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 ACTL8 81569 broad.mit.edu 37 1 18149715 18149715 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:18149715G>A uc001bat.2 + 2 428 c.212G>A c.(211-213)CGC>CAC p.R71H NM_030812 NP_110439 Q9H568 ACTL8_HUMAN actin-like 8 71 cytoplasm|cytoskeleton ovary(4) 4 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) GAGCGGGGCCGCATCCTCAAC 0.597 SPOCD1 90853 broad.mit.edu 37 1 32280067 32280067 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:32280067C>T uc001bts.1 - 2 926 c.868G>A c.(868-870)GCT>ACT p.A290T SPOCD1_uc001btu.2_Missense_Mutation_p.A290T|SPOCD1_uc001btv.2_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 290 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TCCCCTGTAGCGGGCAAATAT 0.632 PTPRF 5792 broad.mit.edu 37 1 44056912 44056912 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:44056912C>T uc001cjr.2 + 9 1559 c.1219C>T c.(1219-1221)CGC>TGC p.R407C PTPRF_uc001cjs.2_Missense_Mutation_p.R407C|PTPRF_uc001cju.2_Translation_Start_Site|PTPRF_uc009vwt.2_Translation_Start_Site|PTPRF_uc001cjv.2_Translation_Start_Site NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 407 Extracellular (Potential).|Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGTGCGGGCACGCACGGGAGA 0.701 CLCA1 1179 broad.mit.edu 37 1 86951220 86951220 + Frame_Shift_Del DEL C - - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:86951220delC uc001dlt.2 + 6 1059 c.930delC c.(928-930)GTCfs p.V310fs CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 310 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) TGTGTTTAGTCCTTGACAAAT 0.448 SLAMF6 114836 broad.mit.edu 37 1 160465979 160465979 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:160465979C>T uc001fwe.1 - 2 314 c.254G>A c.(253-255)CGA>CAA p.R85Q SLAMF6_uc001fwd.1_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.1_Missense_Mutation_p.R36Q|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Missense_Mutation_p.R36Q NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 85 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GAAGTTCAGTCGCTTTCCCTG 0.463 C1orf220 400798 broad.mit.edu 37 1 178514674 178514674 + Silent SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:178514674G>A uc001glx.1 + 2 417 c.60G>A c.(58-60)AGG>AGA p.R20R C1orf49_uc001glv.1_Intron NM_207467 NP_997350 hypothetical protein LOC400798 0 tgagattgagggaggctgaaa 0.254 NPHS2 7827 broad.mit.edu 37 1 179520378 179520378 + Missense_Mutation SNP A G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:179520378A>G uc001gmq.3 - 8 1167 c.1082T>C c.(1081-1083)CTC>CCC p.L361P C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Missense_Mutation_p.L293P|C1orf125_uc001gmr.2_RNA NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 361 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 TGGGAAGGGGAGGCTTCCCTG 0.473 CENPF 1063 broad.mit.edu 37 1 214816089 214816089 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:214816089G>A uc001hkm.2 + 12 4582 c.4408G>A c.(4408-4410)GAG>AAG p.E1470K NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1566 1-2.|2 X 96 AA approximate tandem repeats. Missing. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GGGCTTGGAGGAGGGGCTCGT 0.478 EPRS 2058 broad.mit.edu 37 1 220154727 220154727 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr1:220154727T>C uc001hly.1 - 24 3716 c.3446A>G c.(3445-3447)AAT>AGT p.N1149S NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1149 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TACCACCACATTGCACCACTG 0.358 ARMC4 55130 broad.mit.edu 37 10 28229643 28229643 + Missense_Mutation SNP G T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr10:28229643G>T uc009xky.2 - 13 1933 c.1835C>A c.(1834-1836)GCA>GAA p.A612E ARMC4_uc010qds.1_Missense_Mutation_p.A137E|ARMC4_uc010qdt.1_Missense_Mutation_p.A304E|ARMC4_uc001itz.2_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 612 binding ovary(4)|skin(2) 6 CAGGGCCAGTGCCCCACAGCG 0.517 PTEN 5728 broad.mit.edu 37 10 89685314 89685314 + Missense_Mutation SNP T A A rs121909226 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr10:89685314T>A uc001kfb.2 + 4 1240 c.209T>A c.