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 INPP5B 3633 broad.mit.edu 37 1 38345863 38345863 + Missense_Mutation SNP T C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:38345863T>C uc001ccg.1 - 15 1529 c.1435A>G c.(1435-1437)AAA>GAA p.K479E INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccf.1_Missense_Mutation_p.K315E|INPP5B_uc010oij.1_RNA NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 559 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACCTGAATTTTCAGCTATACA 0.398 CGN 57530 broad.mit.edu 37 1 151491244 151491244 + Missense_Mutation SNP G T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:151491244G>T uc009wmw.2 + 2 393 c.249G>T c.(247-249)AAG>AAT p.K83N NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 77 Head. myosin complex|tight junction actin binding|motor activity ovary(2)|pancreas(1) 3 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TCCAAATCAAGGGGGCCAATG 0.592 HRNR 388697 broad.mit.edu 37 1 152187646 152187646 + Silent SNP T C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:152187646T>C uc001ezt.1 - 3 6535 c.6459A>G c.(6457-6459)TCA>TCG p.S2153S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2153 keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGACGAACCTGAGCTAGATC 0.607 ABL2 27 broad.mit.edu 37 1 179077669 179077669 + Silent SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:179077669C>T uc001gmj.3 - 12 3020 c.2733G>A c.(2731-2733)CCG>CCA p.P911P ABL2_uc010pnf.1_Silent_p.P808P|ABL2_uc010png.1_Silent_p.P787P|ABL2_uc010pnh.1_Silent_p.P890P|ABL2_uc001gmg.3_Silent_p.P793P|ABL2_uc001gmi.3_Silent_p.P896P|ABL2_uc001gmh.3_Silent_p.P875P|ABL2_uc010pne.1_Silent_p.P772P NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 911 F-actin-binding (By similarity).|Pro-rich. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) AAGGCCAGCCCGGCTGCTCTC 0.607 T ETV6 AML C1orf26 54823 broad.mit.edu 37 1 185144110 185144110 + Silent SNP A G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:185144110A>G uc001grg.3 + 5 945 c.831A>G c.(829-831)TTA>TTG p.L277L C1orf26_uc001grh.3_Silent_p.L277L NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 277 0 AGGTTTCATTAAATGTGACTA 0.348 CFH 3075 broad.mit.edu 37 1 196709801 196709801 + Missense_Mutation SNP G T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:196709801G>T uc001gtj.3 + 18 3075 c.2835G>T c.(2833-2835)ATG>ATT p.M945I NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 945 Sushi 16. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TAGCTCACATGTCAGACAGTT 0.353 PTPRC 5788 broad.mit.edu 37 1 198703534 198703534 + Silent SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:198703534C>A uc001gur.1 + 22 2431 c.2251C>A c.(2251-2253)CGA>AGA p.R751R PTPRC_uc001gus.1_Silent_p.R703R|PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc010ppg.1_Silent_p.R687R NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 751 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 CATGGTCACTCGATGTGAAGA 0.423 SOX13 9580 broad.mit.edu 37 1 204086257 204086259 + In_Frame_Del DEL AGC - - TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:204086257_204086259delAGC uc001ham.2 + 6 1194_1196 c.599_601delAGC c.(598-603)AAGCAG>AAG p.Q204del SOX13_uc001hal.2_In_Frame_Del_p.Q204del|SOX13_uc010pqp.1_In_Frame_Del_p.Q204del|SOX13_uc010pqq.1_In_Frame_Del_p.Q71del NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 204 Gln-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CAGATTGCAAAGCAGCAGCAGCA 0.581 PIGR 5284 broad.mit.edu 37 1 207108974 207108974 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:207108974C>T uc001hez.2 - 5 1419 c.1235G>A c.(1234-1236)CGC>CAC p.R412H PIGR_uc009xbz.2_Missense_Mutation_p.R412H NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 412 Ig-like V-type 4.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CAGGGAGAGGCGGCCCTCGTA 0.637 OREG0014186 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR2M5 127059 broad.mit.edu 37 1 248308541 248308541 + Missense_Mutation SNP T C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr1:248308541T>C uc010pze.1 + 1 92 c.92T>C c.