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 EPHA8 2046 broad.mit.edu 37 1 22927229 22927229 + Missense_Mutation SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:22927229T>C uc001bfx.1 + 14 2589 c.2464T>C c.(2464-2466)TGG>CGG p.W822R NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 822 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGCGACGTGTGGAGCTTCGG 0.657 ABCD3 5825 broad.mit.edu 37 1 94965170 94965170 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:94965170G>A uc001dqn.3 + 20 1842 c.1740G>A c.(1738-1740)GCG>GCA p.A580A ABCD3_uc010oto.1_Silent_p.A604A|ABCD3_uc010otp.1_Silent_p.A507A|ABCD3_uc009wdr.2_Silent_p.A470A|ABCD3_uc001dqo.3_Silent_p.A268A NM_002858 NP_002849 P28288 ABCD3_HUMAN ATP-binding cassette, sub-family D, member 3 580 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances skin(1) 1 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) AAAGAATGGCGGTAAGTATAC 0.418 FCRL5 83416 broad.mit.edu 37 1 157490328 157490328 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:157490328G>A uc001fqu.2 - 12 2683 c.2525C>T c.(2524-2526)GCG>GTG p.A842V FCRL5_uc009wsm.2_Missense_Mutation_p.A842V NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 842 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACTTCTGTTCGCGGTCAGCCC 0.657 SPTA1 6708 broad.mit.edu 37 1 158615013 158615013 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:158615013G>A uc001fst.1 - 29 4358 c.4159C>T c.(4159-4161)CGC>TGC p.R1387C NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1387 Spectrin 13. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ATCTTCTTGCGTTTTTCCCAA 0.433 CFHR4 10877 broad.mit.edu 37 1 196887346 196887346 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:196887346G>T uc001gto.2 + 6 875 c.806G>T c.(805-807)TGT>TTT p.C269F CFHR4_uc009wyy.2_Missense_Mutation_p.C515F|CFHR4_uc001gtp.2_Missense_Mutation_p.C516F NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 269 Sushi 5. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TCAGATCCATGTATAATAACT 0.264 OR2AK2 391191 broad.mit.edu 37 1 248129572 248129572 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:248129572G>A uc010pzd.1 + 1 939 c.939G>A c.(937-939)ACG>ACA p.T313T OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGGAAGTGACGGGGGCAGTGA 0.433 OR2M1P 388762 broad.mit.edu 37 1 248285695 248285695 + Silent SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:248285695A>G uc001idy.1 + 1 258 c.258A>G c.(256-258)ACA>ACG p.T86T NR_002141 RecName: Full=Olfactory receptor 2M5; 0 TGGGCTCTACAGATGGAATCA 0.453 ADARB2 105 broad.mit.edu 37 10 1262895 1262895 + Missense_Mutation SNP C T T rs142663256 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:1262895C>T uc009xhq.2 - 7 2052 c.1678G>A c.(1678-1680)GCC>ACC p.A560T NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 560 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCTCACCTGGCGATCTTGTCC 0.677 GDF10 2662 broad.mit.edu 37 10 48429388 48429388 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:48429388C>T uc001jfb.2 - 2 954 c.498G>A c.(496-498)CCG>CCA p.P166P GDF10_uc009xnp.2_Silent_p.P165P|GDF10_uc009xnq.1_Silent_p.P166P NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 166 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GGCGTGTGGGCGGGCCCAGGG 0.726 MAT1A 4143 broad.mit.edu 37 10 82034333 82034333 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:82034333C>T uc001kbw.2 - 8 1283 c.1028G>A c.(1027-1029)CGA>CAA p.R343Q NM_000429 NP_000420 Q00266 METK1_HUMAN methionine adenosyltransferase I, alpha 343 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity 0 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CAGCAGCTCTCGCTCTGTCTT 0.557 PTEN 5728 broad.mit.edu 37 10 89720670 89720671 + Missense_Mutation DNP GG CT CT TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:89720670_89720671GG>CT uc001kfb.2 + 9 1852_1853 c.821_822GG>CT c.(820-822)TGG>TCT p.W274S NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 274 C2 tensin-type. 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.W274*(6)|p.R55fs*1(4)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.W274G(1)|p.W274_F341del(1)|p.W274R(1)|p.G165_K342del(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) TTTCACTTTTGGGTAAATACAT 0.243 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) AFAP1L2 84632 broad.mit.edu 37 10 116062141 116062141 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:116062141C>T uc001lbn.2 - 12 1688 c.1387G>A c.(1387-1389)GAT>AAT p.D463N AFAP1L2_uc001lbo.2_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.1_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.2_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.2_5'Flank|AFAP1L2_uc010qsd.1_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN KIAA1914 protein isoform 1 463 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding ovary(1)|breast(1) 2 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GAGACCCTATCGGCATCCACA 0.527 C11orf35 256329 broad.mit.edu 37 11 556891 556891 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:556891C>T uc001lpx.2 - 8 983 c.920G>A c.(919-921)CGC>CAC p.R307H uc001lpy.2_5'Flank|uc001lpz.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 307 pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGGAAGCGCGGTGGTCCCG 0.692 OR4A15 81328 broad.mit.edu 37 11 55135749 55135749 + Silent SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55135749T>C uc010rif.1 + 1 390 c.390T>C c.(388-390)TTT>TTC p.F130F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 130 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTCAACTTTTTATGGATCATT 0.403 OR5D16 390144 broad.mit.edu 37 11 55606949 55606950 + Frame_Shift_Ins INS - CACCT CACCT TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55606949_55606950insCACCT uc010rio.1 + 1 722_723 c.722_723insCACCT c.(721-723)TCCfs p.S241fs NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) AAAGTCTTCTCCACCTGTGCCT 0.490 OR7E5P 219445 broad.mit.edu 37 11 55747391 55747391 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55747391G>A uc010riu.1 - 4 621 c.66C>T c.