(208-210)CTT>CAT p.L70H NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 70 Phosphatase tensin-type. L -> P (in CD). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.?(4)|p.L70fs*7(4)|p.R55fs*1(4)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.L70F(1)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ATATACAATCTGTAAGTATGT 0.279 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) CDHR5 53841 broad.mit.edu 37 11 618758 618758 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr11:618758T>C uc001lqj.2 - 13 1906 c.1801A>G c.(1801-1803)ACA>GCA p.T601A IRF7_uc001lqh.2_5'Flank|IRF7_uc001lqi.2_5'Flank|IRF7_uc010qwh.1_5'Flank|CDHR5_uc001lqk.2_Intron|CDHR5_uc009ycc.2_Missense_Mutation_p.T435A|CDHR5_uc009ycd.2_Missense_Mutation_p.T595A|CDHR5_uc001lql.2_Missense_Mutation_p.T601A NM_021924 NP_068743 Q9HBB8 CDHR5_HUMAN mucin and cadherin-like isoform 1 601 4 X 31 AA approximate tandem repeats.|2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 GTCTGTGCTGTGCCCCCACCG 0.667 CD3E 916 broad.mit.edu 37 11 118184559 118184559 + Nonsense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr11:118184559C>T uc001psq.3 + 7 746 c.490C>T c.(490-492)CGA>TGA p.R164* NM_000733 NP_000724 P07766 CD3E_HUMAN CD3E antigen, epsilon polypeptide precursor 164 Cytoplasmic (Potential). G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway external side of plasma membrane|integral to plasma membrane protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity ovary(2) 2 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251) Muromonab(DB00075) GCCTGTGACACGAGGAGCGGG 0.597 ABCC9 10060 broad.mit.edu 37 12 22065805 22065805 + Splice_Site DEL C - - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr12:22065805delC uc001rfi.1 - 6 1031 c.1011_splice c.e6+1 p.G337_splice ABCC9_uc001rfh.2_Splice_Site_p.G337_splice|ABCC9_uc001rfj.1_Splice_Site_p.G337_splice NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CAGGAACTTACTCCAGTTGTG 0.353 WNT10B 7480 broad.mit.edu 37 12 49361974 49361974 + Silent SNP G T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr12:49361974G>T uc001rss.2 - 4 812 c.466C>A c.(466-468)CGG>AGG p.R156R WNT10B_uc001rst.2_Silent_p.R156R NM_003394 NP_003385 O00744 WN10B_HUMAN wingless-type MMTV integration site family, 156 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity p.R156Q(1) skin(4)|lung(3) 7 GCCCTCAGCCGATCCTGCTCA 0.532 EP400 57634 broad.mit.edu 37 12 132471269 132471269 + Missense_Mutation SNP C A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr12:132471269C>A uc001ujn.2 + 5 2175 c.2140C>A c.(2140-2142)CCC>ACC p.P714T EP400_uc001ujl.2_Missense_Mutation_p.P713T|EP400_uc001ujm.2_Missense_Mutation_p.P714T|EP400_uc001ujj.1_Missense_Mutation_p.P677T|EP400_uc001ujk.2_Missense_Mutation_p.P750T NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 750 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GGCATCTGCCCCCACCAAACC 0.532 RB1 5925 broad.mit.edu 37 13 48919325 48919332 + Frame_Shift_Del DEL AAATTGGA - - rs66624868 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr13:48919325_48919332delAAATTGGA uc001vcb.2 + 4 656_663 c.490_497delAAATTGGA c.(490-498)AAATTGGAAfs p.K164fs RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 164_166 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5)|p.E166*(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACTCTTCAGCAAATTGGAAAGGTAAAGT 0.284 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) KIAA0317 9870 broad.mit.edu 37 14 75149998 75149998 + Splice_Site SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr14:75149998C>T uc001xqb.2 - 5 986 c.481_splice c.e5+1 p.G161_splice KIAA0317_uc010tut.1_Splice_Site|KIAA0317_uc001xqc.2_Splice_Site_p.G161_splice NM_001039479 NP_001034568 O15033 K0317_HUMAN hypothetical protein LOC9870 protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity ovary(2)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00404) aaagaaCCTACCAGGTTGAAA 0.239 PGP 283871 broad.mit.edu 37 16 2263929 2263929 + Missense_Mutation SNP C A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:2263929C>A uc002cpk.1 - 2 810 c.766G>T c.