Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter KAZ 23254 broad.mit.edu 37 1 14925537 14925537 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:14925537C>T uc001avm.3 + 1 325 c.44C>T c.(43-45)GCG>GTG p.A15V KAZ_uc009vog.1_Missense_Mutation_p.A15V|KAZ_uc010obj.1_Missense_Mutation_p.A15V NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 15 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 ATCGATGGGGCGGTCCAGTCG 0.517 22 19 --- --- --- --- PASS PIGV 55650 broad.mit.edu 37 1 27121695 27121695 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:27121695G>T uc001bmz.2 + 3 1501 c.1170G>T c.(1168-1170)CTG>CTT p.L390L PIGV_uc001bmy.2_Silent_p.L155L|PIGV_uc009vso.2_Silent_p.L390L|PIGV_uc010ofg.1_Silent_p.L155L|PIGV_uc001bna.2_Silent_p.L390L NM_017837 NP_060307 Q9NUD9 PIGV_HUMAN phosphatidylinositol glycan class V 390 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane glycolipid mannosyltransferase activity ovary(1) 1 all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227) CAGTGCTGCTGCTGTTTGGAG 0.527 20 286 --- --- --- --- PASS C8B 732 broad.mit.edu 37 1 57395227 57395227 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:57395227G>A uc001cyp.2 - 12 1693 c.1626C>T c.(1624-1626)ACC>ACT p.T542T C8B_uc010oon.1_Silent_p.T480T|C8B_uc010ooo.1_Silent_p.T490T NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 542 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 CATCAATGGGGGTATCTATAA 0.438 34 51 --- --- --- --- PASS ZNF326 284695 broad.mit.edu 37 1 90470764 90470764 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:90470764A>G uc001dnq.2 + 4 309 c.170A>G c.(169-171)TAT>TGT p.Y57C ZNF326_uc001dnp.3_Missense_Mutation_p.Y57C|ZNF326_uc009wda.1_Missense_Mutation_p.Y57C|ZNF326_uc001dnr.2_Intron NM_182976 NP_892021 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 isoform 1 57 Mediates transcriptional activation (By similarity).|Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding ovary(1) 1 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) AACCAGTCATATGGCATGGAC 0.388 79 51 --- --- --- --- PASS MOV10 4343 broad.mit.edu 37 1 113231671 113231671 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:113231671C>A uc001eck.2 + 3 522 c.252C>A c.(250-252)GAC>GAA p.D84E MOV10_uc001ecl.2_Missense_Mutation_p.D84E|MOV10_uc001ecn.2_Missense_Mutation_p.D84E|MOV10_uc001ecm.2_Missense_Mutation_p.D24E|MOV10_uc009wgj.1_Missense_Mutation_p.D24E NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 84 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) GCTGGGCCGACGTGCGGTTCC 0.522 3 83 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144886121 144886121 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:144886121C>G uc001elw.3 - 23 3404 c.3113G>C c.(3112-3114)GGA>GCA p.G1038A NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.G1104A|PDE4DIP_uc001elv.3_Missense_Mutation_p.G45A NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1038 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGAGGAGAATCCTGCTTCCTC 0.542 T PDGFRB MPD 23 184 --- --- --- --- PASS GABPB2 126626 broad.mit.edu 37 1 151060740 151060740 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:151060740G>T uc001ewr.2 + 2 406 c.75G>T c.(73-75)TTG>TTT p.L25F GABPB2_uc010pcp.1_Missense_Mutation_p.L25F|GABPB2_uc001ews.2_Missense_Mutation_p.L25F NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN GA repeat binding protein, beta 2 25 ANK 1. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding 0 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) TGAGAACGTTGATGGCAAATG 0.413 28 28 --- --- --- --- PASS IVL 3713 broad.mit.edu 37 1 152883951 152883951 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:152883951C>A uc001fau.2 + 2 1724 c.1678C>A c.(1678-1680)CCC>ACC p.P560T NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 560 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ACCAGCCCTGCCCACAAAGGG 0.423 116 138 --- --- --- --- PASS ILF2 3608 broad.mit.edu 37 1 153637754 153637754 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:153637754C>T uc001fcr.2 - 8 600 c.519G>A c.(517-519)GTG>GTA p.V173V ILF2_uc010pdy.1_Silent_p.V135V|ILF2_uc009wok.2_Silent_p.V151V|ILF2_uc009wol.1_3'UTR NM_004515 NP_004506 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 173 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGAGAATCTTCACTGTAGCAT 0.358 6 198 --- --- --- --- PASS ATP8B2 57198 broad.mit.edu 37 1 154317830 154317830 + Nonsense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:154317830G>T uc001fex.2 + 23 2602 c.2602G>T c.(2602-2604)GAA>TAA p.E868* NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 854 Cytoplasmic (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGTGGGCAGGAAGGGATCCA 0.577 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 559 287 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175092654 175092654 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:175092654C>T uc001gkl.1 + 12 2882 c.2769C>T c.(2767-2769)GAC>GAT p.D923D NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 923 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTCTGCTGACGGAGAGACCA 0.602 34 142 --- --- --- --- PASS QSOX1 5768 broad.mit.edu 37 1 180135629 180135629 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:180135629G>T uc001gnz.2 + 2 344 c.269G>T c.(268-270)TGG>TTG p.W90L QSOX1_uc001gny.2_Missense_Mutation_p.W90L|QSOX1_uc001goa.2_Missense_Mutation_p.W90L NM_002826 NP_002817 O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 isoform a 90 Thioredoxin. cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity ovary(1)|central_nervous_system(1) 2 CTTTCAGCCTGGAGGCCGGCC 0.597 24 200 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390726 197390726 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:197390726A>G uc001gtz.2 + 6 1903 c.1768A>G c.(1768-1770)AAA>GAA p.K590E CRB1_uc010poz.1_Missense_Mutation_p.K521E|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.K478E|CRB1_uc010ppb.1_Missense_Mutation_p.K590E|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.K71E|CRB1_uc001gub.1_Missense_Mutation_p.K239E NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 590 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CTGTAAGGAGAAATGCATCGC 0.458 4 415 --- --- --- --- PASS KIF14 9928 broad.mit.edu 37 1 200567388 200567388 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:200567388C>A uc010ppk.1 - 14 2965 c.2526G>T c.(2524-2526)GGG>GGT p.G842G KIF14_uc010ppj.1_Silent_p.G351G NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 842 FHA. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 CAATCAGCACCCCAGATAACT 0.353 18 39 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204429749 204429749 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:204429749G>A uc001haw.2 - 7 1830 c.1351C>T c.(1351-1353)CGC>TGC p.R451C PIK3C2B_uc010pqv.1_Missense_Mutation_p.R451C|PIK3C2B_uc001hax.1_Missense_Mutation_p.R451C|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 451 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) TCAAACTTGCGGCAGTATTGG 0.562 19 107 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216219911 216219911 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:216219911C>A uc001hku.1 - 32 6574 c.6187G>T c.(6187-6189)GTA>TTA p.V2063L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2063 Extracellular (Potential).|Fibronectin type-III 7. 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) GATTTGGCTACTGGTGGCTGA 0.403 HNSCC(13;0.011) 15 104 --- --- --- --- PASS C1orf58 148362 broad.mit.edu 37 1 222904850 222904850 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:222904850G>A uc001hnq.1 + 12 1536 c.1141G>A c.(1141-1143)GAT>AAT p.D381N C1orf58_uc010put.1_Missense_Mutation_p.D349N|C1orf58_uc010puu.1_Intron|C1orf58_uc010puv.1_Missense_Mutation_p.D349N|uc001hnr.1_Intron|uc001hns.1_5'Flank NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 381 BRO1. membrane 0 GBM - Glioblastoma multiforme(131;0.0667) AAGACCCAAGGATGACAGTGT 0.353 37 147 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947189 237947189 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:237947189G>A uc001hyl.1 + 90 12297 c.12177G>A c.(12175-12177)ACG>ACA p.T4059T RYR2_uc010pya.1_Silent_p.T474T NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4059 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) AGCACTACACGCAGTCAGAAA 0.483 9 43 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343413 248343413 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr1:248343413C>A uc010pzf.1 + 1 126 c.126C>A c.(124-126)AAC>AAA p.N42K NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCATGGGAAACTCTGTCATGG 0.522 12 829 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1653368 1653368 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:1653368G>A uc002qxa.2 - 17 2248 c.2184C>T c.(2182-2184)CGC>CGT p.R728R NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 728 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGTTGTTCACGCGCCGGTGGG 0.602 10 236 --- --- --- --- PASS MFSD2B 388931 broad.mit.edu 37 2 24245357 24245357 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:24245357C>T uc002reo.1 + 9 963 c.949C>T c.(949-951)CAC>TAC p.H317Y NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 317 transport integral to membrane ovary(2) 2 GCTACACGACCACGTCCAGGG 0.607 23 39 --- --- --- --- PASS OTOF 9381 broad.mit.edu 37 2 26739434 26739434 + Missense_Mutation SNP T G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:26739434T>G uc002rhk.2 - 5 488 c.361A>C c.(361-363)ACT>CCT p.T121P OTOF_uc010ylb.1_RNA NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 121 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGCCGTCAGTGGCCTGATAC 0.607 113 169 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31588405 31588405 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:31588405C>A uc002rnv.1 - 23 2541 c.2462G>T c.(2461-2463)GGC>GTC p.G821V NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 821 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CACAGGGCGGCCGGTCCTGGG 0.547 92 154 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190321 49190321 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:49190321C>A uc002rww.2 - 10 1713 c.1639G>T c.(1639-1641)GGC>TGC p.G547C FSHR_uc002rwx.2_Missense_Mutation_p.G485C|FSHR_uc010fbn.2_Missense_Mutation_p.G521C NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 547 Helical; Name=5; (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ATATAGCAGCCACAGATGACC 0.537 Gonadal_Dysgenesis_46_XX 32 57 --- --- --- --- PASS GKN2 200504 broad.mit.edu 37 2 69173523 69173523 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:69173523C>A uc002sfa.2 - 5 494 c.385G>T c.(385-387)GAC>TAC p.D129Y GKN2_uc002sfb.3_Missense_Mutation_p.D129Y NM_182536 NP_872342 Q86XP6 GKN2_HUMAN trefoil factor interactions(z) 1 precursor 129 BRICHOS. extracellular region 0 CAATCCACGTCTTTGATCAGA 0.443 8 376 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90121855 90121855 + RNA SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:90121855C>T uc010fhm.2 + 16 c.1724C>T Parts of antibodies, mostly variable regions. ATGTAACATCCAGATGACCCA 0.438 133 339 --- --- --- --- PASS VWA3B 200403 broad.mit.edu 37 2 98797501 98797501 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:98797501G>T uc002syo.2 + 9 1401 c.1137G>T c.(1135-1137)GAG>GAT p.E379D VWA3B_uc010yvh.1_Missense_Mutation_p.E229D|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.E379D|VWA3B_uc002syn.1_RNA|VWA3B_uc010yvi.1_Missense_Mutation_p.E36D NM_144992 NP_659429 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 379 ovary(3)|large_intestine(2)|skin(1) 6 CCTCTGTTGAGATTGCATCGA 0.448 39 96 --- --- --- --- PASS TBC1D8 11138 broad.mit.edu 37 2 101656738 101656738 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:101656738G>A uc010fiv.2 - 6 1068 c.937C>T c.(937-939)CGC>TGC p.R313C TBC1D8_uc010yvw.1_Missense_Mutation_p.R328C|TBC1D8_uc002tau.3_Missense_Mutation_p.R70C NM_001102426 NP_001095896 O95759 TBCD8_HUMAN TBC1 domain family, member 8 313 GRAM 2. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity ovary(3) 3 GTGTGACAGCGACTGAACGGC 0.567 35 169 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103148906 103148906 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:103148906G>A uc002tbz.3 + 12 2613 c.2156G>A c.(2155-2157)GGA>GAA p.G719E NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 719 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 CTACACAGAGGAAGGAAGGCA 0.478 6 165 --- --- --- --- PASS IL1A 3552 broad.mit.edu 37 2 113532838 113532838 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:113532838G>A uc002tig.2 - 7 1582 c.622C>T c.(622-624)CCT>TCT p.P208S NM_000575 NP_000566 P01583 IL1A_HUMAN interleukin 1, alpha proprotein 208 anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding lung(1) 1 GGTATCTCAGGCATCTCCTAT 0.428 6 148 --- --- --- --- PASS RALB 5899 broad.mit.edu 37 2 121036296 121036296 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:121036296T>C uc002tmk.2 + 2 246 c.56T>C c.(55-57)ATG>ACG p.M19T RALB_uc010yys.1_Missense_Mutation_p.M41T|RALB_uc002tml.2_Missense_Mutation_p.M19T|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_RNA NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 19 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) AAGGTGATCATGGTTGGCAGC 0.567 35 76 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136562337 136562337 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:136562337C>T uc002tuu.1 - 10 4475 c.4464G>A c.(4462-4464)CAG>CAA p.Q1488Q NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1488 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CCCACCATACCTGGGGCTGGA 0.542 43 60 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162751189 162751189 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:162751189G>T uc002ubx.3 + 11 1379 c.1195G>T c.(1195-1197)GTA>TTA p.V399L SLC4A10_uc010fpa.1_Missense_Mutation_p.V411L|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.V369L|SLC4A10_uc010zcs.1_Missense_Mutation_p.V380L NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 399 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TCTTCTAAAGGTATTTCATGA 0.294 5 7 --- --- --- --- PASS SP3 6670 broad.mit.edu 37 2 174820742 174820742 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:174820742G>A uc002uig.2 - 4 662 c.498C>T c.(496-498)TCC>TCT p.S166S SP3_uc002uie.2_Silent_p.S98S|SP3_uc002uif.2_Silent_p.S113S|SP3_uc010zel.1_Silent_p.S163S NM_003111 NP_003102 Q02447 SP3_HUMAN Sp3 transcription factor isoform 1 166 Transactivation domain (Gln-rich). negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.185) ATTGAACACTGGACACTGTAC 0.418 314 261 --- --- --- --- PASS CWC22 57703 broad.mit.edu 37 2 180815589 180815589 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:180815589T>C uc010frh.1 - 18 2182 c.1882A>G c.(1882-1884)ATC>GTC p.I628V CWC22_uc002uno.2_Missense_Mutation_p.I150V|CWC22_uc002unp.2_Missense_Mutation_p.I628V NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 628 catalytic step 2 spliceosome protein binding|RNA binding 0 AAGAAGTTGATGGCAAACCGA 0.313 5 4 --- --- --- --- PASS ZSWIM2 151112 broad.mit.edu 37 2 187694599 187694599 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:187694599T>C uc002upu.1 - 8 990 c.950A>G c.(949-951)TAC>TGC p.Y317C NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 317 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) TTTTGGTGTGTAAACTTGGCT 0.373 84 76 --- --- --- --- PASS CRYGA 1418 broad.mit.edu 37 2 209028060 209028060 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:209028060G>T uc002vcq.3 - 2 137 c.120C>A c.(118-120)AGC>AGA p.S40R NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 40 Beta/gamma crystallin 'Greek key' 1. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) TCCAGCAGCCGCTGTCTACTC 0.592 9 81 --- --- --- --- PASS IDH1 3417 broad.mit.edu 37 2 209103872 209103872 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:209103872C>A uc002vcs.2 - 9 1323 c.1077G>T c.(1075-1077)TTG>TTT p.L359F IDH1_uc002vct.2_Missense_Mutation_p.L359F|IDH1_uc002vcu.2_Missense_Mutation_p.L359F NM_005896 NP_005887 O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 359 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1) 2868 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) AGACTTCTTCCAAAGCATTTG 0.428 Mis gliobastoma 4 113 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216288136 216288136 + Nonsense_Mutation SNP T A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:216288136T>A uc002vfa.2 - 9 1596 c.1330A>T c.(1330-1332)AAG>TAG p.K444* FN1_uc002vfb.2_Nonsense_Mutation_p.K444*|FN1_uc002vfc.2_Nonsense_Mutation_p.K444*|FN1_uc002vfd.2_Nonsense_Mutation_p.K444*|FN1_uc002vfe.2_Nonsense_Mutation_p.K444*|FN1_uc002vff.2_Nonsense_Mutation_p.K444*|FN1_uc002vfg.2_Nonsense_Mutation_p.K444*|FN1_uc002vfh.2_Nonsense_Mutation_p.K444*|FN1_uc002vfi.2_Nonsense_Mutation_p.K444*|FN1_uc002vfj.2_Nonsense_Mutation_p.K444*|FN1_uc002vfl.2_Nonsense_Mutation_p.K444* NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 444 Fibronectin type-II 2.|Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACACCACTTCATGTTGTCT 0.488 80 79 --- --- --- --- PASS STK16 8576 broad.mit.edu 37 2 220111955 220111955 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:220111955G>T uc002vko.2 + 4 584 c.427G>T c.(427-429)GGT>TGT p.G143C GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Intron|STK16_uc010zky.1_Missense_Mutation_p.G143C|STK16_uc010fwf.2_Missense_Mutation_p.G143C|STK16_uc002vkp.2_Missense_Mutation_p.G143C|STK16_uc002vkr.2_Missense_Mutation_p.G76C|STK16_uc002vkq.2_Missense_Mutation_p.G188C NM_001008910 NP_001008910 O75716 STK16_HUMAN serine/threonine kinase 16 143 Protein kinase. protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCATGCCAAGGGTTATGCCCA 0.562 21 141 --- --- --- --- PASS CUL3 8452 broad.mit.edu 37 2 225378357 225378357 + Splice_Site SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:225378357T>C uc002vny.2 - 5 924 c.540_splice c.e5-1 p.R180_splice CUL3_uc010zls.1_Splice_Site_p.R114_splice|CUL3_uc010fwy.1_Splice_Site_p.R186_splice NM_003590 NP_003581 Q13618 CUL3_HUMAN cullin 3 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1) 4 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ATTGCGCCTCTGTCGAAAAAA 0.303 7 43 --- --- --- --- PASS ASB1 51665 broad.mit.edu 37 2 239344490 239344490 + Missense_Mutation SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:239344490A>C uc002vyg.2 + 3 416 c.330A>C c.(328-330)AAA>AAC p.K110N NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box-containing protein 110 ANK 3. intracellular signal transduction|negative regulation of cytokine biosynthetic process 0 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) TGGACGTAAAAGGACAGACGG 0.627 8 98 --- --- --- --- PASS PASK 23178 broad.mit.edu 37 2 242066525 242066525 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr2:242066525G>A uc002wao.1 - 10 1897 c.1805C>T c.(1804-1806)GCG>GTG p.A602V PASK_uc010zol.1_Missense_Mutation_p.A416V|PASK_uc010zom.1_Missense_Mutation_p.A567V|PASK_uc010fzl.1_Missense_Mutation_p.A602V|PASK_uc010zon.1_Missense_Mutation_p.A383V|PASK_uc002wap.2_Missense_Mutation_p.A145V|PASK_uc002waq.2_Missense_Mutation_p.A602V NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 602 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCTGCCCCCCGCCAGCTGACC 0.672 12 160 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1262456 1262456 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:1262456C>A uc003boz.2 + 3 408 c.141C>A c.(139-141)ATC>ATA p.I47I CNTN6_uc010hbo.2_Silent_p.I42I|CNTN6_uc011asj.1_5'UTR|CNTN6_uc003bpa.2_Silent_p.I47I NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 47 Ig-like C2-type 1. 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) CTGAGGTCATCCTGAATTGTG 0.383 98 71 --- --- --- --- PASS TBC1D5 9779 broad.mit.edu 37 3 17279903 17279903 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:17279903G>C uc003cbf.2 - 17 3005 c.1340C>G c.(1339-1341)GCC>GGC p.A447G TBC1D5_uc010heu.2_Missense_Mutation_p.A34G|TBC1D5_uc010hev.2_Missense_Mutation_p.A447G|TBC1D5_uc003cbe.2_Missense_Mutation_p.A447G|TBC1D5_uc010hew.1_Missense_Mutation_p.A399G NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 447 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 AGCACCTTTGGCATTGGTCCT 0.383 40 27 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19190249 19190249 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:19190249C>T uc003cbk.1 + 1 233 c.38C>T c.(37-39)ACC>ATC p.T13I KCNH8_uc011awe.1_Missense_Mutation_p.T13I|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 13 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CCGCAAAACACCTTCCTGGAC 0.458 102 56 --- --- --- --- PASS SGOL1 151648 broad.mit.edu 37 3 20225133 20225133 + Silent SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:20225133T>C uc003cbs.2 - 3 493 c.306A>G c.(304-306)AAA>AAG p.K102K SGOL1_uc003cbr.2_Silent_p.K102K|SGOL1_uc010hfa.2_Silent_p.K102K|SGOL1_uc003cbt.2_Silent_p.K102K|SGOL1_uc003cbu.2_Silent_p.K102K|SGOL1_uc003cbv.2_Silent_p.K102K|SGOL1_uc003cbw.2_Silent_p.K102K|SGOL1_uc003cbx.2_Silent_p.K102K|SGOL1_uc003cby.2_Silent_p.K102K|SGOL1_uc003cbz.2_Silent_p.K102K|SGOL1_uc003cca.2_Silent_p.K102K|SGOL1_uc003ccb.2_Silent_p.K102K|SGOL1_uc003ccc.2_Silent_p.K102K NM_001012410 NP_001012410 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 isoform A2 102 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding 0 GTGATGTAAGTTTTCCTTTCA 0.333 7 122 --- --- --- --- PASS RARB 5915 broad.mit.edu 37 3 25542676 25542676 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:25542676T>C uc011awl.1 + 3 397 c.331T>C c.(331-333)TTT>CTT p.F111L RARB_uc003cdi.1_5'UTR|RARB_uc003cdh.2_Missense_Mutation_p.F104L NM_016152 NP_057236 P10826 RARB_HUMAN retinoic acid receptor, beta isoform 2 111 Nuclear receptor. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|large_intestine(1)|pancreas(1) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CTTGCAGGGCTTTTTCCGCAG 0.368 3 154 --- --- --- --- PASS LRRC3B 116135 broad.mit.edu 37 3 26751352 26751352 + Silent SNP T A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:26751352T>A uc003cdp.2 + 2 778 c.189T>A c.(187-189)CCT>CCA p.P63P LRRC3B_uc003cdq.2_Silent_p.P63P NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN leucine rich repeat containing 3B precursor 63 LRRNT. integral to membrane pancreas(2)|ovary(1)|skin(1) 4 GAGATCTTCCTCCTGAAACAG 0.433 65 47 --- --- --- --- PASS DLEC1 9940 broad.mit.edu 37 3 38159350 38159350 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:38159350G>A uc003cho.1 + 33 4560 c.4539G>A c.(4537-4539)GAG>GAA p.E1513E DLEC1_uc003chp.1_Silent_p.E1513E|DLEC1_uc010hgv.1_Silent_p.E1516E|DLEC1_uc003chr.1_Silent_p.E584E|DLEC1_uc003chs.1_Silent_p.E70E NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 1513 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ACACTACAGAGATCCCACACT 0.592 OREG0015476 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 343 --- --- --- --- PASS ERC2 26059 broad.mit.edu 37 3 55922517 55922517 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:55922517G>A uc003dhr.1 - 14 2720 c.2464C>T c.(2464-2466)CGC>TGC p.R822C ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Missense_Mutation_p.R301C NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 822 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GAGGCGAGGCGTGCTTTGGTG 0.522 32 382 --- --- --- --- PASS PDE12 201626 broad.mit.edu 37 3 57542759 57542759 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:57542759C>T uc003diw.3 + 1 779 c.653C>T c.(652-654)CCC>CTC p.P218L PDE12_uc003div.2_Missense_Mutation_p.P218L NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 218 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) TCATTGTCTCCCTCCTCACCT 0.597 88 236 --- --- --- --- PASS SLMAP 7871 broad.mit.edu 37 3 57835536 57835536 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:57835536A>G uc003dje.1 + 5 717 c.512A>G c.(511-513)TAT>TGT p.Y171C SLMAP_uc003djc.1_Missense_Mutation_p.Y171C|SLMAP_uc003djd.1_Missense_Mutation_p.Y171C|SLMAP_uc003djf.1_Missense_Mutation_p.Y171C NM_007159 NP_009090 Q14BN4 SLMAP_HUMAN sarcolemma associated protein 171 Cytoplasmic (Potential).|Potential. muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) CTTTCTCAGTATCTACAGGTA 0.299 51 48 --- --- --- --- PASS SENP7 57337 broad.mit.edu 37 3 101086710 101086710 + Silent SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:101086710T>C uc003dut.2 - 8 1053 c.942A>G c.(940-942)CAA>CAG p.Q314Q SENP7_uc003duu.2_Silent_p.Q249Q|SENP7_uc003duv.2_Silent_p.Q281Q|SENP7_uc003duw.2_Silent_p.Q248Q|SENP7_uc003dux.2_Silent_p.Q150Q NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 314 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 AAGTACAATATTGAGAATCAG 0.323 22 23 --- --- --- --- PASS BBX 56987 broad.mit.edu 37 3 107491664 107491664 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:107491664G>A uc010hpr.2 + 11 1423 c.1096G>A c.(1096-1098)GAT>AAT p.D366N BBX_uc003dwk.3_Missense_Mutation_p.D366N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D387N|BBX_uc003dwm.3_Missense_Mutation_p.D366N|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 366 Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) AAATTTAAGAGATTCTAAGGA 0.318 5 91 --- --- --- --- PASS CCDC52 152185 broad.mit.edu 37 3 113172482 113172482 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:113172482G>C uc003eag.3 - 14 2264 c.1973C>G c.(1972-1974)ACA>AGA p.T658R CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.T554R NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 658 cell division|mitosis centriole|spindle protein binding 0 TGACTCATTTGTTCTCAGCTG 0.423 84 175 --- --- --- --- PASS ATP6V1A 523 broad.mit.edu 37 3 113514756 113514756 + Silent SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:113514756A>C uc003eao.2 + 11 1326 c.1260A>C c.(1258-1260)CCA>CCC p.P420P ATP6V1A_uc011bik.1_Silent_p.P387P NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 420 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to 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 ovary(2)|skin(1) 3 TTTCTGATCCAGTTACATCTG 0.378 62 37 --- --- --- --- PASS ATP6V1A 523 broad.mit.edu 37 3 113514757 113514757 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:113514757G>A uc003eao.2 + 11 1327 c.1261G>A c.(1261-1263)GTT>ATT p.V421I ATP6V1A_uc011bik.1_Missense_Mutation_p.V388I NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 421 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to 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 ovary(2)|skin(1) 3 TTCTGATCCAGTTACATCTGC 0.383 59 36 --- --- --- --- PASS EAF2 55840 broad.mit.edu 37 3 121591526 121591526 + Silent SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:121591526A>G uc003een.2 + 5 726 c.627A>G c.(625-627)ACA>ACG p.T209T EAF2_uc003eeo.2_Silent_p.T79T NM_018456 NP_060926 Q96CJ1 EAF2_HUMAN ELL associated factor 2 209 Necessary for transactivation activity. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding 0 GBM - Glioblastoma multiforme(114;0.0972) CTTCTGATACAGGGAATTGTG 0.403 4 60 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133485154 133485154 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:133485154G>T uc003epu.1 + 17 3091 c.1363G>T c.(1363-1365)GCT>TCT p.A455S TF_uc011blt.1_Missense_Mutation_p.A328S|TF_uc003epw.1_Intron|TF_uc003epv.1_Missense_Mutation_p.A455S NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 455 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) GAAGAAATCAGCTTCTGACCT 0.498 182 387 --- --- --- --- PASS MME 4311 broad.mit.edu 37 3 154832874 154832874 + Silent SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:154832874C>G uc010hvr.1 + 4 499 c.288C>G c.(286-288)GTC>GTG p.V96V MME_uc003fab.1_Silent_p.V96V|MME_uc003fac.1_Silent_p.V96V|MME_uc003fad.1_Silent_p.V96V|MME_uc003fae.1_Silent_p.V96V NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 96 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AACGTAATGTCATTCCCGAGA 0.448 12 302 --- --- --- --- PASS PDCD10 11235 broad.mit.edu 37 3 167422680 167422680 + Nonsense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:167422680C>A uc003fex.2 - 4 498 c.100G>T c.(100-102)GAA>TAA p.E34* PDCD10_uc003fez.2_Nonsense_Mutation_p.E34*|PDCD10_uc003fey.2_Nonsense_Mutation_p.E34* NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 34 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 TTTACTCGTTCTAGCTGCaat 0.328 Familial_Cerebral_Cavernous_Angioma 11 86 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173997009 173997009 + Silent SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:173997009A>T uc003fio.1 + 6 1641 c.1218A>T c.(1216-1218)ATA>ATT p.I406I NLGN1_uc010hww.1_Silent_p.I446I|NLGN1_uc003fip.1_Silent_p.I406I NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 423 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATGATGGTATATCAGCTAGTG 0.333 7 409 --- --- --- --- PASS ZNF639 51193 broad.mit.edu 37 3 179051102 179051102 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:179051102C>T uc003fjq.1 + 6 693 c.350C>T c.(349-351)CCT>CTT p.P117L ZNF639_uc003fjr.1_Missense_Mutation_p.P117L NM_016331 NP_057415 Q9UID6 ZN639_HUMAN zinc finger protein 639 117 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding 0 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) TGTGACTCACCTGAATCAGTC 0.358 41 109 --- --- --- --- PASS YEATS2 55689 broad.mit.edu 37 3 183491565 183491565 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:183491565G>A uc003fly.2 + 17 2546 c.2351G>A c.(2350-2352)CGA>CAA p.R784Q YEATS2_uc003flz.2_5'Flank NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 784 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GCCATCCTGCGAGCTACGAAC 0.453 7 379 --- --- --- --- PASS IGF2BP2 10644 broad.mit.edu 37 3 185407394 185407394 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:185407394C>T uc003fpo.2 - 6 505 c.426G>A c.(424-426)GGG>GGA p.G142G IGF2BP2_uc010hyi.2_Silent_p.G85G|IGF2BP2_uc010hyj.2_Silent_p.G79G|IGF2BP2_uc010hyk.2_Silent_p.G6G|IGF2BP2_uc010hyl.2_Silent_p.G79G|IGF2BP2_uc003fpp.2_Silent_p.G142G|IGF2BP2_uc003fpq.2_Silent_p.G147G NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding 142 RRM 2. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity 0 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CAAACTGATGCCCGCTTAGCT 0.498 6 684 --- --- --- --- PASS LPP 4026 broad.mit.edu 37 3 188124045 188124045 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:188124045C>T uc003frs.1 + 3 383 c.137C>T c.(136-138)GCC>GTC p.A46V LPP_uc011bsg.1_Missense_Mutation_p.A46V|LPP_uc011bsi.1_Missense_Mutation_p.A46V|LPP_uc003frt.2_Missense_Mutation_p.A46V NM_005578 NP_005569 Q93052 LPP_HUMAN LIM domain containing preferred translocation 46 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1) 165 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) AAAAAGTTTGCCCCGGTAGTT 0.512 T HMGA2|MLL|C12orf9 lipoma|leukemia 8 765 --- --- --- --- PASS LRRC15 131578 broad.mit.edu 37 3 194080189 194080189 + Missense_Mutation SNP G C C rs115511298 byFrequency TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:194080189G>C uc003ftu.2 - 2 1670 c.1584C>G c.(1582-1584)AGC>AGG p.S528R LRRC15_uc003ftt.2_Missense_Mutation_p.S534R NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 528 Extracellular (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) TGCCCCAAACGCTGCGGTCAT 0.587 80 230 --- --- --- --- PASS UBXN7 26043 broad.mit.edu 37 3 196094906 196094906 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:196094906G>A uc003fwm.3 - 8 902 c.827C>T c.