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 MIB2 142678 broad.mit.edu 37 1 1563750 1563750 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:1563750C>T uc001agg.2 + 15 2240 c.2113C>T c.(2113-2115)CGC>TGC p.R705C MIB2_uc001agh.2_Missense_Mutation_p.R691C|MIB2_uc001agi.2_Missense_Mutation_p.R701C|MIB2_uc001agj.2_Missense_Mutation_p.R546C|MIB2_uc001agk.2_Missense_Mutation_p.R640C|MIB2_uc001agl.1_Missense_Mutation_p.R661C|MIB2_uc001agm.2_Missense_Mutation_p.R582C|MIB2_uc010nyq.1_Missense_Mutation_p.R661C|MIB2_uc009vkh.2_Missense_Mutation_p.R511C|MIB2_uc001agn.2_Missense_Mutation_p.R337C|MIB2_uc001ago.2_5'Flank NM_080875 NP_543151 Q96AX9 MIB2_HUMAN mindbomb homolog 2 705 ANK 6. Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CAACAACCACCGCGAGGTGGC 0.692 PLEKHG5 57449 broad.mit.edu 37 1 6537601 6537601 + Missense_Mutation SNP G C C TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:6537601G>C uc001ano.1 - 3 300 c.199C>G c.(199-201)CTT>GTT p.L67V PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc001anp.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 67 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TGTGGGGGAAGGTCGAAGCGG 0.537 CD53 963 broad.mit.edu 37 1 111435024 111435024 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:111435024G>A uc001dzw.2 + 4 292 c.121G>A c.(121-123)GGA>AGA p.G41R CD53_uc001dzx.2_Missense_Mutation_p.G41R|CD53_uc010owa.1_Missense_Mutation_p.G41R|CD53_uc001dzy.2_Missense_Mutation_p.G41R NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 41 Extracellular (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CAACAACTTCGGAGTGCTCTT 0.507 HSD3B2 3284 broad.mit.edu 37 1 119985580 119985580 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:119985580C>T uc001ehu.2 + 4 529 c.387C>T c.(385-387)GAC>GAT p.D129D P26439 3BHS2_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3-beta-HSD II; Includes: RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase; EC=1.1.1.145; AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase; AltName: Full=Progesterone reductase; Includes: RecName: Full=Steroid Delta-isomerase; EC=5.3.3.1; AltName: Full=Delta-5-3-ketosteroid isomerase; Error:Variant_position_missing_in_P26439_after_alignment androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CCTGCCAGGACGTGTCGGTCG 0.507 HRNR 388697 broad.mit.edu 37 1 152188024 152188024 + Silent SNP C G G rs142170860 TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:152188024C>G uc001ezt.1 - 3 6157 c.6081G>C c.(6079-6081)TCG>TCC p.S2027S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2027 22. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCACAGCTCGATGACTGTC 0.562 NUP210L 91181 broad.mit.edu 37 1 154090286 154090286 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:154090286C>T uc001fdw.2 - 12 1607 c.1535G>A c.(1534-1536)GGA>GAA p.G512E NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G512E NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 512 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) AGTCACCACTCCTTTCGTGGT 0.433 TIPRL 261726 broad.mit.edu 37 1 168165850 168165850 + Silent SNP C A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:168165850C>A uc001gfg.2 + 5 727 c.582C>A c.(580-582)ATC>ATA p.I194I TIPRL_uc001gfh.2_Silent_p.I194I NM_152902 NP_690866 O75663 TIPRL_HUMAN TIP41, TOR signalling pathway regulator-like 194 Interaction with PPP2CA. DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity cytoplasm protein binding ovary(1) 1 all_hematologic(923;0.215) GGGTGCTTATCAGAATGAATG 0.323 USH2A 7399 broad.mit.edu 37 1 215933077 215933077 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:215933077C>T uc001hku.1 - 57 11543 c.11156G>A c.(11155-11157)CGT>CAT p.R3719H NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3719 Fibronectin type-III 22.