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 CAMTA1 23261 broad.mit.edu 37 1 7725165 7725165 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:7725165C>T uc001aoi.2 + 9 2765 c.2558C>T c.(2557-2559)TCG>TTG p.S853L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 853 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GAGGTGGTCTCGGCCGCCTCG 0.672000 ZNF643 65243 broad.mit.edu 37 1 40928715 40928715 + Missense_Mutation SNP T T A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:40928715T>A uc001cfn.1 + 5 1356 c.1059T>A c.(1057-1059)CAT>CAA p.H353Q ZNF643_uc001cfl.1_Missense_Mutation_p.H251Q|ZNF643_uc001cfm.1_Missense_Mutation_p.H219Q NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN zinc finger protein 643 353 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) TTACTCAACATGTTAGAATTC 0.428000 C1orf168 199920 broad.mit.edu 37 1 57258418 57258418 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:57258418G>C uc001cym.3 - 2 474 c.68C>G c.(67-69)CCT>CGT p.P23R C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.P23R NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 23 ovary(3)|skin(2) 5 TCCTGGAAGAGGTGGAGCATC 0.398000 WDR78 79819 broad.mit.edu 37 1 67306240 67306240 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:67306240G>A uc001dcx.2 - 9 1462 c.1406C>T c.(1405-1407)CCC>CTC p.P469L WDR78_uc001dcy.2_Missense_Mutation_p.P469L|WDR78_uc009waw.2_Missense_Mutation_p.P215L|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 469 ovary(2) 2 CAAGTTGGCGGGTATTGTTGA 0.408000 LPHN2 23266 broad.mit.edu 37 1 82372880 82372880 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:82372880C>T uc001dit.3 + 4 433 c.252C>T c.(250-252)TGC>TGT p.C84C LPHN2_uc001dis.2_Silent_p.C84C|LPHN2_uc001diu.2_Silent_p.C84C|LPHN2_uc001div.2_Silent_p.C84C|LPHN2_uc009wcd.2_Silent_p.C84C NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 84 Extracellular (Potential).|SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATACAGACTGCTACCTCCCCG 0.408000 SLC44A3 126969 broad.mit.edu 37 1 95357932 95357932 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:95357932T>C uc001dqv.3 + 14 1823 c.1716T>C c.(1714-1716)GCT>GCC p.A572A SLC44A3_uc001dqx.3_Silent_p.A571A|SLC44A3_uc010otq.1_Silent_p.A504A|SLC44A3_uc010otr.1_Silent_p.A536A|SLC44A3_uc001dqw.3_Silent_p.A524A|SLC44A3_uc010ots.1_Silent_p.A492A|SLC44A3_uc009wds.2_Silent_p.A475A|SLC44A3_uc010ott.1_Silent_p.A491A NM_001114106 NP_001107578 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 isoform 1 572 Helical; (Potential). integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1) 1 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TATTGGTAGCTTTTTTTGCCT 0.423000 DPYD 1806 broad.mit.edu 37 1 98039509 98039509 + Missense_Mutation SNP T T A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:98039509T>A uc001drv.2 - 11 1283 c.1146A>T c.(1144-1146)GAA>GAT p.E382D NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 382 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CACACTTTTCTTCCTTAGCAA 0.368000 CELSR2 1952 broad.mit.edu 37 1 109806965 109806965 + Missense_Mutation SNP G G A rs142723500 TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:109806965G>A uc001dxa.3 + 10 5328 c.5267G>A c.(5266-5268)CGT>CAT p.R1756H NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 1756 Extracellular (Potential).|Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GGTGTGGCCCGTGGCTTTCGG 0.672000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OVGP1 5016 broad.mit.edu 37 1 111957318 111957318 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:111957318C>T uc001eba.2 - 11 1861 c.1805G>A c.(1804-1806)GGC>GAC p.G602D OVGP1_uc001eaz.2_Missense_Mutation_p.G564D|OVGP1_uc010owb.1_Missense_Mutation_p.G250D NM_002557 NP_002548 Q12889 OVGP1_HUMAN oviductal glycoprotein 1 precursor 602 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity ovary(4)|large_intestine(1) 5 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) GGGGTGAGTGCCCACCTCAGA 0.537000 MOV10 4343 broad.mit.edu 37 1 113239107 113239107 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:113239107C>T uc001eck.2 + 13 2202 c.1932C>T c.(1930-1932)ATC>ATT p.I644I MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.2_Silent_p.I644I|MOV10_uc001ecm.2_Silent_p.I584I|MOV10_uc009wgj.1_3'UTR NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 644 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) ACATCTTCATCGATGAGGCTG 0.567000 FMO5 2330 broad.mit.edu 37 1 146658693 146658693 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:146658693A>G uc001epi.2 - 9 1777 c.1388T>C c.(1387-1389)TTA>TCA p.L463S FMO5_uc001eph.3_Intron|FMO5_uc001epj.2_3'UTR NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 463 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) TCCCAGTAATAAGTGTAATGC 0.532000 SPTA1 6708 broad.mit.edu 37 1 158585084 158585084 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:158585084C>G uc001fst.1 - 48 6909 c.6710G>C c.(6709-6711)GGA>GCA p.G2237A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2237 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTGAGCCAATCCAATGGTGCT 0.527000 OR10J5 127385 broad.mit.edu 37 1 159505686 159505686 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:159505686T>G uc010piw.1 - 1 112 c.112A>C c.(112-114)ACT>CCT p.T38P NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) GCAACCAGAGTTAAAATGTAG 0.398000 OLFML2B 25903 broad.mit.edu 37 1 161967674 161967674 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:161967674G>T uc001gbu.2 - 6 1839 c.1415C>A c.(1414-1416)ACA>AAA p.T472K OLFML2B_uc010pkq.1_Missense_Mutation_p.T473K NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 472 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GGCAGGGGTTGTTCCCCACCC 0.567000 SLC19A2 10560 broad.mit.edu 37 1 169446719 169446719 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:169446719A>C uc001gge.3 - 2 685 c.481T>G c.(481-483)TGT>GGT p.C161G SLC19A2_uc001ggf.3_Intron NM_006996 NP_008927 O60779 S19A2_HUMAN solute carrier family 19, member 2 161 Cytoplasmic (Potential). thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity 0 all_hematologic(923;0.208) GCACTTCGACAGTAACTTGTG 0.483000 FMO1 2326 broad.mit.edu 37 1 171251385 171251385 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:171251385C>T uc009wvz.2 + 7 1232 c.1096C>T c.(1096-1098)CTG>TTG p.L366L FMO1_uc010pme.1_Silent_p.L303L|FMO1_uc001ghl.2_Silent_p.L366L|FMO1_uc001ghm.2_Silent_p.L366L|FMO1_uc001ghn.2_Silent_p.L366L NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 366 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AAAGCCAACCCTGGCCATTAT 0.473000 HMCN1 83872 broad.mit.edu 37 1 185959498 185959498 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:185959498A>G uc001grq.1 + 22 3529 c.3300A>G c.(3298-3300)CCA>CCG p.P1100P HMCN1_uc001grr.1_Silent_p.P441P NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1100 Ig-like C2-type 8. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TAACACTTCCATGTGAAGTGA 0.483000 MARK1 4139 broad.mit.edu 37 1 220825398 220825398 + Nonsense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:220825398C>T uc001hmn.3 + 15 2239 c.1642C>T c.(1642-1644)CGA>TGA p.R548* MARK1_uc009xdw.2_Nonsense_Mutation_p.R548*|MARK1_uc010pun.1_Nonsense_Mutation_p.R548*|MARK1_uc001hmm.3_Nonsense_Mutation_p.R526* NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 548 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) CCCCTCAGCACGACCCCGCCA 0.512000 OR2G6 391211 broad.mit.edu 37 1 248685614 248685614 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr1:248685614C>G uc001ien.1 + 1 667 c.667C>G c.(667-669)CAA>GAA p.Q223E NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 223 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTATCACTCAAGCTGTGTT 0.468000 ARMC3 219681 broad.mit.edu 37 10 23321810 23321810 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr10:23321810G>A uc001irm.3 + 18 2350 c.2267G>A c.(2266-2268)GGT>GAT p.G756D ARMC3_uc010qcv.1_Missense_Mutation_p.G749D|ARMC3_uc010qcw.1_Missense_Mutation_p.G493D NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 756 binding 0 GAAAAAATGGGTGGTAAGATT 0.338000 ENTPD7 57089 broad.mit.edu 37 10 101421366 101421366 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr10:101421366C>G uc001kqa.3 + 3 350 c.172C>G c.(172-174)CGA>GGA p.R58G ENTPD7_uc009xwl.2_Missense_Mutation_p.R60G|SLC25A28_uc001kpy.2_5'Flank NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 58 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TTCATTACCACGAGATAGGCA 0.403000 ACTR1A 10121 broad.mit.edu 37 10 104241914 104241914 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr10:104241914G>A uc001kvv.2 - 8 877 c.769C>T c.