(91-93)GTC>GCC p.V31A NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TTCTTTCTGGTCCTGGCCATC 0.507 DNAJC9 23234 broad.mit.edu 37 10 75006771 75006771 + Missense_Mutation SNP G C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr10:75006771G>C uc001jtr.2 - 1 255 c.177C>G c.(175-177)TTC>TTG p.F59L DNAJC9_uc010qkg.1_Missense_Mutation_p.F59L|MRPS16_uc010qkh.1_RNA NM_015190 NP_056005 Q8WXX5 DNJC9_HUMAN DnaJ homolog, subfamily C, member 9 59 J. protein folding heat shock protein binding|unfolded protein binding 0 Prostate(51;0.0119) TGCATACCTGGAAGCGGCGGG 0.736 PTEN 5728 broad.mit.edu 37 10 89717636 89717636 + Nonsense_Mutation SNP A T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr10:89717636A>T uc001kfb.2 + 8 1692 c.661A>T c.(661-663)AAG>TAG p.K221* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 221 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.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.K221*(1)|p.Q214fs*22(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) CTGCCAGCTAAAGGTGAAGAT 0.413 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) SLC22A11 55867 broad.mit.edu 37 11 64337166 64337166 + Silent SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr11:64337166G>A uc001oai.2 + 9 1799 c.1425G>A c.(1423-1425)GGG>GGA p.G475G SLC22A11_uc001oaj.2_Intron|SLC22A11_uc009ypq.2_Silent_p.G367G NM_018484 NP_060954 Q9NSA0 S22AB_HUMAN solute carrier family 22 member 11 475 Helical; (Potential). urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Probenecid(DB01032) GCCGGCTGGGGGCTATGATGG 0.612 PHLDB1 23187 broad.mit.edu 37 11 118521224 118521224 + Silent SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr11:118521224G>A uc001ptr.1 + 21 4199 c.3846G>A c.(3844-3846)CGG>CGA p.R1282R PHLDB1_uc001pts.2_Silent_p.R1282R|PHLDB1_uc001ptt.2_Silent_p.R1235R|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Silent_p.R1097R|PHLDB1_uc001ptw.1_Silent_p.R637R|PHLDB1_uc009zai.1_Silent_p.R318R|PHLDB1_uc001ptx.1_Silent_p.R318R NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 1282 PH. 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TCTTCGACCGGCTCAAGCGCA 0.572 VPS26B 112936 broad.mit.edu 37 11 134104939 134104939 + Silent SNP G T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr11:134104939G>T uc001qhe.2 + 2 828 c.372G>T c.(370-372)GTG>GTT p.V124V NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B 124 protein transport|vacuolar transport cytosol|retromer complex 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) GGCAGAATGTGAAGCTACGGT 0.562 NANOG 79923 broad.mit.edu 37 12 7945568 7945568 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr12:7945568G>A uc009zfy.1 + 2 390 c.174G>A c.(172-174)ATG>ATA p.M58I NM_024865 NP_079141 Q9H9S0 NANOG_HUMAN Nanog homeobox 58 cell proliferation|embryo development|somatic stem cell maintenance nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Kidney(36;0.0872) CTTCCTCCATGGATCTGCTTA 0.388 KLRK1 22914 broad.mit.edu 37 12 10539553 10539553 + Nonsense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr12:10539553G>A uc009zhj.2 - 3 261 c.97C>T c.(97-99)CGA>TGA p.R33* uc001qya.1_Intron|KLRK1_uc001qyb.2_RNA|KLRK1_uc001qyc.2_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.2_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.2_Nonsense_Mutation_p.R33* NM_007360 NP_031386 P26718 NKG2D_HUMAN NKG2-D type II integral membrane protein 33 Cytoplasmic (Potential). natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding 0 TTTTGCCATCGTGTTGAAAAA 0.343 GRIN2B 2904 broad.mit.edu 37 12 13906747 13906747 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr12:13906747C>T uc001rbt.2 - 3 693 c.514G>A c.(514-516)GTC>ATC p.V172I NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 172 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGGTGGTGACGATAGAAAAG 0.463 ESPL1 9700 broad.mit.edu 37 12 53662559 53662559 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr12:53662559C>A uc001sck.2 + 2 100 c.9C>A c.