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTTTCCATTACGACTCAATTG 0.408 HNSCC(13;0.011) EPHX1 2052 broad.mit.edu 37 1 226027611 226027611 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:226027611C>T uc001hpk.2 + 6 884 c.804C>T c.(802-804)TTC>TTT p.F268F EPHX1_uc001hpl.2_Silent_p.F268F NM_001136018 NP_001129490 P07099 HYEP_HUMAN epoxide hydrolase 1 268 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity ovary(3)|lung(1) 4 Breast(184;0.197) GACAGCGTTTCGGGAGGTTTC 0.552 RYR2 6262 broad.mit.edu 37 1 237838075 237838075 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr1:237838075G>A uc001hyl.1 + 60 8879 c.8759G>A c.(8758-8760)CGA>CAA p.R2920Q RYR2_uc010pxz.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2920 Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTGAGAAACGATTTGCCTAT 0.423 MKX 283078 broad.mit.edu 37 10 27964299 27964299 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr10:27964299C>T uc001ity.3 - 7 1143 c.918G>A c.(916-918)AAG>AAA p.K306K MKX_uc001itx.3_Silent_p.K306K NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 306 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CGTTGATCTCCTTCCAATACG 0.458 C10orf12 26148 broad.mit.edu 37 10 98741746 98741746 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr10:98741746G>A uc001kmv.2 + 1 706 c.599G>A c.(598-600)TGT>TAT p.C200Y C10orf12_uc009xvg.1_Missense_Mutation_p.C510Y NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 200 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) AATGGTGACTGTTGTGAGCTG 0.423 MMP10 4319 broad.mit.edu 37 11 102647144 102647144 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr11:102647144C>T uc001phg.1 - 6 821 c.799G>A c.(799-801)GCC>ACC p.A267T NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 267 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TCAGTAGAGGCAGGGGGAGGT 0.468 DDX25 29118 broad.mit.edu 37 11 125787056 125787056 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr11:125787056C>T uc001qcz.3 + 9 1089 c.948C>T c.(946-948)TAC>TAT p.Y316Y DDX25_uc010sbk.1_Silent_p.Y316Y NM_013264 NP_037396 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 316 Helicase C-terminal. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(1) 1 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) GGCAATATTACGTGCTGTGTG 0.478 ITPR2 3709 broad.mit.edu 37 12 26864181 26864181 + Silent SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr12:26864181G>A uc001rhg.2 - 9 1293 c.876C>T c.(874-876)TGC>TGT p.C292C NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 292 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CACCCCCACGGCATGGGTCAT 0.433 PRPF40B 25766 broad.mit.edu 37 12 50028946 50028946 + Missense_Mutation SNP G C C TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr12:50028946G>C uc001rur.1 + 12 1064 c.1000G>C c.(1000-1002)GAG>CAG p.E334Q PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 334 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 GCGGGAGAAGGAGGAGAAGGA 0.582 CAPS2 84698 broad.mit.edu 37 12 75692734 75692734 + Missense_Mutation SNP A C C TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr12:75692734A>C uc001sxk.3 - 11 1121 c.924T>G c.(922-924)GAT>GAG p.D308E CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.3_Intron|CAPS2_uc001sxj.3_Intron|CAPS2_uc001sxl.3_Missense_Mutation_p.D289E NM_032606 NP_115995 Q9BXY5 CAYP2_HUMAN calcyphosine 2 308 calcium ion binding ovary(2) 2 CTCTGCAAGCATCACGTCCAT 0.308 NT5DC3 51559 broad.mit.edu 37 12 104186945 104186945 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr12:104186945C>T uc010swe.1 - 9 1057 c.1016G>A c.(1015-1017)CGG>CAG p.R339Q NM_001031701 NP_001026871 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 339 hydrolase activity|metal ion binding ovary(2)|skin(1) 3 CACTCACCTCCGCTTATCATT 0.403 NOS1 4842 broad.mit.edu 37 12 117710315 117710315 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr12:117710315C>T uc001twm.1 - 10 2400 c.1714G>A c.