(769-771)CGG>TGG p.R257W ACTR1A_uc010qqn.1_Missense_Mutation_p.R183W|ACTR1A_uc010qqo.1_Missense_Mutation_p.R210W NM_005736 NP_005727 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, 257 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1) 1 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) TCAGGGGCCCGGAATCGGGAA 0.582000 PLEKHA1 59338 broad.mit.edu 37 10 124159876 124159876 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr10:124159876G>C uc001lge.1 + 4 339 c.216G>C c.(214-216)AAG>AAC p.K72N PLEKHA1_uc001lgf.1_Missense_Mutation_p.K72N|PLEKHA1_uc001lgg.1_Missense_Mutation_p.K72N|PLEKHA1_uc001lgh.2_Missense_Mutation_p.K72N NM_001001974 NP_001001974 Q9HB21 PKHA1_HUMAN pleckstrin homology domain containing, family A 72 PH 1. B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization cytoplasm|nucleus|ruffle membrane PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding kidney(1) 1 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGCTACTAAGCTAAGGCCAA 0.333000 GPR26 2849 broad.mit.edu 37 10 125434364 125434364 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr10:125434364G>A uc001lhh.2 + 2 752 c.699G>A c.(697-699)AAG>AAA p.K233K NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 233 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) AGGAGCAGAAGCGGAGGCGAC 0.562000 ADAM8 101 broad.mit.edu 37 10 135085440 135085440 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr10:135085440C>T uc010qva.1 - 10 910 c.859G>A c.(859-861)GTG>ATG p.V287M ADAM8_uc010quz.1_Missense_Mutation_p.V326M|ADAM8_uc009ybi.2_Missense_Mutation_p.V326M|ADAM8_uc010qvb.1_3'UTR P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 287 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity p.N287N(1) large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) GCCACGCCCACGGGGTTCTTG 0.647000 QSER1 79832 broad.mit.edu 37 11 32975670 32975670 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr11:32975670A>G uc001mty.2 + 5 4325 c.4058A>G c.(4057-4059)CAA>CGA p.Q1353R QSER1_uc001mtz.1_Missense_Mutation_p.Q1114R|QSER1_uc001mua.2_Missense_Mutation_p.Q858R NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1353 ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) GGAGAAGGCCAATACAGAGAG 0.428000 CAPRIN1 4076 broad.mit.edu 37 11 34107866 34107866 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr11:34107866T>C uc001mvh.1 + 11 1326 c.1137T>C c.(1135-1137)GAT>GAC p.D379D CAPRIN1_uc001mvg.2_Silent_p.D379D|CAPRIN1_uc001mvi.2_Silent_p.D379D|CAPRIN1_uc001mvj.1_Silent_p.D298D NM_005898 NP_005889 Q14444 CAPR1_HUMAN membrane component chromosome 11 surface marker 379 G3BP1-binding. negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) CAATGCTGGATTTTGAAAATC 0.383000 HRASLS5 117245 broad.mit.edu 37 11 63233831 63233831 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr11:63233831C>G uc001nwy.2 - 5 672 c.498G>C c.(496-498)GAG>GAC p.E166D HRASLS5_uc001nwz.2_Missense_Mutation_p.E156D|HRASLS5_uc010rmq.1_Missense_Mutation_p.E166D|HRASLS5_uc009yos.2_RNA NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 166 ovary(1) 1 TGCTGCCCACCTCAAACTCCT 0.498000 PGR 5241 broad.mit.edu 37 11 100912766 100912766 + Silent SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr11:100912766G>C uc001pgh.2 - 7 3299 c.2556C>G c.(2554-2556)CTC>CTG p.L852L PGR_uc001pgg.2_Silent_p.L233L|PGR_uc001pgi.2_Silent_p.L750L|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 852 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTGCCTTGATGAGCTCTCTAA 0.403000 OR8B12 219858 broad.mit.edu 37 11 124413458 124413458 + Silent SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr11:124413458C>A uc010sam.1 - 1 93 c.93G>T c.(91-93)CTG>CTT p.L31L NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TGTAGAAACCCAGAAACAGGA 0.512000 CLEC2B 9976 broad.mit.edu 37 12 10005899 10005899 + Nonstop_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:10005899T>G uc001qwn.2 - 5 1107 c.450A>C c.(448-450)TAA>TAC p.*150Y NM_005127 NP_005118 Q92478 CLC2B_HUMAN C-type lectin, superfamily member 2 150 integral to plasma membrane sugar binding 0 AGACATTAACTTAGTGTATTC 0.358000 MRPS35 60488 broad.mit.edu 37 12 27869258 27869258 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:27869258A>G uc001rih.2 + 3 236 c.188A>G c.(187-189)GAC>GGC p.D63G MRPS35_uc001rii.2_Missense_Mutation_p.D63G NM_021821 NP_068593 P82673 RT35_HUMAN mitochondrial ribosomal protein S35 precursor 63 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit 0 Lung SC(9;0.0873) ATGGCTGTTGACCAGGACTGG 0.388000 TMTC1 83857 broad.mit.edu 37 12 29670473 29670473 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:29670473A>G uc001rjb.2 - 14 2206 c.1732T>C c.(1732-1734)TTG>CTG p.L578L TMTC1_uc001riz.2_Silent_p.L335L|TMTC1_uc001rja.2_Silent_p.L422L|TMTC1_uc001riy.2_Silent_p.L31L NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 686 TPR 7. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) AAAGGTGACAATATCTCAGCT 0.458000 LRRK2 120892 broad.mit.edu 37 12 40653377 40653377 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:40653377T>G uc001rmg.3 + 13 1635 c.1514T>G c.(1513-1515)CTT>CGT p.L505R LRRK2_uc001rmh.1_Missense_Mutation_p.L127R NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 505 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTGGAGGCGCTTCGAGCTATT 0.388000 ACSS3 79611 broad.mit.edu 37 12 81627146 81627146 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:81627146G>C uc001szl.1 + 13 1706 c.1615G>C c.(1615-1617)GAT>CAT p.D539H ACSS3_uc001szm.1_Missense_Mutation_p.D538H|ACSS3_uc001szn.1_Missense_Mutation_p.D221H NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 539 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGATACCATGGATGCTGGTTA 0.343000 ACSS3 79611 broad.mit.edu 37 12 81627200 81627200 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:81627200G>T uc001szl.1 + 13 1760 c.1669G>T c.(1669-1671)GAT>TAT p.D557Y ACSS3_uc001szm.1_Missense_Mutation_p.D556Y|ACSS3_uc001szn.1_Missense_Mutation_p.D239Y NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 557 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TCGAGTGGATGATGTAATAAA 0.373000 ACSS3 79611 broad.mit.edu 37 12 81627237 81627237 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:81627237G>T uc001szl.1 + 13 1797 c.1706G>T c.(1705-1707)GGC>GTC p.G569V ACSS3_uc001szm.1_Missense_Mutation_p.G568V|ACSS3_uc001szn.1_Missense_Mutation_p.G251V NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 569 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 ATTTCTGCAGGCGCCATTGAA 0.398000 ALDH1L2 160428 broad.mit.edu 37 12 105433501 105433501 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:105433501T>G uc001tlc.2 - 17 2162 c.2035A>C c.(2035-2037)ATC>CTC p.I679L ALDH1L2_uc009zuo.2_Missense_Mutation_p.I134L|ALDH1L2_uc009zup.2_RNA NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN aldehyde dehydrogenase 1 family, member L2 679 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding skin(1) 1 CTCTTCATGATCTGTTTGCCA 0.388000 NCOR2 9612 broad.mit.edu 37 12 124950804 124950804 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:124950804G>A uc010tba.1 - 5 737 c.620C>T c.(619-621)CCG>CTG p.P207L NCOR2_uc010tay.1_Missense_Mutation_p.P207L|NCOR2_uc010taz.1_Missense_Mutation_p.P207L|NCOR2_uc010tbb.1_Missense_Mutation_p.P207L|NCOR2_uc010tbc.1_Missense_Mutation_p.P207L|NCOR2_uc001ugj.1_Missense_Mutation_p.P207L|NCOR2_uc001ugk.1_Missense_Mutation_p.P207L NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 207 Potential. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) AGGCTCGGGCGGCTTGGCAGC 0.682000 ZNF10 7556 broad.mit.edu 37 12 133733085 133733085 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:133733085C>T uc009zzb.2 + 5 1700 c.1253C>T c.(1252-1254)TCT>TTT p.S418F ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.S418F NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 418 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) AGCCAGAGATCTCACCTTGTT 0.413000 PABPC3 5042 broad.mit.edu 37 13 25671314 25671314 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr13:25671314G>A uc001upy.2 + 1 1039 c.978G>A c.(976-978)ATG>ATA p.M326I NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 326 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CAAAGGTTATGATGGAAGGTG 0.408000 KDELC1 79070 broad.mit.edu 37 13 103445952 103445952 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr13:103445952T>G uc001vpq.3 - 3 977 c.593A>C c.(592-594)AAG>ACG p.K198T KDELC1_uc001vpr.3_5'UTR NM_024089 NP_076994 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 precursor 198 endoplasmic reticulum lumen ovary(1) 1 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GTGTTGTACCTTGTTATCCTT 0.348000 CARS2 79587 broad.mit.edu 37 13 111298372 111298372 + Missense_Mutation SNP A A G rs146878400 TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr13:111298372A>G uc001vrd.2 - 12 1299 c.1259T>C c.(1258-1260)GTT>GCT p.V420A CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 420 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) GATGGCATCAACCACCCTGGG 0.612000 TOX4 9878 broad.mit.edu 37 14 21961177 21961177 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr14:21961177C>G uc001waz.2 + 7 1505 c.1402C>G c.