(7-9)AGC>AGA p.S3R ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 3 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TCATGAGGAGCTTCAAAAGAG 0.527 KIAA0564 23078 broad.mit.edu 37 13 42142433 42142433 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr13:42142433C>A uc001uyj.2 - 45 5688 c.5618G>T c.(5617-5619)AGA>ATA p.R1873I NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 1873 VWFA. extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TGGTAAAGTTCTCTGAAGCCT 0.502 C14orf49 161176 broad.mit.edu 37 14 95932331 95932331 + Silent SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr14:95932331G>A uc001yei.3 - 3 579 c.564C>T c.(562-564)AGC>AGT p.S188S C14orf49_uc010avi.2_Silent_p.S188S|C14orf49_uc001yej.1_Silent_p.S188S NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 188 Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) CTTCGTCCACGCTGGGGTCCC 0.607 Unknown 0 broad.mit.edu 37 15 23412214 23412214 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr15:23412214C>A uc010uab.1 - 2 136 c.111G>T c.(109-111)AAG>AAT p.K37N NM_001001413 NP_001001413 golgi autoantigen, golgin subfamily a, 6-like 1 TTATTTTCTTCTTTTTGGTGT 0.512 CHRFAM7A 89832 broad.mit.edu 37 15 30664456 30664456 + Silent SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr15:30664456C>T uc001zdt.1 - 7 983 c.417G>A c.(415-417)AGG>AGA p.R139R DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R NM_139320 NP_647536 Q494W8 CRFM7_HUMAN CHRNA7-FAM7A fusion isoform 1 139 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity skin(1) 1 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) AGTAGAGCGTCCTGCGGCGCA 0.572 RYR3 6263 broad.mit.edu 37 15 33952594 33952594 + Missense_Mutation SNP T A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr15:33952594T>A uc001zhi.2 + 34 4662 c.4592T>A c.(4591-4593)ATG>AAG p.M1531K RYR3_uc010bar.2_Missense_Mutation_p.M1531K NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1531 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCCCTGCAGATGATGGCGCTC 0.672 WDR72 256764 broad.mit.edu 37 15 53998128 53998128 + Silent SNP A G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr15:53998128A>G uc002acj.2 - 10 1140 c.1098T>C c.(1096-1098)CCT>CCC p.P366P WDR72_uc010bfi.1_Silent_p.P366P NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 366 lung(1)|skin(1) 2 all cancers(107;0.0511) ACTTACCTCTAGGAGAACCAT 0.383 PCSK6 5046 broad.mit.edu 37 15 101972225 101972225 + Silent SNP G A A rs117473739 by1000genomes TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr15:101972225G>A uc002bwy.2 - 4 797 c.483C>T c.(481-483)AAC>AAT p.N161N PCSK6_uc010bpd.2_Silent_p.N31N|PCSK6_uc010bpe.2_Silent_p.N161N|PCSK6_uc002bxa.2_Silent_p.N161N|PCSK6_uc002bxb.2_Silent_p.N161N|PCSK6_uc002bxc.1_Silent_p.N161N|PCSK6_uc002bxd.1_Silent_p.N161N|PCSK6_uc002bxe.2_Silent_p.N161N|PCSK6_uc002bxg.1_Silent_p.N161N NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 161 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AAATGGGGTCGTTGAAGTAAA 0.512 TSC2 7249 broad.mit.edu 37 16 2134267 2134267 + Missense_Mutation SNP C A A rs137854084 TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr16:2134267C>A uc002con.2 + 34 4150 c.4044C>A c.(4042-4044)CAC>CAA p.H1348Q TSC2_uc010bsd.2_Missense_Mutation_p.H1325Q|TSC2_uc002coo.2_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.1_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.1_Missense_Mutation_p.H1233Q|TSC2_uc002cop.2_Missense_Mutation_p.H1104Q|TSC2_uc002coq.2_Missense_Mutation_p.H123Q|TSC2_uc002cor.2_Missense_Mutation_p.H49Q NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 1348 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) AGTCGCTCCACGCGGAGGAGC 0.657 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr16:32890622T>G uc002edh.1 - 5 440 c.264A>C c.(262-264)AAA>AAC p.K88N SLC6A10P_uc002edi.1_RNA RecName: Full=Transporter; 0 CGTTGGTGTTTTTGTAGACCA 0.512 CHD9 80205 broad.mit.edu 37 16 53190198 53190198 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr16:53190198C>A uc002ehb.2 + 1 361 c.197C>A c.(196-198)ACT>AAT p.T66N CHD9_uc002egy.2_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002eha.