(766-768)GTC>TTC p.V256F C16orf79_uc002cpi.1_5'Flank|C16orf79_uc010bsh.2_5'Flank|PGP_uc010uvz.1_RNA NM_001042371 NP_001035830 A6NDG6 PGP_HUMAN phosphoglycolate phosphatase 256 carbohydrate metabolic process phosphoglycolate phosphatase activity skin(1) 1 CCCACCATGACGGTGCGCTCG 0.632 CDH5 1003 broad.mit.edu 37 16 66426078 66426078 + Missense_Mutation SNP G A A rs147523967 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:66426078G>A uc002eom.3 + 7 1165 c.1009G>A c.(1009-1011)GTC>ATC p.V337I CDH5_uc002eon.1_Missense_Mutation_p.V337I NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 337 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CAGCTTCATCGTCGAGGCCAC 0.433 PMFBP1 83449 broad.mit.edu 37 16 72153835 72153835 + Silent SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:72153835G>A uc002fcc.3 - 20 3109 c.2937C>T c.(2935-2937)TGC>TGT p.C979C PMFBP1_uc002fcd.2_Silent_p.C974C|PMFBP1_uc002fce.2_RNA|PMFBP1_uc002fcf.2_Silent_p.C849C NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 979 ovary(2) 2 Ovarian(137;0.179) CCAAGGTGCCGCACACTTTCT 0.557 KARS 3735 broad.mit.edu 37 16 75669879 75669879 + Silent SNP C T T rs143003475 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr16:75669879C>T uc002feq.2 - 5 648 c.600G>A c.(598-600)CCG>CCA p.P200P KARS_uc002fer.2_Silent_p.P228P|KARS_uc002fes.2_Silent_p.P44P|KARS_uc010cgz.2_Silent_p.P44P NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 200 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) TGATCTCATACGGAATGATGC 0.448 OR1G1 8390 broad.mit.edu 37 17 3030338 3030338 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:3030338C>T uc002fvc.1 - 1 508 c.508G>A c.(508-510)GCA>ACA p.A170T NM_003555 NP_003546 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCATGGTTTGCGCAGAAGGAC 0.532 TP53 7157 broad.mit.edu 37 17 7577568 7577568 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:7577568C>T uc002gim.2 - 7 907 c.713G>A c.(712-714)TGT>TAT p.C238Y TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.2_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 238 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (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.C238Y(47)|p.C238F(34)|p.C238S(18)|p.C238R(14)|p.0?(7)|p.C238*(4)|p.C238W(2)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.C238fs*9(1)|p.M237_N239delMCN(1)|p.C238fs*21(1)|p.C238del(1)|p.C238G(1)|p.C238C(1)|p.M237fs*1(1)|p.C145F(1)|p.H233fs*6(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.M237_C238insX(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) GGAACTGTTACACATGTAGTT 0.572 111 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) TP53 7157 broad.mit.edu 37 17 7578235 7578235 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:7578235T>C uc002gim.2 - 6 808 c.614A>G c.(613-615)TAT>TGT p.Y205C TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 205 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (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.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(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) GTCATCCAAATACTCCACACG 0.542 111 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) MYH2 4620 broad.mit.edu 37 17 10432765 10432765 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr17:10432765G>A uc010coi.2 - 25 3279 c.3151C>T c.(3151-3153)CGC>TGC p.R1051C uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1051C|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1051 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AGGTCCATGCGAAGTTTCTTT 0.383 MUC16 94025 broad.mit.edu 37 19 9068025 9068025 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr19:9068025T>C uc002mkp.2 - 3 19625 c.19421A>G c.