(1402-1404)CCA>GCA p.P468A TOX4_uc001way.2_Missense_Mutation_p.P338A|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.P445A|TOX4_uc010tlv.1_Missense_Mutation_p.P338A NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 468 Gln/Pro-rich. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GCAGCCTCCTCCACTCCAGGC 0.542000 G2E3 55632 broad.mit.edu 37 14 31085623 31085623 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr14:31085623C>G uc001wqk.2 + 15 2158 c.2004C>G c.(2002-2004)AAC>AAG p.N668K G2E3_uc010tpf.1_Missense_Mutation_p.N622K|G2E3_uc001wql.1_Missense_Mutation_p.N180K NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 668 HECT. apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 AGTGTAATAACTGTTTAGCAA 0.378000 OCA2 4948 broad.mit.edu 37 15 28228581 28228581 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr15:28228581T>G uc001zbh.3 - 14 1523 c.1413A>C c.(1411-1413)GAA>GAC p.E471D OCA2_uc010ayv.2_Missense_Mutation_p.E447D NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 471 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TGAAGATCACTTCTGCAATCA 0.463000 Oculocutaneous_Albinism CLN6 54982 broad.mit.edu 37 15 68504080 68504080 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr15:68504080C>A uc002arf.2 - 4 577 c.419G>T c.(418-420)AGT>ATT p.S140I CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Missense_Mutation_p.S172I NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN CLN6 protein 140 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity 0 CTGGTAGCCACTGAAGAGCAG 0.587000 ADPGK 83440 broad.mit.edu 37 15 73052844 73052844 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr15:73052844G>C uc002avg.3 - 4 641 c.547C>G c.(547-549)CCA>GCA p.P183A ADPGK_uc010ukw.1_Missense_Mutation_p.P125A|ADPGK_uc002avf.3_Missense_Mutation_p.P183A|ADPGK_uc002avi.3_Missense_Mutation_p.P61A|ADPGK_uc002avh.3_5'UTR NM_031284 NP_112574 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 183 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding 0 TGTAGCTTTGGACCAACTGGA 0.498000 IFT140 9742 broad.mit.edu 37 16 1614069 1614069 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr16:1614069C>T uc002cmb.2 - 17 2358 c.1996G>A c.(1996-1998)GTG>ATG p.V666M IFT140_uc002clz.2_Missense_Mutation_p.V317M NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 666 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GTCTCCTGCACGGCTTCGCAT 0.572000 DCUN1D3 123879 broad.mit.edu 37 16 20873428 20873428 + Splice_Site SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr16:20873428A>C uc002dhz.2 - 2 572 c.431_splice c.e2+1 p.R144_splice ERI2_uc002dht.3_Intron NM_173475 NP_775746 Q8IWE4 DCNL3_HUMAN DCN1, defective in cullin neddylation 1, domain negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C perinuclear region of cytoplasm ovary(2) 2 GBM - Glioblastoma multiforme(48;0.249) TTTGTGACTAACCTGGTGAAT 0.517000 CDH8 1006 broad.mit.edu 37 16 61747758 61747758 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr16:61747758G>C uc002eog.1 - 10 1893 c.1641C>G c.(1639-1641)ATC>ATG p.I547M NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 547 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CATTTTTCTTGATGGTGAAAT 0.313000 CDH8 1006 broad.mit.edu 37 16 61935315 61935315 + Silent SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr16:61935315A>C uc002eog.1 - 3 567 c.315T>G c.(313-315)GCT>GCG p.A105A NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 105 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) ATATGGTCCCAGCTCCATCAC 0.408000 TP53 7157 broad.mit.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:7578431G>A uc002gim.2 - 5 693 c.499C>T c.(499-501)CAG>TAG p.Q167* TP53_uc002gig.1_Nonsense_Mutation_p.Q167*|TP53_uc002gih.2_Nonsense_Mutation_p.Q167*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q35*|TP53_uc010cng.1_Nonsense_Mutation_p.Q35*|TP53_uc002gii.1_Nonsense_Mutation_p.Q35*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q167*|TP53_uc010cni.1_Nonsense_Mutation_p.Q167*|TP53_uc002gij.2_Nonsense_Mutation_p.Q167*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q74*|TP53_uc002gio.2_Nonsense_Mutation_p.Q35*|TP53_uc010vug.1_Nonsense_Mutation_p.Q128* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 167 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). QH -> HD (in a sporadic cancer; somatic mutation).|Q -> K (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|QH -> YL (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (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.Q167*(19)|p.Q167fs*14(8)|p.0?(7)|p.Q167R(4)|p.Q167L(3)|p.Q167H(3)|p.Q167Q(3)|p.Q167fs*13(3)|p.Q167fs*3(3)|p.K164fs*3(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.Q167K(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q167E(1)|p.Q167del(1)|p.Q167fs*12(1)|p.S149fs*72(1)|p.Q167_H168>HD(1)|p.Q167_H168>YL(1)|p.Q167fs*4(1)|p.Q165_M169delQSQHM(1)|p.A159_Q167delAMAIYKQSQ(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) GTCATGTGCTGTGACTGCTTG 0.642000 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) FLCN 201163 broad.mit.edu 37 17 17127308 17127308 + Silent SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:17127308G>T uc002gra.3 - 6 1050 c.546C>A c.(544-546)CTC>CTA p.L182L PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.L182L NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 182 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 AGGAGTTGATGAGGTAGATCC 0.582000 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer ULK2 9706 broad.mit.edu 37 17 19687073 19687073 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:19687073G>A uc002gwm.3 - 22 2906 c.2397C>T c.(2395-2397)CCC>CCT p.P799P ULK2_uc002gwn.2_Silent_p.P799P NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 799 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CTAGGCTGGGGGGTGAAGCAC 0.602000 UTP6 55813 broad.mit.edu 37 17 30207692 30207692 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:30207692T>C uc002hgr.2 - 11 950 c.867A>G c.(865-867)GAA>GAG p.E289E UTP6_uc002hgq.2_Silent_p.E105E|UTP6_uc010cst.2_Silent_p.E138E|UTP6_uc010wbw.1_Silent_p.E289E NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 289 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TAGGCTGCTCTTCTGTCTGTG 0.488000 RAPGEFL1 51195 broad.mit.edu 37 17 38346698 38346698 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:38346698T>C uc010cwu.1 + 7 999 c.509T>C c.(508-510)CTC>CCC p.L170P RAPGEFL1_uc010wfd.1_Missense_Mutation_p.L106P NM_016339 NP_057423 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor 376 G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAGGTCCTTCTCCAGCCCACT 0.557000 KRT33A 3883 broad.mit.edu 37 17 39506755 39506755 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:39506755G>A uc002hwk.1 - 1 302 c.265C>T c.(265-267)CGG>TGG p.R89W NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 89 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) GACCGCTCCCGGATGAGGTTC 0.607000 PRPSAP1 5635 broad.mit.edu 37 17 74328423 74328423 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr17:74328423G>A uc010wta.1 - 4 830 c.384C>T c.(382-384)TTC>TTT p.F128F PRPSAP1_uc010wtb.1_Silent_p.F25F NM_002766 NP_002757 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate 99 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity ovary(1) 1 TGCTGTAGGGGAAGTAGGGGA 0.537000 ROCK1 6093 broad.mit.edu 37 18 18539829 18539829 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr18:18539829A>G uc002kte.2 - 29 4425 c.3484T>C c.(3484-3486)TCC>CCC p.S1162P NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 1162 PH.|Auto-inhibitory. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) GATGGATTGGATTGCTCCTTA 0.313000 ASXL3 80816 broad.mit.edu 37 18 31319396 31319396 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr18:31319396G>A uc010dmg.1 + 11 2083 c.2028G>A c.(2026-2028)TTG>TTA p.L676L ASXL3_uc002kxq.2_Silent_p.L383L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 676 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ATGCATCTTTGATGTCAGAAA 0.373000 SHC2 25759 broad.mit.edu 37 19 422149 422149 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:422149G>A uc002loq.3 - 11 1617 c.1617C>T c.(1615-1617)GGC>GGT p.G539G SHC2_uc002lop.3_Silent_p.G280G NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 539 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTTACCACGCCCTCGGGGT 0.682000 MUC16 94025 broad.mit.edu 37 19 9007487 9007487 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:9007487T>C uc002mkp.2 - 43 39685 c.39481A>G c.(39481-39483)ACC>GCC p.T13161A MUC16_uc010dwi.2_5'Flank|MUC16_uc010dwj.2_5'Flank|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13163 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 TGGTACTTACTTGTGGGGCTG 0.458000 ELAVL3 1995 broad.mit.edu 37 19 11565551 11565551 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:11565551G>A uc002mry.1 - 7 1274 c.894C>T c.