(1714-1716)GTG>ATG p.V572M NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 572 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATGTTGGACACGGCGGGGAGG 0.617 TMEM132D 121256 broad.mit.edu 37 12 130015732 130015732 + Silent SNP G A A rs147002439 TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr12:130015732G>A uc009zyl.1 - 3 1315 c.987C>T c.(985-987)GGC>GGT p.G329G NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 329 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGATGTTCACGCCTTTCTTCA 0.557 SERPINA10 51156 broad.mit.edu 37 14 94756360 94756360 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr14:94756360C>T uc001yct.2 - 2 1037 c.571G>A c.(571-573)GTG>ATG p.V191M SERPINA10_uc001ycu.3_Missense_Mutation_p.V191M NM_016186 NP_057270 Q9UK55 ZPI_HUMAN serine (or cysteine) proteinase inhibitor, clade 191 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TTCATAGGCACGCACTCTGTA 0.418 CILP 8483 broad.mit.edu 37 15 65489345 65489345 + Silent SNP G T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr15:65489345G>T uc002aon.2 - 9 3460 c.3279C>A c.(3277-3279)GGC>GGA p.G1093G NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 1093 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CAAAGCACCGGCCGAGCGCGA 0.582 SV2B 9899 broad.mit.edu 37 15 91835641 91835641 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr15:91835641C>T uc002bqv.2 + 12 2302 c.1911C>T c.(1909-1911)GGC>GGT p.G637G SV2B_uc010uqv.1_Silent_p.G486G|SV2B_uc002bqu.3_RNA NM_014848 NP_055663 Q7L1I2 SV2B_HUMAN synaptic vesicle protein 2B homolog 637 Helical; (Potential). neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1) 8 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GCAAATTTGGCGCCATCCTGG 0.463 MSLNL 401827 broad.mit.edu 37 16 822701 822701 + Silent SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr16:822701G>A uc002cjz.1 - 12 2406 c.2406C>T c.(2404-2406)ATC>ATT p.I802I NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 451 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 CCTGGGGATGGATGGTCTGGA 0.647 ERCC4 2072 broad.mit.edu 37 16 14024621 14024621 + Missense_Mutation SNP T A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr16:14024621T>A uc002dce.2 + 5 856 c.847T>A c.(847-849)TCC>ACC p.S283T ERCC4_uc010bva.2_Missense_Mutation_p.S283T NM_005236 NP_005227 Q92889 XPF_HUMAN excision repair cross-complementing rodent 283 Leucine-zipper 2. double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity lung(4)|ovary(3)|skin(2)|pancreas(1) 10 CAAGACTAAATCCTTAGTTCA 0.363 Mis|N|F skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum ITPRIPL2 162073 broad.mit.edu 37 16 19126333 19126333 + Missense_Mutation SNP C G G TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr16:19126333C>G uc002dfu.3 + 1 1080 c.550C>G c.(550-552)CCG>GCG p.P184A ITPRIPL2_uc002dft.2_5'UTR NM_001034841 NP_001030013 Q3MIP1 IPIL2_HUMAN inositol 1,4,5-triphosphate receptor interacting 184 Cytoplasmic (Potential). integral to membrane skin(2) 2 GCGCCTCCCGCCGCTTGTGGC 0.697 OREG0023657 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RANBP10 57610 broad.mit.edu 37 16 67763893 67763893 + Missense_Mutation SNP G C C TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr16:67763893G>C uc002eud.2 - 8 1062 c.946C>G c.(946-948)CGC>GGC p.R316G RANBP10_uc010ceo.2_Missense_Mutation_p.R87G|RANBP10_uc010vju.1_Missense_Mutation_p.R260G|RANBP10_uc010vjv.1_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 316 CTLH. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GGGTAGAAGCGCTGGGTGGTC 0.632 DNAH2 146754 broad.mit.edu 37 17 7671485 7671485 + Nonsense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr17:7671485C>T uc002giu.1 + 23 3855 c.3841C>T c.(3841-3843)CGA>TGA p.R1281* NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1281 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGCTCAGGACCGAAACTGGGA 0.547 DSG1 1828 broad.mit.edu 37 18 28913591 28913591 + Nonsense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr18:28913591C>T uc002kwp.2 + 7 936 c.724C>T c.