(64-66)CTC>CTT p.L22L NR_027688 SubName: Full=HCG2036849; SubName: Full=Seven transmembrane helix receptor; 0 TGGGGGTGTCGAGGTGGGAGT 0.572 OR8H2 390151 broad.mit.edu 37 11 55873210 55873210 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55873210C>T uc010riy.1 + 1 692 c.692C>T c.(691-693)ACT>ATT p.T231I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Esophageal squamous(21;0.00693) ATTAATTCCACTTCAGGAAAG 0.373 HNSCC(53;0.14) ZP1 22917 broad.mit.edu 37 11 60637220 60637220 + Missense_Mutation SNP C G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:60637220C>G uc001nqd.2 + 3 549 c.529C>G c.(529-531)CAT>GAT p.H177D ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 177 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 AGGCTCTGGCCATGCCTTTCC 0.627 FTH1 2495 broad.mit.edu 37 11 61732280 61732280 + Silent SNP G C C rs11554851 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:61732280G>C uc001nsu.2 - 4 706 c.471C>G c.(469-471)CGC>CGG p.R157R NM_002032 NP_002023 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 157 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding ovary(1) 1 Iron Dextran(DB00893) CTCCCATCTTGCGCAAGTTGG 0.493 PGR 5241 broad.mit.edu 37 11 100933263 100933263 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:100933263G>T uc001pgh.2 - 4 2870 c.2127C>A c.(2125-2127)GAC>GAA p.D709E PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 709 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AACTGGAGGTGTCAGGTTTTG 0.408 CDCA3 83461 broad.mit.edu 37 12 6959664 6959664 + Missense_Mutation SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:6959664T>C uc001qrg.2 - 3 345 c.217A>G c.(217-219)ATT>GTT p.I73V CDCA3_uc001qre.2_Missense_Mutation_p.I73V|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN cell division cycle associated 3 73 cell division|mitosis cytosol 0 GTCCGTGCAATACCAAGAGTA 0.547 ABCC9 10060 broad.mit.edu 37 12 21960380 21960380 + Missense_Mutation SNP C G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21960380C>G uc001rfi.1 - 36 4369 c.4349G>C c.(4348-4350)AGC>ACC p.S1450T ABCC9_uc001rfh.2_Missense_Mutation_p.S1450T|ABCC9_uc001rfj.1_Missense_Mutation_p.S1414T|ABCC9_uc001rfg.2_5'UTR NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1450 Cytoplasmic (Potential).|ABC transporter 2. 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) CTGTCCAACGCTAAAATTCTC 0.433 ABCC9 10060 broad.mit.edu 37 12 21968784 21968784 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21968784G>C uc001rfi.1 - 32 3956 c.3936C>G c.(3934-3936)ATC>ATG p.I1312M ABCC9_uc001rfh.2_Missense_Mutation_p.I1312M|ABCC9_uc001rfj.1_Missense_Mutation_p.I1276M NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1312 Cytoplasmic (Potential).|ABC transporter 2. 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) CATGTATCTTGATCTCCCCTT 0.403 ABCC9 10060 broad.mit.edu 37 12 21970190 21970190 + Nonsense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21970190G>A uc001rfi.1 - 31 3843 c.3823C>T c.(3823-3825)CAG>TAG p.Q1275* ABCC9_uc001rfh.2_Nonsense_Mutation_p.Q1275*|ABCC9_uc001rfj.1_Nonsense_Mutation_p.Q1239* NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1275 Cytoplasmic (Potential). 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) GCACCCATCTGGACCTCCAGG 0.368 ABCC9 10060 broad.mit.edu 37 12 21981913 21981913 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21981913G>T uc001rfi.1 - 29 3668 c.3648C>A c.(3646-3648)AAC>AAA p.N1216K ABCC9_uc001rfh.2_Missense_Mutation_p.N1216K|ABCC9_uc001rfj.1_Missense_Mutation_p.N1180K NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1216 Extracellular (Potential).|ABC transmembrane type-1 2. 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) CCAGCCATCTGTTGGCAGCTG 0.423 OR6C6 283365 broad.mit.edu 37 12 55688288 55688288 + Missense_Mutation SNP C G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:55688288C>G uc010sph.1 - 1 729 c.729G>C c.(727-729)ATG>ATC p.M243I NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 243 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 AGACAACAATCATGTGGGAAG 0.368 NUP107 57122 broad.mit.edu 37 12 69115670 69115670 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:69115670G>A uc001suf.2 + 16 1476 c.1361G>A c.(1360-1362)CGG>CAG p.R454Q NUP107_uc001sug.2_Missense_Mutation_p.R301Q|NUP107_uc010stj.1_Missense_Mutation_p.R425Q NM_020401 NP_065134 P57740 NU107_HUMAN nucleoporin 107kDa 454 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) GCCTACTTCCGGGTGATGGTG 0.448 FLT3 2322 broad.mit.edu 37 13 28636174 28636174 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr13:28636174C>T uc001urw.2 - 3 280 c.198G>A c.(196-198)GCG>GCA p.A66A FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Silent_p.A66A NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 66 Extracellular (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.599_560>LTGSSDNEYFYVDFREYEY(1) haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GGGGTCTCAACGCACACCCGA 0.537 Mis|O AML|ALL RNASE11 122651 broad.mit.edu 37 14 21052270 21052270 + Missense_Mutation SNP G A A rs144501463 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:21052270G>A uc010ahv.2 - 2 549 c.364C>T c.(364-366)CGC>TGC p.R122C RNASE11_uc010ahx.2_Missense_Mutation_p.R122C|RNASE11_uc010ahw.2_Missense_Mutation_p.R122C|RNASE11_uc001vxs.2_Missense_Mutation_p.R122C NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 122 extracellular region nucleic acid binding|pancreatic ribonuclease activity ovary(3) 3 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GTGGAGCTGCGGATGAAGTTA 0.488 GALNTL1 57452 broad.mit.edu 37 14 69795188 69795188 + Missense_Mutation SNP G A A rs61748871 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:69795188G>A uc010aqu.1 + 6 683 c.590G>A c.(589-591)CGT>CAT p.R197H GALNTL1_uc001xla.1_Missense_Mutation_p.R197H|GALNTL1_uc001xlb.1_Missense_Mutation_p.R197H NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 197 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) TCCCGAGTGCGTGGGGCGGAC 0.632 FBLN5 10516 broad.mit.edu 37 14 92343924 92343924 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:92343924G>A uc001xzx.3 - 10 1565 c.1092C>T c.