(892-894)AGC>AGT p.S298S ELAVL3_uc002mrx.1_Silent_p.S291S NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 298 RRM 3. cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 GCCACAGCACGCTCTCGTCTG 0.522000 SLC1A6 6511 broad.mit.edu 37 19 15067316 15067316 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:15067316G>T uc002naa.1 - 6 1149 c.1141C>A c.(1141-1143)CTC>ATC p.L381I SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.L317I NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 381 Helical; (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) GCGGTGATGAGGGCTTGTAGC 0.582000 EPHX3 79852 broad.mit.edu 37 19 15342603 15342603 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:15342603C>T uc002nap.2 - 2 522 c.313G>A c.(313-315)GGC>AGC p.G105S EPHX3_uc002naq.2_Missense_Mutation_p.G105S NM_024794 NP_079070 Q9H6B9 EPHX3_HUMAN abhydrolase domain containing 9 precursor 105 extracellular region hydrolase activity 0 TCAGGGAAGCCGTGCAGAAAC 0.672000 ZNF257 113835 broad.mit.edu 37 19 22271961 22271961 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:22271961A>G uc010ecx.2 + 4 1578 c.1409A>G c.(1408-1410)CAG>CGG p.Q470R ZNF257_uc010ecy.2_Missense_Mutation_p.Q438R NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 470 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) GCCTTTAACCAGTCTTCACAC 0.408000 ZNF257 113835 broad.mit.edu 37 19 22271975 22271975 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:22271975A>T uc010ecx.2 + 4 1592 c.1423A>T c.(1423-1425)ACT>TCT p.T475S ZNF257_uc010ecy.2_Missense_Mutation_p.T443S NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 475 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TTCACACCTTACTCAACATAA 0.393000 ZNF257 113835 broad.mit.edu 37 19 22272025 22272025 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:22272025A>G uc010ecx.2 + 4 1642 c.1473A>G c.(1471-1473)GAA>GAG p.E491E ZNF257_uc010ecy.2_Silent_p.E459E NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 491 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) AATGTGAAGAATGTGGCAAAG 0.398000 ZNF536 9745 broad.mit.edu 37 19 30935907 30935907 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:30935907G>A uc002nsu.1 + 2 1576 c.1438G>A c.(1438-1440)GTC>ATC p.V480I ZNF536_uc010edd.1_Missense_Mutation_p.V480I NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GGCCCACGGCGTCCCGGAGGG 0.662000 SPTBN4 57731 broad.mit.edu 37 19 41000878 41000878 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr19:41000878G>A uc002ony.2 + 6 748 c.662G>A c.(661-663)CGG>CAG p.R221Q SPTBN4_uc002onx.2_Missense_Mutation_p.R221Q|SPTBN4_uc002onz.2_Missense_Mutation_p.R221Q NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 221 Actin-binding.|CH 2. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCATTCACCGGCACAGGTAC 0.502000 SPTBN1 6711 broad.mit.edu 37 2 54891664 54891664 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:54891664C>A uc002rxu.2 + 33 6744 c.6495C>A c.(6493-6495)AGC>AGA p.S2165R SPTBN1_uc010you.1_Missense_Mutation_p.S155R NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 2165 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AAGAGTCCAGCCCCATCCCCT 0.597000 FER1L5 90342 broad.mit.edu 37 2 97361584 97361584 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:97361584C>T uc010fia.2 + 35 4081 c.4081C>T c.(4081-4083)CTC>TTC p.L1361F FER1L5_uc002sws.3_Missense_Mutation_p.L79F|FER1L5_uc010fib.1_RNA|FER1L5_uc002swt.3_Missense_Mutation_p.L79F|FER1L5_uc010yus.1_Missense_Mutation_p.L78F NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 1361 integral to membrane ovary(1) 1 CATCGACTTCCTCCAGCCCTA 0.617000 SH3RF3 344558 broad.mit.edu 37 2 110053479 110053479 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:110053479G>A uc010ywt.1 + 7 1705 c.1705G>A c.(1705-1707)GCC>ACC p.A569T NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 569 zinc ion binding ovary(1) 1 CACCAGGCCCGCCCTGCCCAT 0.657000 ZC3H6 376940 broad.mit.edu 37 2 113088706 113088706 + Silent SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:113088706C>G uc002thq.1 + 12 2605 c.2211C>G c.(2209-2211)CTC>CTG p.L737L NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 737 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 CCACAGAACTCAGCACTCCTA 0.408000 LRP1B 53353 broad.mit.edu 37 2 141272221 141272221 + Splice_Site SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:141272221C>T uc002tvj.1 - 51 9241 c.8269_splice c.e51+1 p.G2757_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACACAACTTACCACAAATGCT 0.318000 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141625336 141625336 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:141625336A>T uc002tvj.1 - 27 5374 c.4402T>A c.(4402-4404)TAC>AAC p.Y1468N LRP1B_uc010fnl.1_Missense_Mutation_p.Y650N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1468 Extracellular (Potential).|LDL-receptor class B 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGGAAAGGTATTCATGACCT 0.423000 TSP Lung(27;0.18) ARHGAP15 55843 broad.mit.edu 37 2 144245037 144245037 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:144245037A>C uc002tvm.3 + 9 950 c.799A>C c.(799-801)ACT>CCT p.T267P ARHGAP15_uc002tvn.2_Missense_Mutation_p.T33P NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 267 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TTCCCTGAAAACTCTGCAAGA 0.373000 ZEB2 9839 broad.mit.edu 37 2 145147197 145147197 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:145147197C>A uc002tvu.2 - 10 3946 c.3466G>T c.(3466-3468)GGC>TGC p.G1156C ZEB2_uc002tvv.2_Missense_Mutation_p.G1150C|ZEB2_uc010zbm.1_Missense_Mutation_p.G1127C|ZEB2_uc010fnp.2_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 1156 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCTCGTCGCCATCCTGTCTG 0.532000 DNAH7 56171 broad.mit.edu 37 2 196636411 196636411 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:196636411C>T uc002utj.3 - 61 11507 c.11406G>A c.(11404-11406)TCG>TCA p.S3802S DNAH7_uc002uti.3_Silent_p.S285S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3802 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 TATTTACGCACGAATCTCTTA 0.328000 GTF3C3 9330 broad.mit.edu 37 2 197639881 197639881 + Nonsense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:197639881G>C uc002uts.2 - 13 1880 c.1790C>G c.(1789-1791)TCA>TGA p.S597* GTF3C3_uc010zgu.1_Nonsense_Mutation_p.S568* NM_012086 NP_036218 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 597 transcription factor TFIIIC complex DNA binding|protein binding ovary(3)|breast(3)|pancreas(1) 7 ATTGCTGTCTGATATTTTGTC 0.348000 ALPP 250 broad.mit.edu 37 2 233243531 233243531 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr2:233243531C>G uc002vsq.2 + 1 184 c.19C>G c.(19-21)CTG>GTG p.L7V ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 7 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCCCTGCAtgctgctgctgct 0.542000 TGM3 7053 broad.mit.edu 37 20 2321089 2321089 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:2321089C>T uc002wfx.3 + 13 2041 c.1944C>T c.(1942-1944)ACC>ACT p.T648T NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 648 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) GCGTGCCGACCCTAGGGCCCA 0.617000 PHF20 51230 broad.mit.edu 37 20 34501210 34501210 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:34501210A>G uc002xek.1 + 11 1712 c.1601A>G c.(1600-1602)AAG>AGG p.K534R PHF20_uc002xei.1_Missense_Mutation_p.K534R|PHF20_uc010gfo.1_Missense_Mutation_p.K534R|PHF20_uc002xej.1_Missense_Mutation_p.K418R|PHF20_uc002xem.1_RNA NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 534 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) aagaaattcaaggagtttgtg 0.199000 MATN4 8785 broad.mit.edu 37 20 43926920 43926920 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:43926920G>A uc002xnn.2 - 7 1503 c.1316C>T c.(1315-1317)GCG>GTG p.A439V MATN4_uc002xno.2_Missense_Mutation_p.A398V|MATN4_uc002xnp.2_Missense_Mutation_p.A357V|MATN4_uc010zwr.1_Missense_Mutation_p.A387V|MATN4_uc002xnr.1_Missense_Mutation_p.A439V NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 480 VWFA 2. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) TGCACCCTGCGCCTCGGAGAA 0.677000 NFATC2 4773 broad.mit.edu 37 20 50139845 50139845 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:50139845G>A uc002xwd.2 - 2 1155 c.935C>T c.(934-936)ACG>ATG p.T312M NFATC2_uc002xwc.2_Missense_Mutation_p.T312M|NFATC2_uc010zyv.1_Missense_Mutation_p.T93M|NFATC2_uc010zyw.1_Missense_Mutation_p.T93M|NFATC2_uc010zyx.1_Missense_Mutation_p.T292M|NFATC2_uc010zyy.1_Missense_Mutation_p.T93M|NFATC2_uc010zyz.1_Missense_Mutation_p.T93M|NFATC2_uc002xwe.2_Missense_Mutation_p.T292M NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 312 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) AGGCGAGTCCGTGGCGAGGCT 0.687000 ZNF217 7764 broad.mit.edu 37 20 52193274 52193274 + Silent SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:52193274T>G uc002xwq.3 - 3 2300 c.2029A>C c.