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.2_Missense_Mutation_p.T66N NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 66 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) CAGAAGATGACTGATTTTGAA 0.363 SLC38A7 55238 broad.mit.edu 37 16 58705012 58705012 + Missense_Mutation SNP C G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr16:58705012C>G uc002eod.1 - 10 1561 c.1168G>C c.(1168-1170)GAC>CAC p.D390H SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Missense_Mutation_p.D301H NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 390 Helical; (Potential). amino acid transport|sodium ion transport integral to membrane ovary(1) 1 TTGCCGATGTCAGGGATGAAG 0.667 B3GNT9 84752 broad.mit.edu 37 16 67183810 67183810 + Silent SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr16:67183810C>A uc002erf.2 - 2 900 c.579G>T c.(577-579)CTG>CTT p.L193L uc002erg.1_Missense_Mutation_p.S71R NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 193 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 AGGCCCAGAGCAGGATGTCCG 0.642 B3GNT9 84752 broad.mit.edu 37 16 67184087 67184087 + Missense_Mutation SNP T G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr16:67184087T>G uc002erf.2 - 2 623 c.302A>C c.(301-303)AAC>ACC p.N101T uc002erg.1_Missense_Mutation_p.L164V NM_033309 NP_171608 Q6UX72 B3GN9_HUMAN UDP-GlcNAc:betaGal 101 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 GTGCGGCTGGTTAATGAGCAG 0.672 RICH2 9912 broad.mit.edu 37 17 12887884 12887884 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr17:12887884C>A uc002gnr.3 + 20 2303 c.1976C>A c.(1975-1977)CCC>CAC p.P659H RICH2_uc010vvk.1_Missense_Mutation_p.P659H|RICH2_uc010vvl.1_Missense_Mutation_p.P653H|RICH2_uc002gns.3_Missense_Mutation_p.P453H|RICH2_uc010vvm.1_Missense_Mutation_p.P653H|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 659 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CCCAAGGTCCCCTTTGGCCAG 0.582 NEUROD2 4761 broad.mit.edu 37 17 37762281 37762281 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr17:37762281G>A uc002hry.2 - 2 772 c.572C>T c.(571-573)ACT>ATT p.T191I NM_006160 NP_006151 Q15784 NDF2_HUMAN neurogenic differentiation 2 191 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) CTTGCACAGAGTCTGCACGTA 0.622 ZNF516 9658 broad.mit.edu 37 18 74090999 74090999 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr18:74090999G>A uc010dqx.1 - 3 3306 c.3071C>T c.(3070-3072)GCG>GTG p.A1024V ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 1024 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTGCAAGGCCGCGTCGCCCCT 0.721 EVI5L 115704 broad.mit.edu 37 19 7928493 7928493 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:7928493C>A uc002min.2 + 19 2444 c.2290C>A c.(2290-2292)CGC>AGC p.R764S EVI5L_uc010xjz.1_Missense_Mutation_p.R775S NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 764 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GCGCTTCTTCCGCCGTCTGGA 0.687 CILP2 148113 broad.mit.edu 37 19 19654993 19654993 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:19654993G>A uc002nmv.3 + 8 1724 c.1639G>A c.(1639-1641)GTG>ATG p.V547M CILP2_uc002nmw.3_Missense_Mutation_p.V553M NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 547 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 AGGTGCCGGCGTGTACCACGA 0.622 PSG3 5671 broad.mit.edu 37 19 43233959 43233959 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:43233959C>T uc002oue.2 - 4 1091 c.959G>A c.(958-960)CGC>CAC p.R320H PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.R342H NM_021016 NP_066296 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 320 Ig-like C2-type 2. defense response|female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TGGGTAACTGCGGATGCCACC 0.493 RUVBL2 10856 broad.mit.edu 37 19 49510608 49510608 + Nonsense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:49510608C>T uc002plr.1 + 6 458 c.445C>T c.