(1090-1092)GAC>GAT p.D364D FBLN5_uc010aud.2_Silent_p.D369D|FBLN5_uc010aue.2_Silent_p.D405D|FBLN5_uc001xzw.2_5'Flank NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN fibulin 5 precursor 364 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 6 all_cancers(154;0.0722) TTTGGAAGATGTCAGCGGGAA 0.537 PAPOLA 10914 broad.mit.edu 37 14 96991694 96991694 + Silent SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:96991694A>G uc001yfq.2 + 4 507 c.297A>G c.(295-297)ACA>ACG p.T99T PAPOLA_uc001yfo.2_Silent_p.T99T|PAPOLA_uc001yfp.2_Silent_p.T99T|PAPOLA_uc001yfr.2_Silent_p.T99T|PAPOLA_uc010twv.1_Silent_p.T99T|PAPOLA_uc010avp.2_5'UTR NM_032632 NP_116021 P51003 PAPOA_HUMAN poly(A) polymerase alpha 99 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding 0 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AAATTTTTACATTTGGATCTT 0.323 KIF26A 26153 broad.mit.edu 37 14 104642036 104642036 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:104642036G>T uc001yos.3 + 12 2911 c.2911G>T c.(2911-2913)GGG>TGG p.G971W NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 971 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCCTGGGGGAGGGGGCACTGA 0.701 TUBGCP5 114791 broad.mit.edu 37 15 22868917 22868917 + Missense_Mutation SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:22868917A>G uc001yur.3 + 20 2919 c.2789A>G c.(2788-2790)CAC>CGC p.H930R TUBGCP5_uc001yuq.2_Missense_Mutation_p.H930R NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 930 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ATTAAAATTCACTATAGGTAT 0.453 C15orf2 23742 broad.mit.edu 37 15 24922713 24922713 + Missense_Mutation SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:24922713T>C uc001ywo.2 + 1 2173 c.1699T>C c.(1699-1701)TCA>CCA p.S567P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 567 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCACCTAACCTCACAGACTGC 0.488 RPAP1 26015 broad.mit.edu 37 15 41810311 41810311 + Missense_Mutation SNP G A A rs141969064 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:41810311G>A uc001zod.2 - 23 3989 c.3865C>T c.(3865-3867)CGG>TGG p.R1289W RPAP1_uc001zoc.2_Missense_Mutation_p.R308W NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1289 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) ACCAGGGTCCGGAAGTAGAGC 0.582 DUOX2 50506 broad.mit.edu 37 15 45387648 45387648 + Missense_Mutation SNP A C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:45387648A>C uc010bea.2 - 31 4429 c.4226T>G c.(4225-4227)ATG>AGG p.M1409R DUOX2_uc001zun.2_Missense_Mutation_p.M1409R NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 1409 Cytoplasmic (Potential). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTTACACAGCATTTGGCTGCC 0.532 ZNF263 10127 broad.mit.edu 37 16 3339694 3339694 + Missense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr16:3339694C>A uc002cuq.2 + 6 1520 c.1188C>A c.(1186-1188)CAC>CAA p.H396Q ZNF263_uc010uww.1_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 396 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 TAATTAGGCACCAGAGAATAC 0.478 ATF7IP2 80063 broad.mit.edu 37 16 10525310 10525310 + Missense_Mutation SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr16:10525310A>G uc002czu.2 + 3 1060 c.833A>G c.(832-834)AAC>AGC p.N278S ATF7IP2_uc002czv.2_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.N278S|ATF7IP2_uc010uyq.1_RNA NM_024997 NP_079273 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 ACTAATAACAACAGTAAGTAT 0.313 AQP8 343 broad.mit.edu 37 16 25232824 25232824 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr16:25232824G>A uc002doc.2 + 3 389 c.307G>A c.(307-309)GGA>AGA p.G103R NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 103 Helical; (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) CATGCTGATCGGAGGCCTCAA 0.627 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:7577114C>T uc002gim.2 - 8 1018 c.824G>A c.(823-825)TGT>TAT p.C275Y TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 275 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in 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.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(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) AGGACAGGCACAAACACGCAC 0.552 111 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 7577610 7577610 + Splice_Site SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:7577610T>C uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.2_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(22)|p.0?(7)|p.V225fs*24(1)|p.E224_V225insXX(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) AGAGCCAACCTAGGAGATAAC 0.483 111 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) CCDC42 146849 broad.mit.edu 37 17 8644917 8644917 + Nonsense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:8644917G>A uc002gln.2 - 4 594 c.367C>T c.(367-369)CAG>TAG p.Q123* CCDC42_uc002glo.2_Nonsense_Mutation_p.Q123* NM_144681 NP_653282 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 isoform 1 123 Potential. ovary(1) 1 GTCAGCTCCTGCATGTGCTGG 0.602 DNAH9 1770 broad.mit.edu 37 17 11568211 11568211 + Missense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:11568211C>A uc002gne.2 + 15 2725 c.2657C>A c.(2656-2658)TCT>TAT p.S886Y DNAH9_uc010coo.2_Missense_Mutation_p.S180Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 886 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TATGTTAACTCTATTGACAAT 0.383 DHX58 79132 broad.mit.edu 37 17 40263362 40263362 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:40263362G>T uc002hyw.3 - 4 545 c.322C>A c.(322-324)CAG>AAG p.Q108K DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K NM_024119 NP_077024 Q96C10 DHX58_HUMAN RNA helicase LGP2 108 Helicase ATP-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding 0 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTGCCATCTGCAGAAGCTCT 0.622 HEATR6 63897 broad.mit.edu 37 17 58137429 58137429 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:58137429G>C uc002iyk.1 - 10 1462 c.1445C>G c.