A_uc010ull.1_Missense_Mutation_p.V569M NM_003612 NP_003603 O75326 SEM7A_HUMAN semaphorin 7A isoform 1 preproprotein 583 Ig-like C2-type. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(1)|central_nervous_system(1) 2 CTCTGCTCCACGTTCTCCTTG 0.612 62 155 --- --- --- --- PASS PDIA2 64714 broad.mit.edu 37 16 335012 335012 + Silent SNP G A A rs45591741 by1000genomes TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr16:335012G>A uc002cgn.1 + 9 1783 c.675G>A c.(673-675)AAG>AAA p.K225K PDIA2_uc010bqt.1_Silent_p.K70K|PDIA2_uc002cgo.1_Silent_p.K225K NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 225 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TTCTCTTCAAGAAGGTAGGTC 0.632 4 124 --- --- --- --- PASS SMPD3 55512 broad.mit.edu 37 16 68398801 68398801 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr16:68398801C>A uc002ewa.2 - 5 1830 c.1408G>T c.(1408-1410)GCC>TCC p.A470S SMPD3_uc010cfe.2_Missense_Mutation_p.A470S|SMPD3_uc010vlh.1_Missense_Mutation_p.A470S NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 470 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CACCGGATGGCGCTGTCCTCT 0.597 12 31 --- --- --- --- PASS LDHD 197257 broad.mit.edu 37 16 75149555 75149555 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr16:75149555C>G uc002fdm.2 - 2 123 c.76G>C c.(76-78)GAG>CAG p.E26Q LDHD_uc002fdn.2_Missense_Mutation_p.E26Q NM_153486 NP_705690 Q86WU2 LDHD_HUMAN D-lactate dehydrogenase isoform 1 precursor 26 D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding 0 CTGCAGAGCTCTCCCTGCAGG 0.687 3 25 --- --- --- --- PASS CHST5 23563 broad.mit.edu 37 16 75563756 75563756 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr16:75563756G>A uc002fei.2 - 3 1922 c.527C>T c.(526-528)ACG>ATG p.T176M CHST5_uc002fej.1_Missense_Mutation_p.T182M NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 176 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TGGCTGCCGCGTGCACAGTGT 0.662 40 244 --- --- --- --- PASS SPG7 6687 broad.mit.edu 37 16 89623473 89623473 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr16:89623473G>A uc002fnj.2 + 17 2381 c.2360G>A c.(2359-2361)GGA>GAA p.G787E SPG7_uc002fnl.2_Missense_Mutation_p.G196E NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 787 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CCTCCACTTGGAGGCGAAGAG 0.607 OREG0024053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 61 --- --- --- --- PASS SERPINF2 5345 broad.mit.edu 37 17 1650617 1650617 + Missense_Mutation SNP G C C rs121965061 TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:1650617G>C uc002ftk.1 + 7 603 c.526G>C c.(526-528)GAA>CAA p.E176Q SERPINF2_uc010vqr.1_Missense_Mutation_p.E112Q NM_000934 NP_000925 P08697 A2AP_HUMAN alpha-2-antiplasmin isoform a precursor 176 Missing (in APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor). acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) Streptokinase(DB00086) TCCCATCAAAGAAGATTTCCT 0.567 16 19 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:7578403C>A uc002gim.2 - 5 721 c.527G>T c.(526-528)TGC>TTC p.C176F TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 176 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(1)|p.R174fs*3(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) ATGGTGGGGGCAGCGCCTCAC 0.652 111 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) 26 30 --- --- --- --- PASS ITGB3 3690 broad.mit.edu 37 17 45367602 45367602 + Missense_Mutation SNP T A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:45367602T>A uc002ilj.2 + 8 1107 c.1087T>A c.(1087-1089)TCC>ACC p.S363T ITGB3_uc002ili.1_Missense_Mutation_p.S363T|ITGB3_uc010wkr.1_RNA NM_000212 NP_000203 P05106 ITB3_HUMAN integrin beta chain, beta 3 precursor 363 VWFA.|Extracellular (Potential). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding central_nervous_system(5)|large_intestine(1) 6 Abciximab(DB00054)|Tirofiban(DB00775) GTCCATGGATTCCAGCAATGT 0.498 6 270 --- --- --- --- PASS CUEDC1 404093 broad.mit.edu 37 17 55951058 55951058 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:55951058C>G uc002ivd.1 - 4 1204 c.485G>C c.(484-486)GGA>GCA p.G162A CUEDC1_uc002ive.1_Missense_Mutation_p.G162A NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 162 skin(2) 2 TGTAGGGGCTCCAGAGCCCAG 0.612 3 115 --- --- --- --- PASS BZRAP1 9256 broad.mit.edu 37 17 56386399 56386399 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:56386399G>C uc002ivx.3 - 22 5105 c.4234C>G c.(4234-4236)CCT>GCT p.P1412A BZRAP1_uc002ivw.2_5'Flank|BZRAP1_uc010dcs.2_Missense_Mutation_p.P1352A|BZRAP1_uc010wnt.1_Missense_Mutation_p.P1412A NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1412 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCTTCTCAGGGGAGCCCCCT 0.647 25 106 --- --- --- --- PASS MRC2 9902 broad.mit.edu 37 17 60749464 60749464 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:60749464C>G uc002jad.2 + 8 1814 c.1412C>G c.