(724-726)CGA>TGA p.R242* NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 242 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGGCTCTGACCGAGATGGCGG 0.428 MUC16 94025 broad.mit.edu 37 19 8996490 8996490 + Silent SNP A G G TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:8996490A>G uc002mkp.2 - 61 41286 c.41082T>C c.(41080-41082)CCT>CCC p.P13694P MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.P511P|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13696 Extracellular (Potential).|SEA 11. Missing (in Ref. 3; AAK74120). 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 CATCCTTTTCAGGCCTGGAGA 0.542 RASAL3 64926 broad.mit.edu 37 19 15571922 15571922 + Silent SNP A G G TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:15571922A>G uc002nbe.2 - 5 641 c.555T>C c.(553-555)CCT>CCC p.P185P NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 185 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CTGTTTTTCCAGGCATCCGAT 0.582 ZNF507 22847 broad.mit.edu 37 19 32847587 32847609 + Frame_Shift_Del DEL TAATGAGCCAAGAATTTCCAGTG - - TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG uc002nte.2 + 4 2465_2487 c.2193_2215delTAATGAGCCAAGAATTTCCAGTG c.(2191-2217)TCTAATGAGCCAAGAATTTCCAGTGATfs p.S731fs ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.2_Frame_Shift_Del_p.S731fs NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 731_739 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(110;0.162) TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA 0.381 OPA3 80207 broad.mit.edu 37 19 46056784 46056784 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:46056784C>T uc002pck.3 - 2 628 c.528G>A c.(526-528)GCG>GCA p.A176A OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Silent_p.A123A NM_025136 NP_079412 Q9H6K4 OPA3_HUMAN OPA3 protein isoform b 176 response to stimulus|visual perception mitochondrion 0 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) ATTTCTTGGACGCAGGCACTG 0.637 CCDC114 93233 broad.mit.edu 37 19 48805978 48805978 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:48805978G>A uc002pir.2 - 10 1785 c.1102C>T c.(1102-1104)CGG>TGG p.R368W CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.2_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 368 Potential. ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) AGCTGTCCCCGCACATCCTGG 0.647 CA11 770 broad.mit.edu 37 19 49143426 49143426 + Missense_Mutation SNP G C C TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:49143426G>C uc002pjz.1 - 4 959 c.397C>G c.(397-399)CTG>GTG p.L133V SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 133 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) AGCAGCCGCAGTTCACTGAGT 0.592 SIGLEC10 89790 broad.mit.edu 37 19 51919569 51919569 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:51919569G>A uc002pwo.2 - 4 1365 c.749C>T c.(748-750)ACG>ATG p.T250M SIGLEC10_uc002pwp.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwq.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.2_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.1_Missense_Mutation_p.T250M|SIGLEC10_uc010ycz.1_Missense_Mutation_p.T202M|SIGLEC10_uc010eow.2_Missense_Mutation_p.R15C|SIGLEC10_uc002pws.1_Missense_Mutation_p.T176M NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 250 Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) AGTACCTGGCGTGTTGTCACG 0.483 LILRB4 11006 broad.mit.edu 37 19 55175317 55175317 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:55175317G>A uc002qgp.2 + 3 538 c.176G>A c.(175-177)CGT>CAT p.R59H LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.2_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc002qgr.2_Missense_Mutation_p.R100H|LILRB4_uc010ert.2_Missense_Mutation_p.R100H|LILRB4_uc010eru.2_Missense_Mutation_p.R88H NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 59 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) CGGGAGTACCGTCTGGATAAA 0.587 NLRP7 199713 broad.mit.edu 37 19 55450816 55450816 + Silent SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:55450816G>A uc002qih.3 - 4 1447 c.1371C>T c.