(1444-1446)TCT>TGT p.S482C HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 482 HEAT 2. binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CAAGATGGCAGATAAAACTTG 0.433 KCNJ16 3773 broad.mit.edu 37 17 68128948 68128948 + Missense_Mutation SNP A T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:68128948A>T uc002jin.2 + 5 1206 c.720A>T c.(718-720)TTA>TTT p.L240F KCNJ16_uc002jio.2_Missense_Mutation_p.L240F|KCNJ16_uc002jip.2_Missense_Mutation_p.L240F|KCNJ16_uc002jiq.2_Missense_Mutation_p.L272F NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 240 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) ACCTCAAATTAGTCAACGACC 0.483 SMCHD1 23347 broad.mit.edu 37 18 2688412 2688412 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr18:2688412G>A uc002klm.3 + 6 848 c.659G>A c.(658-660)CGT>CAT p.R220H NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 220 chromosome organization ATP binding 0 GGATATGTTCGTCCAGTACCA 0.368 DSG4 147409 broad.mit.edu 37 18 28993484 28993484 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr18:28993484G>A uc002kwq.2 + 16 3184 c.3049G>A c.(3049-3051)GTT>ATT p.V1017I DSG4_uc002kwr.2_Missense_Mutation_p.V1036I NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 1017 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGCCAAACCGTTGGCTCCAC 0.453 CDH19 28513 broad.mit.edu 37 18 64218401 64218401 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr18:64218401C>T uc002lkc.1 - 5 843 c.705G>A c.(703-705)GCG>GCA p.A235A CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.2_Silent_p.A235A NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 235 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) TTCCAGACAACGCTCCTGGCT 0.328 FBN3 84467 broad.mit.edu 37 19 8191373 8191373 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr19:8191373G>C uc002mjf.2 - 19 2554 c.2533C>G c.(2533-2535)CCC>GCC p.P845A NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 845 TB 4. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CGTTCGCAGGGGCTCCCCCAG 0.667 TNPO2 30000 broad.mit.edu 37 19 12825902 12825902 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr19:12825902G>A uc002muo.2 - 8 915 c.730C>T c.(730-732)CGG>TGG p.R244W TNPO2_uc002mup.2_Missense_Mutation_p.R336W|TNPO2_uc002muq.2_Missense_Mutation_p.R244W|TNPO2_uc002mur.2_Missense_Mutation_p.R244W NM_001136196 NP_001129668 O14787 TNPO2_HUMAN transportin 2 (importin 3, karyopherin beta 2b) 244 HEAT 3. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity ovary(1) 1 CTGTCAATCCGCACTTCCAGA 0.632 ZNF17 7565 broad.mit.edu 37 19 57931383 57931383 + Missense_Mutation SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr19:57931383A>G uc002qoo.1 + 3 754 c.523A>G c.(523-525)AGG>GGG p.R175G ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.R177G NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) GAAGCCACACAGGGACACTCA 0.488 ALLC 55821 broad.mit.edu 37 2 3727515 3727515 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:3727515G>A uc010ewt.2 + 5 390 c.229G>A c.(229-231)GTG>ATG p.V77M NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 96 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGGCTTCGACGTGGACGTTTC 0.547 HNSCC(21;0.051) RAD51AP2 729475 broad.mit.edu 37 2 17696534 17696534 + Missense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:17696534C>A uc002rcl.1 - 1 3173 c.3149G>T c.(3148-3150)TGG>TTG p.W1050L RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1050 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TACAGTTTTCCATTTAAATAA 0.368 MSH6 2956 broad.mit.edu 37 2 48026087 48026087 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:48026087C>T uc002rwd.3 + 4 1117 c.965C>T c.(964-966)GCC>GTC p.A322V MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.2_Missense_Mutation_p.A20V|MSH6_uc010yoi.1_Missense_Mutation_p.A192V|MSH6_uc010yoj.1_Missense_Mutation_p.A20V NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 322 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACGCCCTCAGCCACCAAACAA 0.473 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome TSGA10 80705 broad.mit.edu 37 2 99634812 99634812 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:99634812C>T uc002szg.3 - 18 2551 c.1923G>A c.(1921-1923)AGG>AGA p.R641R TSGA10_uc002szh.3_Silent_p.R641R|TSGA10_uc002szi.3_Silent_p.R641R|TSGA10_uc010fin.1_Silent_p.R641R NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN testis specific, 10 641 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane ovary(1)|central_nervous_system(1) 2 CGGCCCTCTCCCTAAAGCAAA 0.323 IL1R1 3554 broad.mit.edu 37 2 102789175 102789175 + Missense_Mutation SNP A T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:102789175A>T uc002tbq.2 + 9 1186 c.868A>T c.(868-870)AGT>TGT p.S290C IL1R1_uc010fix.2_Missense_Mutation_p.S290C|IL1R1_uc002tbp.2_Missense_Mutation_p.S290C|IL1R1_uc002tbr.2_Missense_Mutation_p.S290C NM_000877 NP_000868 P14778 IL1R1_HUMAN interleukin 1 receptor, type I precursor 290 Ig-like C2-type 3.|Extracellular (Potential). innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding skin(1) 1 Anakinra(DB00026) CAAAAGAAGGAGTACCCTCAT 0.348 SLC9A4 389015 broad.mit.edu 37 2 103141556 103141556 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:103141556G>A uc002tbz.3 + 10 2349 c.1892G>A c.(1891-1893)CGC>CAC p.R631H NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 631 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 CTGATCCGCCGCCAGAACACC 0.507 XIRP2 129446 broad.mit.edu 37 2 168103543 168103543 + Nonsense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:168103543C>T uc002udx.2 + 8 5659 c.5641C>T c.(5641-5643)CGA>TGA p.R1881* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1706 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ATCAAGCCATCGATGGAAAGA 0.378 TTN 7273 broad.mit.edu 37 2 179431526 179431526 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:179431526G>A uc010zfg.1 - 275 71853 c.71629C>T c.