(19420-19422)CAC>CGC p.H6474R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6476 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 CATAGCTGAGTGGGTCCCTGC 0.488 LDLR 3949 broad.mit.edu 37 19 11224247 11224247 + Silent SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr19:11224247T>C uc002mqk.3 + 10 1563 c.1395T>C c.(1393-1395)TAT>TAC p.Y465Y LDLR_uc010xlk.1_Silent_p.Y465Y|LDLR_uc010xll.1_Silent_p.Y424Y|LDLR_uc010xlm.1_Silent_p.Y318Y|LDLR_uc010xln.1_Silent_p.Y338Y|LDLR_uc010xlo.1_Silent_p.Y297Y NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 465 LDL-receptor class B 2.|Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) TCTCTTCCTATGACACCGTCA 0.622 PRPF31 26121 broad.mit.edu 37 19 54621969 54621969 + Missense_Mutation SNP T C C rs145505952 byFrequency TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr19:54621969T>C uc002qdh.2 + 3 590 c.194T>C c.(193-195)ATG>ACG p.M65T TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 65 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAGATTATGATGAAGATTGAG 0.502 RPL23AP32 56969 broad.mit.edu 37 2 54756737 54756737 + Silent SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:54756737T>C uc010yot.1 + 1 379 c.255T>C c.(253-255)TTT>TTC p.F85F SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron NR_002229 SubName: Full=Putative uncharacterized protein DKFZp547I014; 0 CCACTGAGTTTGCCATGAAGA 0.478 TGFA 7039 broad.mit.edu 37 2 70742029 70742029 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:70742029G>A uc002sgs.3 - 2 262 c.56C>T c.(55-57)GCG>GTG p.A19V TGFA_uc010fdq.2_Missense_Mutation_p.A25V|TGFA_uc010fdr.2_Missense_Mutation_p.A25V|TGFA_uc002sgt.3_Missense_Mutation_p.A19V|TGFA_uc002sgu.2_Missense_Mutation_p.A19V|TGFA_uc002sgv.2_Missense_Mutation_p.A19V|TGFA_uc002sgw.2_Missense_Mutation_p.A19V NM_003236 NP_003227 P01135 TGFA_HUMAN transforming growth factor, alpha isoform 1 19 activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity prostate(1) 1 GGCCTGGCACGCAGCCAACAC 0.597 THNSL2 55258 broad.mit.edu 37 2 88472749 88472749 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:88472749G>A uc002ssz.3 + 2 233 c.80G>A c.(79-81)GGG>GAG p.G27E THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Missense_Mutation_p.G27E|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.G27E NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 27 threonine biosynthetic process threonine synthase activity ovary(1) 1 GCACCTGACGGGGGCCTCTTT 0.607 WASH2P 375260 broad.mit.edu 37 2 114356239 114356239 + Silent SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:114356239T>C uc002tkh.2 + 6 775 c.717T>C c.(715-717)CGT>CGC p.R239R WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCTTTGCCCGTGTGTCAGACT 0.642 YSK4 80122 broad.mit.edu 37 2 135745654 135745654 + Missense_Mutation SNP T G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:135745654T>G uc002tue.1 - 7 819 c.788A>C c.(787-789)GAG>GCG p.E263A YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_5'UTR|YSK4_uc002tui.3_Missense_Mutation_p.E280A NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 263 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) TCCCGGAGGCTCGTTTGATGG 0.443 ARHGAP15 55843 broad.mit.edu 37 2 143913090 143913090 + Missense_Mutation SNP G A A rs140767178 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:143913090G>A uc002tvm.3 + 2 182 c.31G>A c.(31-33)GTG>ATG p.V11M ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 11 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TGATACTTCCGTGGAAACACT 0.363 SCN7A 6332 broad.mit.edu 37 2 167262458 167262458 + Missense_Mutation SNP C A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:167262458C>A uc002udu.1 - 25 4808 c.4681G>T c.(4681-4683)GCT>TCT p.A1561S NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1561 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 AGGTCCAAAGCAATGAGCTGG 0.453 INPP5D 3635 broad.mit.edu 37 2 234106832 234106832 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:234106832G>A uc010zmo.1 + 24 2938 c.2785G>A c.(2785-2787)GTG>ATG p.V929M INPP5D_uc010zmp.1_Missense_Mutation_p.V928M NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 929 Pro-rich. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GCCCCTGCACGTGAAGCAGAC 0.647 UGT1A1 54658 broad.mit.edu 37 2 234669017 234669017 + Silent SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:234669017G>A uc002vvb.2 + 1 99 c.84G>A c.(82-84)GGG>GGA p.G28G UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.G28G NM_000463 NP_000454 P22309 UD11_HUMAN UDP glycosyltransferase 1 family, polypeptide A1 28 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding central_nervous_system(1)|skin(1) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCCATGCTGGGAAGATACTGT 0.617 PPP1R7 5510 broad.mit.edu 37 2 242105797 242105797 + Missense_Mutation SNP C G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr2:242105797C>G uc002wat.1 + 8 775 c.760C>G c.(760-762)CTG>GTG p.L254V PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002war.2_Missense_Mutation_p.L248V|PPP1R7_uc002was.2_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V|PPP1R7_uc002wav.1_Missense_Mutation_p.L180V NM_002712 NP_002703 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 254 LRR 9. cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity ovary(3) 3 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) CCTGGTGAACCTGCGGGAGCT 0.552 C20orf72 92667 broad.mit.edu 37 20 17950509 17950509 + Missense_Mutation SNP A G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr20:17950509A>G uc002wqh.2 + 2 89 c.7A>G c.(7-9)ATG>GTG p.M3V C20orf72_uc010gco.2_RNA|C20orf72_uc010gcp.2_5'Flank|SNX5_uc002wqc.2_5'Flank|SNX5_uc002wqd.2_5'Flank|SNX5_uc002wqe.2_5'Flank|SNX5_uc010zrt.1_5'Flank|SNX5_uc010gcn.1_5'Flank NM_052865 NP_443097 Q9BQP7 CT072_HUMAN hypothetical protein LOC92667 3 0 CTGAATGAAGATGAAGTTATT 0.408 WFDC8 90199 broad.mit.edu 37 20 44184401 44184401 + Silent SNP G A A rs150100809 byFrequency TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr20:44184401G>A uc002xow.2 - 4 463 c.384C>T c.(382-384)TGC>TGT p.C128C WFDC8_uc002xox.2_Silent_p.C128C NM_181510 NP_852611 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 precursor 128 BPTI/Kunitz inhibitor. extracellular region serine-type endopeptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) CATTCCCTTCGCAGCCCCTGT 0.468 MC3R 4159 broad.mit.edu 37 20 54824279 54824279 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr20:54824279C>T uc002xxb.2 + 1 492 c.380C>T c.(379-381)TCC>TTC p.S127F NM_019888 NP_063941 P41968 MC3R_HUMAN melanocortin 3 receptor 164 Helical; Name=3; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding ovary(2)|breast(2) 4 Colorectal(105;0.202) ATCTGCATCTCCCTGGTGGCC 0.557 KRTAP24-1 643803 broad.mit.edu 37 21 31654689 31654689 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr21:31654689C>T uc002ynv.2 - 1 588 c.562G>A c.(562-564)GTC>ATC p.V188I NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 188 keratin filament structural molecule activity 0 AATGGTGAGACGTAGCTGGGT 0.418 PRDM15 63977 broad.mit.edu 37 21 43281674 43281674 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr21:43281674G>A uc002yzq.1 - 7 1000 c.889C>T c.(889-891)CCG>TCG p.P297S PRDM15_uc002yzo.2_Intron|PRDM15_uc002yzp.2_Intron|PRDM15_uc002yzr.1_Intron NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 297 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTGCGCACCGGCATGTCCTTC 0.463 COL6A2 1292 broad.mit.edu 37 21 47546138 47546138 + Silent SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr21:47546138C>T uc002zia.1 + 26 2491 c.2409C>T c.(2407-2409)GAC>GAT p.D803D COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zib.1_Silent_p.D209D|COL6A2_uc002zic.1_5'Flank NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 803 VWFA 2.|Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACATGGAGGACGTCCTCTGCC 0.647 RIMBP3 85376 broad.mit.edu 37 22 20458331 20458331 + Missense_Mutation SNP C G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr22:20458331C>G uc002zsd.3 - 1 3456 c.2971G>C c.