(1411-1413)CCC>CGC p.P471R MRC2_uc002jac.2_Missense_Mutation_p.P471R NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 471 Extracellular (Potential).|C-type lectin 2. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCCTTTGAGCCCAACAACTTC 0.562 5 286 --- --- --- --- PASS KIAA0195 9772 broad.mit.edu 37 17 73492407 73492407 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr17:73492407C>T uc002jnz.3 + 24 3373 c.3098C>T c.(3097-3099)ACC>ATC p.T1033I KIAA0195_uc010wsa.1_Missense_Mutation_p.T1043I|KIAA0195_uc010wsb.1_Missense_Mutation_p.T673I|KIAA0195_uc002job.3_Missense_Mutation_p.T41I NM_014738 NP_055553 Q12767 K0195_HUMAN hypothetical protein LOC9772 1033 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism ovary(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCTGGGAGACCTTTGGCTAC 0.627 22 148 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6913673 6913673 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:6913673G>A uc002mfw.2 + 11 1170 c.1132G>A c.(1132-1134)GAG>AAG p.E378K EMR1_uc010dvc.2_Missense_Mutation_p.E378K|EMR1_uc010dvb.2_Missense_Mutation_p.E326K|EMR1_uc010xji.1_Missense_Mutation_p.E237K|EMR1_uc010xjj.1_Missense_Mutation_p.E201K NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 378 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) GAATACAACTGAGAGCTTTGT 0.438 21 350 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6919644 6919644 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:6919644G>C uc002mfw.2 + 13 1544 c.1506G>C c.(1504-1506)TTG>TTC p.L502F EMR1_uc010dvc.2_Missense_Mutation_p.L502F|EMR1_uc010dvb.2_Missense_Mutation_p.L450F|EMR1_uc010xji.1_Missense_Mutation_p.L361F|EMR1_uc010xjj.1_Missense_Mutation_p.L325F NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 502 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) AGGCTCCCTTGACCACCTCTG 0.493 48 846 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6919665 6919665 + Silent SNP G T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:6919665G>T uc002mfw.2 + 13 1565 c.1527G>T c.(1525-1527)CTG>CTT p.L509L EMR1_uc010dvc.2_Silent_p.L509L|EMR1_uc010dvb.2_Silent_p.L457L|EMR1_uc010xji.1_Silent_p.L368L|EMR1_uc010xjj.1_Silent_p.L332L NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 509 Ser/Thr-rich.|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) AGATCAAGCTGAAGATGAATT 0.478 46 833 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9019622 9019622 + Silent SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:9019622C>T uc002mkp.2 - 22 37728 c.37524G>A c.(37522-37524)CGG>CGA p.R12508R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12510 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GCACAGAGGTCCGATGGGTGA 0.507 386 49 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9057251 9057251 + Silent SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:9057251G>A uc002mkp.2 - 3 30399 c.30195C>T c.(30193-30195)AGC>AGT p.S10065S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10067 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CAGGTTCTGTGCTTGTGTCTG 0.468 9 411 --- --- --- --- PASS ICAM3 3385 broad.mit.edu 37 19 10449393 10449393 + Missense_Mutation SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:10449393G>C uc002mob.2 - 2 363 c.308C>G c.(307-309)TCT>TGT p.S103C ICAM3_uc010dxd.1_Missense_Mutation_p.S26C|ICAM3_uc010xlf.1_Missense_Mutation_p.S26C NM_002162 NP_002153 P32942 ICAM3_HUMAN intercellular adhesion molecule 3 precursor 103 Extracellular (Potential).|Ig-like C2-type 1. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) TGTTATCTGAGAGCCATTGCA 0.567 17 289 --- --- --- --- PASS EMR3 84658 broad.mit.edu 37 19 14752416 14752416 + Missense_Mutation SNP C A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:14752416C>A uc002mzi.3 - 10 1211 c.1063G>T c.(1063-1065)GTG>TTG p.V355L EMR3_uc010dzp.2_Missense_Mutation_p.V303L|EMR3_uc010xnv.1_Missense_Mutation_p.V229L NM_032571 NP_115960 Q9BY15 EMR3_HUMAN egf-like module-containing mucin-like receptor 355 Extracellular (Potential). neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(5)|skin(1) 6 ACAGTCAGCACGGGATCCTCC 0.567 3 67 --- --- --- --- PASS BIRC8 112401 broad.mit.edu 37 19 53793567 53793567 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:53793567C>G uc002qbk.2 - 1 1309 c.61G>C c.(61-63)GAG>CAG p.E21Q NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 21 BIR. apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) GCAAGCTGCTCTTTGTTAACG 0.453 41 84 --- --- --- --- PASS PEG3 5178 broad.mit.edu 37 19 57329195 57329195 + Missense_Mutation SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr19:57329195C>T uc002qnu.2 - 6 1132 c.781G>A c.