(826-828)GCC>GTC p.A276V UBXN7_uc003fwn.3_Missense_Mutation_p.A128V|UBXN7_uc010iae.2_Missense_Mutation_p.A114V NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 276 protein binding ovary(2)|pancreas(1) 3 TACTGAACGGGCACATTTTTT 0.388 6 544 --- --- --- --- PASS SH3TC1 54436 broad.mit.edu 37 4 8229064 8229064 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:8229064G>T uc003gkv.3 + 12 1744 c.1643G>T c.(1642-1644)GGG>GTG p.G548V SH3TC1_uc003gkw.3_Missense_Mutation_p.G472V|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 548 binding large_intestine(2)|pancreas(1) 3 CAGGCCCGGGGGGCGGCCAAG 0.697 17 30 --- --- --- --- PASS PROM1 8842 broad.mit.edu 37 4 16037384 16037384 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:16037384G>T uc003goo.2 - 3 489 c.277C>A c.(277-279)CCA>ACA p.P93T PROM1_uc003gor.2_Missense_Mutation_p.P93T|PROM1_uc003gos.2_Intron|PROM1_uc003got.2_Missense_Mutation_p.P93T|PROM1_uc003gou.2_Intron|PROM1_uc003gop.2_Intron|PROM1_uc003goq.3_Intron|PROM1_uc010iec.1_Intron NM_006017 NP_006008 O43490 PROM1_HUMAN prominin 1 isoform 1 93 Extracellular (Potential). camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 7 ACAGTTTCTGGCTGTAGAAGT 0.408 41 144 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22390725 22390725 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:22390725C>T uc003gqm.1 - 18 2974 c.2709G>A c.(2707-2709)CGG>CGA p.R903R GPR125_uc010ieo.1_Silent_p.R759R|GPR125_uc003gql.1_Silent_p.R30R NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 903 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) GTGCGTTTGGCCGACTGCCGT 0.418 5 432 --- --- --- --- PASS C4orf19 55286 broad.mit.edu 37 4 37592256 37592256 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:37592256C>A uc003gsw.3 + 4 762 c.579C>A c.(577-579)GGC>GGA p.G193G C4orf19_uc003gsy.3_Silent_p.G193G NM_001104629 NP_001098099 Q8IY42 CD019_HUMAN hypothetical protein LOC55286 193 0 AGCATTGGGGCCCAGCTGGAG 0.498 47 64 --- --- --- --- PASS DCAF4L1 285429 broad.mit.edu 37 4 41984871 41984871 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:41984871C>A uc003gwk.2 + 1 1159 c.1062C>A c.(1060-1062)TCC>TCA p.S354S NM_001029955 NP_001025126 Q3SXM0 DC4L1_HUMAN WD repeat domain 21B 354 skin(1) 1 CCATCCCTTCCCCGTACTCTG 0.637 44 101 --- --- --- --- PASS SHISA3 152573 broad.mit.edu 37 4 42403075 42403075 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:42403075G>T uc003gwp.2 + 2 542 c.324G>T c.(322-324)GCG>GCT p.A108A NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 108 Helical; (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 TCTTCATTGCGTTCATCATCC 0.502 134 290 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 43022436 43022436 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:43022436G>C uc003gwt.2 + 3 693 c.693G>C c.(691-693)GAG>GAC p.E231D NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 231 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 CCAAAATTGAGGTAAATGTGC 0.333 11 48 --- --- --- --- PASS ODAM 54959 broad.mit.edu 37 4 71063746 71063746 + Missense_Mutation SNP T G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:71063746T>G uc003hfc.2 + 4 264 c.247T>G c.(247-249)TTT>GTT p.F83V NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein 83 Gln-rich. biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 TCTAGACCAGTTTGCTGGACT 0.483 126 769 --- --- --- --- PASS FGF5 2250 broad.mit.edu 37 4 81207593 81207593 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:81207593C>A uc003hmd.2 + 3 811 c.574C>A c.(574-576)CTG>ATG p.L192M FGF5_uc003hme.2_3'UTR NM_004464 NP_004455 P12034 FGF5_HUMAN fibroblast growth factor 5 isoform 1 precursor 192 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity ovary(1)|breast(1) 2 GTATGTGGCCCTGAATAAAAG 0.478 260 91 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89591400 89591400 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:89591400G>T uc003hrw.1 + 16 2074 c.1908G>T c.(1906-1908)GGG>GGT p.G636G HERC3_uc011cdn.1_Silent_p.G518G|HERC3_uc011cdo.1_Silent_p.G80G NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 636 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) ATCAAGCAGGGATGGTAAGAA 0.353 26 55 --- --- --- --- PASS SPATA4 132851 broad.mit.edu 37 4 177113858 177113858 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr4:177113858A>G uc003iuo.1 - 4 717 c.608T>C c.(607-609)ATG>ACG p.M203T NM_144644 NP_653245 Q8NEY3 SPAT4_HUMAN spermatogenesis associated 4 203 apoptosis|spermatogenesis 0 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096) ATTGGTCAGCATGTTGGGATT 0.368 14 50 --- --- --- --- PASS ADCY2 108 broad.mit.edu 37 5 7826899 7826899 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:7826899A>G uc003jdz.1 + 25 3258 c.3191A>G c.(3190-3192)AAC>AGC p.N1064S ADCY2_uc011cmo.1_Missense_Mutation_p.N884S|ADCY2_uc010itm.1_Missense_Mutation_p.N260S NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 1064 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGAATAATCAACGTGAAAGGA 0.517 127 140 --- --- --- --- PASS FAM105B 90268 broad.mit.edu 37 5 14678872 14678872 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:14678872G>T uc003jfk.2 + 3 464 c.312G>T c.(310-312)ACG>ACT p.T104T NM_138348 NP_612357 Q96BN8 F105B_HUMAN hypothetical protein LOC90268 104 ovary(2) 2 Lung NSC(4;0.00696) AGAAAGCAACGTGTATGAAAA 0.328 27 62 --- --- --- --- PASS GPBP1 65056 broad.mit.edu 37 5 56558513 56558513 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:56558513A>T uc003jrh.3 + 12 2630 c.1356A>T c.(1354-1356)AAA>AAT p.K452N GPBP1_uc010iwg.2_Missense_Mutation_p.K472N|GPBP1_uc003jri.3_Missense_Mutation_p.K281N|GPBP1_uc003jrj.3_Missense_Mutation_p.K444N|GPBP1_uc003jrk.3_Missense_Mutation_p.K459N|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) GCACTTTCAAACCCACAACTG 0.388 84 61 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112164609 112164609 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:112164609G>C uc010jby.2 + 14 2063 c.1683G>C c.(1681-1683)AAG>AAC p.K561N APC_uc011cvt.1_Missense_Mutation_p.K543N|APC_uc003kpz.3_Missense_Mutation_p.K561N|APC_uc003kpy.3_Missense_Mutation_p.K561N|APC_uc010jbz.2_Missense_Mutation_p.K278N|APC_uc010jca.2_Intron NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 561 ARM 3.|Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.T562fs*19(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATAGTAAAAAGACGTTGCGAG 0.299 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 11 102 --- --- --- --- PASS MCC 4163 broad.mit.edu 37 5 112720749 112720749 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:112720749G>A uc003kql.3 - 2 747 c.331C>T c.(331-333)CTT>TTT p.L111F MCC_uc003kqk.3_RNA NM_001085377 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 1 Error:Variant_position_missing_in_P23508_after_alignment negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTTGCAGAAAGATCTACTTCC 0.458 12 149 --- --- --- --- PASS PCDHA2 56146 broad.mit.edu 37 5 140175108 140175108 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:140175108G>A uc003lhd.2 + 1 665 c.559G>A c.(559-561)GAA>AAA p.E187K PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.E187K|PCDHA2_uc011czy.1_Missense_Mutation_p.E187K NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 187 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAAATGATGAACTAAGCGA 0.458 15 178 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209869 140209869 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:140209869G>T uc003lho.2 + 1 2220 c.2193G>T c.(2191-2193)GCG>GCT p.A731A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.A731A NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 731 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding p.A731A(1) haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGAGGGCGCGTGCACGGCGG 0.687 15 81 --- --- --- --- PASS PCDH12 51294 broad.mit.edu 37 5 141335730 141335730 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr5:141335730G>T uc003llx.2 - 1 2898 c.1687C>A c.(1687-1689)CCA>ACA p.P563T NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 563 Extracellular (Potential).|Cadherin 5. neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCACCTCTGGGGCATTATCA 0.587 38 44 --- --- --- --- PASS DUSP22 56940 broad.mit.edu 37 6 335143 335143 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:335143G>T uc003msx.2 + 4 607 c.168G>T c.(166-168)GCG>GCT p.A56A DUSP22_uc011dhn.1_Silent_p.A56A|DUSP22_uc003msy.1_Silent_p.A13A NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 56 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) TCCCAGCAGCGGATTCACCAT 0.318 5 130 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28294622 28294622 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:28294622C>T uc003nla.2 - 4 942 c.542G>A c.(541-543)AGT>AAT p.S181N ZNF323_uc003nld.2_Missense_Mutation_p.S181N|ZNF323_uc010jra.2_Missense_Mutation_p.S181N|ZNF323_uc003nlb.2_Missense_Mutation_p.S22N|ZNF323_uc010jrb.2_Missense_Mutation_p.S22N|ZNF323_uc003nlc.2_Missense_Mutation_p.S181N NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 181 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CTCAGGTATACTTTCACCATC 0.343 34 105 --- --- --- --- PASS NCR3 259197 broad.mit.edu 37 6 31556856 31556856 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:31556856G>A uc003nuv.2 - 4 858 c.594C>T c.(592-594)GTC>GTT p.V198V NCR3_uc003nuw.2_3'UTR NM_147130 NP_667341 O14931 NCTR3_HUMAN natural cytotoxicity triggering receptor 3 198 Cytoplasmic (Potential). cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity integral to plasma membrane receptor activity ovary(1)|skin(1) 2 AGCCTCCTGGGACTGGGGGAA 0.597 16 85 --- --- --- --- PASS TRERF1 55809 broad.mit.edu 37 6 42214277 42214277 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:42214277C>A uc003osd.2 - 14 3225 c.2662G>T c.(2662-2664)GAC>TAC p.D888Y TRERF1_uc011duq.1_Missense_Mutation_p.D805Y|TRERF1_uc003osb.2_Missense_Mutation_p.D644Y|TRERF1_uc003osc.2_Missense_Mutation_p.D644Y|TRERF1_uc003ose.2_Missense_Mutation_p.D908Y NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 888 SANT.|Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTCCACTTGTCCGAACCTACA 0.373 43 124 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46761185 46761185 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:46761185C>T uc010jzh.1 + 1 92 c.50C>T c.(49-51)GCC>GTC p.A17V MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.A17V|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 17 digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) TTGCTTTTTGCCCACATAGCA 0.348 7 816 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46803248 46803248 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:46803248C>T uc010jzh.1 + 13 2088 c.2046C>T c.(2044-2046)GAC>GAT p.D682D MEP1A_uc011dwg.1_Silent_p.D404D|MEP1A_uc011dwh.1_Silent_p.D710D|MEP1A_uc011dwi.1_Silent_p.D582D NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 682 EGF-like.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GCCAAAATGACGGCATCTGTG 0.607 236 31 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51774096 51774096 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:51774096C>A uc003pah.1 - 40 6943 c.6667G>T c.(6667-6669)GTG>TTG p.V2223L PKHD1_uc010jzn.1_Missense_Mutation_p.V248L|PKHD1_uc003pai.2_Missense_Mutation_p.V2223L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2223 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) ATAGCTCCCACCAGAGTGAGT 0.502 49 189 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51924782 51924782 + Nonsense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:51924782G>A uc003pah.1 - 15 1453 c.1177C>T c.(1177-1179)CAG>TAG p.Q393* PKHD1_uc003pai.2_Nonsense_Mutation_p.Q393* NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 393 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CTATCTGCCTGAATCCAGAAA 0.453 29 72 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55639028 55639028 + Missense_Mutation SNP G T T rs41271330 byFrequency TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:55639028G>T uc003pcq.2 - 4 1558 c.846C>A c.(844-846)AAC>AAA p.N282K BMP5_uc011dxf.1_Missense_Mutation_p.N282K NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 282 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CAGATTTTACGTTGATACTGC 0.423 42 146 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838774 100838774 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:100838774G>T uc003pqj.3 - 11 1971 c.1764C>A c.(1762-1764)CCC>CCA p.P588P SIM1_uc010kcu.2_Silent_p.P588P NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 588 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GTTGGTCTGAGGGGGCTTTCC 0.458 45 155 --- --- --- --- PASS MAN1A1 4121 broad.mit.edu 37 6 119525941 119525941 + Missense_Mutation SNP G C C rs140726044 TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:119525941G>C uc003pym.1 - 7 1541 c.1099C>G c.(1099-1101)CCC>GCC p.P367A NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 367 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GCAAAGATGGGGTTTCCTGAT 0.458 96 136 --- --- --- --- PASS TCF21 6943 broad.mit.edu 37 6 134210895 134210895 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:134210895G>T uc003qei.3 + 1 636 c.360G>T c.(358-360)ACG>ACT p.T120T uc003qeg.1_5'Flank|TCF21_uc003qej.2_Silent_p.T120T NM_003206 NP_003197 O43680 TCF21_HUMAN transcription factor 21 120 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783) AGCTGGACACGCTCAGGCTGG 0.617 130 182 --- --- --- --- PASS MAP3K5 4217 broad.mit.edu 37 6 136926462 136926462 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:136926462G>C uc003qhc.2 - 19 2925 c.2564C>G c.(2563-2565)CCA>CGA p.P855R MAP3K5_uc011edj.1_Missense_Mutation_p.P102R|MAP3K5_uc011edk.1_Missense_Mutation_p.P700R NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 855 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GTAGCCTCTTGGTCCTTTATC 0.403 65 69 --- --- --- --- PASS HIVEP2 3097 broad.mit.edu 37 6 143094104 143094104 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:143094104C>T uc003qjd.2 - 5 2515 c.1772G>A c.(1771-1773)AGA>AAA p.R591K NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 591 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGCTTGTCTTCTTAGCATGCG 0.527 4 265 --- --- --- --- PASS SYNJ2 8871 broad.mit.edu 37 6 158502168 158502168 + Missense_Mutation SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr6:158502168A>C uc003qqx.1 + 19 2670 c.2595A>C c.(2593-2595)GAA>GAC p.E865D SYNJ2_uc003qqw.1_Missense_Mutation_p.E865D|SYNJ2_uc003qqy.1_Missense_Mutation_p.E578D|SYNJ2_uc003qqz.1_Missense_Mutation_p.E482D|SYNJ2_uc003qra.1_Missense_Mutation_p.E208D NM_003898 NP_003889 O15056 SYNJ2_HUMAN synaptojanin 2 865 Catalytic (By similarity). nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) TGGAGGTGGAAGTTCAGGAAG 0.572 4 172 --- --- --- --- PASS TMEM195 392636 broad.mit.edu 37 7 15427122 15427122 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:15427122G>C uc003stb.1 - 9 1036 c.866C>G c.(865-867)CCT>CGT p.P289R NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 289 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 GAAGAATCCAGGTGTGGCCCA 0.358 6 213 --- --- --- --- PASS ABCB5 340273 broad.mit.edu 37 7 20698286 20698286 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:20698286C>G uc003suw.3 + 5 905 c.359C>G c.(358-360)GCT>GGT p.A120G ABCB5_uc010kuh.2_Missense_Mutation_p.A565G|ABCB5_uc003suv.3_Missense_Mutation_p.A120G|ABCB5_uc011jyi.1_Missense_Mutation_p.A120G NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 120 ABC transporter 1.