(2971-2973)GTG>CTG p.V991L NM_015672 NP_056487 RIMS binding protein 3 0 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) ATACGGAGCACCCCTTTGGTC 0.602 PISD 23761 broad.mit.edu 37 22 32017352 32017352 + Missense_Mutation SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr22:32017352C>T uc003alm.3 - 5 672 c.665G>A c.(664-666)CGT>CAT p.R222H PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc003all.2_Missense_Mutation_p.R187H|PISD_uc011alr.1_Missense_Mutation_p.R187H|PISD_uc003aln.3_Missense_Mutation_p.R222H NM_014338 NP_055153 Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 222 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(2)|ovary(1) 3 Phosphatidylserine(DB00144) TGTGCACATACGCGGGCCCAG 0.627 OREG0003530 type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay CAND2 23066 broad.mit.edu 37 3 12856870 12856870 + Missense_Mutation SNP T A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr3:12856870T>A uc003bxk.2 + 8 1286 c.1237T>A c.(1237-1239)TGG>AGG p.W413R CAND2_uc003bxj.2_Missense_Mutation_p.W320R NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 413 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CCCGAAGGGATGGCTGGAGGC 0.607 LRIG1 26018 broad.mit.edu 37 3 66455660 66455660 + Silent SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr3:66455660C>T uc003dmx.2 - 9 1136 c.1122G>A c.(1120-1122)ACG>ACA p.T374T LRIG1_uc011bfu.1_5'Flank|LRIG1_uc003dmw.2_Silent_p.T40T|LRIG1_uc010hnz.2_Silent_p.T114T|LRIG1_uc010hoa.2_Silent_p.T374T NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 374 Extracellular (Potential).|LRR 13. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) AGGCGCCGCTCGTGTCCTCTA 0.612 GPR15 2838 broad.mit.edu 37 3 98251885 98251885 + Missense_Mutation SNP C G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr3:98251885C>G uc011bgy.1 + 1 1008 c.1008C>G c.(1006-1008)CAC>CAG p.H336Q NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 336 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) CAGATAGTCACCTCACTAAGG 0.483 PDLIM5 10611 broad.mit.edu 37 4 95575673 95575673 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr4:95575673G>A uc003hti.2 + 10 1497 c.1346G>A c.(1345-1347)TGC>TAC p.C449Y PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003hth.2_Missense_Mutation_p.C340Y|PDLIM5_uc003htj.2_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.2_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.1_Missense_Mutation_p.C327Y|PDLIM5_uc003htl.2_Missense_Mutation_p.C124Y NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 isoform a 449 LIM zinc-binding 1. regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding ovary(1)|skin(1) 2 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TGCGCTCACTGCAAAAATACA 0.448 ODZ3 55714 broad.mit.edu 37 4 183710311 183710311 + Silent SNP C T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr4:183710311C>T uc003ivd.1 + 24 5407 c.5370C>T c.(5368-5370)GAC>GAT p.D1790D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1790 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGATCTATGACGACCACCGTA 0.448 SLC12A7 10723 broad.mit.edu 37 5 1085433 1085433 + Silent SNP C T T rs112522540 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:1085433C>T uc003jbu.2 - 7 897 c.831G>A c.(829-831)GCG>GCA p.A277A NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 277 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGAAGACCAGCGCCAGCTTGT 0.637 JMY 133746 broad.mit.edu 37 5 78533329 78533329 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:78533329T>C uc003kfx.3 + 1 1376 c.856T>C c.(856-858)TGT>CGT p.C286R NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 286 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CGACACTCTGTGTTACCAGCT 0.632 EGR1 1958 broad.mit.edu 37 5 137801566 137801568 + In_Frame_Del DEL TGC - - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:137801566_137801568delTGC uc003ldb.1 + 1 386_388 c.116_118delTGC c.(115-120)ATGCTG>ATG p.L41del EGR1_uc011cyu.1_In_Frame_Del_p.L41del NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 41 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GAGGAGATGATGCTGCTGAGCAA 0.488 MED7 9443 broad.mit.edu 37 5 156566183 156566183 + Missense_Mutation SNP A G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:156566183A>G uc010jik.2 - 2 652 c.260T>C c.