(445-447)CGA>TGA p.R149* RUVBL2_uc002plq.1_Nonsense_Mutation_p.R104*|RUVBL2_uc010yab.1_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*|RUVBL2_uc010yac.1_Nonsense_Mutation_p.R104* NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 149 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) CCAGATTGATCGACCAGCAAC 0.587 LHB 3972 broad.mit.edu 37 19 49519328 49519328 + Silent SNP G T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:49519328G>T uc002plt.2 - 3 432 c.423C>A c.(421-423)CTC>CTA p.L141L NM_000894 NP_000885 P01229 LSHB_HUMAN luteinizing hormone beta subunit precursor 141 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) AGGGTCTTTAGAGGAAGAGGA 0.622 AP2A1 160 broad.mit.edu 37 19 50270423 50270423 + Silent SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:50270423G>A uc002ppn.2 + 1 244 c.33G>A c.(31-33)CGG>CGA p.R11R AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.R11R NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 11 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) ATGGGATGCGGGGGCTCGCGG 0.706 CEACAM18 729767 broad.mit.edu 37 19 51981792 51981792 + Missense_Mutation SNP C G G rs140323408 by1000genomes TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:51981792C>G uc002pwv.1 + 2 79 c.79C>G c.(79-81)CGA>GGA p.R27G NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 27 integral to membrane p.R27*(1) skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GGCTGGGAGACGAGACCGGCA 0.647 PRKCG 5582 broad.mit.edu 37 19 54395012 54395012 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:54395012G>A uc002qcq.1 + 6 896 c.614G>A c.(613-615)CGG>CAG p.R205Q PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 205 C2. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CCAGACCCTCGGAACCTGACG 0.532 NLRP2 55655 broad.mit.edu 37 19 55494705 55494705 + Missense_Mutation SNP A T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr19:55494705A>T uc002qij.2 + 6 1725 c.1639A>T c.(1639-1641)AAC>TAC p.N547Y NLRP2_uc010yfp.1_Missense_Mutation_p.N524Y|NLRP2_uc010esn.2_Missense_Mutation_p.N523Y|NLRP2_uc010eso.2_Missense_Mutation_p.N544Y|NLRP2_uc010esp.2_Missense_Mutation_p.N525Y NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 547 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) AAGACTCAGGAACCCCGACCT 0.567 KCNK3 3777 broad.mit.edu 37 2 26950700 26950700 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr2:26950700G>A uc002rhn.2 + 2 612 c.449G>A c.(448-450)CGG>CAG p.R150Q NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 150 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGGCATGCGGCGCGCCGAC 0.652 THADA 63892 broad.mit.edu 37 2 43458375 43458375 + Silent SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr2:43458375G>A uc002rsw.3 - 38 5926 c.5574C>T c.(5572-5574)TCC>TCT p.S1858S THADA_uc010far.2_Silent_p.S1053S|THADA_uc002rsx.3_Silent_p.S1858S|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1858 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GACGCCAGCCGGACTTTGAGA 0.517 CNTNAP5 129684 broad.mit.edu 37 2 125555882 125555882 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr2:125555882C>A uc002tno.2 + 19 3563 c.3199C>A c.(3199-3201)CTG>ATG p.L1067M CNTNAP5_uc010flu.2_Missense_Mutation_p.L1068M NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1067 Extracellular (Potential).|Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CGTGGTTGTTCTGCTCTGCAA 0.498 UBR3 130507 broad.mit.edu 37 2 170850840 170850840 + Silent SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr2:170850840G>A uc010zdi.1 + 26 3792 c.3792G>A c.(3790-3792)GGG>GGA p.G1264G UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Silent_p.G85G|UBR3_uc002uft.3_Silent_p.G117G NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1264 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 TAGTTTTGGGGCAGTGCCGTG 0.418 FAM126B 285172 broad.mit.edu 37 2 201853144 201853144 + Missense_Mutation SNP C G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr2:201853144C>G uc002uws.3 - 11 1020 c.832G>C c.(832-834)GTT>CTT p.V278L FAM126B_uc002uwu.2_Missense_Mutation_p.V196L|FAM126B_uc002uwv.2_Missense_Mutation_p.V278L NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 278 intracellular ovary(1) 1 GCATTGGCAACCTACAATGAT 0.338 PLEKHM3 389072 broad.mit.edu 37 2 208841553 208841553 + Silent SNP A G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr2:208841553A>G uc002vcl.2 - 3 1858 c.1368T>C c.