(1369-1371)GAC>GAT p.D457D NLRP7_uc002qig.3_Silent_p.D457D|NLRP7_uc002qii.3_Silent_p.D457D|NLRP7_uc010esk.2_Silent_p.D457D|NLRP7_uc010esl.2_Silent_p.D485D NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 457 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TGGAGACTCTGTCCTGGCGGA 0.617 PTPRH 5794 broad.mit.edu 37 19 55708508 55708508 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr19:55708508G>A uc002qjq.2 - 9 2040 c.1967C>T c.(1966-1968)ACG>ATG p.T656M PTPRH_uc010esv.2_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 656 Extracellular (Potential).|Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GAGGCTCTGCGTGGAACTGGC 0.547 SNTG2 54221 broad.mit.edu 37 2 1271318 1271318 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr2:1271318C>T uc002qwq.2 + 14 1387 c.1259C>T c.(1258-1260)ACG>ATG p.T420M SNTG2_uc010ewi.2_Missense_Mutation_p.T293M NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 420 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CAAAGAGCCACGTTCATGGAA 0.527 TTN 7273 broad.mit.edu 37 2 179425883 179425883 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr2:179425883G>A uc010zfg.1 - 275 77496 c.77272C>T c.(77272-77274)CGG>TGG p.R25758W uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R19453W|TTN_uc010zfi.1_Missense_Mutation_p.R19386W|TTN_uc010zfj.1_Missense_Mutation_p.R19261W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 26685 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCAAAAACCCGGAATTCATAA 0.403 NMUR1 10316 broad.mit.edu 37 2 232393454 232393454 + Missense_Mutation SNP G A A rs143358901 by1000genomes TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr2:232393454G>A uc002vry.3 - 2 388 c.278C>T c.(277-279)ACG>ATG p.T93M NM_006056 NP_006047 Q9HB89 NMUR1_HUMAN neuromedin U receptor 1 93 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction integral to plasma membrane|membrane fraction neuromedin U receptor activity lung(3)|central_nervous_system(1)|pancreas(1) 5 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142) GTTGGTAGGCGTGCGCATGGC 0.612 PCSK2 5126 broad.mit.edu 37 20 17445987 17445987 + Missense_Mutation SNP C T T rs138900084 TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr20:17445987C>T uc002wpm.2 + 11 1539 c.1219C>T c.(1219-1221)CGG>TGG p.R407W PCSK2_uc002wpl.2_Missense_Mutation_p.R388W|PCSK2_uc010zrm.1_Missense_Mutation_p.R372W|PCSK2_uc002wpn.2_Missense_Mutation_p.R61W NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 407 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGACCTGGCGGGACATGCA 0.552 TPX2 22974 broad.mit.edu 37 20 30371716 30371716 + Missense_Mutation SNP G T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr20:30371716G>T uc002wwp.1 + 12 2103 c.1405G>T c.(1405-1407)GAT>TAT p.D469Y TPX2_uc010gdv.1_Missense_Mutation_p.D505Y NM_012112 NP_036244 Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated protein homolog 469 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding large_intestine(1)|ovary(1) 2 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) GATTTTGGAAGATGTTGTGGT 0.333 BPI 671 broad.mit.edu 37 20 36932646 36932646 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr20:36932646C>T uc002xib.2 + 1 95 c.33C>T c.(31-33)AAC>AAT p.N11N NM_001725 NP_001716 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 11 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding ovary(4) 4 Myeloproliferative disorder(115;0.00878) GCCCTTGCAACGCGCCGAGAT 0.627 KRTAP10-9 386676 broad.mit.edu 37 21 46047200 46047200 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr21:46047200G>A uc002zfp.3 + 1 161 c.112G>A c.(112-114)GCC>ACC p.A38T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 38 3.