(259-261)ATT>ACT p.I87T MED7_uc003lwm.3_Missense_Mutation_p.I87T NM_001100816 NP_001094286 O43513 MED7_HUMAN mediator complex subunit 7 87 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex protein binding|transcription coactivator activity 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAAGAAATTAATAAGGATAGA 0.378 SQSTM1 8878 broad.mit.edu 37 5 179260112 179260114 + In_Frame_Del DEL GAG - - TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr5:179260112_179260114delGAG uc003mkw.3 + 6 930_932 c.835_837delGAG c.(835-837)GAGdel p.E280del SQSTM1_uc011dgr.1_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.1_In_Frame_Del_p.E196del|SQSTM1_uc003mkv.3_In_Frame_Del_p.E280del|SQSTM1_uc003mkx.2_In_Frame_Del_p.E196del NM_003900 NP_003891 Q13501 SQSTM_HUMAN sequestosome 1 isoform 1 280 Interaction with NTRK1 (By similarity).|Ser-rich. anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCAGCACAGAGGAGAAGAGCA 0.596 Paget_Disease_of_Bone HSP90AB1 3326 broad.mit.edu 37 6 44217828 44217828 + Missense_Mutation SNP G C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:44217828G>C uc003oxa.1 + 5 669 c.585G>C c.(583-585)GAG>GAC p.E195D HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 195 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ACCTAGAAGAGAGGCGGGTCA 0.428 GSTA4 2941 broad.mit.edu 37 6 52850376 52850376 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:52850376G>A uc003pbc.2 - 3 209 c.145C>T c.(145-147)CAC>TAC p.H49Y GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.H49Y NM_001512 NP_001503 O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 49 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity 0 Lung NSC(77;0.103) Glutathione(DB00143) AACAGCAGGTGGTTACCTGAG 0.458 PHF3 23469 broad.mit.edu 37 6 64416078 64416078 + Missense_Mutation SNP A T T TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:64416078A>T uc003pep.1 + 11 3553 c.3527A>T c.(3526-3528)CAG>CTG p.Q1176L PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1176 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GAGGAGAAACAGGAGTCTCCA 0.378 EZR 7430 broad.mit.edu 37 6 159210403 159210403 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:159210403T>C uc003qrt.3 - 2 228 c.13A>G c.(13-15)ATC>GTC p.I5V EZR_uc011efs.1_Missense_Mutation_p.I5V|EZR_uc003qru.3_Missense_Mutation_p.I5V NM_003379 NP_003370 P15311 EZRI_HUMAN ezrin 5 FERM. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) CGGACATTGATCTGAAAAACA 0.428 MLLT4 4301 broad.mit.edu 37 6 168343837 168343837 + Missense_Mutation SNP A G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr6:168343837A>G uc003qwd.2 + 23 3246 c.3104A>G c.(3103-3105)TAT>TGT p.Y1035C MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.1_Missense_Mutation_p.Y1036C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1036 PDZ. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CTAGGAATCTATGTGAAGTCG 0.373 T MLL AL EGFR 1956 broad.mit.edu 37 7 55249002 55249003 + In_Frame_Ins INS - CAGCGTGGA CAGCGTGGA TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr7:55249002_55249003insCAGCGTGGA uc003tqk.2 + 20 2546_2547 c.2300_2301insCAGCGTGGA c.(2299-2301)GCC>GCCAGCGTGGAC p.770_771insSVD EGFR_uc010kzg.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.1_In_Frame_Ins_p.717_718insSVD|uc003tqo.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 770_771 Cytoplasmic (Potential).|Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.D770_N771insSVD(21)|p.V769_D770insASV(20)|p.D770_N771insG(6)|p.D770>GY(3)|p.V769_D770insMASVD(2)|p.A767V(2)|p.V769_D770insGVV(2)|p.V769_D770insCV(1)|p.D770N(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TACGTGATGGCCAGCGTGGACA 0.649 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) CYP3A5 1577 broad.mit.edu 37 7 99277452 99277452 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr7:99277452T>C uc003urq.2 - 1 155 c.68A>G c.