|Extracellular (Potential). regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 GCTGTTCAAGCTGCACTGGAG 0.408 36 77 --- --- --- --- PASS WIPF3 644150 broad.mit.edu 37 7 29928944 29928944 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:29928944G>A uc003taj.1 + 6 1272 c.1272G>A c.(1270-1272)ACG>ACA p.T424T NM_001080529 NP_001073998 A6NGB9 WIPF3_HUMAN WAS/WASL interacting protein family, member 3 424 ovary(1) 1 CTAAATTCACGTTCCATTCTG 0.438 30 79 --- --- --- --- PASS TBX20 57057 broad.mit.edu 37 7 35289660 35289660 + Nonsense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:35289660C>A uc011kas.1 - 2 294 c.283G>T c.(283-285)GAG>TAG p.E95* NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 95 nucleus DNA binding central_nervous_system(1) 1 GCCATTTCCTCACTGGGGATG 0.582 31 74 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42005053 42005053 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:42005053C>A uc011kbh.1 - 15 3709 c.3618G>T c.(3616-3618)AGG>AGT p.R1206S GLI3_uc011kbg.1_Missense_Mutation_p.R1147S NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1206 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CAGGCCCGCTCCTCAAGGGGT 0.662 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 98 156 --- --- --- --- PASS SAMD9L 219285 broad.mit.edu 37 7 92761600 92761600 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:92761600C>G uc003umh.1 - 5 4901 c.3685G>C c.(3685-3687)GTG>CTG p.V1229L SAMD9L_uc003umj.1_Missense_Mutation_p.V1229L|SAMD9L_uc003umi.1_Missense_Mutation_p.V1229L|SAMD9L_uc010lfb.1_Missense_Mutation_p.V1229L|SAMD9L_uc003umk.1_Missense_Mutation_p.V1229L|SAMD9L_uc010lfc.1_Missense_Mutation_p.V1229L|SAMD9L_uc010lfd.1_Missense_Mutation_p.V1229L|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1229 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AAAAATTGCACCATATGTTTT 0.358 67 141 --- --- --- --- PASS ZNF655 79027 broad.mit.edu 37 7 99170395 99170395 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:99170395C>T uc003urh.2 + 3 1057 c.664C>T c.(664-666)CAT>TAT p.H222Y ZNF655_uc010lga.2_Missense_Mutation_p.H257Y|ZNF655_uc010lgc.2_Missense_Mutation_p.H257Y|ZNF655_uc003urj.2_Missense_Mutation_p.H222Y|ZNF655_uc003urk.2_Missense_Mutation_p.H59Y|ZNF655_uc010lgd.2_Missense_Mutation_p.H59Y NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 222 C2H2-type 1. G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GAAAATTTTCCATCAGAGCTC 0.393 9 36 --- --- --- --- PASS ZNF498 221785 broad.mit.edu 37 7 99221744 99221744 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:99221744C>T uc003url.1 + 7 1073 c.746C>T c.(745-747)CCA>CTA p.P249L ZNF498_uc003urm.1_Missense_Mutation_p.P85L|ZNF498_uc010lge.1_Missense_Mutation_p.P85L|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Intron|ZNF498_uc003uro.1_Missense_Mutation_p.P33L NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 249 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CATGTGACCCCAGCCCAGATA 0.537 158 276 --- --- --- --- PASS ACTL6B 51412 broad.mit.edu 37 7 100244174 100244174 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:100244174C>A uc003uvy.2 - 12 1220 c.1113G>T c.(1111-1113)CCG>CCT p.P371P ACTL6B_uc003uvx.1_Silent_p.P162P|ACTL6B_uc003uvz.2_RNA NM_016188 NP_057272 O94805 ACL6B_HUMAN actin-like 6B 371 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton ovary(1) 1 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGCTCCTACCGGTGGGGTCT 0.607 4 186 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100361796 100361796 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:100361796C>A uc003uwj.2 + 22 4409 c.4244C>A c.(4243-4245)CCC>CAC p.P1415H ZAN_uc003uwk.2_Missense_Mutation_p.P1415H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1415 Extracellular (Potential). 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) GCTGTGAAGCCCTGGAGGGAA 0.443 18 26 --- --- --- --- PASS LRWD1 222229 broad.mit.edu 37 7 102108810 102108810 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:102108810C>T uc003uzn.2 + 7 1043 c.905C>T c.(904-906)CCG>CTG p.P302L LRWD1_uc003uzo.2_Missense_Mutation_p.P150L NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain 302 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding skin(1) 1 GCCTTCGAGCCGGCCTGGGAG 0.652 4 23 --- --- --- --- PASS PIK3CG 5294 broad.mit.edu 37 7 106513331 106513331 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:106513331C>A uc003vdv.3 + 4 2320 c.2235C>A c.(2233-2235)GTC>GTA p.V745V PIK3CG_uc003vdu.2_Silent_p.V745V|PIK3CG_uc003vdw.2_Silent_p.V745V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 745 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 TACAAAAAGTCACCCTTGATA 0.458 67 102 --- --- --- --- PASS TAS2R38 5726 broad.mit.edu 37 7 141672606 141672606 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:141672606G>T uc003vwx.1 - 1 968 c.884C>A c.(883-885)GCC>GAC p.A295D NM_176817 NP_789787 P59533 T2R38_HUMAN taste receptor, type 2, member 38 295 Helical; Name=7; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity kidney(1)|skin(1) 2 Melanoma(164;0.0171) GATCAGGATGGCTGCATGCCC 0.542 67 123 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149431068 149431068 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr7:149431068G>C uc003wfz.2 + 18 3424 c.3025G>C c.(3025-3027)GTG>CTG p.V1009L KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Missense_Mutation_p.V616L NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 1009 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCTGGGAGGAGTGCAGAGGGC 0.642 19 20 --- --- --- --- PASS ARHGEF10 9639 broad.mit.edu 37 8 1882037 1882037 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:1882037A>T uc003wpr.2 + 26 3329 c.3151A>T c.(3151-3153)ATG>TTG p.M1051L ARHGEF10_uc003wps.2_Missense_Mutation_p.M1013L|ARHGEF10_uc010lre.2_Missense_Mutation_p.M702L NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 1076 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TCTACTCATGATGGAAGACAC 0.443 121 68 --- --- --- --- PASS DOCK5 80005 broad.mit.edu 37 8 25232132 25232132 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:25232132G>T uc003xeg.2 + 37 3915 c.3778G>T c.(3778-3780)GCT>TCT p.A1260S DOCK5_uc003xeh.1_Missense_Mutation_p.A974S|PPP2R2A_uc003xek.2_Missense_Mutation_p.A49S|DOCK5_uc003xei.2_Missense_Mutation_p.A830S|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1260 DHR-2. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CTACACAGAAGCTGCCTACAC 0.468 5 307 --- --- --- --- PASS ESCO2 157570 broad.mit.edu 37 8 27646495 27646495 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:27646495G>A uc003xgg.2 + 7 1346 c.1263G>A c.(1261-1263)GTG>GTA p.V421V ESCO2_uc010luy.1_RNA NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 421 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) TCAAATATGTGGTGAGCCAAA 0.398 SC_Phocomelia_syndrome 45 51 --- --- --- --- PASS FUT10 84750 broad.mit.edu 37 8 33230216 33230216 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:33230216C>A uc003xje.2 - 5 1675 c.1319G>T c.(1318-1320)CGA>CTA p.R440L FUT10_uc003xjc.2_Missense_Mutation_p.R447L|FUT10_uc003xjd.2_Missense_Mutation_p.R412L|FUT10_uc011lbi.1_Missense_Mutation_p.R490L NM_032664 NP_116053 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 440 Lumenal (Potential). embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) CCACATCTCTCGCAAAGAGCT 0.488 45 44 --- --- --- --- PASS SNAI2 6591 broad.mit.edu 37 8 49832654 49832654 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:49832654C>T uc003xqp.2 - 2 590 c.426G>A c.(424-426)GGG>GGA p.G142G NM_003068 NP_003059 O43623 SNAI2_HUMAN snail 2 142 C2H2-type 1. canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GTTTGGCCAGCCCAGAAAAAG 0.448 180 295 --- --- --- --- PASS ASPH 444 broad.mit.edu 37 8 62430122 62430122 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:62430122C>T uc003xuj.2 - 24 2360 c.2091G>A c.(2089-2091)AAG>AAA p.K697K ASPH_uc011leg.1_Silent_p.K668K NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 697 Lumenal (Potential). muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle ovary(3) 3 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) TGCAGCCTTCCTTGGGAATCA 0.527 88 139 --- --- --- --- PASS SGK3 23678 broad.mit.edu 37 8 67753278 67753278 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:67753278A>G uc003xwr.2 + 13 1210 c.911A>G c.(910-912)GAT>GGT p.D304G SGK3_uc003xwp.2_Missense_Mutation_p.D298G|SGK3_uc003xwt.2_Missense_Mutation_p.D304G|SGK3_uc003xwu.2_Missense_Mutation_p.D304G NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform 304 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTCTTAACAGATTTTGGGCTT 0.303 13 80 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87229738 87229738 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:87229738C>A uc003ydq.1 - 3 1238 c.1140G>T c.(1138-1140)AGG>AGT p.R380S SLC7A13_uc003ydr.1_Missense_Mutation_p.R371S NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 380 Cytoplasmic (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 GGTATCTCCGCCTTAGTATTC 0.294 6 13 --- --- --- --- PASS PTDSS1 9791 broad.mit.edu 37 8 97318741 97318741 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:97318741G>T uc003yht.1 + 8 1066 c.964G>T c.(964-966)GGT>TGT p.G322C PTDSS1_uc003yhu.1_Missense_Mutation_p.G176C NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 322 Helical; (Potential). phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) ATTAAGTTGGGGTAGAATTCT 0.418 13 412 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113301698 113301698 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:113301698G>A uc003ynu.2 - 57 9203 c.9044C>T c.(9043-9045)TCT>TTT p.S3015F CSMD3_uc003yns.2_Missense_Mutation_p.S2217F|CSMD3_uc003ynt.2_Missense_Mutation_p.S2975F|CSMD3_uc011lhx.1_Missense_Mutation_p.S2846F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3015 Sushi 21.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTGAACAGTAGACCCAAAAGT 0.423 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 52 68 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964048 123964048 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:123964048C>A uc003ypk.1 + 3 865 c.298C>A c.(298-300)CAG>AAG p.Q100K NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 100 C2H2-type 1. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) TGTCGACATGCAGCATCCCAA 0.498 5 223 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123964939 123964939 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:123964939G>A uc003ypk.1 + 3 1756 c.1189G>A c.(1189-1191)GTG>ATG p.V397M NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 397 Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CACACTTGCCGTGGCAGGAGT 0.632 30 151 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 132051973 132051973 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:132051973G>A uc003ytd.3 - 1 863 c.607C>T c.(607-609)CTG>TTG p.L203L ADCY8_uc010mds.2_Silent_p.L203L NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 203 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCCGAGGCCAGGCTCAAGTGT 0.587 HNSCC(32;0.087) 69 126 --- --- --- --- PASS ZFAT 57623 broad.mit.edu 37 8 135613997 135613997 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:135613997C>A uc003yup.2 - 6 2140 c.1965G>T c.(1963-1965)GGG>GGT p.G655G ZFAT_uc003yun.2_Silent_p.G643G|ZFAT_uc003yuo.2_Silent_p.G643G|ZFAT_uc010meh.2_Silent_p.G643G|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Silent_p.G643G|ZFAT_uc010mej.2_Silent_p.G593G|ZFAT_uc003yur.2_Silent_p.G643G NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 655 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TCTGCCCTTCCCCTAGGGGGC 0.597 74 137 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139151265 139151265 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr8:139151265G>C uc003yuy.2 - 18 4036 c.3865C>G c.(3865-3867)CGC>GGC p.R1289G FAM135B_uc003yux.2_Missense_Mutation_p.R1190G|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1289 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) AAACATTTGCGCAAATCAGCA 0.423 HNSCC(54;0.14) 54 147 --- --- --- --- PASS IFNA16 3449 broad.mit.edu 37 9 21217288 21217288 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:21217288G>C uc003zor.1 - 1 23 c.17C>G c.(16-18)TCT>TGT p.S6C IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN interferon, alpha 16 precursor 6 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding skin(1) 1 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CATCAGTAAAGAAAAGGACAG 0.488 32 78 --- --- --- --- PASS KIAA1539 80256 broad.mit.edu 37 9 35107389 35107389 + Nonsense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:35107389C>A uc003zwl.2 - 3 1208 c.883G>T c.(883-885)GAG>TAG p.E295* KIAA1539_uc003zwm.2_Nonsense_Mutation_p.E295*|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Nonsense_Mutation_p.E295*|KIAA1539_uc003zwp.1_Nonsense_Mutation_p.E295*|KIAA1539_uc010mkk.1_RNA NM_025182 NP_079458 Q7L5A3 K1539_HUMAN hypothetical protein LOC80256 295 nucleus ovary(2) 2 all_epithelial(49;0.217) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAAACAGGCTCTTTGGGCCCA 0.413 8 613 --- --- --- --- PASS ALDH1B1 219 broad.mit.edu 37 9 38396346 38396346 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:38396346G>A uc004aay.2 + 2 713 c.601G>A c.(601-603)GCC>ACC p.A201T NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 201 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CCCGGCACTCGCCACAGGCAA 0.597 13 443 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90501261 90501261 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:90501261C>G uc004app.3 + 4 1894 c.1859C>G c.(1858-1860)ACC>AGC p.T620S C9orf79_uc004apo.1_Missense_Mutation_p.T432S NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 620 integral to membrane ovary(3) 3 GGGGTTGTCACCAGCCCTGAG 0.642 5 193 --- --- --- --- PASS ALG2 85365 broad.mit.edu 37 9 101984110 101984110 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:101984110C>A uc004azf.2 - 1 137 c.67G>T c.(67-69)GAC>TAC p.D23Y ALG2_uc004azg.2_5'UTR|SEC61B_uc004azh.2_5'Flank NM_033087 NP_149078 Q9H553 ALG2_HUMAN alpha-1,3-mannosyltransferase ALG2 23 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.0559) ACGCCCAGGTCTGGGTGGAGG 0.711 6 31 --- --- --- --- PASS KIAA0368 23392 broad.mit.edu 37 9 114246723 114246723 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:114246723G>A uc004bfe.1 - 2 190 c.190C>T c.(190-192)CGG>TGG p.R64W KIAA0368_uc010muc.1_5'Flank NM_001080398 NP_001073867 KIAA0368 protein 0 GCCTCCCGCCGAACTTCTCGG 0.692 10 13 --- --- --- --- PASS CAMSAP1 157922 broad.mit.edu 37 9 138715863 138715863 + Missense_Mutation SNP T A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr9:138715863T>A uc004cgr.3 - 10 1333 c.1333A>T c.(1333-1335)AAT>TAT p.N445Y CAMSAP1_uc004cgq.3_Missense_Mutation_p.N335Y|CAMSAP1_uc010nbg.2_Missense_Mutation_p.N167Y NM_015447 NP_056262 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 445 cytoplasm|microtubule ovary(1)|central_nervous_system(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GTCAAAGAATTCGATCGATGT 0.418 3 3 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17157571 17157571 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr10:17157571C>G uc001ioo.2 - 7 671 c.619G>C c.(619-621)GGA>CGA p.G207R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 207 EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CACTGGGGTCCGTACGTCTCA 0.522 80 71 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 17157572 17157572 + Nonsense_Mutation SNP G T T rs41289313 byFrequency TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr10:17157572G>T uc001ioo.2 - 7 670 c.618C>A c.(616-618)TAC>TAA p.Y206* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 206 EGF-like 2; calcium-binding (Potential). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTGGGGTCCGTACGTCTCAG 0.522 80 71 --- --- --- --- PASS LYZL1 84569 broad.mit.edu 37 10 29578106 29578106 + Silent SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr10:29578106A>T uc001iul.2 + 1 117 c.60A>T c.(58-60)GCA>GCT p.A20A NM_032517 NP_115906 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 Error:Variant_position_missing_in_Q6UWQ5_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Breast(68;0.203) TTTCTTCCGCAGACTCAACTG 0.522 21 16 --- --- --- --- PASS SGPL1 8879 broad.mit.edu 37 10 72619134 72619134 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr10:72619134G>C uc001jrm.2 + 7 715 c.493G>C c.(493-495)GGA>CGA p.G165R NM_003901 NP_003892 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 165 Cytoplasmic (Potential). apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity 0 Pyridoxal Phosphate(DB00114) GCAGGCTTATGGAGATTTTGC 0.408 30 17 --- --- --- --- PASS ARL3 403 broad.mit.edu 37 10 104445666 104445666 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr10:104445666G>A uc001kwa.2 - 5 566 c.408C>T c.(406-408)GCC>GCT p.A136A NM_004311 NP_004302 P36405 ARL3_HUMAN ADP-ribosylation factor-like 3 136 cell cycle|cytokinesis|small GTPase mediated signal transduction centrosome|cytoplasmic microtubule|Golgi membrane|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule GDP binding|GTP binding|metal ion binding|microtubule binding 0 Colorectal(252;0.122) Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22) CAATTTCAGAGGCAGGGGCTG 0.502 6 163 --- --- --- --- PASS OR51F2 119694 broad.mit.edu 37 11 4842815 4842815 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:4842815G>C uc010qyn.1 + 1 200 c.200G>C c.(199-201)CGG>CCG p.R67P NM_001004753 NP_001004753 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, 67 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCTGTGAACGGAGCCTCCAT 0.478 10 402 --- --- --- --- PASS OR51I2 390064 broad.mit.edu 37 11 5475618 5475618 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:5475618C>A uc010qzf.1 + 1 900 c.900C>A c.(898-900)CGC>CGA p.R300R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004754 NP_001004754 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAAATCCGCCGAGCCATTT 0.438 84 81 --- --- --- --- PASS ST5 6764 broad.mit.edu 37 11 8751700 8751700 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:8751700G>A uc001mgt.2 - 3 1323 c.1137C>T c.(1135-1137)TCC>TCT p.S379S ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Silent_p.S379S|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Silent_p.S379S NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 379 Pro-rich. positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CGGGATCGAGGGAACTCTTCG 0.602 12 203 --- --- --- --- PASS OR4C12 283093 broad.mit.edu 37 11 50003668 50003668 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:50003668T>C uc010ria.1 - 1 370 c.370A>G c.(370-372)ATC>GTC p.I124V NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 124 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGTTTGCAGATGGCCACATAG 0.493 76 299 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55594695 55594695 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:55594695A>T uc001nhy.1 + 1 1 c.1A>T c.(1-3)ATG>TTG p.M1L NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 1 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AATTGGAGACATGGGCAAGGA 0.393 HNSCC(27;0.073) 11 371 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904489 55904489 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:55904489T>C uc010riz.1 - 1 706 c.706A>G c.(706-708)AAA>GAA p.K236E NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) GAAAAGGCTTTTTTCCTTCCT 0.393 11 70 --- --- --- --- PASS OR5M10 390167 broad.mit.edu 37 11 56344385 56344385 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:56344385G>A uc001niz.1 - 1 813 c.813C>T c.(811-813)TCC>TCT p.S271S NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 271 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAATTATTTTGGACTCCTCTA 0.413 7 423 --- --- --- --- PASS OR5M1 390168 broad.mit.edu 37 11 56380583 56380583 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:56380583G>A uc001nja.1 - 1 396 c.396C>T c.(394-396)TAC>TAT p.Y132Y NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, 132 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TCCTGGAACTGTAATGCAAAG 0.458 25 127 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64434732 64434732 + Silent SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:64434732A>G uc001oar.2 - 10 2227 c.1788T>C c.(1786-1788)GAT>GAC p.D596D NRXN2_uc001oas.2_Silent_p.D565D|NRXN2_uc001oaq.2_Silent_p.D263D NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CTTTTCGCCCATCCCTCTGGA 0.592 30 129 --- --- --- --- PASS MRGPRD 116512 broad.mit.edu 37 11 68748336 68748336 + Silent SNP G A A rs148272462 TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:68748336G>A uc010rqf.1 - 1 120 c.120C>T c.(118-120)TGC>TGT p.C40C NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 40 Helical; Name=1; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(1) 1 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGCCATCCCGCACAGGCAGG 0.602 4 138 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71726893 71726893 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:71726893C>A uc001orl.1 - 15 1828 c.1656G>T c.(1654-1656)CAG>CAT p.Q552H NUMA1_uc009ysw.1_Missense_Mutation_p.Q115H|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.Q552H|NUMA1_uc001orn.2_Missense_Mutation_p.Q115H|NUMA1_uc009ysx.1_Missense_Mutation_p.Q552H|NUMA1_uc001oro.1_Missense_Mutation_p.Q552H NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 552 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 GCTGCTCCACCTGGTGGCGGA 0.602 T RARA APL OREG0021187 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 132 585 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73849786 73849786 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:73849786G>C uc001ouu.2 - 5 1161 c.934C>G c.(934-936)CCT>GCT p.P312A C2CD3_uc001ouv.2_Missense_Mutation_p.P312A NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 312 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) TCCTTGGTAGGGAGGTTGTTT 0.423 82 79 --- --- --- --- PASS GDPD4 220032 broad.mit.edu 37 11 76980007 76980007 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:76980007G>T uc001oyf.2 - 8 837 c.586C>A c.(586-588)CCC>ACC p.P196T NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 196 Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 GTTGGCTTGGGCCCCAAATTC 0.458 225 185 --- --- --- --- PASS SLC36A4 120103 broad.mit.edu 37 11 92881946 92881946 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:92881946G>C uc001pdn.2 - 11 1369 c.1272C>G c.(1270-1272)AGC>AGG p.S424R uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Missense_Mutation_p.S289R NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 424 Helical; (Potential). L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCAATGTGCTGCTGCTCACAG 0.353 46 41 --- --- --- --- PASS AMOTL1 154810 broad.mit.edu 37 11 94602404 94602404 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:94602404C>T uc001pfb.2 + 12 2700 c.2530C>T c.(2530-2532)CCA>TCA p.P844S AMOTL1_uc001pfc.2_Missense_Mutation_p.P794S NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 844 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) TGCCTCTGCCCCACTGCTGCC 0.532 21 18 --- --- --- --- PASS ATM 472 broad.mit.edu 37 11 108119810 108119810 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:108119810G>A uc001pkb.1 + 9 1601 c.1216G>A c.(1216-1218)GAT>AAT p.D406N ATM_uc009yxr.1_Missense_Mutation_p.D406N NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 406 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTCACAGAATGATTTTGATCT 0.343 D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 18 88 --- --- --- --- PASS CLDN25 644672 broad.mit.edu 37 11 113650575 113650575 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:113650575G>T uc009yyw.1 + 1 58 c.58G>T c.(58-60)GGC>TGC p.G20C NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 20 Helical; (Potential). integral to membrane|tight junction structural molecule activity 0 CTCCCTCCTTGGCTGGGTCTG 0.547 61 247 --- --- --- --- PASS NLRX1 79671 broad.mit.edu 37 11 119054075 119054075 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:119054075G>A uc001pvu.2 + 10 3070 c.2855G>A c.(2854-2856)CGC>CAC p.R952H NLRX1_uc001pvv.2_Intron|NLRX1_uc001pvw.2_Missense_Mutation_p.R952H|NLRX1_uc001pvx.2_Missense_Mutation_p.R952H|PDZD3_uc001pvy.2_5'Flank|PDZD3_uc001pvz.2_5'Flank|PDZD3_uc010rzd.1_5'Flank|PDZD3_uc001pwa.2_5'Flank|PDZD3_uc001pwb.2_5'Flank NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 952 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AATCCTTGGCGCAAGGCCCAG 0.637 6 145 --- --- --- --- PASS CHEK1 1111 broad.mit.edu 37 11 125513737 125513737 + Nonsense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr11:125513737G>T uc009zbo.2 + 9 1757 c.865G>T c.(865-867)GGA>TGA p.G289* CHEK1_uc010sbh.1_Nonsense_Mutation_p.G305*|CHEK1_uc010sbi.1_Nonsense_Mutation_p.G289*|CHEK1_uc001qcf.3_Nonsense_Mutation_p.G289*|CHEK1_uc009zbp.2_Nonsense_Mutation_p.G289*|CHEK1_uc001qcg.3_Nonsense_Mutation_p.G289*|CHEK1_uc009zbq.2_Nonsense_Mutation_p.G289*|CHEK1_uc001qci.1_RNA|CHEK1_uc001qcj.2_5'Flank NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 289 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GTCTCCCAGTGGATTTTCTAA 0.388 Other_conserved_DNA_damage_response_genes 22 39 --- --- --- --- PASS IQSEC3 440073 broad.mit.edu 37 12 280292 280292 + Missense_Mutation SNP G A A rs113137859 TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:280292G>A uc001qhw.1 + 10 2176 c.2170G>A c.(2170-2172)GCG>ACG p.A724T IQSEC3_uc001qhu.1_Missense_Mutation_p.A724T NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1027 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) AAGGGAAGCCGCGCTCAGGGA 0.622 9 183 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2224643 2224643 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:2224643C>A uc009zdu.1 + 2 616 c.303C>A c.(301-303)CCC>CCA p.P101P CACNA1C_uc009zdv.1_Silent_p.P101P|CACNA1C_uc001qkb.2_Silent_p.P101P|CACNA1C_uc001qkc.2_Silent_p.P101P|CACNA1C_uc001qke.2_Silent_p.P101P|CACNA1C_uc001qkf.2_Silent_p.P101P|CACNA1C_uc001qjz.2_Silent_p.P101P|CACNA1C_uc001qkd.2_Silent_p.P101P|CACNA1C_uc001qkg.2_Silent_p.P101P|CACNA1C_uc009zdw.1_Silent_p.P101P|CACNA1C_uc001qkh.2_Silent_p.P101P|CACNA1C_uc001qkl.2_Silent_p.P101P|CACNA1C_uc001qkn.2_Silent_p.P101P|CACNA1C_uc001qko.2_Silent_p.P101P|CACNA1C_uc001qkp.2_Silent_p.P101P|CACNA1C_uc001qkr.2_Silent_p.P101P|CACNA1C_uc001qku.2_Silent_p.P101P|CACNA1C_uc001qkq.2_Silent_p.P101P|CACNA1C_uc001qks.2_Silent_p.P101P|CACNA1C_uc001qkt.2_Silent_p.P101P NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 101 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.A101E(1) ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CACGCCCGCCCCGAGCCCTGC 0.617 55 17 --- --- --- --- PASS EFCAB4B 84766 broad.mit.edu 37 12 3763445 3763445 + Nonsense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:3763445G>A uc001qmj.2 - 10 1551 c.979C>T c.(979-981)CAG>TAG p.Q327* EFCAB4B_uc010sen.1_Nonsense_Mutation_p.Q327*|EFCAB4B_uc010seo.1_Nonsense_Mutation_p.Q327*|EFCAB4B_uc001qmi.1_RNA NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 327 Potential. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TGAGCATCCTGGAGCTCCCAG 0.562 9 158 --- --- --- --- PASS GPRC5A 9052 broad.mit.edu 37 12 13061273 13061273 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:13061273C>T uc001rba.2 + 2 740 c.90C>T c.(88-90)GTC>GTT p.V30V GPRC5A_uc001raz.2_Silent_p.V30V NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 30 Extracellular (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) GGGGCATCGTCCTAGAAACGG 0.552 144 62 --- --- --- --- PASS KIAA0528 9847 broad.mit.edu 37 12 22676469 22676469 + Nonsense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:22676469C>A uc001rfq.2 - 7 919 c.691G>T c.(691-693)GAG>TAG p.E231* KIAA0528_uc010sir.1_Nonsense_Mutation_p.E33*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.E231*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.E231*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.E231*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.E231*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.E231* NM_014802 NP_055617 Q86YS7 K0528_HUMAN hypothetical protein LOC9847 231 protein binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 AACCCAGACTCGCCCTCCAGA 0.473 86 55 --- --- --- --- PASS COL2A1 1280 broad.mit.edu 37 12 48390401 48390401 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:48390401G>A uc001rqu.2 - 8 720 c.539C>T c.(538-540)GCT>GTT p.A180V COL2A1_uc001rqv.2_Missense_Mutation_p.A111V NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 180 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CATCTGGGCAGCAAAGTTCTG 0.468 6 806 --- --- --- --- PASS NUP107 57122 broad.mit.edu 37 12 69126449 69126449 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:69126449G>T uc001suf.2 + 23 2146 c.2031G>T c.(2029-2031)TGG>TGT p.W677C NUP107_uc001sug.2_Missense_Mutation_p.W436C|NUP107_uc010stj.1_Missense_Mutation_p.W648C NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 677 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding skin(1) 1 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TAATTGACTGGTTGGTATTTG 0.289 43 58 --- --- --- --- PASS CNOT2 4848 broad.mit.edu 37 12 70731262 70731262 + Missense_Mutation SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:70731262A>C uc001svv.2 + 9 1448 c.869A>C c.(868-870)GAT>GCT p.D290A CNOT2_uc009zro.2_Missense_Mutation_p.D290A|CNOT2_uc009zrp.2_Missense_Mutation_p.D270A|CNOT2_uc009zrq.2_Missense_Mutation_p.D290A|CNOT2_uc001svw.1_Missense_Mutation_p.D30A NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 290 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) AGCTATAAAGATCCAACATCA 0.353 12 57 --- --- --- --- PASS ACSS3 79611 broad.mit.edu 37 12 81545793 81545793 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:81545793C>T uc001szl.1 + 7 1107 c.1016C>T c.(1015-1017)GCT>GTT p.A339V ACSS3_uc001szm.1_Missense_Mutation_p.A338V|ACSS3_uc001szn.1_Missense_Mutation_p.A21V NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 339 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 TGGTGGGCAGCTTCTGACTTA 0.333 28 33 --- --- --- --- PASS HSPB8 26353 broad.mit.edu 37 12 119617322 119617322 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:119617322G>T uc001txb.2 + 1 728 c.205G>T c.(205-207)GTG>TTG p.V69L HSPB8_uc001txc.2_Missense_Mutation_p.V69L NM_014365 NP_055180 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 69 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|skin(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTCGGGCATGGTGCCCCGGGG 0.682 78 75 --- --- --- --- PASS ANAPC5 51433 broad.mit.edu 37 12 121773465 121773465 + Missense_Mutation SNP A G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:121773465A>G uc001uag.2 - 7 943 c.821T>C c.(820-822)CTC>CCC p.L274P ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_5'UTR|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Missense_Mutation_p.L175P|ANAPC5_uc001uai.1_5'UTR NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 274 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATAATGGAGGAGACTGTGTGT 0.413 5 211 --- --- --- --- PASS LRRC43 254050 broad.mit.edu 37 12 122685401 122685401 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:122685401G>A uc009zxm.2 + 10 1754 c.1729G>A c.