(71629-71631)CGT>TGT p.R23877C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R17572C|TTN_uc010zfi.1_Missense_Mutation_p.R17505C|TTN_uc010zfj.1_Missense_Mutation_p.R17380C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24804 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCTTAGACGCAAATCTGTA 0.408 ANGPT4 51378 broad.mit.edu 37 20 870858 870858 + Nonsense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr20:870858G>A uc002wei.2 - 2 566 c.463C>T c.(463-465)CAG>TAG p.Q155* ANGPT4_uc010zpn.1_Nonsense_Mutation_p.Q149* NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 155 Potential. 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 TCTGTTACCTGAGCCTCCATG 0.607 SIRPA 140885 broad.mit.edu 37 20 1915375 1915375 + Missense_Mutation SNP A T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr20:1915375A>T uc002wfq.2 + 8 1601 c.1241A>T c.(1240-1242)GAG>GTG p.E414V SIRPA_uc010zps.1_Missense_Mutation_p.E394V|SIRPA_uc002wfr.2_Missense_Mutation_p.E414V|SIRPA_uc002wfs.2_Missense_Mutation_p.E414V|SIRPA_uc002wft.2_Missense_Mutation_p.E414V NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 414 Cytoplasmic (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATGAGCCCGAGAAGAATGCC 0.338 PTPRT 11122 broad.mit.edu 37 20 41385120 41385120 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr20:41385120C>T uc002xkg.2 - 6 1025 c.841G>A c.(841-843)GCG>ACG p.A281T PTPRT_uc010ggj.2_Missense_Mutation_p.A281T NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 281 Extracellular (Potential).|Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATCAGCTCCGCGTAGTTGGAC 0.567 TRIM71 131405 broad.mit.edu 37 3 32932739 32932739 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:32932739G>A uc003cff.2 + 4 2106 c.2043G>A c.(2041-2043)ACG>ACA p.T681T NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN tripartite motif-containing 71 681 NHL 2. multicellular organismal development cytoplasm zinc ion binding ovary(2)|large_intestine(1) 3 AGATCTTCACGTTCGAGGGCC 0.582 AMIGO3 386724 broad.mit.edu 37 3 49756785 49756785 + Silent SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:49756785A>G uc003cxj.2 - 1 454 c.114T>C c.(112-114)TGT>TGC p.C38C RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 38 Extracellular (Potential).|LRRNT. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGCAGATACATTTGTAGG 0.647 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HTR1F 3355 broad.mit.edu 37 3 88040099 88040099 + Missense_Mutation SNP T A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:88040099T>A uc003dqr.2 + 2 358 c.200T>A c.(199-201)GTC>GAC p.V67D NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 67 Helical; Name=2; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TCCCTTGCAGTCACAGATTTT 0.463 FAM55C 91775 broad.mit.edu 37 3 101520152 101520152 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:101520152G>A uc003dvn.2 + 5 804 c.167G>A c.(166-168)GGA>GAA p.G56E FAM55C_uc010hpn.2_Missense_Mutation_p.G56E NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 56 extracellular region ovary(1)|pancreas(1)|skin(1) 3 CAGGTGACAGGAATTAGCCGA 0.522 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G A A rs104886003 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) GABRB1 2560 broad.mit.edu 37 4 47322182 47322182 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:47322182G>T uc003gxh.2 + 5 874 c.500G>T c.(499-501)AGA>ATA p.R167I GABRB1_uc011bze.1_Missense_Mutation_p.R97I NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 167 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GATCTTCGAAGATATCCATTG 0.418 HPSE 10855 broad.mit.edu 37 4 84216623 84216623 + Missense_Mutation SNP C G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:84216623C>G uc003hoj.3 - 12 1605 c.1506G>C c.(1504-1506)ATG>ATC p.M502I uc003hoi.2_5'Flank|HPSE_uc010ika.2_Missense_Mutation_p.M444I|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.M245I|HPSE_uc011cct.1_Missense_Mutation_p.M428I|HPSE_uc003hok.3_Missense_Mutation_p.M502I NM_001098540 NP_001092010 Q9Y251 HPSE_HUMAN heparanase precursor 502 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding ovary(1) 1 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) GATCATCCACCATCTTTAGAG 0.443 LRIT3 345193 broad.mit.edu 37 4 110791269 110791269 + Missense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:110791269C>A uc003hzx.3 + 3 1422 c.1229C>A c.(1228-1230)GCA>GAA p.A410E LRIT3_uc003hzw.3_Missense_Mutation_p.A272E NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 410 integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TTAAAGGTGGCAAAGAATGGA 0.453 MYOZ2 51778 broad.mit.edu 37 4 120072132 120072132 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:120072132G>A uc003icp.3 + 3 395 c.182G>A c.(181-183)CGT>CAT p.R61H NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 61 protein phosphatase 2B binding 0 TTTAAGATGCGTCAAAGAAGA 0.398 FSTL5 56884 broad.mit.edu 37 4 162577565 162577565 + Missense_Mutation SNP C G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:162577565C>G uc003iqh.2 - 7 1245 c.809G>C c.(808-810)TGT>TCT p.C270S FSTL5_uc003iqi.2_Missense_Mutation_p.C269S|FSTL5_uc010iqv.2_Missense_Mutation_p.C269S NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 270 Ig-like 1. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGAATGGCACAGCTCAGAAC 0.393 OSMR 9180 broad.mit.edu 37 5 38904563 38904563 + Missense_Mutation SNP T A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:38904563T>A uc003jln.1 + 9 1610 c.1243T>A c.(1243-1245)TGG>AGG p.W415R NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 415 WSXWS motif.|Fibronectin type-III 1.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) CTTCTGGAAATGGAGTGAATG 0.488 COX7C 1350 broad.mit.edu 37 5 85915176 85915176 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:85915176C>T uc003kir.2 + 2 171 c.82C>T c.(82-84)CCA>TCA p.P28S NM_001867 NP_001858 P15954 COX7C_HUMAN cytochrome c oxidase subunit VIIc precursor 28 Mitochondrial matrix (By similarity). respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity 0 all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29) ACAGAATTTGCCATTTTCAGT 0.338 PCDHA12 56137 broad.mit.edu 37 5 140255258 140255258 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:140255258G>A uc003lic.2 + 1 328 c.201G>A c.