(2029-2031)AGG>CGG p.R677R ZNF217_uc010gij.1_Silent_p.R669R NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 677 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) ACACTTGGCCTGTATCTGCAG 0.473000 RAE1 8480 broad.mit.edu 37 20 55949675 55949675 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:55949675G>A uc002xyg.2 + 11 1179 c.838G>A c.(838-840)GCG>ACG p.A280T RAE1_uc010gis.1_Missense_Mutation_p.A233T|RAE1_uc010git.1_Missense_Mutation_p.A280T|RAE1_uc002xyh.2_Missense_Mutation_p.A280T|RAE1_uc002xyi.2_Missense_Mutation_p.A280T NM_003610 NP_003601 P78406 RAE1L_HUMAN RAE1 (RNA export 1, S.pombe) homolog 280 WD 4. carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore microtubule binding|RNA binding 0 Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08) AAATGGAATCGCGTTCCATCC 0.493000 LAMA5 3911 broad.mit.edu 37 20 60887023 60887023 + Silent SNP G G A rs139135120 TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr20:60887023G>A uc002ycq.2 - 70 9655 c.9588C>T c.(9586-9588)TTC>TTT p.F3196F NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3196 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACCATCGGCGAAGCCCGCTT 0.652000 TPTE 7179 broad.mit.edu 37 21 10906954 10906954 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr21:10906954A>C uc002yip.1 - 24 1975 c.1607T>G c.(1606-1608)CTT>CGT p.L536R TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.L518R|TPTE_uc002yir.1_Missense_Mutation_p.L498R|TPTE_uc010gkv.1_Missense_Mutation_p.L398R NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 536 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CTCGCCAAAAAGTATCTCCAC 0.378000 DONSON 29980 broad.mit.edu 37 21 34957049 34957049 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr21:34957049C>G uc002ysk.2 - 4 699 c.632G>C c.(631-633)CGT>CCT p.R211P DONSON_uc002ysn.1_Missense_Mutation_p.R94P|DONSON_uc002ysi.1_Intron|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.R184P|DONSON_uc002ysm.2_Missense_Mutation_p.R211P NM_017613 NP_060083 Q9NYP3 DONS_HUMAN downstream neighbor of SON 211 multicellular organismal development nucleus ovary(1)|central_nervous_system(1) 2 GAAGGTACAACGGAGCTCAGA 0.443000 ELFN2 114794 broad.mit.edu 37 22 37769783 37769783 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr22:37769783G>A uc003asq.3 - 3 2578 c.1792C>T c.(1792-1794)CGG>TGG p.R598W NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 598 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) AAGCTGGGCCGCTCCAGGGCC 0.711000 KCNJ4 3761 broad.mit.edu 37 22 38823394 38823394 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr22:38823394G>A uc003avs.1 - 2 841 c.744C>T c.(742-744)ATC>ATT p.I248I KCNJ4_uc003avt.1_Silent_p.I248I NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 248 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) GGTCCAGGCCGATGTCATAGC 0.632000 EFCAB6 64800 broad.mit.edu 37 22 43926804 43926804 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr22:43926804A>T uc003bdy.1 - 31 4489 c.4274T>A c.(4273-4275)CTG>CAG p.L1425Q EFCAB6_uc003bdz.1_Missense_Mutation_p.L1273Q|EFCAB6_uc010gzi.1_Missense_Mutation_p.L1273Q NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1425 Interaction with AR.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) AATACGCAGCAGAGCAGAGTA 0.542000 CNTN6 27255 broad.mit.edu 37 3 1394007 1394007 + Splice_Site SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:1394007G>C uc003boz.2 + 12 1632 c.1365_splice c.e12-1 p.R455_splice CNTN6_uc011asj.1_Splice_Site_p.R383_splice|CNTN6_uc003bpa.2_Splice_Site_p.R455_splice NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTTCTTTTTAGAATATTTCTC 0.328000 CNTN6 27255 broad.mit.edu 37 3 1424781 1424781 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:1424781T>G uc003boz.2 + 18 2589 c.2322T>G c.(2320-2322)TTT>TTG p.F774L CNTN6_uc011asj.1_Missense_Mutation_p.F702L|CNTN6_uc003bpa.2_Missense_Mutation_p.F774L NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 774 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGTCTCCCTTTGAAGTCAAAG 0.468000 SLC25A38 54977 broad.mit.edu 37 3 39433101 39433101 + Missense_Mutation SNP C C T rs143865753 TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:39433101C>T uc003cjo.2 + 4 847 c.446C>T c.(445-447)ACG>ATG p.T149M NM_017875 NP_060345 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 149 Solcar 2. erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GTAATCAAGACGCGCTATGAG 0.562000 P4HTM 54681 broad.mit.edu 37 3 49027828 49027828 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:49027828C>T uc003cvg.2 + 1 488 c.139C>T c.(139-141)CGT>TGT p.R47C P4HTM_uc003cvh.2_Missense_Mutation_p.R47C NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 47 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) CGCACCGGTGCGTCCGCTGTG 0.731000 LAMB2 3913 broad.mit.edu 37 3 49160188 49160188 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:49160188C>T uc003cwe.2 - 27 4821 c.4522G>A c.(4522-4524)GCC>ACC p.A1508T USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1508 Potential.|Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCCTGGTTGGCCTGTTCCACC 0.597000 TMEM115 11070 broad.mit.edu 37 3 50396054 50396054 + Silent SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:50396054C>G uc003dan.1 - 1 886 c.441G>C c.(439-441)GTG>GTC p.V147V NM_007024 NP_008955 Q12893 TM115_HUMAN PL6 protein 147 Helical; (Potential). negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus 0 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GCTTGAGTGCCACCAGGACGC 0.517000 HTR1F 3355 broad.mit.edu 37 3 88040851 88040851 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:88040851G>A uc003dqr.2 + 2 1110 c.952G>A c.(952-954)GTC>ATC p.V318I NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 318 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) AGTTGTTAATGTCTGTGACAA 0.348000 DZIP3 9666 broad.mit.edu 37 3 108380769 108380769 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:108380769G>A uc003dxd.2 + 20 2667 c.2245G>A c.(2245-2247)GAA>AAA p.E749K DZIP3_uc003dxf.1_Missense_Mutation_p.E749K|DZIP3_uc011bhm.1_Missense_Mutation_p.E200K NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 749 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AACTGAAAAGGAAAGGCTTGC 0.348000 ITGB5 3693 broad.mit.edu 37 3 124527925 124527925 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:124527925C>A uc003eho.2 - 9 1504 c.1207G>T c.(1207-1209)GAT>TAT p.D403Y ITGB5_uc010hrx.2_Intron NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 403 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) GATACCCCATCTTGGCAGGTA 0.463000 COL6A6 131873 broad.mit.edu 37 3 130381114 130381114 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:130381114G>A uc010htl.2 + 34 6495 c.6464G>A c.(6463-6465)GGT>GAT p.G2155D COL6A6_uc003eni.3_Missense_Mutation_p.G254D NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 2155 VWFA 9.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CACAGTTATGGTGTGAAGTTT 0.418000 STAG1 10274 broad.mit.edu 37 3 136342064 136342064 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:136342064T>C uc003era.1 - 3 348 c.56A>G c.(55-57)CAT>CGT p.H19R STAG1_uc003erb.1_Missense_Mutation_p.H19R|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.2_Missense_Mutation_p.H19R NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 19 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AGCATCGGAATGGGCAGTAGT 0.388000 ATP1B3 483 broad.mit.edu 37 3 141644421 141644421 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:141644421A>G uc003eug.1 + 7 892 c.718A>G c.(718-720)AAC>GAC p.N240D ATP1B3_uc011bne.1_RNA|ATP1B3_uc003euh.1_Missense_Mutation_p.N226D|ATP1B3_uc003eui.1_RNA NM_001679 NP_001670 P54709 AT1B3_HUMAN Na+/K+ -ATPase beta 3 subunit 240 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity 0 CTTTGCTCCTAACAACACTGG 0.388000 PHC3 80012 broad.mit.edu 37 3 169840471 169840471 + Missense_Mutation SNP C C T rs146149780 by1000genomes TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr3:169840471C>T uc010hws.1 - 9 1878 c.1814G>A c.(1813-1815)CGG>CAG p.R605Q PHC3_uc003fgl.2_Missense_Mutation_p.R617Q|PHC3_uc011bpq.1_Missense_Mutation_p.R564Q NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN polyhomeotic like 3 605 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) TCTATCCATCCGGACACATTC 0.433000 IL8 3576 broad.mit.edu 37 4 74607379 74607379 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr4:74607379C>T uc003hhe.2 + 2 286 c.185C>T c.