(1729-1731)GCC>ACC p.A577T LRRC43_uc001ubw.3_Missense_Mutation_p.A392T|LRRC43_uc009zxn.2_Missense_Mutation_p.A338T|B3GNT4_uc001ubx.2_5'Flank|B3GNT4_uc001uby.2_5'Flank NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 577 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) GCCCCTGCTCGCCGGGGAGCC 0.672 7 125 --- --- --- --- PASS FAM123A 219287 broad.mit.edu 37 13 25745389 25745389 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr13:25745389C>A uc001uqb.2 - 1 469 c.369G>T c.(367-369)CCG>CCT p.P123P FAM123A_uc001uqa.2_Silent_p.P123P|FAM123A_uc001uqc.2_Silent_p.P123P NM_152704 NP_689917 Q8N7J2 F123A_HUMAN hypothetical protein LOC219287 isoform 1 123 Gly-rich. ovary(2)|large_intestine(1)|lung(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) ccccgccgcGCGGCTCCTCCT 0.602 9 3 --- --- --- --- PASS KL 9365 broad.mit.edu 37 13 33635674 33635674 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr13:33635674G>C uc001uus.2 + 4 2466 c.2458G>C c.(2458-2460)GAT>CAT p.D820H KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN klotho precursor 820 Glycosyl hydrolase-1 2.|Extracellular (Potential). aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding large_intestine(1)|ovary(1)|skin(1) 3 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) AGAAAAAGAAGATCCAATAAA 0.438 52 54 --- --- --- --- PASS HTR2A 3356 broad.mit.edu 37 13 47409423 47409423 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr13:47409423C>T uc001vbq.2 - 3 1099 c.965G>A c.(964-966)TGC>TAC p.C322Y HTR2A_uc001vbr.2_Missense_Mutation_p.C222Y|HTR2A_uc010acr.2_Missense_Mutation_p.C322Y NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 322 Cytoplasmic (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CAGCACCTTGCATGCCTTTTG 0.512 69 46 --- --- --- --- PASS CDADC1 81602 broad.mit.edu 37 13 49852631 49852631 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr13:49852631C>A uc001vcu.2 + 7 1272 c.1196C>A c.(1195-1197)GCG>GAG p.A399E CDADC1_uc010tgk.1_Missense_Mutation_p.A201E|CDADC1_uc001vcv.2_RNA NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 399 hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) ATCATACATGCGGAACAGAAT 0.353 137 119 --- --- --- --- PASS NALCN 259232 broad.mit.edu 37 13 101756667 101756667 + Silent SNP T A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr13:101756667T>A uc001vox.1 - 25 3057 c.2868A>T c.(2866-2868)GTA>GTT p.V956V NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 956 Helical; Name=S3 of repeat III; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATATGTCCATTACTCCACCGA 0.353 43 48 --- --- --- --- PASS OR11H6 122748 broad.mit.edu 37 14 20692373 20692373 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:20692373G>A uc010tlc.1 + 1 505 c.505G>A c.(505-507)GGC>AGC p.G169S NM_001004480 NP_001004480 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, 169 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) ATGCTGGGTAGGCGGATTTCT 0.493 166 324 --- --- --- --- PASS BAZ1A 11177 broad.mit.edu 37 14 35280155 35280155 + Silent SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:35280155T>C uc001wsk.2 - 5 1192 c.624A>G c.(622-624)AAA>AAG p.K208K BAZ1A_uc001wsl.2_Silent_p.K208K|BAZ1A_uc001wsm.1_Silent_p.K208K NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 208 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTTGTGTTGCTTTAACAATAG 0.308 43 18 --- --- --- --- PASS SEC23A 10484 broad.mit.edu 37 14 39560828 39560828 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:39560828C>G uc001wup.1 - 5 679 c.456G>C c.(454-456)CAG>CAC p.Q152H SEC23A_uc010tqa.1_Missense_Mutation_p.Q14H|SEC23A_uc010tqb.1_Missense_Mutation_p.Q123H|SEC23A_uc010tqc.1_Missense_Mutation_p.Q14H NM_006364 NP_006355 Q15436 SC23A_HUMAN SEC23-related protein A 152 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TTAATGACATCTGCATGGATT 0.383 4 170 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64687205 64687205 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:64687205C>A uc001xgm.2 + 110 20072 c.19842C>A c.(19840-19842)AAC>AAA p.N6614K SYNE2_uc001xgl.2_Missense_Mutation_p.N6637K|SYNE2_uc010apy.2_Missense_Mutation_p.N2999K|SYNE2_uc001xgn.2_Missense_Mutation_p.N1576K|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.N584K|SYNE2_uc001xgq.2_Missense_Mutation_p.N979K|SYNE2_uc001xgr.2_Missense_Mutation_p.N397K|SYNE2_uc010tsi.1_Missense_Mutation_p.N271K|SYNE2_uc001xgs.2_Missense_Mutation_p.N271K|SYNE2_uc001xgt.2_Missense_Mutation_p.N145K NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6614 Cytoplasmic (Potential).|Spectrin 9. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTCTGTCAACGTGAGCAGCA 0.522 42 39 --- --- --- --- PASS ITPK1 3705 broad.mit.edu 37 14 93424701 93424701 + Missense_Mutation SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:93424701A>C uc001ybg.2 - 8 804 c.515T>G c.(514-516)GTG>GGG p.V172G ITPK1_uc001ybe.2_Missense_Mutation_p.V172G|ITPK1_uc001ybf.2_Missense_Mutation_p.V53G|ITPK1_uc001ybh.2_Missense_Mutation_p.V172G NM_014216 NP_055031 Q13572 ITPK1_HUMAN inositol 1,3,4-triphosphate 5/6 kinase isoform 172 ATP-grasp. blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding 0 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) CTGGTTGAACACGATAGCCAT 0.562 78 41 --- --- --- --- PASS SERPINA5 5104 broad.mit.edu 37 14 95054287 95054287 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:95054287C>A uc001ydm.2 + 3 798 c.588C>A c.(586-588)GTC>GTA p.V196V SERPINA5_uc010ave.2_Silent_p.V196V|SERPINA5_uc001ydn.1_Silent_p.V196V NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 196 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GCAATGCGGTCGTGATCATGG 0.453 5 399 --- --- --- --- PASS MIR380 494329 broad.mit.edu 37 14 101491380 101491380 + RNA SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr14:101491380T>C hsa-mir-380|MI0000788 + c.27T>C uc010awb.1_RNA|MIR1197_hsa-mir-1197|MI0006656_5'Flank|uc001yjy.1_5'Flank|MIR323_hsa-mir-323|MI0000807_5'Flank|MIR758_hsa-mir-758|MI0003757_5'Flank|MIR329-1_hsa-mir-329-1|MI0001725_5'Flank|MIR329-2_hsa-mir-329-2|MI0001726_5'Flank 0 GAACATGCGCTATCTCTGTGT 0.493 16 4 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34151810 34151810 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr15:34151810C>A uc001zhi.2 + 100 14247 c.14177C>A c.(14176-14178)GCA>GAA p.A4726E RYR3_uc010bar.2_Missense_Mutation_p.A4721E NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4726 Helical; Name=M9; (Potential). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAGTGAGAGCAGGAGGTGGC 0.413 7 92 --- --- --- --- PASS LTK 4058 broad.mit.edu 37 15 41800368 41800368 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr15:41800368T>C uc001zoa.3 - 9 1326 c.1148A>G c.(1147-1149)CAC>CGC p.H383R LTK_uc001zob.3_Missense_Mutation_p.H322R|LTK_uc010ucx.1_Missense_Mutation_p.H322R|LTK_uc010bcg.2_Missense_Mutation_p.H65R NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 383 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CAAAGGGCAGTGACTGCAGTT 0.532 TSP Lung(18;0.14) 76 89 --- --- --- --- PASS C15orf21 283651 broad.mit.edu 37 15 45848083 45848083 + RNA SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr15:45848083C>A uc010beg.1 + 6 c.1078C>A C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA Homo sapiens cDNA FLJ39426 fis, clone PROST2000505. 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;3.03e-17)|GBM - Glioblastoma multiforme(94;7.36e-07) AATGGAGATGCCAAAACAGAC 0.453 T ETV1 prostate 17 116 --- --- --- --- PASS LIPC 3990 broad.mit.edu 37 15 58853108 58853108 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr15:58853108C>A uc010bga.1 + 9 1705 c.1097C>A c.(1096-1098)ACA>AAA p.T366K LIPC_uc010bfz.1_Missense_Mutation_p.T366K|LIPC_uc002afa.1_Missense_Mutation_p.T366K|LIPC_uc010bgb.1_Missense_Mutation_p.T264K|LIPC_uc010ugy.1_Missense_Mutation_p.T305K NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 366 PLAT. cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) CAAACTGAGACACCAATACAA 0.323 12 29 --- --- --- --- PASS IGDCC3 9543 broad.mit.edu 37 15 65625636 65625636 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr15:65625636G>A uc002aos.2 - 6 1193 c.941C>T c.(940-942)ACC>ATC p.T314I NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 314 Extracellular (Potential).|Ig-like C2-type 3. ovary(3) 3 CCTCACCCGGGTGCCAGGTCT 0.632 52 50 --- --- --- --- PASS ZNF592 9640 broad.mit.edu 37 15 85327839 85327839 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr15:85327839G>A uc002bld.2 + 4 2269 c.1933G>A c.(1933-1935)GTC>ATC p.V645I ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 645 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAAGGGGCTCGTCATGCAGTG 0.602 5 92 --- --- --- --- PASS TELO2 9894 broad.mit.edu 37 16 1545579 1545579 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:1545579G>A uc002cly.2 + 3 859 c.568G>A c.(568-570)GAG>AAG p.E190K TELO2_uc010uvg.1_Missense_Mutation_p.E190K NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 190 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) CCTGCTCGGCGAGGAGGTCGT 0.667 4 176 --- --- --- --- PASS GRIN2A 2903 broad.mit.edu 37 16 10031933 10031933 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:10031933C>A uc002czo.3 - 3 1438 c.890G>T c.(889-891)GGC>GTC p.G297V GRIN2A_uc010uym.1_Missense_Mutation_p.G297V|GRIN2A_uc010uyn.1_Missense_Mutation_p.G140V|GRIN2A_uc002czr.3_Missense_Mutation_p.G297V NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 297 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTTAGGATGCCAATGCCGTC 0.572 78 53 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20329723 20329723 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:20329723C>T uc002dgv.2 - 8 1129 c.1046G>A c.(1045-1047)GGA>GAA p.G349E GP2_uc002dgw.2_Missense_Mutation_p.G346E|GP2_uc002dgx.2_Missense_Mutation_p.G202E|GP2_uc002dgy.2_Missense_Mutation_p.G199E NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 349 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 AATGAACTCTCCATTCCCGTC 0.473 175 162 --- --- --- --- PASS ACSM2B 348158 broad.mit.edu 37 16 20570631 20570631 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:20570631C>T uc002dhj.3 - 4 526 c.316G>A c.(316-318)GGG>AGG p.G106R ACSM2B_uc002dhk.3_Missense_Mutation_p.G106R|ACSM2B_uc010bwf.1_Missense_Mutation_p.G106R NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 106 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 ACACGATCCCCACGCTGCAGG 0.562 4 86 --- --- --- --- PASS SLC5A11 115584 broad.mit.edu 37 16 24918057 24918057 + Silent SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:24918057C>A uc002dmu.2 + 11 1318 c.1086C>A c.(1084-1086)CCC>CCA p.P362P SLC5A11_uc002dms.2_Silent_p.P298P|SLC5A11_uc010vcd.1_Silent_p.P327P|SLC5A11_uc002dmt.2_Missense_Mutation_p.Q230K|SLC5A11_uc010vce.1_Silent_p.P292P|SLC5A11_uc010bxt.2_Silent_p.P298P|SLC5A11_uc002dmv.2_5'Flank NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 362 Extracellular (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) TCGCGTATCCCAAACTCGTGC 0.557 OREG0023688 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 113 --- --- --- --- PASS FUK 197258 broad.mit.edu 37 16 70504960 70504960 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:70504960G>A uc002eyy.2 + 12 1213 c.1155G>A c.(1153-1155)CAG>CAA p.Q385Q FUK_uc010cft.2_Silent_p.Q417Q|FUK_uc002eyz.2_5'UTR NM_145059 NP_659496 Q8N0W3 FUK_HUMAN fucokinase 385 cytoplasm ATP binding|fucokinase activity ovary(1) 1 Ovarian(137;0.0694) GCGTCCTGCAGCACTGCCACC 0.687 3 17 --- --- --- --- PASS GLG1 2734 broad.mit.edu 37 16 74487200 74487200 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:74487200G>A uc002fcy.3 - 26 3455 c.3405C>T c.(3403-3405)GCC>GCT p.A1135A GLG1_uc002fcx.2_Silent_p.A1135A|GLG1_uc002fcw.3_Silent_p.A1124A|GLG1_uc002fcz.3_Silent_p.A552A NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 1135 Extracellular (Potential). Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 TTACTTGCATGGCAAGATCAG 0.488 6 137 --- --- --- --- PASS MLKL 197259 broad.mit.edu 37 16 74725174 74725174 + Splice_Site SNP C T T rs144019045 byFrequency TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr16:74725174C>T uc002fdb.2 - 4 1163 c.722_splice c.e4+1 p.A241_splice MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 ATP binding|protein binding|protein kinase activity stomach(2) 2 aaacaacttacgcaatgcTGC 0.194 16 617 --- --- --- --- PASS FAM57A 79850 broad.mit.edu 37 17 641210 641210 + Nonsense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:641210C>T uc002frp.2 + 3 372 c.331C>T c.(331-333)CGA>TGA p.R111* FAM57A_uc002frq.2_Nonsense_Mutation_p.R111*|FAM57A_uc002frr.2_Nonsense_Mutation_p.R21* NM_024792 NP_079068 Q8TBR7 FA57A_HUMAN family with sequence similarity 57, member A 111 TLC. integral to membrane|plasma membrane 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0217) CCTCACTCTTCGAAACTTCCT 0.517 9 390 --- --- --- --- PASS RPA1 6117 broad.mit.edu 37 17 1792101 1792101 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:1792101T>C uc002fto.2 + 14 1622 c.1507T>C c.(1507-1509)TGC>CGC p.C503R NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 503 C4-type (Potential). cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 CTGTGAGAAGTGCGACACCGA 0.493 NER 64 102 --- --- --- --- PASS METT10D 79066 broad.mit.edu 37 17 2323574 2323574 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:2323574G>C uc002fut.2 - 10 1527 c.1379C>G c.(1378-1380)CCG>CGG p.P460R METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_RNA|METT10D_uc002fuv.2_Intron|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_Missense_Mutation_p.P242R NM_024086 NP_076991 Q86W50 MET16_HUMAN methyltransferase 10 domain containing 460 methyltransferase activity 0 CGTGGGTTCCGGGTTTTCCTC 0.632 193 308 --- --- --- --- PASS TRPV3 162514 broad.mit.edu 37 17 3419752 3419752 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:3419752G>A uc002fvt.1 - 16 2519 c.2197C>T c.(2197-2199)CGG>TGG p.R733W SPATA22_uc010vrg.1_5'Flank|TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.R717W|TRPV3_uc010vri.1_Missense_Mutation_p.R688W|TRPV3_uc010vrj.1_Missense_Mutation_p.R717W|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.R717W|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.R733W|TRPV3_uc002fvu.2_Missense_Mutation_p.R733W NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 733 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) CTTTGTTACCGCAAACACAGT 0.537 4 174 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577547 7577547 + Missense_Mutation SNP C A A rs121912656 TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:7577547C>A uc002gim.2 - 7 928 c.734G>T c.(733-735)GGC>GTC p.G245V TP53_uc002gig.1_Missense_Mutation_p.G245V|TP53_uc002gih.2_Missense_Mutation_p.G245V|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113V|TP53_uc010cng.1_Missense_Mutation_p.G113V|TP53_uc002gii.1_Missense_Mutation_p.G113V|TP53_uc010cnh.1_Missense_Mutation_p.G245V|TP53_uc010cni.1_Missense_Mutation_p.G245V|TP53_uc002gij.2_Missense_Mutation_p.G245V|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152V|TP53_uc002gio.2_Missense_Mutation_p.G113V NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and 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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245del(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CCGGTTCATGCCGCCCATGCA 0.582 111 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) 82 56 --- --- --- --- PASS CNTROB 116840 broad.mit.edu 37 17 7837842 7837842 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:7837842G>A uc002gjq.2 + 4 1334 c.415G>A c.