(199-201)GCG>GCA p.A67A 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_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.A67A NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 67 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGTGGCGTCCAAAAGAC 0.632 SH3RF2 153769 broad.mit.edu 37 5 145393533 145393533 + Missense_Mutation SNP T G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:145393533T>G uc003lnt.2 + 5 1206 c.968T>G c.(967-969)ATC>AGC p.I323S SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 323 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGGTAGAGATCAGCACCCCA 0.567 ITPR3 3710 broad.mit.edu 37 6 33644615 33644615 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:33644615G>A uc011drk.1 + 26 3572 c.3353G>A c.(3352-3354)CGG>CAG p.R1118Q NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 1118 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 GACCGGCTGCGGACCATGGTG 0.597 KCNK16 83795 broad.mit.edu 37 6 39282798 39282814 + Frame_Shift_Del DEL TGGATATGGGGAAGTCC - - rs11756091 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:39282798_39282814delTGGATATGGGGAAGTCC uc003ooq.2 - 6 908_924 c.894_910delGGACTTCCCCATATCCA c.(892-912)CAGGACTTCCCCATATCCAAGfs p.Q298fs KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_3'UTR|KCNK16_uc010jwy.2_Frame_Shift_Del_p.Q251fs NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 298_304 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA 0.590 CUL9 23113 broad.mit.edu 37 6 43164484 43164484 + Missense_Mutation SNP C A A rs142672693 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:43164484C>A uc003ouk.2 + 11 2762 c.2687C>A c.(2686-2688)ACG>AAG p.T896K CUL9_uc003oul.2_Missense_Mutation_p.T896K|CUL9_uc010jyk.2_Missense_Mutation_p.T48K NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 896 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 CTGAGAGACACGTTGTTTAGG 0.517 ABCC10 89845 broad.mit.edu 37 6 43413522 43413522 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:43413522G>A uc003ouy.1 + 15 3431 c.3216G>A c.(3214-3216)CCG>CCA p.P1072P ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P NM_033450 NP_258261 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C, member 10 1072 ABC transmembrane type-1 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(6)|central_nervous_system(1) 7 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) TCCTGCTGCCGCCTTTGAGCA 0.662 GCM1 8521 broad.mit.edu 37 6 52993580 52993580 + Silent SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:52993580T>C uc003pbp.2 - 6 944 c.735A>G c.(733-735)GGA>GGG p.G245G NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 245 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) CTGTGATTCCTCCCAGACCAT 0.453 LGSN 51557 broad.mit.edu 37 6 63990360 63990360 + Nonsense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:63990360G>A uc003peh.2 - 4 1130 c.1096C>T c.(1096-1098)CGA>TGA p.R366* LGSN_uc003pei.2_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 366 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) TAACGCTTTCGGCAGCTAACA 0.478 PHF3 23469 broad.mit.edu 37 6 64422167 64422167 + Silent SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:64422167A>G uc003pep.1 + 15 4709 c.4683A>G c.(4681-4683)AGA>AGG p.R1561R PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1561 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) TTAGTCTCAGAGGTAAGCCAC 0.353 SEC63 11231 broad.mit.edu 37 6 108250659 108250659 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:108250659G>A uc003psc.3 - 2 453 c.184C>T c.(184-186)CGG>TGG p.R62W NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN SEC63-like protein 62 Cytoplasmic (Potential). protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding ovary(1)|skin(1) 2 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTAATAACCGTAAACGATAC 0.299 SLC22A2 6582 broad.mit.edu 37 6 160663362 160663362 + Missense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:160663362C>A uc003qtf.2 - 8 1522 c.1352G>T c.(1351-1353)TGC>TTC p.C451F SLC22A2_uc003qte.1_Missense_Mutation_p.C451F NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 451 Helical; (Potential). Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) ATTGACCAGGCAGACTATCTC 0.438 DGKB 1607 broad.mit.edu 37 7 14733777 14733777 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:14733777C>T uc003ssz.2 - 8 821 c.634G>A c.(634-636)GGA>AGA p.G212R DGKB_uc011jxt.1_Missense_Mutation_p.G205R|DGKB_uc003sta.2_Missense_Mutation_p.G212R|DGKB_uc011jxu.1_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 212 EF-hand 2.|2 (Potential). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) GACACGGTTCCATCATGATCA 0.418 TRA2A 29896 broad.mit.edu 37 7 23552560 23552560 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:23552560G>C uc003swi.2 - 4 692 c.478C>G c.(478-480)CGA>GGA p.R160G TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R59G|TRA2A_uc011jzd.1_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_RNA NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 160 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 GCAAATCCTCGAGATCGCCCA 0.378 GHRHR 2692 broad.mit.edu 37 7 31009513 31009513 + Silent SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:31009513C>A uc003tbx.2 + 4 348 c.300C>A c.(298-300)GGC>GGA p.G100G GHRHR_uc003tbw.1_Silent_p.G100G|GHRHR_uc003tby.2_Silent_p.G36G|GHRHR_uc003tbz.2_Translation_Start_Site NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 100 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) CTATCACTGGCTGGTCTGAGC 0.582 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C A A rs149840192 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:55221822C>A uc003tqk.2 + 7 1112 c.866C>A c.(865-867)GCC>GAC p.A289D EGFR_uc003tqh.2_Missense_Mutation_p.A289D|EGFR_uc003tqi.2_Missense_Mutation_p.A289D|EGFR_uc003tqj.2_Missense_Mutation_p.A289D|EGFR_uc010kzg.1_Missense_Mutation_p.A244D|EGFR_uc011kco.1_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). 