(184-186)GCC>GTC p.A62V IL8_uc011cbh.1_Missense_Mutation_p.A62V NM_000584 NP_000575 P10145 IL8_HUMAN interleukin 8 precursor 62 angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication extracellular space|intracellular chemokine activity|interleukin-8 receptor binding ovary(2) 2 Breast(15;0.00102) all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) LUSC - Lung squamous cell carcinoma(721;0.008) Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744) CCACACTGCGCCAACACAGAA 0.318000 G3BP2 9908 broad.mit.edu 37 4 76570710 76570710 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr4:76570710T>C uc003hir.2 - 12 1518 c.1353A>G c.(1351-1353)GGA>GGG p.G451G G3BP2_uc003his.2_Silent_p.G451G|G3BP2_uc003hit.2_Silent_p.G418G NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 451 Gly-rich. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GAGGTCCTCTTCCATCACGAT 0.577000 PAQR3 152559 broad.mit.edu 37 4 79860320 79860320 + Nonsense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr4:79860320C>T uc003hlp.1 - 1 263 c.59G>A c.(58-60)TGG>TAG p.W20* PAQR3_uc003hlm.2_RNA|PAQR3_uc003hln.2_RNA|PAQR3_uc003hlq.1_5'UTR NM_001040202 NP_001035292 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 20 Cytoplasmic (Potential). Golgi membrane|integral to membrane receptor activity 0 CAGGACCGGCCAGTACTGGTA 0.667000 NAA11 84779 broad.mit.edu 37 4 80246965 80246965 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr4:80246965G>A uc003hlt.3 - 1 207 c.67C>T c.(67-69)CCT>TCT p.P23S NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 23 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TAGTTCTCAGGAAGGCAAAGG 0.498000 PRSS12 8492 broad.mit.edu 37 4 119252907 119252907 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr4:119252907G>A uc003ica.1 - 4 982 c.935C>T c.(934-936)GCC>GTC p.A312V NM_003619 NP_003610 P56730 NETR_HUMAN neurotrypsin precursor 312 SRCR 2. membrane scavenger receptor activity skin(1) 1 TTCTGCATCGGCATCATCCCA 0.493000 CTNND2 1501 broad.mit.edu 37 5 11098707 11098707 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:11098707A>C uc003jfa.1 - 15 2762 c.2617T>G c.(2617-2619)TTG>GTG p.L873V CTNND2_uc010itt.2_Missense_Mutation_p.L782V|CTNND2_uc011cmy.1_Missense_Mutation_p.L536V|CTNND2_uc011cmz.1_Missense_Mutation_p.L440V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.L440V NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 873 ARM 7. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 CCTGCAGCCAAGTTCTGCAGG 0.493000 RXFP3 51289 broad.mit.edu 37 5 33937955 33937955 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:33937955G>A uc003jic.1 + 1 1467 c.1110G>A c.(1108-1110)GCG>GCA p.A370A NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 370 Helical; Name=7; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 AGGTATACGCGTTCCCTGTGA 0.617000 LIFR 3977 broad.mit.edu 37 5 38510603 38510603 + Silent SNP G G A rs61748202 byFrequency TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:38510603G>A uc010ive.1 - 7 1286 c.954C>T c.(952-954)ACC>ACT p.T318T LIFR_uc003jli.2_Silent_p.T318T NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 318 Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TGTTATCTTCGGTTGTAAAAA 0.348000 T PLAG1 salivary adenoma FGF10 2255 broad.mit.edu 37 5 44388771 44388771 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:44388771A>C uc003jog.1 - 1 14 c.14T>G c.(13-15)ATA>AGA p.I5R NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 5 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) ATGTGTCAGTATCCATTTCCA 0.517000 SNCAIP 9627 broad.mit.edu 37 5 121739511 121739511 + Silent SNP G G A rs149915358 byFrequency TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:121739511G>A uc003ksw.1 + 3 287 c.81G>A c.(79-81)ACG>ACA p.T27T SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.2_Silent_p.T27T|SNCAIP_uc003ksx.1_Silent_p.T74T|SNCAIP_uc003ksy.1_Missense_Mutation_p.R12Q|SNCAIP_uc003ksz.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcu.2_Missense_Mutation_p.R12Q|SNCAIP_uc011cwm.1_Missense_Mutation_p.R12Q|SNCAIP_uc003kta.1_Missense_Mutation_p.R10Q|SNCAIP_uc010jcv.1_RNA|SNCAIP_uc010jcw.1_Missense_Mutation_p.R12Q|SNCAIP_uc010jcx.1_Silent_p.T27T NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN synuclein alpha interacting protein 27 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding ovary(1)|pancreas(1) 2 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CACTCAAGACGATCCCAGAAC 0.453000 PCDHA3 56145 broad.mit.edu 37 5 140180983 140180983 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:140180983G>A uc003lhf.2 + 1 201 c.201G>A c.(199-201)GCG>GCA p.A67A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A67A NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 67 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGTGGCGTCCAAAAGAC 0.632000 PCDHGA10 56106 broad.mit.edu 37 5 140794719 140794719 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:140794719C>T uc003lkl.1 + 1 1977 c.1977C>T c.(1975-1977)TCC>TCT p.S659S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Silent_p.S659S|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank NM_018913 NP_061736 Q9Y5H3 PCDGA_HUMAN protocadherin gamma subfamily A, 10 isoform 1 659 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCTCTCTCCGCCACTGTCA 0.672000 PCDHGB7 56099 broad.mit.edu 37 5 140799123 140799123 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:140799123C>T uc003lkn.1 + 1 1842 c.1697C>T c.(1696-1698)GCG>GTG p.A566V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.A566V|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank NM_018927 NP_061750 Q9Y5F8 PCDGJ_HUMAN protocadherin gamma subfamily B, 7 isoform 1 566 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTACCCTGCGCTGGGTCCC 0.726000 TNIP1 10318 broad.mit.edu 37 5 150422226 150422226 + Nonsense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:150422226C>A uc003ltf.2 - 11 1598 c.1009G>T c.(1009-1011)GAG>TAG p.E337* TNIP1_uc010jhl.2_RNA|TNIP1_uc010jhm.2_Nonsense_Mutation_p.E337*|TNIP1_uc010jhn.2_Nonsense_Mutation_p.E337*|TNIP1_uc011dco.1_Nonsense_Mutation_p.E337*|TNIP1_uc003lth.2_RNA|TNIP1_uc003lti.2_Nonsense_Mutation_p.E337*|TNIP1_uc003ltg.2_Nonsense_Mutation_p.E284*|TNIP1_uc003ltj.2_Nonsense_Mutation_p.E337*|TNIP1_uc010jho.1_RNA|TNIP1_uc010jhq.1_Nonsense_Mutation_p.E284*|TNIP1_uc010jhp.1_Nonsense_Mutation_p.E284*|TNIP1_uc010jhr.1_Nonsense_Mutation_p.E337*|TNIP1_uc003ltk.2_Nonsense_Mutation_p.E337* NM_006058 NP_006049 Q15025 TNIP1_HUMAN TNFAIP3 interacting protein 1 337 Potential.|Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACGCAGCTCAGTGATCTGG 0.612000 SLC36A2 153201 broad.mit.edu 37 5 150723081 150723081 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:150723081A>G uc003lty.2 - 3 464 c.334T>C c.(334-336)TTC>CTC p.F112L GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.F112L|SLC36A2_uc011dct.1_Missense_Mutation_p.F112L NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 112 Cytoplasmic (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCTTACAGAAGCGCTGGGCA 0.512000 EBF1 1879 broad.mit.edu 37 5 158204508 158204508 + Silent SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:158204508G>T uc010jip.2 - 10 1251 c.949C>A c.(949-951)CGG>AGG p.R317R EBF1_uc011ddw.1_Silent_p.R185R|EBF1_uc011ddx.1_Silent_p.R318R|EBF1_uc003lxl.3_Silent_p.R286R NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 317 IPT/TIG. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGATGTGCCGAGGAGGGGTC 0.468000 T HMGA2 lipoma SQSTM1 8878 broad.mit.edu 37 5 179263587 179263587 + Silent SNP G G A rs11548636 TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr5:179263587G>A uc003mkw.3 + 8 1412 c.1317G>A c.(1315-1317)CCG>CCA p.P439P SQSTM1_uc011dgr.1_Silent_p.P355P|SQSTM1_uc011dgs.1_Silent_p.P355P|SQSTM1_uc003mkv.3_Missense_Mutation_p.R356H|SQSTM1_uc003mkx.2_Silent_p.P355P NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 439 Interaction with NTRK1 (By similarity). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATCCCCCGCCGTTGTGACCAC 0.542000 Paget_Disease_of_Bone RIMS1 22999 broad.mit.edu 37 6 72955550 72955550 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr6:72955550C>T uc003pga.2 + 11 2191 c.2114C>T c.(2113-2115)CCT>CTT p.P705L RIMS1_uc011dyb.1_Missense_Mutation_p.P331L|RIMS1_uc003pgc.2_Missense_Mutation_p.P331L|RIMS1_uc010kaq.2_Missense_Mutation_p.P179L|RIMS1_uc011dyc.1_Missense_Mutation_p.P179L|RIMS1_uc010kar.2_Missense_Mutation_p.P98L|RIMS1_uc011dyd.1_Missense_Mutation_p.P164L|RIMS1_uc003pgb.3_Missense_Mutation_p.P331L|RIMS1_uc010kas.1_Missense_Mutation_p.P164L NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 705 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGCTCCCACCCTCCACTGGAG 0.363000 C6orf186 728464 broad.mit.edu 37 6 110620262 110620262 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr6:110620262T>C uc010kdu.1 - 4 649 c.649A>G c.(649-651)ATT>GTT p.I217V C6orf186_uc003pub.2_Missense_Mutation_p.I20V NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN chromosome 6 open reading frame 186 precursor 217 extracellular region 0 CTCTCCAGAATGTGAGCTGAC 0.478000 PEX3 8504 broad.mit.edu 37 6 143792193 143792193 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr6:143792193G>T uc003qjl.2 + 5 689 c.427G>T c.