(415-417)GAT>AAT p.D139N TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Missense_Mutation_p.D139N|CNTROB_uc002gjr.2_Missense_Mutation_p.D41N|CNTROB_uc010vum.1_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 139 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) CTTTGACAGTGATAGCACAGC 0.512 17 163 --- --- --- --- PASS CNTROB 116840 broad.mit.edu 37 17 7840481 7840481 + Splice_Site SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:7840481G>A uc002gjq.2 + 8 1748 c.829_splice c.e8-1 p.T277_splice CNTROB_uc002gjp.2_Splice_Site_p.T277_splice|CNTROB_uc002gjr.2_Splice_Site_p.T179_splice|CNTROB_uc010vum.1_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) CTTCCTGAAAGACAGTAACCC 0.468 40 654 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16004652 16004652 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:16004652C>A uc002gpo.2 - 20 2842 c.2602G>T c.(2602-2604)GCC>TCC p.A868S NCOR1_uc002gpn.2_Missense_Mutation_p.A884S|NCOR1_uc002gpp.1_Missense_Mutation_p.A775S|NCOR1_uc002gpr.2_Missense_Mutation_p.A775S NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 868 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GGCCTTTGGGCATTTATTTGC 0.498 51 247 --- --- --- --- PASS PSMD3 5709 broad.mit.edu 37 17 38152592 38152592 + Splice_Site SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:38152592G>A uc002htn.1 + 10 1640 c.1476_splice c.e10+1 p.K492_splice PSMD3_uc010wen.1_Splice_Site|PSMD3_uc010weo.1_Splice_Site_p.K393_splice NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) GTCTGTCAAGGTGAGAAGCCC 0.552 12 394 --- --- --- --- PASS KRT9 3857 broad.mit.edu 37 17 39727856 39727856 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:39727856C>A uc002hxe.3 - 1 455 c.389G>T c.(388-390)GGG>GTG p.G130V JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 130 Head. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) ccccccaaacccactcccata 0.109 18 43 --- --- --- --- PASS KLHL11 55175 broad.mit.edu 37 17 40021156 40021156 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:40021156G>T uc002hyf.1 - 1 474 c.468C>A c.(466-468)GCC>GCA p.A156A NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 156 BTB. extracellular region 0 Breast(137;0.00156) ACTCGATTACGGCTTCCACTG 0.687 38 37 --- --- --- --- PASS HSD17B1 3292 broad.mit.edu 37 17 40705530 40705530 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:40705530C>T uc002hzw.2 + 3 1307 c.339C>T c.(337-339)GAC>GAT p.D113D HSD17B1_uc002hzx.2_Silent_p.D113D|HSD17B1_uc010wgm.1_RNA|uc002hzy.2_Silent_p.T17T|HSD17B1_uc010cyi.2_Silent_p.D144D NM_000413 NP_000404 P14061 DHB1_HUMAN hydroxysteroid (17-beta) dehydrogenase 1 113 estrogen biosynthetic process cytosol binding|estradiol 17-beta-dehydrogenase activity 0 all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261) BRCA - Breast invasive adenocarcinoma(366;0.129) NADH(DB00157) CTGTGCTGGACGTGAATGTAG 0.672 6 137 --- --- --- --- PASS SLC4A1 6521 broad.mit.edu 37 17 42328845 42328845 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:42328845C>T uc002igf.3 - 18 2572 c.2423G>A c.(2422-2424)CGC>CAC p.R808H NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 808 Membrane (anion exchange). R -> H (in SPH4; Nara).|R -> C (in SPH4; Jablonec). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AAGCAAGATGCGGTCAAAGAG 0.587 4 209 --- --- --- --- PASS VEZF1 7716 broad.mit.edu 37 17 56051849 56051849 + Silent SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:56051849T>C uc002ivf.1 - 6 1694 c.1551A>G c.(1549-1551)ACA>ACG p.T517T NM_007146 NP_009077 Q14119 VEZF1_HUMAN zinc finger protein 161 517 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 AAGGCGGTGATGTAGGCAAAG 0.383 70 127 --- --- --- --- PASS GH1 2688 broad.mit.edu 37 17 61995723 61995723 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:61995723C>A uc002jdj.2 - 2 216 c.154G>T c.(154-156)GAC>TAC p.D52Y GH1_uc002jdi.2_Missense_Mutation_p.D52Y|GH1_uc002jdk.2_Missense_Mutation_p.D52Y|GH1_uc002jdl.2_Missense_Mutation_p.D52Y|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Missense_Mutation_p.D52Y NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 52 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 TGGTAGGTGTCAAAGGCCAGC 0.572 75 618 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62045698 62045698 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:62045698C>A uc002jds.1 - 6 798 c.721G>T c.(721-723)GGG>TGG p.G241W NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 241 I. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) ATCAGGGCCCCCACGATCGTC 0.607 48 78 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5428395 5428395 + Nonsense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:5428395G>A uc002kmt.1 - 9 1068 c.982C>T c.(982-984)CGA>TGA p.R328* EPB41L3_uc010wzh.1_Nonsense_Mutation_p.R328*|EPB41L3_uc002kmu.1_Nonsense_Mutation_p.R328*|EPB41L3_uc010dkq.1_Nonsense_Mutation_p.R219*|EPB41L3_uc010dks.1_Nonsense_Mutation_p.R350* NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 328 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTGTTTATTCGCAGCCGGTCG 0.418 156 260 --- --- --- --- PASS MIB1 57534 broad.mit.edu 37 18 19345762 19345762 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:19345762A>T uc002ktq.2 + 2 259 c.259A>T c.(259-261)ACC>TCC p.T87S MIB1_uc002ktp.2_5'UTR NM_020774 NP_065825 Q86YT6 MIB1_HUMAN mindbomb homolog 1 87 ZZ-type. Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding ovary(4) 4 STAD - Stomach adenocarcinoma(5;0.212) CATGTGTGATACCTGCCGCCA 0.373 50 107 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21523757 21523757 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:21523757A>T uc002kuq.2 + 69 9118 c.9032A>T c.(9031-9033)CAG>CTG p.Q3011L LAMA3_uc002kur.2_Missense_Mutation_p.Q2955L|LAMA3_uc002kus.3_Missense_Mutation_p.Q1402L|LAMA3_uc002kut.3_Missense_Mutation_p.Q1346L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 3011 Laminin G-like 4. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AACAGGTCACAGTTTGCTGTG 0.502 104 159 --- --- --- --- PASS C18orf34 374864 broad.mit.edu 37 18 30825250 30825250 + Nonsense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:30825250C>A uc002kxn.2 - 14 1694 c.1552G>T c.(1552-1554)GAA>TAA p.E518* C18orf34_uc010dme.1_Nonsense_Mutation_p.E32*|C18orf34_uc010xbr.1_Nonsense_Mutation_p.E518*|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Nonsense_Mutation_p.E518*|C18orf34_uc002kxp.2_Nonsense_Mutation_p.E518* NM_001105528 NP_001098998 Q5BJE1 CR034_HUMAN hypothetical protein LOC374864 isoform 1 518 ovary(1) 1 TCTTCCATTTCATCTGTCTTG 0.333 15 30 --- --- --- --- PASS ONECUT2 9480 broad.mit.edu 37 18 55143669 55143669 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:55143669C>T uc002lgo.2 + 2 1261 c.1229C>T c.(1228-1230)GCG>GTG p.A410V NM_004852 NP_004843 O95948 ONEC2_HUMAN one cut domain, family member 2 410 CUT. organ morphogenesis nucleus sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Colorectal(73;0.234) READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245) TCCCTTCAAGCGTGCAAACGC 0.483 28 56 --- --- --- --- PASS ALPK2 115701 broad.mit.edu 37 18 56274624 56274624 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:56274624C>T uc002lhj.3 - 3 371 c.157G>A c.(157-159)GAT>AAT p.D53N NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 53 Ig-like 1. ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CCACTCCCATCGATGGCCTGA 0.373 30 65 --- --- --- --- PASS POLR2E 5434 broad.mit.edu 37 19 1094003 1094003 + Missense_Mutation SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:1094003A>C uc002lre.3 - 2 209 c.132T>G c.(130-132)TTT>TTG p.F44L POLR2E_uc010xgf.1_Intron NM_002695 NP_002686 P19388 RPAB1_HUMAN DNA directed RNA polymerase II polypeptide E 44 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) 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) GCTTGTCCCCAGATTGGGCTT 0.617 8 77 --- --- --- --- PASS PIAS4 51588 broad.mit.edu 37 19 4012993 4012993 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:4012993C>G uc002lzg.2 + 2 110 c.100C>G c.(100-102)CTG>GTG p.L34V NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 34 SAP. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TAAGAGTGGACTGAAGCACGA 0.562 118 192 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9063009 9063009 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:9063009G>T uc002mkp.2 - 3 24641 c.24437C>A c.(24436-24438)CCC>CAC p.P8146H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8148 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGCACCAGTGGGCACTCCAGA 0.547 12 269 --- --- --- --- PASS COL5A3 50509 broad.mit.edu 37 19 10071107 10071107 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:10071107G>A uc002mmq.1 - 67 5304 c.5218C>T c.(5218-5220)CCC>TCC p.P1740S NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 1740 Fibrillar collagen NC1. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) AAGCAGACGGGGCCCAGTTCA 0.572 38 101 --- --- --- --- PASS RDH8 50700 broad.mit.edu 37 19 10131387 10131387 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:10131387G>T uc002mmr.2 + 4 694 c.445G>T c.(445-447)GTC>TTC p.V149F NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 149 Helical; (Potential). estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CCTCACAGGTGTCATCTTCAA 0.552 10 14 --- --- --- --- PASS OR10H3 26532 broad.mit.edu 37 19 15852965 15852965 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:15852965A>T uc010xoq.1 + 1 763 c.763A>T c.(763-765)AGT>TGT p.S255C NM_013938 NP_039226 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CATGCACTATAGTTTTGCCTC 0.512 7 401 --- --- --- --- PASS OR10H1 26539 broad.mit.edu 37 19 15918197 15918197 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:15918197G>T uc002nbq.2 - 1 740 c.651C>A c.(649-651)CTC>CTA p.L217L NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGCATAGGAGAGGAGGATGA 0.577 88 135 --- --- --- --- PASS HAUS8 93323 broad.mit.edu 37 19 17169361 17169361 + Nonsense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:17169361G>A uc002nfe.2 - 8 754 c.643C>T c.(643-645)CAG>TAG p.Q215* HAUS8_uc002nff.2_Nonsense_Mutation_p.Q214*|HAUS8_uc002nfg.1_Nonsense_Mutation_p.Q154*|HAUS8_uc002nfh.1_Nonsense_Mutation_p.Q215* NM_033417 NP_219485 Q9BT25 HAUS8_HUMAN sarcoma antigen NY-SAR-48 isoform a 215 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole 0 CAACTGACCTGGGCATCCAGG 0.532 41 94 --- --- --- --- PASS FAM129C 199786 broad.mit.edu 37 19 17648193 17648193 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:17648193A>T uc010xpr.1 + 6 667 c.529A>T c.(529-531)ACT>TCT p.T177S FAM129C_uc010xpq.1_Missense_Mutation_p.T177S|FAM129C_uc010xps.1_Missense_Mutation_p.T146S|FAM129C_uc010xpt.1_RNA|FAM129C_uc002ngy.3_5'Flank|FAM129C_uc010xpu.1_5'Flank|FAM129C_uc002ngz.3_5'Flank|FAM129C_uc010eaw.2_5'Flank|FAM129C_uc002nhb.2_5'Flank NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 177 0 AGGAGACCATACTCAGGAAGA 0.433 151 287 --- --- --- --- PASS CRTC1 23373 broad.mit.edu 37 19 18888149 18888149 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:18888149C>T uc002nkb.3 + 14 1950 c.1862C>T c.(1861-1863)GCC>GTC p.A621V CRTC1_uc010ebv.2_Missense_Mutation_p.A637V|CRTC1_uc010ebw.2_Missense_Mutation_p.A457V|CRTC1_uc002nkc.3_Missense_Mutation_p.A319V NM_015321 NP_056136 Q6UUV9 CRTC1_HUMAN mucoepidermoid carcinoma translocated 1 isoform 621 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1) 519 ATGGTTCTGGCCGACCCAGCC 0.687 6 706 --- --- --- --- PASS PRODH2 58510 broad.mit.edu 37 19 36303539 36303539 + Missense_Mutation SNP G T T rs150476704 TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:36303539G>T uc002obx.1 - 2 415 c.397C>A c.(397-399)CTG>ATG p.L133M NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 133 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCACCAACAGCCCGTGAGTG 0.657 18 119 --- --- --- --- PASS ZNF382 84911 broad.mit.edu 37 19 37118098 37118098 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:37118098G>T uc002oek.2 + 5 1412 c.1299G>T c.(1297-1299)GAG>GAT p.E433D ZNF382_uc010efa.2_Missense_Mutation_p.E384D|ZNF382_uc010efb.2_Missense_Mutation_p.E432D|ZNF382_uc002oel.2_Missense_Mutation_p.E432D NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 433 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ACACAGGAGAGAAACCCTATA 0.448 42 255 --- --- --- --- PASS HNRNPL 3191 broad.mit.edu 37 19 39330739 39330739 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:39330739C>T uc010xul.1 - 8 1241 c.1230G>A c.(1228-1230)GAG>GAA p.E410E HNRNPL_uc010ege.1_Silent_p.E66E|HNRNPL_uc002ojj.1_Silent_p.E66E|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojk.2_Silent_p.E66E|HNRNPL_uc002ojl.2_Silent_p.E66E|HNRNPL_uc010xum.1_Silent_p.E277E|HNRNPL_uc002ojp.1_Silent_p.E66E|HNRNPL_uc010xun.1_3'UTR NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 410 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AGCTCACCTTCTCCACATTGC 0.577 11 318 --- --- --- --- PASS CYP2S1 29785 broad.mit.edu 37 19 41703718 41703718 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:41703718G>A uc002opw.2 + 3 433 c.378G>A c.(376-378)CAG>CAA p.Q126Q CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 126 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 GGTGGAGGCAGCTGAGGAAGT 0.587 11 337 --- --- --- --- PASS CD177 57126 broad.mit.edu 37 19 43864424 43864424 + Silent SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:43864424G>T uc002owi.2 + 6 669 c.627G>T c.(625-627)CTG>CTT p.L209L CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA NM_020406 NP_065139 Q8N6Q3 CD177_HUMAN CD177 molecule precursor 209 UPAR/Ly6 1. blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1) 1 Prostate(69;0.00682) CAGATTTTCTGACCTGTCATC 0.552 18 70 --- --- --- --- PASS SYMPK 8189 broad.mit.edu 37 19 46320221 46320221 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:46320221G>A uc002pdn.2 - 24 3338 c.3093C>T c.(3091-3093)TAC>TAT p.Y1031Y RSPH6A_uc002pdm.2_5'Flank NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 1031 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) ACACCTTGGGGTACTTCCACA 0.632 OREG0025562 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 12 --- --- --- --- PASS SIGLEC11 114132 broad.mit.edu 37 19 50461997 50461997 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:50461997C>G uc010ybh.1 - 7 1357 c.1266G>C c.(1264-1266)GAG>GAC p.E422D SIGLEC11_uc010ybi.1_Missense_Mutation_p.E422D NM_052884 NP_443116 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 isoform 1 422 Ig-like C2-type 3.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) TGGGTGGCAGCTCCAGGACCC 0.667 118 70 --- --- --- --- PASS ZIM2 23619 broad.mit.edu 37 19 57293332 57293332 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:57293332A>T uc002qnr.2 - 9 1017 c.635T>A c.(634-636)CTG>CAG p.L212Q uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.L8Q|ZIM2_uc010ygr.1_Missense_Mutation_p.L8Q|ZIM2_uc002qnq.2_Missense_Mutation_p.L212Q|ZIM2_uc010etp.2_Missense_Mutation_p.L212Q|ZIM2_uc010ygs.1_Missense_Mutation_p.L212Q NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 212 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) CAGGGAGACCAGGTTCCGGTA 0.517 95 81 --- --- --- --- PASS CHMP2A 27243 broad.mit.edu 37 19 59063771 59063771 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr19:59063771C>T uc002qti.2 - 2 629 c.203G>A c.(202-204)CGC>CAC p.R68H CHMP2A_uc002qtj.2_Missense_Mutation_p.R68H|CHMP2A_uc002qtk.2_Missense_Mutation_p.R68H NM_198426 NP_940818 O43633 CHM2A_HUMAN chromatin modifying protein 2A 68 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GCGCCGGGTGCGCACCAAGTC 0.507 7 203 --- --- --- --- PASS ANGPT4 51378 broad.mit.edu 37 20 865720 865720 + Splice_Site SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:865720C>A uc002wei.2 - 4 938 c.835_splice c.e4+1 p.A279_splice ANGPT4_uc010zpn.1_Splice_Site_p.A273_splice NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 CGCTCACTCACCCGGGGCCGA 0.667 41 59 --- --- --- --- PASS HSPA12B 116835 broad.mit.edu 37 20 3730636 3730636 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:3730636G>C uc002wjd.2 + 11 1166 c.1063G>C c.