(1366-1368)AAT>AAC p.N456N PLEKHM3_uc002vcm.2_Silent_p.N456N NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 456 PH 2. intracellular signal transduction metal ion binding ovary(1) 1 TCCTCGCCACATTGGCAGCTA 0.522 CEBPB 1051 broad.mit.edu 37 20 48807614 48807614 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr20:48807614C>T uc002xvi.1 + 1 239 c.44C>T c.(43-45)CCG>CTG p.P15L CEBPB_uc002xvh.2_RNA NM_005194 NP_005185 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein beta 15 Required for Lys-174 sumoylation. acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) CTCCCCCTGCCGCCGCCGCCG 0.647 HIRA 7290 broad.mit.edu 37 22 19365576 19365576 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr22:19365576C>T uc002zpf.1 - 14 1649 c.1429G>A c.(1429-1431)GCA>ACA p.A477T HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.1_Missense_Mutation_p.A433T|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 477 Interaction with CCNA1.|Interaction with ASF1A. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) TTAAAGAATGCCGTGGAGAAG 0.468 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A G G rs71317064 TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr22:38119801A>G uc003atr.2 + 7 1509 c.1238A>G c.(1237-1239)AAA>AGA p.K413R TRIOBP_uc003atu.2_Missense_Mutation_p.K241R|TRIOBP_uc003atq.1_Missense_Mutation_p.K413R|TRIOBP_uc003ats.1_Missense_Mutation_p.K241R NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582 C3orf32 51066 broad.mit.edu 37 3 8661576 8661576 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr3:8661576C>A uc003bqu.2 - 12 1286 c.1040G>T c.(1039-1041)TGC>TTC p.C347F C3orf32_uc003bqz.2_Missense_Mutation_p.C347F|C3orf32_uc003bqs.1_RNA|C3orf32_uc003bqt.2_Missense_Mutation_p.C296F|C3orf32_uc011atg.1_Missense_Mutation_p.C369F|C3orf32_uc003bqv.2_Missense_Mutation_p.C296F|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.C347F NM_015931 NP_057015 Q9Y2M2 CC032_HUMAN hypothetical protein LOC51066 347 skin(1) 1 ACAGCCACAGCAATACCGCTC 0.507 CCBP2 1238 broad.mit.edu 37 3 42905968 42905968 + Translation_Start_Site SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr3:42905968C>T uc003cme.2 + 3 153 c.-26C>T c.(-28--24)GACGT>GATGT CCBP2_uc003cmd.1_Translation_Start_Site|CCBP2_uc003cmf.2_Translation_Start_Site|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) CACTACAGGACGTCGGGACTG 0.527 PCNP 57092 broad.mit.edu 37 3 101304326 101304326 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr3:101304326G>A uc003dva.2 + 3 343 c.325G>A c.(325-327)GTA>ATA p.V109I PCNP_uc003dvb.2_RNA|PCNP_uc003dvc.2_RNA|PCNP_uc003dvd.2_Missense_Mutation_p.V109I NM_020357 NP_065090 Q8WW12 PCNP_HUMAN PEST proteolytic signal containing nuclear 109 cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination nucleus protein binding 0 AACTCTTTCAGTAGCAGCAGC 0.299 ALG1L2 644974 broad.mit.edu 37 3 129811972 129811972 + Missense_Mutation SNP G C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr3:129811972G>C uc011bld.1 + 4 468 c.282G>C c.(280-282)CAG>CAC p.Q94H ALG1L2_uc010hth.2_RNA NM_001136152 NP_001129624 C9J202 AG1L2_HUMAN asparagine-linked glycosylation 1-like 2 94 biosynthetic process transferase activity, transferring glycosyl groups 0 TTGACGGACAGAACCTTCCTT 0.383 DNAJC19 131118 broad.mit.edu 37 3 180702463 180702463 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr3:180702463C>T uc003fkt.2 - 6 456 c.316G>A c.(316-318)GCT>ACT p.A106T DNAJC19_uc003fku.2_RNA NM_145261 NP_660304 Q96DA6 TIM14_HUMAN DnaJ homolog, subfamily C, member 19 106 J.|Mitochondrial matrix (Potential). genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception integral to membrane|mitochondrial inner membrane heat shock protein binding 0 all_cancers(143;3.12e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22) AAATCTTTAGCTTCATTGATT 0.284 DRD5 1816 broad.mit.edu 37 4 9784083 9784083 + Missense_Mutation SNP A T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr4:9784083A>T uc003gmb.3 + 1 826 c.430A>T c.