(427-429)GAT>TAT p.D143Y PEX3_uc011edx.1_Missense_Mutation_p.D143Y NM_003630 NP_003621 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 143 Cytoplasmic (Potential). protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) TATTTACCTGGATAATGCAGC 0.373000 UST 10090 broad.mit.edu 37 6 149394999 149394999 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr6:149394999C>T uc003qmg.2 + 8 1264 c.968C>T c.(967-969)ACG>ATG p.T323M NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 323 Lumenal (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) ATGACTGTGACGGTGAAGAAG 0.537000 KATNA1 11104 broad.mit.edu 37 6 149944303 149944303 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr6:149944303T>C uc003qmr.1 - 3 482 c.437A>G c.(436-438)AAT>AGT p.N146S KATNA1_uc003qms.2_Missense_Mutation_p.N146S|KATNA1_uc003qmt.2_Missense_Mutation_p.N146S|KATNA1_uc011eed.1_Missense_Mutation_p.N146S NM_007044 NP_008975 O75449 KTNA1_HUMAN katanin p60 subunit A 1 146 Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity skin(1) 1 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) CCCTCTGTCATTGTGAACATT 0.368000 ARID1B 57492 broad.mit.edu 37 6 157527345 157527345 + Nonsense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr6:157527345C>A uc003qqn.2 + 20 5168 c.5016C>A c.(5014-5016)TGC>TGA p.C1672* ARID1B_uc003qqo.2_Nonsense_Mutation_p.C1632*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.C1619* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1677 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) TTAGAAAATGCCTGATTGACA 0.433000 TAX1BP1 8887 broad.mit.edu 37 7 27832693 27832693 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:27832693T>C uc003szl.2 + 10 1430 c.1272T>C c.(1270-1272)ACT>ACC p.T424T TAX1BP1_uc011jzo.1_Silent_p.T424T|TAX1BP1_uc003szk.2_Silent_p.T424T|TAX1BP1_uc011jzp.1_Silent_p.T267T NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 424 Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) AGGACAAGACTGATACACTGG 0.323000 IKZF1 10320 broad.mit.edu 37 7 50468108 50468108 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:50468108C>T uc003tow.3 + 9 1511 c.1343C>T c.(1342-1344)GCG>GTG p.A448V IKZF1_uc003tox.3_Missense_Mutation_p.A406V|IKZF1_uc003toy.3_Missense_Mutation_p.A406V|IKZF1_uc011kck.1_Missense_Mutation_p.A361V|IKZF1_uc003toz.3_Missense_Mutation_p.A418V|IKZF1_uc010kyx.2_Missense_Mutation_p.A188V|IKZF1_uc003tpa.3_Missense_Mutation_p.A190V NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 448 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TCGCAGGACGCGCTCCGCGTG 0.652000 D ALL CCDC132 55610 broad.mit.edu 37 7 92935138 92935138 + Splice_Site SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:92935138A>G uc003umo.2 + 18 1581 c.1453_splice c.e18-2 p.E485_splice CCDC132_uc003umq.2_Splice_Site|CCDC132_uc003ump.2_Splice_Site_p.E455_splice|CCDC132_uc003umr.2_Splice_Site|CCDC132_uc011khz.1_Splice_Site_p.E205_splice NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) TTTAACATCTAGGAATTTAAA 0.368000 COL1A2 1278 broad.mit.edu 37 7 94059632 94059632 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:94059632A>C uc003ung.1 + 52 4499 c.4028A>C c.(4027-4029)GAT>GCT p.D1343A COL1A2_uc011kib.1_Missense_Mutation_p.D195A NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1343 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CCCTTCCTTGATATTGCACCT 0.363000 HNSCC(75;0.22) COL1A2 1278 broad.mit.edu 37 7 94059634 94059634 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:94059634A>T uc003ung.1 + 52 4501 c.4030A>T c.(4030-4032)ATT>TTT p.I1344F COL1A2_uc011kib.1_Missense_Mutation_p.I196F NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1344 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTTCCTTGATATTGCACCTTT 0.363000 HNSCC(75;0.22) CTTNBP2 83992 broad.mit.edu 37 7 117431934 117431934 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:117431934G>C uc003vjf.2 - 4 1408 c.1316C>G c.(1315-1317)CCA>CGA p.P439R NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 439 Pro-rich. ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTTTAGACCTGGATGCAAAGA 0.498000 ZNF800 168850 broad.mit.edu 37 7 127014104 127014104 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:127014104T>G uc003vlx.1 - 5 1549 c.1286A>C c.(1285-1287)AAT>ACT p.N429T ZNF800_uc003vlw.1_Missense_Mutation_p.N332T|ZNF800_uc003vly.1_Missense_Mutation_p.N429T|ZNF800_uc010lla.2_Missense_Mutation_p.N429T NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTTAATTCATTCTGTGGAGA 0.368000 CHRM2 1129 broad.mit.edu 37 7 136700630 136700630 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:136700630A>G uc003vtf.1 + 4 1641 c.1018A>G c.(1018-1020)ACT>GCT p.T340A CHRM2_uc003vtg.1_Missense_Mutation_p.T340A|CHRM2_uc003vtj.1_Missense_Mutation_p.T340A|CHRM2_uc003vtk.1_Missense_Mutation_p.T340A|CHRM2_uc003vtl.1_Missense_Mutation_p.T340A|CHRM2_uc003vtm.1_Missense_Mutation_p.T340A|CHRM2_uc003vti.1_Missense_Mutation_p.T340A|CHRM2_uc003vto.1_Missense_Mutation_p.T340A|CHRM2_uc003vtn.1_Missense_Mutation_p.T340A|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 340 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) ATGTACCCCAACTAATACCAC 0.473000 CNTNAP2 26047 broad.mit.edu 37 7 147869380 147869380 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:147869380G>C uc003weu.1 + 18 3336 c.2820G>C c.(2818-2820)TTG>TTC p.L940F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 940 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCCGCTCCTTGAGGATGAATG 0.542000 HNSCC(39;0.1) TMUB1 83590 broad.mit.edu 37 7 150779627 150779627 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr7:150779627A>G uc003wjb.2 - 1 139 c.24T>C c.(22-24)GGT>GGC p.G8G FASTK_uc003wiw.1_5'Flank|FASTK_uc003wix.1_5'Flank|FASTK_uc003wiy.1_5'Flank|FASTK_uc003wiz.1_5'Flank|FASTK_uc003wja.1_5'Flank|TMUB1_uc003wjc.2_Silent_p.G8G|TMUB1_uc003wjd.2_Silent_p.G8G NM_031434 NP_113622 Q9BVT8 TMUB1_HUMAN transmembrane and ubiquitin-like domain 8 cytoplasm|integral to membrane|nucleus 0 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCACCTCATCACCCACCCCTT 0.682000 DEFB136 613210 broad.mit.edu 37 8 11831582 11831582 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:11831582G>C uc011kxm.1 - 2 101 c.101C>G c.(100-102)ACT>AGT p.T34S NM_001033018 NP_001028190 Q30KP8 DB136_HUMAN beta-defensin 136 precursor 34 defense response to bacterium extracellular region 0 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.163) TTTCTGGCTAGTGCAGGTGCG 0.453000 ATP6V1B2 526 broad.mit.edu 37 8 20067922 20067922 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:20067922C>T uc003wzp.2 + 4 571 c.357C>T c.(355-357)CTC>CTT p.L119L NM_001693 NP_001684 P21281 VATB2_HUMAN vacuolar H+ATPase B2 119 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism 0 Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211) GGGATATTCTCCGAACACCGG 0.358000 SCARA3 51435 broad.mit.edu 37 8 27528492 27528492 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:27528492C>T uc003xga.1 + 6 1586 c.1445C>T c.(1444-1446)CCG>CTG p.P482L SCARA3_uc003xgb.1_Intron NM_016240 NP_057324 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 isoform 1 482 Collagen-like 1.|Extracellular (Potential). response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity skin(2)|ovary(1)|breast(1) 4 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) GGCAGAGGCCCGAAAGGAGAC 0.662000 SFRP1 6422 broad.mit.edu 37 8 41122917 41122917 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:41122917G>C uc003xnt.2 - 3 1016 c.714C>G c.(712-714)ATC>ATG p.I238M NM_003012 NP_003003 Q8N474 SFRP1_HUMAN secreted frizzled-related protein 1 precursor 238 NTR. brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211) all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559) BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174) CCTTCTTCTTGATGGGCCCCA 0.488000 CSPP1 79848 broad.mit.edu 37 8 68084687 68084687 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:68084687G>C uc003xxi.2 + 25 2986 c.2955G>C c.(2953-2955)ATG>ATC p.M985I CSPP1_uc003xxj.2_Missense_Mutation_p.M950I|CSPP1_uc003xxk.2_Missense_Mutation_p.M605I|CSPP1_uc010lyw.2_Missense_Mutation_p.M45I NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 985 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TATTTGATATGGCTAGACATC 0.378000 STAU2 27067 broad.mit.edu 37 8 74516095 74516095 + Missense_Mutation SNP C C T rs142831475 TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:74516095C>T uc003xzm.2 - 10 1131 c.895G>A c.(895-897)GGA>AGA p.G299R STAU2_uc011lfg.1_Missense_Mutation_p.G127R|STAU2_uc003xzn.2_Missense_Mutation_p.G267R|STAU2_uc011lfh.1_Missense_Mutation_p.G195R|STAU2_uc003xzo.2_Missense_Mutation_p.G299R|STAU2_uc003xzp.2_Missense_Mutation_p.G267R|STAU2_uc011lfi.1_Missense_Mutation_p.G261R|STAU2_uc003xzq.2_Missense_Mutation_p.G79R|STAU2_uc010lzk.2_Missense_Mutation_p.G267R|STAU2_uc010lzl.1_Missense_Mutation_p.G127R NM_014393 NP_055208 Q9NUL3 STAU2_HUMAN staufen homolog 2 isoform e 299 transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding 0 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TATTCTGGTCCGGCCTAAAAA 0.418000 CNBD1 168975 broad.mit.