|25 X 5 AA repeats of C-C-X(3). keratin filament 0 CAGCTGCTGCGCCCCGGCCCC 0.687 KRTAP10-11 386678 broad.mit.edu 37 21 46066382 46066382 + Missense_Mutation SNP G A A rs150246805 by1000genomes TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr21:46066382G>A uc002zfr.3 + 1 52 c.7G>A c.(7-9)GCG>ACG p.A3T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 3 keratin filament ovary(1) 1 CAGCATGGCCGCGTCCACCAT 0.542 TMPRSS6 164656 broad.mit.edu 37 22 37491997 37491997 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr22:37491997C>T uc003aqs.1 - 5 679 c.565G>A c.(565-567)GTC>ATC p.V189I TMPRSS6_uc003aqt.1_Missense_Mutation_p.V180I|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V180I NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 189 Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 CTGTAGGGGACGGCAGCCGAG 0.642 PTPRG 5793 broad.mit.edu 37 3 62188854 62188854 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr3:62188854C>T uc003dlb.2 + 12 2104 c.1385C>T c.(1384-1386)GCG>GTG p.A462V PTPRG_uc003dlc.2_Missense_Mutation_p.A462V NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 462 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(5)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CAGCCCACAGCGTCTCCTGCC 0.547 STAG1 10274 broad.mit.edu 37 3 136076625 136076625 + Frame_Shift_Del DEL A - - TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr3:136076625delA uc003era.1 - 28 3294 c.3002delT c.(3001-3003)CTGfs p.L1001fs STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 1001 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AAGAAAAGCCAGATTAGGAGG 0.333 BMP3 651 broad.mit.edu 37 4 81952456 81952456 + Silent SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr4:81952456G>A uc003hmg.3 + 1 338 c.18G>A c.(16-18)AGG>AGA p.R6R NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 6 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 GGGCGAGCAGGCTGCTCTTTC 0.706 MTTP 4547 broad.mit.edu 37 4 100534247 100534247 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr4:100534247G>A uc003hvc.3 + 16 2423 c.2167G>A c.(2167-2169)GAC>AAC p.D723N MTTP_uc011cej.1_Missense_Mutation_p.D750N NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 723 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) AGCATCTGGCGACCCTATCAG 0.338 TLL1 7092 broad.mit.edu 37 4 166915601 166915601 + Nonsense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr4:166915601C>T uc003irh.1 + 4 1077 c.430C>T c.(430-432)CGA>TGA p.R144* TLL1_uc011cjn.1_Nonsense_Mutation_p.R144*|TLL1_uc011cjo.1_5'UTR NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 144 cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGAGAAAAATCGAGTTCCCAG 0.423 PDE8B 8622 broad.mit.edu 37 5 76640735 76640735 + Silent SNP A G G TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr5:76640735A>G uc003kfa.2 + 7 900 c.855A>G c.(853-855)ACA>ACG p.T285T PDE8B_uc003kfb.2_Silent_p.T265T|PDE8B_uc003kfc.2_Silent_p.T285T|PDE8B_uc003kfd.2_Silent_p.T285T|PDE8B_uc003kfe.2_Silent_p.T285T NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 285 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TAGAAATAACAAGCGATGACC 0.353 RASA1 5921 broad.mit.edu 37 5 86659220 86659220 + Silent SNP A G G TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr5:86659220A>G uc003kiw.2 + 11 1627 c.1509A>G c.(1507-1509)CAA>CAG p.Q503Q RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Silent_p.Q326Q|RASA1_uc011ctv.1_Silent_p.Q336Q|RASA1_uc011ctw.1_Silent_p.Q337Q|RASA1_uc010jaw.2_Silent_p.Q325Q NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 503 PH. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GTGATGCCCAACTTATTTATT 0.323 GPR98 84059 broad.mit.edu 37 5 89986845 89986845 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr5:89986845C>T uc003kju.2 + 31 7034 c.6938C>T c.(6937-6939)CCG>CTG p.P2313L GPR98_uc003kjt.2_Intron|GPR98_uc003kjv.2_5'Flank NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2313 Calx-beta 16.