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.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) 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) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82474620 82474620 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:82474620G>A uc003uhx.2 - 13 14302 c.14013C>T c.(14011-14013)CCC>CCT p.P4671P PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 4559 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGCTCACTGAGGGGGACCCTG 0.488 STEAP4 79689 broad.mit.edu 37 7 87913202 87913202 + Missense_Mutation SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:87913202G>A uc003ujs.2 - 2 488 c.383C>T c.(382-384)GCC>GTC p.A128V STEAP4_uc010lek.2_Missense_Mutation_p.A128V|STEAP4_uc003ujt.2_Missense_Mutation_p.A128V NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 128 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) TACCACGTGGGCTCCTGGCAC 0.428 ZNF655 79027 broad.mit.edu 37 7 99170930 99170930 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:99170930G>T uc003urh.2 + 3 1592 c.1199G>T c.(1198-1200)AGA>ATA p.R400I ZNF655_uc010lga.2_Missense_Mutation_p.R435I|ZNF655_uc010lgc.2_Missense_Mutation_p.R435I|ZNF655_uc003urj.2_Missense_Mutation_p.R400I|ZNF655_uc003urk.2_Missense_Mutation_p.R237I|ZNF655_uc010lgd.2_Missense_Mutation_p.R237I NM_138494 NP_612503 Q8N720 ZN655_HUMAN zinc finger protein 655 isoform a 400 C2H2-type 5. 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) CAGCATCAAAGAATTCACACA 0.353 RELN 5649 broad.mit.edu 37 7 103368622 103368622 + Missense_Mutation SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:103368622T>C uc003vca.2 - 7 849 c.689A>G c.(688-690)CAG>CGG p.Q230R RELN_uc010liz.2_Missense_Mutation_p.Q230R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 230 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGCGCCACACTGTTCTCCAGT 0.458 TAS2R16 50833 broad.mit.edu 37 7 122635067 122635067 + Missense_Mutation SNP G T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:122635067G>T uc003vkl.1 - 1 688 c.622C>A c.(622-624)CAA>AAA p.Q208K NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 208 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 CTATGATGTTGTATCTGCTTG 0.463 TRPV6 55503 broad.mit.edu 37 7 142575732 142575732 + Missense_Mutation SNP T C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:142575732T>C uc003wbx.1 - 2 392 c.176A>G c.(175-177)CAG>CGG p.Q59R TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 59 ANK 1.|Cytoplasmic (Potential). regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) GTTCAGGGCCTGGACATCATT 0.493 DCTN6 10671 broad.mit.edu 37 8 30040689 30040689 + Nonstop_Mutation SNP A C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:30040689A>C uc003xhy.2 + 7 660 c.573A>C c.(571-573)TAA>TAC p.*191Y NM_006571 NP_006562 O00399 DCTN6_HUMAN dynactin 6 191 centrosome transferase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) TAAAGAACTAAGAACAGTGTA 0.378 PLEKHA2 59339 broad.mit.edu 37 8 38826181 38826181 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:38826181C>T uc003xmi.3 + 11 1143 c.909C>T c.(907-909)CAC>CAT p.H303H PLEKHA2_uc011lce.1_Silent_p.H253H NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN pleckstrin homology domain containing, family A 303 positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding 0 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) TCAAGTGCCACCCCAGAGTAA 0.498 ANK1 286 broad.mit.edu 37 8 41543721 41543721 + Missense_Mutation SNP T A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:41543721T>A uc003xok.2 - 36 4423 c.4339A>T c.(4339-4341)AGT>TGT p.S1447C NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.S763C|ANK1_uc003xoi.2_Missense_Mutation_p.S1447C|ANK1_uc003xoj.2_Missense_Mutation_p.S1447C|ANK1_uc003xol.2_Missense_Mutation_p.S1447C|ANK1_uc003xom.2_Missense_Mutation_p.S1488C NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1447 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AAGGCCACACTCTGCTCCAAC 0.557 IL7 3574 broad.mit.edu 37 8 79645969 79645969 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:79645969C>T uc003ybg.2 - 6 1114 c.513G>A c.(511-513)TTG>TTA p.L171L IL7_uc003ybe.2_Silent_p.L86L|IL7_uc011lfm.1_RNA|IL7_uc003ybh.2_RNA|IL7_uc003ybi.3_RNA NM_000880 NP_000871 P13232 IL7_HUMAN interleukin 7 precursor 171 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding 0 TAGTGCCCATCAAAATTTTAT 0.323 RGS22 26166 broad.mit.edu 37 8 101016271 101016271 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:101016271C>T uc003yjb.1 - 17 2705 c.2510G>A c.(2509-2511)CGA>CAA p.R837Q RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 837 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATATTCTGTTCGTTTAGAGAC 0.353 SMARCA2 6595 broad.mit.edu 37 9 2029232 2029232 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:2029232G>C uc003zhc.2 + 2 309 c.210G>C c.(208-210)ATG>ATC p.M70I SMARCA2_uc003zhd.2_Missense_Mutation_p.M70I|SMARCA2_uc010mha.2_Missense_Mutation_p.M61I NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 70 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGGAAGGCATGCATCAAATGC 0.493 IL33 90865 broad.mit.edu 37 9 6251142 6251142 + Missense_Mutation SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:6251142A>G uc003zjt.2 + 4 277 c.220A>G c.(220-222)AGA>GGA p.R74G IL33_uc011lmg.1_Missense_Mutation_p.R74G|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.R74G NM_033439 NP_254274 O95760 IL33_HUMAN interleukin 33 precursor 74 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity 0 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) GTCTGCAGGTAGAAAGCACAA 0.493 ZNF484 83744 broad.mit.edu 37 9 95610513 95610513 + Nonsense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:95610513C>A uc004asu.1 - 5 705 c.556G>T c.