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:88365898T>C uc003ydy.2 + 10 1235 c.1187T>C c.(1186-1188)CTT>CCT p.L396P NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 396 cNMP. ovary(3) 3 ATGGGGAAACTTAAGGAGAAG 0.323000 DCAF13 25879 broad.mit.edu 37 8 104427572 104427572 + Silent SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:104427572T>G uc003yln.2 + 1 631 c.354T>G c.(352-354)ACT>ACG p.T118T SLC25A32_uc003yll.2_5'Flank|SLC25A32_uc011lhr.1_5'Flank|DCAF13_uc003ylm.1_5'UTR|DCAF13_uc003ylo.2_5'UTR NM_015420 NP_056235 Q9NV06 DCA13_HUMAN WD repeats and SOF1 domain containing Error:Variant_position_missing_in_Q9NV06_after_alignment rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex breast(1) 1 GTCACGTGACTGGAAGTAGTC 0.637000 TG 7038 broad.mit.edu 37 8 134146930 134146930 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:134146930G>A uc003ytw.2 + 48 8240 c.8199G>A c.(8197-8199)AAG>AAA p.K2733K TG_uc010mdw.2_Silent_p.K1492K|TG_uc011ljb.1_Silent_p.K1102K|TG_uc011ljc.1_Silent_p.K866K NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2733 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) ATGGAGCCAAGGGCGGGCAGT 0.547000 FAM135B 51059 broad.mit.edu 37 8 139164785 139164785 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr8:139164785T>G uc003yuy.2 - 13 2104 c.1933A>C c.(1933-1935)AGT>CGT p.S645R FAM135B_uc003yux.2_Missense_Mutation_p.S546R|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.S207R|FAM135B_uc003yvb.2_Missense_Mutation_p.S207R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 645 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGGTAGAACTTAGTGGATCA 0.488000 HNSCC(54;0.14) AK3 50808 broad.mit.edu 37 9 4741007 4741007 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:4741007G>A uc003ziq.1 - 1 221 c.81C>T c.(79-81)ATC>ATT p.I27I AK3_uc011lma.1_Silent_p.I27I|AK3_uc003zir.1_Intron NM_016282 NP_057366 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 27 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity ovary(2) 2 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) AGTGTGTAGTGATGCGCGACG 0.721000 GLDC 2731 broad.mit.edu 37 9 6610217 6610217 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:6610217C>A uc003zkc.2 - 4 803 c.610G>T c.(610-612)GCA>TCA p.A204S NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 204 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGTGCCTCTGCGGCTGCAGTC 0.403000 CDKN2A 1029 broad.mit.edu 37 9 21971119 21971119 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:21971119C>T uc003zpk.2 - 2 451 c.239G>A c.(238-240)CGA>CAA p.R80Q MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.P135P NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(85)|p.?(13)|p.R80Q(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTGCACGGGTCGGGTGAGAGT 0.731000 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) NOL6 65083 broad.mit.edu 37 9 33466322 33466322 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:33466322G>A uc003zsz.2 - 17 2294 c.2193C>T c.(2191-2193)TAC>TAT p.Y731Y SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.Y728Y|NOL6_uc011lob.1_Silent_p.Y679Y|NOL6_uc003ztb.1_Silent_p.Y731Y NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 731 rRNA processing condensed nuclear chromosome|nucleolus RNA binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TGGGCTCCACGTAGGCCGGAC 0.607000 OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TLN1 7094 broad.mit.edu 37 9 35700205 35700205 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:35700205T>C uc003zxt.2 - 49 6997 c.6643A>G c.(6643-6645)ATG>GTG p.M2215V NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 2215 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GCCCGAAGCATATCTGCAATA 0.547000 SEMA4D 10507 broad.mit.edu 37 9 91993768 91993768 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:91993768C>T uc004aqo.1 - 18 3012 c.2440G>A c.(2440-2442)GGC>AGC p.G814S SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.G812S NM_006378 NP_006369 Q92854 SEM4D_HUMAN semaphorin 4D isoform 1 814 Cytoplasmic (Potential). anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding ovary(1)|pancreas(1) 2 GTCTCATAGCCGGTGTCCAGG 0.577000 MEGF9 1955 broad.mit.edu 37 9 123370282 123370282 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr9:123370282C>G uc004bkj.1 - 7 1205 c.1205G>C c.(1204-1206)AGT>ACT p.S402T MEGF9_uc011lyb.1_Missense_Mutation_p.S357T NM_001080497 NP_001073966 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 365 Laminin EGF-like 4.|Extracellular (Potential). integral to membrane calcium ion binding 0 TTCCAATTCACTCGATTCTAA 0.328000 FRMPD4 9758 broad.mit.edu 37 X 12736052 12736052 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:12736052G>C uc004cuz.1 + 16 3613 c.3107G>C c.(3106-3108)GGG>GCG p.G1036A FRMPD4_uc011mij.1_Missense_Mutation_p.G1028A NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1036 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 GATGGTGAGGGGAAGGCACCC 0.512000 FANCB 2187 broad.mit.edu 37 X 14883234 14883234 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:14883234G>A uc004cwg.1 - 3 667 c.399C>T c.(397-399)GGC>GGT p.G133G FANCB_uc004cwh.1_Silent_p.G133G NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 133 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) GGACCCTTAGGCCATCCTTCA 0.333000 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia NHS 4810 broad.mit.edu 37 X 17745707 17745707 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:17745707G>A uc004cxx.2 + 6 3756 c.3418G>A c.(3418-3420)GAT>AAT p.D1140N NHS_uc011mix.1_Missense_Mutation_p.D1161N|NHS_uc004cxy.2_Missense_Mutation_p.D984N|NHS_uc004cxz.2_Missense_Mutation_p.D963N|NHS_uc004cya.2_Missense_Mutation_p.D863N NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1140 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AAACAATACAGATCTCCCTTA 0.413000 IL1RAPL1 11141 broad.mit.edu 37 X 29417401 29417401 + Silent SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:29417401A>C uc004dby.2 + 5 1187 c.679A>C c.(679-681)AGA>CGA p.R227R NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 227 Ig-like C2-type 2.|Extracellular (Potential). innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TGTTGTGAGAAGAACTACTGA 0.308000 MAOA 4128 broad.mit.edu 37 X 43603732 43603732 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:43603732A>T uc004dfy.2 + 15 1737 c.1556A>T c.(1555-1557)TAC>TTC p.Y519F MAOA_uc011mkw.1_Missense_Mutation_p.Y386F NM_000240 NP_000231 P21397 AOFA_HUMAN monoamine oxidase A 519 Mitochondrial intermembrane. behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding breast(2)|ovary(1) 3 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) TTTGTGCTGTACAAATACAAG 0.458000 PABPC5 140886 broad.mit.edu 37 X 90690690 90690690 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:90690690C>A uc004efg.2 + 2 554 c.114C>A c.(112-114)TTC>TTA p.F38L PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 38 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 ATAAGAAGTTCAGGCCTGCTG 0.562000 PABPC5 140886 broad.mit.edu 37 X 90690691 90690691 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chrX:90690691A>G uc004efg.2 + 2 555 c.115A>G c.(115-117)AGG>GGG p.R39G PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 39 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TAAGAAGTTCAGGCCTGCTGG 0.567000 PRKG2 5593 broad.mit.edu 37 4 82065442 82065443 + Frame_Shift_Ins INS - - T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr4:82065441_82065442A>AT uc003hmh.2 - 8 1210_1211 c.1197_1198T>AT c.(1195-1200)aaatacfs p.K399fs PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Frame_Shift_Ins_p.K399fs NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 399 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 CCTTCAAGGTATTTTTGCAGCT 0.416 VEZT 55591 broad.mit.edu 37 12 95660289 95660290 + Frame_Shift_Ins INS - - A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 Untested Somatic Phase_I WXS none Illumina GAIIx eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 g.chr12:95660288_95660289T>TA uc001tdz.2 + 4 695_696 c.590_591T>TA c.(589-591)ctafs p.L197fs VEZT_uc001tds.3_Frame_Shift_Ins_p.L149fs|VEZT_uc001tdv.3_Frame_Shift_Ins_p.L166fs|VEZT_uc009zsy.1_Frame_Shift_Ins_p.L39fs|VEZT_uc001tdr.2_Frame_Shift_Ins_p.L39fs|VEZT_uc001tdt.2_Frame_Shift_Ins_p.L149fs|VEZT_uc009zsz.1_Frame_Shift_Ins_p.L197fs|VEZT_uc001tdw.1_Frame_Shift_Ins_p.L149fs|VEZT_uc009zta.1_Frame_Shift_Ins_p.L149fs NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA. 197 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 CAAGTGACCCTAAAAAAATACA 0.421