(67-69)TAT>TGT p.Y23C ZNF498_uc003urn.2_Intron|CYP3A5_uc003urr.2_5'UTR|CYP3A5_uc011kiy.1_5'UTR|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron|CYP3A5_uc003urt.2_Missense_Mutation_p.Y23C NM_000777 NP_000768 P20815 CP3A5_HUMAN cytochrome P450, family 3, subfamily A, 23 alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding 0 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541) TACTCACAGATAGAGGAGCAC 0.488 DOCK5 80005 broad.mit.edu 37 8 25232155 25232155 + Silent SNP C T T rs138488512 TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr8:25232155C>T uc003xeg.2 + 37 3938 c.3801C>T c.(3799-3801)CAC>CAT p.H1267H DOCK5_uc003xeh.1_Silent_p.H981H|PPP2R2A_uc003xek.2_Silent_p.H56H|DOCK5_uc003xei.2_Silent_p.H837H|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1267 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) TTCTCTTGCACGCTGAGCTTC 0.463 TBC1D2 55357 broad.mit.edu 37 9 101017509 101017509 + Missense_Mutation SNP G C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chr9:101017509G>C uc011lvb.1 - 1 495 c.315C>G c.(313-315)GAC>GAG p.D105E TBC1D2_uc004ayq.2_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.2_5'UTR|TBC1D2_uc004ayo.3_Missense_Mutation_p.D105E NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 105 PH.|Interaction with CADH1. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) CCTCCTCAGCGTCCGCCTTAC 0.537 PLCXD1 55344 broad.mit.edu 37 X 215977 215977 + Missense_Mutation SNP T C C TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:215977T>C uc004cpc.2 + 7 1259 c.947T>C c.(946-948)CTC>CCC p.L316P PLCXD1_uc011mgx.1_RNA NM_018390 NP_060860 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X 316 intracellular signal transduction|lipid metabolic process phospholipase C activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTCATCGCGCTCAATCAGAAG 0.602 WWC3 55841 broad.mit.edu 37 X 10096087 10096087 + Nonsense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:10096087G>A uc004csx.3 + 16 2364 c.2166G>A c.(2164-2166)TGG>TGA p.W722* WWC3_uc010nds.2_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 722 ovary(4) 4 AGCTGCGCTGGCATTCCGTGC 0.562 PDHA1 5160 broad.mit.edu 37 X 19369427 19369427 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:19369427G>A uc004czg.3 + 4 465 c.320G>A c.(319-321)GGC>GAC p.G107D PDHA1_uc004czh.3_Missense_Mutation_p.G142D|PDHA1_uc011mjc.1_Missense_Mutation_p.G111D|PDHA1_uc011mjd.1_Missense_Mutation_p.G104D|PDHA1_uc010nfk.2_Missense_Mutation_p.G104D NM_000284 NP_000275 P08559 ODPA_HUMAN pyruvate dehydrogenase E1 alpha 1 precursor 107 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity ovary(1) 1 Hepatocellular(33;0.183) NADH(DB00157) CTGGAGGCCGGCATCAACCCC 0.507 CCNB3 85417 broad.mit.edu 37 X 50051674 50051674 + Missense_Mutation SNP G A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:50051674G>A uc004dox.3 + 6 803 c.505G>A c.(505-507)GAA>AAA p.E169K CCNB3_uc004doy.2_Missense_Mutation_p.E169K|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 169 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TATTGAGGATGAAACCCTTAT 0.433 TBX22 50945 broad.mit.edu 37 X 79281244 79281244 + Missense_Mutation SNP C G G TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:79281244C>G uc010nmg.1 + 5 735 c.601C>G c.(601-603)CTC>GTC p.L201V TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 201 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.L201I(1) lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 TCGCATGAAACTCACCAACAA 0.537 ATP11C 286410 broad.mit.edu 37 X 138897124 138897124 + Missense_Mutation SNP T A A TCGA-19-2625-01A-01D-1495-08 TCGA-19-2625-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx b0833912-0cb6-4d2a-bd18-9fc211793b30 4445ea84-ab2f-4906-8ec0-47d0bd5ee63a g.chrX:138897124T>A uc004faz.2 - 5 447 c.348A>T c.(346-348)AGA>AGT p.R116S ATP11C_uc004fba.2_Missense_Mutation_p.R116S NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 116 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) CAGCTCTGTGTCTCAGACAAT 0.303