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GACGACGTTCCGGAGATTGAA 0.468 TRPC7 57113 broad.mit.edu 37 5 135583350 135583350 + Silent SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr5:135583350G>A uc003lbn.1 - 6 1653 c.1650C>T c.(1648-1650)AGC>AGT p.S550S TRPC7_uc010jef.1_Silent_p.S487S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.S481S|TRPC7_uc010jei.1_Silent_p.S426S|TRPC7_uc010jej.1_Silent_p.S102S NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 551 Helical; (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCGAGAGAAGCTCAGCACGA 0.502 GABRA1 2554 broad.mit.edu 37 5 161324264 161324264 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr5:161324264G>A uc010jiw.2 + 11 1675 c.1207G>A c.(1207-1209)GAA>AAA p.E403K GABRA1_uc010jix.2_Missense_Mutation_p.E403K|GABRA1_uc010jiy.2_Missense_Mutation_p.E403K|GABRA1_uc003lyx.3_Missense_Mutation_p.E403K|GABRA1_uc010jiz.2_Missense_Mutation_p.E403K|GABRA1_uc010jja.2_Missense_Mutation_p.E403K|GABRA1_uc010jjb.2_Missense_Mutation_p.E403K NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 403 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GGTCAAGCCCGAAACAAAACC 0.473 CUL9 23113 broad.mit.edu 37 6 43181519 43181519 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr6:43181519G>A uc003ouk.2 + 29 5632 c.5557G>A c.(5557-5559)GCA>ACA p.A1853T CUL9_uc003oul.2_Intron|CUL9_uc010jyk.2_Missense_Mutation_p.A1005T|CUL9_uc003oun.2_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1853 Missing (in Ref. 3; CAH18696). ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 ACCTCCCCAGGCATACCTGAA 0.577 CLIC5 53405 broad.mit.edu 37 6 45882070 45882070 + Silent SNP G A A rs146052023 TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr6:45882070G>A uc003oxv.3 - 5 1066 c.960C>T c.(958-960)GAC>GAT p.D320D CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Silent_p.D161D NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 320 GST C-terminal. female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 AAGTGTTGGCGTCAATCTCCT 0.537 STX7 8417 broad.mit.edu 37 6 132792715 132792715 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr6:132792715G>A uc003qdg.2 - 5 524 c.274C>T c.(274-276)CGC>TGC p.R92C STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron NM_003569 NP_003560 O15400 STX7_HUMAN syntaxin 7 92 Cytoplasmic (Potential). intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity 0 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) GCCACTAAGCGATCCTTCTGT 0.453 PDE1C 5137 broad.mit.edu 37 7 31890345 31890345 + Missense_Mutation SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:31890345G>A uc003tcm.1 - 8 1230 c.761C>T c.(760-762)ACG>ATG p.T254M PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.1_Missense_Mutation_p.T314M|PDE1C_uc003tcr.2_Missense_Mutation_p.T254M|PDE1C_uc003tcs.2_Missense_Mutation_p.T254M NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 254 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CTCCAGCTCCGTCAGCCAGTT 0.463 ABCA13 154664 broad.mit.edu 37 7 48556332 48556332 + Missense_Mutation SNP T C C TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:48556332T>C uc003toq.2 + 52 13677 c.13652T>C c.(13651-13653)CTT>CCT p.L4551P ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4551 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TATGCAACTCTTCCATGGATG 0.294 STEAP2 261729 broad.mit.edu 37 7 89856794 89856794 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:89856794C>T uc003ujz.2 + 3 1395 c.1002C>T c.(1000-1002)CTC>CTT p.L334L STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc010len.2_Silent_p.L334L|STEAP2_uc003uka.2_Silent_p.L334L|STEAP2_uc003ukb.2_Silent_p.L334L|STEAP2_uc003ukc.2_Silent_p.L334L|STEAP2_uc003ukd.2_Silent_p.L334L NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 334 Ferric oxidoreductase. electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) ATTTGTTTCTCAACATGGCTT 0.338 ZAN 7455 broad.mit.edu 37 7 100382333 100382333 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:100382333C>T uc003uwj.2 + 37 6876 c.6711C>T c.