(556-558)GAG>TAG p.E186* ANKRD19_uc004asr.3_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150* NM_031486 NP_113674 Q5JVG2 ZN484_HUMAN zinc finger protein 484 isoform a 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGATAGGCTCCAAATTCTTT 0.343 ZNF462 58499 broad.mit.edu 37 9 109687562 109687562 + Missense_Mutation SNP C G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:109687562C>G uc004bcz.2 + 3 1658 c.1369C>G c.(1369-1371)CAC>GAC p.H457D ZNF462_uc010mto.2_Missense_Mutation_p.H305D|ZNF462_uc004bda.2_Missense_Mutation_p.H305D NM_021224 NP_067047 Q96JM2 ZN462_HUMAN zinc finger protein 462 457 C2H2-type 4. transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 CATCTCTCGTCACATAGAAAA 0.438 FAM129B 64855 broad.mit.edu 37 9 130289580 130289580 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:130289580C>T uc004brh.2 - 3 410 c.208G>A c.(208-210)GTC>ATC p.V70I FAM129B_uc004bri.2_Missense_Mutation_p.V57I|FAM129B_uc004brj.3_Missense_Mutation_p.V70I NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 70 PH. protein binding 0 CCCGAGAAGACGATGCGCTCG 0.637 PAEP 5047 broad.mit.edu 37 9 138453719 138453719 + Silent SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:138453719C>A uc004cge.1 + 1 116 c.72C>A c.(70-72)ACC>ACA p.T24T PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010naz.2_RNA|PAEP_uc010nay.2_Silent_p.T24T|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc010nbc.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T NM_001018049 NP_001018059 P09466 PAEP_HUMAN glycodelin precursor 24 multicellular organismal development extracellular region binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) TCCCCCAGACCAAGCAGGACC 0.682 MXRA5 25878 broad.mit.edu 37 X 3235331 3235331 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:3235331C>T uc004crg.3 - 6 6548 c.6391G>A c.(6391-6393)GCG>ACG p.A2131T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2131 Ig-like C2-type 5. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTCCTGCGCGCGGAGCCTACC 0.662 MAGEB6 158809 broad.mit.edu 37 X 26212996 26212996 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:26212996C>T uc004dbr.2 + 2 1182 c.1033C>T c.(1033-1035)CGG>TGG p.R345W MAGEB6_uc010ngc.1_Missense_Mutation_p.R125W NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 345 MAGE. ovary(3) 3 CGTGGTTTACCGGCAGGTGTG 0.498 USP9X 8239 broad.mit.edu 37 X 41075579 41075579 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:41075579G>C uc004dfb.2 + 35 6392 c.5759G>C c.(5758-5760)TGT>TCT p.C1920S USP9X_uc004dfc.2_Missense_Mutation_p.C1920S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1920 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 AAAAACCAGTGTTTTGGTGGA 0.388 SLC9A7 84679 broad.mit.edu 37 X 46491045 46491047 + In_Frame_Del DEL GTT - - TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:46491045_46491047delGTT uc004dgu.1 - 14 1719_1721 c.1711_1713delAAC c.(1711-1713)AACdel p.N571del NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 571 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 GAAAGCTGTCGTTGTTGGGTGGT 0.384 Unknown 0 broad.mit.edu 37 X 51150985 51150985 + Missense_Mutation SNP G C C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:51150985G>C uc004dpj.2 + 1 1219 c.1117G>C c.(1117-1119)GGG>CGG p.G373R NM_203407 NP_981952 hypothetical protein LOC340602 TCCTTCCTGTGGGACTGGCTC 0.602 SSX7 280658 broad.mit.edu 37 X 52677324 52677324 + Silent SNP A G G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:52677324A>G uc004dqx.1 - 6 612 c.453T>C c.(451-453)ATT>ATC p.I151I NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding skin(1) 1 Ovarian(276;0.236) ATGTCTTGTTAATCTTCTCAG 0.512 KIAA2022 340533 broad.mit.edu 37 X 73963402 73963402 + Silent SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:73963402C>T uc004eby.2 - 3 1607 c.990G>A c.(988-990)CAG>CAA p.Q330Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 330 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GGGCATCTTCCTGCATCAAAA 0.448 PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA - - TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:110406206_110406208delGAA uc004epa.2 + 6 604_606 c.577_579delGAA c.(577-579)GAAdel p.E197del PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_In_Frame_Del_p.E218del|PAK3_uc010npw.1_In_Frame_Del_p.E203del NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 agatgaagaggaagaagaagaag 0.325 TSP Lung(19;0.15) KIAA1210 57481 broad.mit.edu 37 X 118220581 118220581 + Missense_Mutation SNP C T T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:118220581C>T uc004era.3 - 11 4612 c.4612G>A c.(4612-4614)GTT>ATT p.V1538I NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1538 ovary(4)|skin(1) 5 TTATCTGCAACGTAAGATATT 0.507 DCAF12L1 139170 broad.mit.edu 37 X 125686304 125686304 + Silent SNP C T T rs141018282 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:125686304C>T uc004eul.2 - 1 539 c.288G>A c.(286-288)ACG>ACA p.T96T NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 96 skin(3)|ovary(1) 4 CCTTGTTGACCGTGCCCAGCT 0.657 USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A - - TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:132160788delA uc010nrm.1 - 6 1931 c.1461delT c.(1459-1461)TTTfs p.F487fs USP26_uc011mvf.1_Frame_Shift_Del_p.F487fs NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.G488fs*6(2)|p.F487fs*7(1) lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) CTTCTGCTCCAAAAAAAAGAT 0.383 MAGEA10 4109 broad.mit.edu 37 X 151303934 151303934 + Silent SNP G A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:151303934G>A uc004ffk.2 - 5 567 c.159C>T c.(157-159)CCC>CCT p.P53P MAGEA10_uc004ffl.2_Silent_p.P53P NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 53 0 Acute lymphoblastic leukemia(192;6.56e-05) aggaggaggagggaaaagagg 0.418 RENBP 5973 broad.mit.edu 37 X 153209567 153209567 + Missense_Mutation SNP C A A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:153209567C>A uc004fjo.1 - 3 348 c.178G>T c.(178-180)GAT>TAT p.D60Y RENBP_uc011mzh.1_Missense_Mutation_p.D60Y NM_002910 NP_002901 P51606 RENBP_HUMAN renin binding protein 60 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity ovary(1)|pancreas(1) 2 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TTGAGGTCATCATACACCCGC 0.632