(430-432)AGG>TGG p.R144W NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 144 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGCCATCTCCAGGCCCTTCCG 0.597 SEPSECS 51091 broad.mit.edu 37 4 25127315 25127315 + Splice_Site SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr4:25127315C>T uc003grg.2 - 10 1424 c.1211_splice c.e10+1 p.R404_splice SEPSECS_uc003gri.2_Splice_Site_p.R403_splice|SEPSECS_uc003grh.2_Splice_Site_p.R325_splice NM_153825 NP_722547 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding 0 Breast(46;0.173) Pyridoxal Phosphate(DB00114) AACATACTTACCTGGCTCCAG 0.388 CCKAR 886 broad.mit.edu 37 4 26491828 26491828 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr4:26491828C>A uc003gse.1 - 1 215 c.62G>T c.(61-63)GGG>GTG p.G21V NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 21 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) ATTTTCGAGCCCGAGTTCACA 0.493 RBM47 54502 broad.mit.edu 37 4 40440439 40440439 + Missense_Mutation SNP T C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr4:40440439T>C uc003gvc.2 - 4 1182 c.472A>G c.(472-474)ATC>GTC p.I158V RBM47_uc003gvd.2_Missense_Mutation_p.I158V|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.I120V|RBM47_uc003gvg.1_Missense_Mutation_p.I158V NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 158 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 ATCTTGGGGATCCCGCCGATG 0.637 SRD5A1 6715 broad.mit.edu 37 5 6662995 6662995 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr5:6662995C>T uc003jdw.2 + 4 819 c.629C>T c.(628-630)GCC>GTC p.A210V SRD5A1_uc011cml.1_RNA|SRD5A1_uc011cmm.1_Missense_Mutation_p.A163V NM_001047 NP_001038 P18405 S5A1_HUMAN steroid-5-alpha-reductase 1 210 Helical; (Potential). androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity 0 Dutasteride(DB01126)|Finasteride(DB01216) TGTGGCTATGCCCTGGCCAGC 0.423 ZNF622 90441 broad.mit.edu 37 5 16453250 16453250 + Missense_Mutation SNP T A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr5:16453250T>A uc003jfq.2 - 5 1298 c.1178A>T c.(1177-1179)CAT>CTT p.H393L NM_033414 NP_219482 Q969S3 ZN622_HUMAN zinc finger protein 622 393 cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(1) 1 CAAGGAGCGATGACCCACTCT 0.463 NPR3 4883 broad.mit.edu 37 5 32739137 32739137 + Splice_Site SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr5:32739137G>A uc003jhv.2 + 3 1277 c.1059_splice c.e3+1 p.Y353_splice NPR3_uc010iuo.2_Splice_Site_p.Y137_splice|NPR3_uc011cnz.1_Splice_Site_p.Y137_splice|NPR3_uc003jhu.2_Splice_Site_p.Y353_splice NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GGAGGATTACGTAAGTGCCTG 0.408 PIK3R1 5295 broad.mit.edu 37 5 67591096 67591098 + In_Frame_Del DEL GAA - - TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr5:67591096_67591098delGAA uc003jva.2 + 13 2249_2251 c.1689_1691delGAA c.(1687-1692)ATGAAC>ATC p.563_564MN>I PIK3R1_uc003jvb.2_In_Frame_Del_p.563_564MN>I|PIK3R1_uc003jvc.2_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.2_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.2_In_Frame_Del_p.242_243MN>I|PIK3R1_uc011crb.1_In_Frame_Del_p.233_234MN>I NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 563_564 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.N564D(3)|p.D560_S565del(1)|p.R562_M563ins13(1)|p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ACAAACGTATGAACAGCATTAAA 0.374 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) SH3RF2 153769 broad.mit.edu 37 5 145393623 145393623 + Missense_Mutation SNP A T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr5:145393623A>T uc003lnt.2 + 5 1296 c.1058A>T c.