(6709-6711)GGC>GGT p.G2237G ZAN_uc003uwk.2_Silent_p.G2237G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.G287G NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2237 Extracellular (Potential).|TIL 4. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGTGTGAGGGCGCCAAAGTCC 0.612 IFRD1 3475 broad.mit.edu 37 7 112097053 112097053 + Frame_Shift_Del DEL A - - TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:112097053delA uc003vgh.2 + 5 812 c.369delA c.(367-369)AGAfs p.R123fs IFRD1_uc011kmn.1_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.2_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.2_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Frame_Shift_Del_p.R73fs NM_001007245 NP_001007246 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 123 multicellular organismal development|myoblast cell fate determination binding kidney(1)|central_nervous_system(1) 2 TGGAAAGGAGAATGACTTTAA 0.368 FLNC 2318 broad.mit.edu 37 7 128490536 128490536 + Silent SNP A G G TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:128490536A>G uc003vnz.3 + 32 5606 c.5397A>G c.(5395-5397)ACA>ACG p.T1799T FLNC_uc003voa.3_Silent_p.T1766T NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1799 Filamin 16. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GGGAGCTCACAGGTACTGCCC 0.463 FLNC 2318 broad.mit.edu 37 7 128493857 128493857 + Silent SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:128493857C>T uc003vnz.3 + 39 6659 c.6450C>T c.(6448-6450)ATC>ATT p.I2150I FLNC_uc003voa.3_Silent_p.I2117I NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2150 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCGCCACCATCGGCAGCACCT 0.662 C7orf49 78996 broad.mit.edu 37 7 134851619 134851619 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:134851619C>T uc003vsl.2 - 4 485 c.218G>A c.(217-219)CGC>CAC p.R73H C7orf49_uc003vsh.2_Intron|C7orf49_uc003vsj.2_Missense_Mutation_p.R44H|C7orf49_uc003vsk.2_RNA|C7orf49_uc003vsm.2_RNA|C7orf49_uc003vsn.2_Missense_Mutation_p.R72H|C7orf49_uc003vso.2_Missense_Mutation_p.R18H NM_024033 NP_076938 Q9BWK5 MRI_HUMAN modulator of retrovirus infection 73 cytoplasm large_intestine(1)|ovary(1) 2 TTCCTGTTTGCGGCTCTGTGG 0.552 ATP6V0A4 50617 broad.mit.edu 37 7 138453573 138453573 + Silent SNP G A A rs137955459 TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:138453573G>A uc003vuf.2 - 4 481 c.243C>T c.(241-243)CTC>CTT p.L81L ATP6V0A4_uc003vug.2_Silent_p.L81L|ATP6V0A4_uc003vuh.2_Silent_p.L81L NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 81 Cytoplasmic (Potential). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 GGCTTTTCTCGAGCAACTGAA 0.483 KEL 3792 broad.mit.edu 37 7 142658446 142658446 + Splice_Site SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr7:142658446C>T uc003wcb.2 - 3 433 c.223_splice c.e3+1 p.R75_splice NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) ATCTTGCTTACGAGGGCCACA 0.602 FAM83H 286077 broad.mit.edu 37 8 144810766 144810766 + Missense_Mutation SNP C T T TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr8:144810766C>T uc003yzk.2 - 5 934 c.865G>A c.(865-867)GCG>ACG p.A289T FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 289 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCAGGGCCGCGGCCGAGGGC 0.711 EPPK1 83481 broad.mit.edu 37 8 144940597 144940597 + Silent SNP G A A TCGA-06-5415-01A-01D-1486-08 TCGA-06-5415-10A-01D-1486-08 Somatic Phase_I Capture Illumina GAIIx fca08ee9-b480-4dc7-be56-f1eb03b56f7c e09e94f5-bd10-4523-bc83-d441a285c37c g.chr8:144940597G>A uc003zaa.1 - 2 14848 c.14835C>T c.(14833-14835)CCC>CCT p.P4945P NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 4945 Plectin 62. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGTTGCGCACGGGGTCGATGA 0.721