(1063-1065)GGC>CGC p.G355R HSPA12B_uc010zqi.1_Missense_Mutation_p.G354R|HSPA12B_uc002wje.2_Missense_Mutation_p.G268R|HSPA12B_uc010zqj.1_Missense_Mutation_p.G189R NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 355 ATP binding 0 TGGCGCGGTGGGCGTGGACCT 0.716 8 18 --- --- --- --- PASS PLUNC 51297 broad.mit.edu 37 20 31827670 31827670 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:31827670C>A uc002wyv.2 + 4 452 c.382C>A c.(382-384)CGT>AGT p.R128S PLUNC_uc002wyt.3_Missense_Mutation_p.R128S|PLUNC_uc002wyu.3_Missense_Mutation_p.R128S NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 128 innate immune response extracellular region lipid binding 0 TGATGGCCACCGTCTCTATGT 0.512 6 717 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33586326 33586326 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:33586326G>A uc002xbi.1 + 32 4105 c.4013G>A c.(4012-4014)CGC>CAC p.R1338H NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1296 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GAGCTGAGTCGCCTGCTAGAG 0.642 7 174 --- --- --- --- PASS IFT52 51098 broad.mit.edu 37 20 42252561 42252561 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:42252561G>A uc002xkw.2 + 10 921 c.799G>A c.(799-801)GCC>ACC p.A267T IFT52_uc002xky.2_Missense_Mutation_p.A267T|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.A243T|IFT52_uc002xkz.2_Missense_Mutation_p.A267T NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 267 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GCCCTACACAGCCACCCTATC 0.493 125 180 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47297836 47297836 + Missense_Mutation SNP T G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:47297836T>G uc002xtw.1 - 11 1395 c.1372A>C c.(1372-1374)AGC>CGC p.S458R NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 458 DEP 1. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCCGTCTTGCTGATTTCACCA 0.542 225 485 --- --- --- --- PASS LSM14B 149986 broad.mit.edu 37 20 60699680 60699680 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:60699680C>T uc010gjy.1 + 2 341 c.135C>T c.(133-135)TCC>TCT p.S45S LSM14B_uc002ybt.2_Silent_p.S45S|LSM14B_uc010gjx.1_Silent_p.S45S|LSM14B_uc002ybv.2_Silent_p.S45S|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR NM_144703 NP_653304 Q9BX40 LS14B_HUMAN LSM14 homolog B 45 multicellular organismal development|regulation of translation ribonucleoprotein complex 0 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.28e-07) AAGTGAGGTCCTTTGGCACTG 0.502 OREG0026104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 155 --- --- --- --- PASS OGFR 11054 broad.mit.edu 37 20 61444505 61444505 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr20:61444505G>A uc002ydj.2 + 7 1573 c.1538G>A c.(1537-1539)GGT>GAT p.G513D OGFR_uc002ydk.2_Missense_Mutation_p.G496D|OGFR_uc002ydl.2_Missense_Mutation_p.G461D|uc011aam.1_Silent_p.Y46Y NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 513 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity 0 Breast(26;3.65e-08) CCCAAAGAAGGTACCCCTGGG 0.701 4 18 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32624423 32624423 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr21:32624423C>A uc002yow.1 - 6 1518 c.1046G>T c.(1045-1047)CGA>CTA p.R349L TIAM1_uc011adk.1_Missense_Mutation_p.R349L|TIAM1_uc011adl.1_Missense_Mutation_p.R349L|TIAM1_uc002yox.1_5'UTR NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 349 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GGCATTAGATCGCCTGGACAG 0.617 28 455 --- --- --- --- PASS PRDM15 63977 broad.mit.edu 37 21 43236175 43236175 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr21:43236175C>T uc002yzq.1 - 26 3487 c.3376G>A c.(3376-3378)GCG>ACG p.A1126T PRDM15_uc002yzo.2_Missense_Mutation_p.A797T|PRDM15_uc002yzp.2_Missense_Mutation_p.A817T|PRDM15_uc002yzr.1_Missense_Mutation_p.A817T NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 1126 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGGCGCAGCGCGTGCTTGGTC 0.637 4 104 --- --- --- --- PASS RTDR1 27156 broad.mit.edu 37 22 23476328 23476328 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr22:23476328G>A uc002zwt.2 - 4 464 c.306C>T c.(304-306)TAC>TAT p.Y102Y RTDR1_uc010gtv.1_Silent_p.Y102Y NM_014433 NP_055248 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region protein 1 102 binding ovary(1) 1 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) CTAGAAAGGCGTATCTAGGGA 0.557 73 105 --- --- --- --- PASS CRYBB3 1417 broad.mit.edu 37 22 25601324 25601324 + Silent SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr22:25601324C>T uc003abo.1 + 5 537 c.465C>T c.(463-465)AAC>AAT p.N155N NM_004076 NP_004067 P26998 CRBB3_HUMAN crystallin, beta B3 155 Beta/gamma crystallin 'Greek key' 3. visual perception protein binding|structural constituent of eye lens 0 GTGCCATCAACGGGACGTAAG 0.542 5 82 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26747016 26747016 + Splice_Site SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr22:26747016A>C uc003acb.2 + 12 2564 c.2408_splice c.e12-2 p.I803_splice SEZ6L_uc003acc.2_Splice_Site_p.I803_splice|SEZ6L_uc011akc.1_Splice_Site_p.I803_splice|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Splice_Site_p.I803_splice|SEZ6L_uc003ace.2_Splice_Site_p.I803_splice|SEZ6L_uc003acf.1_Splice_Site_p.I576_splice|SEZ6L_uc010gvc.1_Splice_Site_p.I576_splice|SEZ6L_uc011ake.1_Splice_Site NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CATCCCGTGTAGTTATGTACT 0.493 71 144 --- --- --- --- PASS SLC5A1 6523 broad.mit.edu 37 22 32445945 32445945 + Missense_Mutation SNP A C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr22:32445945A>C uc003amc.2 + 2 383 c.151A>C c.(151-153)AAT>CAT p.N51H NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 51 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 GTTTTCCACCAATCGTGGGAC 0.473 366 484 --- --- --- --- PASS CACNA1I 8911 broad.mit.edu 37 22 40074003 40074003 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr22:40074003G>A uc003ayc.2 + 31 4945 c.4945G>A c.(4945-4947)GAG>AAG p.E1649K CACNA1I_uc003ayd.2_Missense_Mutation_p.E1614K|CACNA1I_uc003aye.2_Missense_Mutation_p.E1564K|CACNA1I_uc003ayf.2_Missense_Mutation_p.E1529K NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 1649 Extracellular (Potential).|IV. axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CTGCAACGACGAGAACCCGTG 0.657 4 6 --- --- --- --- PASS PNPLA5 150379 broad.mit.edu 37 22 44285214 44285214 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr22:44285214G>T uc003beg.2 - 4 794 c.697C>A c.(697-699)CTC>ATC p.L233I PNPLA5_uc011aqc.1_Missense_Mutation_p.L93I|PNPLA5_uc003beh.2_Missense_Mutation_p.L119I NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 233 lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) CCTACCTCGAGGCTGGGGGGT 0.577 102 154 --- --- --- --- PASS GLRA2 2742 broad.mit.edu 37 X 14550411 14550411 + Missense_Mutation SNP A T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:14550411A>T uc010nep.2 + 3 451 c.119A>T c.(118-120)CAG>CTG p.Q40L GLRA2_uc010neq.2_Missense_Mutation_p.Q40L|GLRA2_uc004cwe.3_Missense_Mutation_p.Q40L|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.Q18L NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 40 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) CAACCTTCACAGACCCTATCT 0.403 69 33 --- --- --- --- PASS RAI2 10742 broad.mit.edu 37 X 17820021 17820021 + Missense_Mutation SNP G T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:17820021G>T uc004cyf.2 - 3 680 c.110C>A c.(109-111)GCC>GAC p.A37D RAI2_uc004cyg.2_Missense_Mutation_p.A37D|RAI2_uc010nfa.2_Missense_Mutation_p.A37D|RAI2_uc004cyh.3_Missense_Mutation_p.A37D|RAI2_uc011miy.1_Missense_Mutation_p.A37D NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 37 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GATGTTCCAGGCCTCGGTGGT 0.577 236 111 --- --- --- --- PASS MAP7D2 256714 broad.mit.edu 37 X 20030581 20030581 + Missense_Mutation SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:20030581T>C uc004czr.1 - 14 1854 c.1835A>G c.(1834-1836)GAC>GGC p.D612G MAP7D2_uc004czq.1_Missense_Mutation_p.D497G|MAP7D2_uc011mji.1_Missense_Mutation_p.D560G|MAP7D2_uc010nfo.1_Missense_Mutation_p.D653G|MAP7D2_uc011mjj.1_Missense_Mutation_p.D567G NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 612 ovary(2)|breast(1) 3 AGAGAAAATGTCTTGGGGATA 0.458 107 51 --- --- --- --- PASS MAP7D2 256714 broad.mit.edu 37 X 20034289 20034289 + Missense_Mutation SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:20034289G>A uc004czr.1 - 10 1463 c.1444C>T c.(1444-1446)CGG>TGG p.R482W MAP7D2_uc004czq.1_Missense_Mutation_p.R367W|MAP7D2_uc011mji.1_Missense_Mutation_p.R430W|MAP7D2_uc010nfo.1_Missense_Mutation_p.R523W|MAP7D2_uc011mjj.1_Missense_Mutation_p.R437W NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 482 ovary(2)|breast(1) 3 tcagccttccgcttggcctcc 0.090 11 8 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53659447 53659447 + Missense_Mutation SNP C T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:53659447C>T uc004dsp.2 - 9 1039 c.637G>A c.(637-639)GAG>AAG p.E213K NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 213 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 ACCCTTTTCTCAATTTTGACC 0.388 41 18 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83319290 83319290 + Silent SNP G A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:83319290G>A uc004eej.1 - 22 2310 c.2233C>T c.(2233-2235)CTG>TTG p.L745L RPS6KA6_uc011mqt.1_Silent_p.L745L|RPS6KA6_uc011mqu.1_Silent_p.L642L NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 745 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 AAATCTTACAGGCCAGTTGAT 0.448 5 17 --- --- --- --- PASS NGFRAP1 27018 broad.mit.edu 37 X 102632595 102632595 + Missense_Mutation SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:102632595G>C uc004eki.2 + 3 558 c.176G>C c.(175-177)GGG>GCG p.G59A NGFRAP1_uc004ekh.2_Missense_Mutation_p.G49A|NGFRAP1_uc004ekj.1_Missense_Mutation_p.G59A NM_206915 NP_996798 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) 59 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding 0 ATCAATGATGGGATGGGTGGA 0.502 213 119 --- --- --- --- PASS NGFRAP1 27018 broad.mit.edu 37 X 102632596 102632596 + Silent SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:102632596G>C uc004eki.2 + 3 559 c.177G>C c.(175-177)GGG>GGC p.G59G NGFRAP1_uc004ekh.2_Silent_p.G49G|NGFRAP1_uc004ekj.1_Silent_p.G59G NM_206915 NP_996798 Q00994 BEX3_HUMAN nerve growth factor receptor (TNFRSF16) 59 apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway cytosol|nucleus caspase regulator activity|metal ion binding 0 TCAATGATGGGATGGGTGGAG 0.502 216 120 --- --- --- --- PASS UTP14A 10813 broad.mit.edu 37 X 129042041 129042041 + Missense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:129042041C>A uc004euz.2 + 3 136 c.108C>A c.(106-108)GAC>GAA p.D36E UTP14A_uc011mup.1_Missense_Mutation_p.D36E|UTP14A_uc011muq.1_Missense_Mutation_p.T4K NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 36 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 CTTAGGGGGACAATGATGGAG 0.398 3 119 --- --- --- --- PASS MST4 51765 broad.mit.edu 37 X 131206391 131206391 + Splice_Site SNP T C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:131206391T>C uc004ewk.1 + 9 1327 c.1026_splice c.e9+2 p.A342_splice MST4_uc004ewl.1_Splice_Site_p.A265_splice|MST4_uc011mux.1_Splice_Site_p.A364_splice|MST4_uc010nrj.1_Splice_Site_p.A342_splice|MST4_uc004ewm.1_Splice_Site_p.A280_splice NM_016542 NP_057626 Q9P289 MST4_HUMAN serine/threonine protein kinase MST4 isoform 1 cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(192;0.000127) AATGGGGCAGTATGTATATGG 0.388 34 13 --- --- --- --- PASS FGF13 2258 broad.mit.edu 37 X 137791014 137791014 + Silent SNP G C C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:137791014G>C uc004fam.2 - 2 926 c.264C>G c.(262-264)ACC>ACG p.T88T FGF13_uc004fan.2_Silent_p.T35T|FGF13_uc011mwi.1_Silent_p.T69T|FGF13_uc004faq.2_Silent_p.T98T|FGF13_uc004far.2_Silent_p.T69T|FGF13_uc011mwj.1_Silent_p.T98T|FGF13_uc011mwk.1_Silent_p.T42T NM_004114 NP_004105 Q92913 FGF13_HUMAN fibroblast growth factor 13 isoform 1 88 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) TGCCATCAATGGTTCCATCCG 0.408 130 54 --- --- --- --- PASS CDR1 1038 broad.mit.edu 37 X 139865876 139865876 + Missense_Mutation SNP C G G TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:139865876C>G uc004fbg.1 - 1 848 c.656G>C c.(655-657)GGA>GCA p.G219A uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 219 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) TCCACCAAATCCAGGTCTTCC 0.438 7 229 --- --- --- --- PASS MAGEC1 9947 broad.mit.edu 37 X 140996561 140996561 + Nonsense_Mutation SNP C A A TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chrX:140996561C>A uc004fbt.2 + 4 3657 c.3371C>A c.(3370-3372)TCG>TAG p.S1124* MAGEC1_uc010nsl.1_Nonsense_Mutation_p.S191* NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1124 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) ACAGATGATTCGACTGCCACA 0.483 HNSCC(15;0.026) 131 45 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195512373 195512374 + In_Frame_Ins INS - GAT GAT rs140335395 by1000genomes TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr3:195512373_195512374insGAT uc011bto.1 - 2 6537_6538 c.6077_6078insATC c.(6076-6078)TCC>TCATCC p.2026_2026S>SS MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 798 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGTCACCAGTGGATGCTGAGGA 0.579 4 3 --- --- --- --- PMCH 5367 broad.mit.edu 37 12 102591380 102591381 + Frame_Shift_Ins INS - T T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr12:102591380_102591381insT uc001tjl.2 - 1 234_235 c.168_169insA c.(166-171)AAATCAfs p.K56fs NM_002674 NP_002665 P20382 MCH_HUMAN pro-melanin-concentrating hormone 56_57 cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission melanin-concentrating hormone activity 0 GCAATAACTGATTTTTCTGCAG 0.366 39 27 --- --- --- --- GAS7 8522 broad.mit.edu 37 17 9837542 9837542 + Frame_Shift_Del DEL C - - TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:9837542delC uc002gmg.1 - 9 987 c.826delG c.(826-828)GCCfs p.A276fs GAS7_uc010vvc.1_Frame_Shift_Del_p.A90fs|GAS7_uc002gmh.1_Frame_Shift_Del_p.A136fs|GAS7_uc010vvd.1_Frame_Shift_Del_p.A228fs|GAS7_uc002gmi.2_Frame_Shift_Del_p.A212fs|GAS7_uc002gmj.1_Frame_Shift_Del_p.A216fs|GAS7_uc010coh.1_Frame_Shift_Del_p.A216fs NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 276 FCH. cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TTCACCTGGGCCCACGCCTCT 0.577 T MLL AML* 57 29 --- --- --- --- RECQL5 9400 broad.mit.edu 37 17 73626918 73626919 + Splice_Site INS - TG TG rs142406301 by1000genomes TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr17:73626918_73626919insTG uc010dgl.2 - 12 1742 c.1586_splice c.e12-1 p.D529_splice RECQL5_uc010dgk.2_Splice_Site_p.D502_splice|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTTCTCATCTGTGGGGGGGG 0.644 Other_identified_genes_with_known_or_suspected_DNA_repair_function 9 7 --- --- --- --- ZNF271 10778 broad.mit.edu 37 18 32886765 32886765 + Frame_Shift_Del DEL G - - TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 803ec3a5-4347-41c3-a7b6-7eb00427a48c ec60a2b3-76d2-4c72-b3dd-6bf632664b6a g.chr18:32886765delG uc002kyq.3 + 3 1169 c.177delG c.(175-177)GTGfs p.V59fs ZNF271_uc002kyp.3_Frame_Shift_Del_p.V59fs|ZNF271_uc002kyr.3_Frame_Shift_Del_p.V59fs NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 TAATGAGTGTGGGAAAGCTTT 0.388 77 36 --- --- --- ---