(781-783)GCT>ACT p.A261T ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Intron|PEG3_uc002qnv.2_Missense_Mutation_p.A261T|PEG3_uc002qnw.2_Missense_Mutation_p.A137T|PEG3_uc002qnx.2_Missense_Mutation_p.A135T|PEG3_uc010etr.2_Missense_Mutation_p.A261T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 261 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCGTCTTCAGCAAGCTGCACT 0.502 10 28 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9546970 9546970 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr20:9546970G>A uc002wnl.2 - 6 1597 c.1052C>T c.(1051-1053)CCC>CTC p.P351L PAK7_uc002wnk.2_Missense_Mutation_p.P351L|PAK7_uc002wnj.2_Missense_Mutation_p.P351L|PAK7_uc010gby.1_Missense_Mutation_p.P351L NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 351 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) AGGGCCCCTGGGGTAGGTGTC 0.527 74 192 --- --- --- --- PASS ZNF337 26152 broad.mit.edu 37 20 25656577 25656577 + Missense_Mutation SNP T A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr20:25656577T>A uc002wva.2 - 4 1869 c.1347A>T c.(1345-1347)AAA>AAT p.K449N uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.K417N|ZNF337_uc002wvb.2_Missense_Mutation_p.K449N|ZNF337_uc002wvc.2_Missense_Mutation_p.K449N NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 449 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGATCTGATGTTTCACAAGGG 0.448 9 189 --- --- --- --- PASS MAPRE1 22919 broad.mit.edu 37 20 31413746 31413746 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr20:31413746G>A uc002wyh.2 + 2 152 c.13G>A c.(13-15)GTA>ATA p.V5I NM_012325 NP_036457 Q15691 MARE1_HUMAN microtubule-associated protein, RP/EB family, 5 cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding 0 GGCAGTGAACGTATACTCAAC 0.443 4 109 --- --- --- --- PASS PACSIN2 11252 broad.mit.edu 37 22 43280505 43280505 + Silent SNP C T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr22:43280505C>T uc010gzg.2 - 6 894 c.672G>A c.(670-672)GAG>GAA p.E224E PACSIN2_uc003bdg.3_Silent_p.E224E|PACSIN2_uc003bde.3_Silent_p.E224E|PACSIN2_uc003bdf.3_Silent_p.E224E NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 224 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) GCTCCATGTTCTCCATGTACT 0.517 13 185 --- --- --- --- PASS GPR173 54328 broad.mit.edu 37 X 53106311 53106311 + Missense_Mutation SNP G A A TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chrX:53106311G>A uc004dru.2 + 2 766 c.508G>A c.(508-510)GAG>AAG p.E170K NM_018969 NP_061842 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 170 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 GTTTATTCGGGAGGAGGACCA 0.557 3 34 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70603899 70603899 + Missense_Mutation SNP C G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chrX:70603899C>G uc004dzu.3 + 13 2083 c.2032C>G c.(2032-2034)CTT>GTT p.L678V BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.L699V NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 678 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) AGATGGTGATCTTATTCTTGC 0.443 3 111 --- --- --- --- PASS MAGT1 84061 broad.mit.edu 37 X 77150833 77150833 + Silent SNP G C C TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chrX:77150833G>C uc004fof.2 - 1 233 c.171C>G c.(169-171)CCC>CCG p.P57P MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Silent_p.P57P NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 25 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 CAGAGGCTGAGGGAACGTCGC 0.562 14 15 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123775819 123775819 + Silent SNP A G G TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chrX:123775819A>G uc004euj.2 - 11 1963 c.1899T>C c.(1897-1899)TGT>TGC p.C633C ODZ1_uc011muj.1_Silent_p.C632C|ODZ1_uc010nqy.2_Silent_p.C633C NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 633 EGF-like 4.|Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CATGGTTGGAACACATTGGGT 0.468 125 90 --- --- --- --- PASS RAB3GAP2 25782 broad.mit.edu 37 1 220363047 220363048 + Frame_Shift_Ins INS - T T TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr1:220363047_220363048insT uc010puk.1 - 17 1940_1941 c.1776_1777insA c.(1774-1779)AAACAAfs p.K592fs RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Frame_Shift_Ins_p.K172fs NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 592_593 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) ACACTTACTTGTTTTTTGGTTG 0.257 4 2 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48881488 48881489 + Frame_Shift_Ins INS - AG AG TCGA-22-4607-01A-01D-1267-08 TCGA-22-4607-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx d8c6bb83-ebdd-4547-9077-3eba5c8bb9f0 d9a1bd0a-4bcd-4a79-8823-353a62b749fd g.chr13:48881488_48881489insAG uc001vcb.2 + 2 376_377 c.210_211insAG c.(208-213)GTCAGAfs p.V70fs RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 70_71 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(13)|p.?(3)|p.V70fs*39(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGATCATGTCAGAGAGAGAGC 0.302 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 65 33 --- --- --- ---