(1057-1059)CAG>CTG p.Q353L SH3RF2_uc011dbl.1_Missense_Mutation_p.Q353L NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 353 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) TGTGTGGGACAGGTAGGGAAG 0.512 DCTN4 51164 broad.mit.edu 37 5 150133220 150133220 + Splice_Site SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr5:150133220C>A uc003lsv.2 - 3 309 c.207_splice c.e3-1 p.R69_splice DCTN4_uc003lsu.2_Splice_Site_p.R12_splice|DCTN4_uc010jhi.2_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice NM_016221 NP_057305 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) isoform b centrosome|nucleus protein N-terminus binding central_nervous_system(1) 1 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTGGCACATCTGTGACATGA 0.438 PBX2 5089 broad.mit.edu 37 6 32156280 32156280 + Silent SNP G T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr6:32156280G>T uc003oav.1 - 3 568 c.297C>A c.(295-297)GGC>GGA p.G99G PBX2_uc003oaw.2_Silent_p.G99G NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 99 transcription factor binding ovary(1) 1 GAATGCTGAGGCCTAGCATGC 0.612 ZFAND3 60685 broad.mit.edu 37 6 38084429 38084429 + Missense_Mutation SNP G C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr6:38084429G>C uc003onx.2 + 5 858 c.443G>C c.(442-444)CGA>CCA p.R148P NM_021943 NP_068762 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 148 DNA binding|zinc ion binding ovary(1) 1 GAAACCAGTCGATCTAAACAG 0.507 CAPN11 11131 broad.mit.edu 37 6 44147870 44147870 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr6:44147870G>A uc003owt.1 + 14 1648 c.1610G>A c.(1609-1611)CGG>CAG p.R537Q CAPN11_uc011dvn.1_Missense_Mutation_p.R191Q NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 537 Domain III. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTCCTGCTTCGGGTCTTCACC 0.577 BCLAF1 9774 broad.mit.edu 37 6 136599814 136599814 + Nonsense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr6:136599814G>A uc003qgx.1 - 4 458 c.205C>T c.(205-207)CGA>TGA p.R69* BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R69*|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R67*|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R67* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 69 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCATAAGGTCGTCTCATTCCT 0.433 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr7:55221821G>A uc003tqk.2 + 7 1111 c.865G>A c.(865-867)GCC>ACC p.A289T EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|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.A289T(3)|p.A289D(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) CAGCTTTGGTGCCACCTGCGT 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) RNF133 168433 broad.mit.edu 37 7 122338474 122338474 + Missense_Mutation SNP T G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr7:122338474T>G uc003vkj.1 - 1 735 c.499A>C c.(499-501)ATT>CTT p.I167L CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 167 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 CCCTTCTTAATTAAATGGAAA 0.423 SMARCD3 6604 broad.mit.edu 37 7 150945617 150945617 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr7:150945617C>T uc003wjs.2 - 1 133 c.32G>A c.(31-33)CGC>CAC p.R11H SMARCD3_uc003wjt.2_Intron|SMARCD3_uc003wju.2_Intron|SMARCD3_uc011kvh.1_Missense_Mutation_p.R11H|SMARCD3_uc010lqa.1_Missense_Mutation_p.R11H NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 11 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGTGGCTTTGCGCGCCCCTCC 0.498 DEFA4 1669 broad.mit.edu 37 8 6794410 6794410 + Silent SNP G A A rs61749084 byFrequency TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr8:6794410G>A uc003wqu.1 - 2 63 c.12C>T c.(10-12)ATC>ATT p.I4I NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 4 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CGAGGAGGGCGATAATCCTCA 0.622 NKX3-1 4824 broad.mit.edu 37 8 23538761 23538761 + Silent SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr8:23538761C>T uc011kzx.1 - 2 726 c.678G>A c.(676-678)GTG>GTA p.V226V NKX3-1_uc003xdv.1_Intron NM_006167 NP_006158 Q99801 NKX31_HUMAN NK3 homeobox 1 226 negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter nucleus estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding 0 Prostate(55;0.114) Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708) TCCAGCTGCCCACGCAGTACA 0.542 PREX2 80243 broad.mit.edu 37 8 68989642 68989642 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr8:68989642G>A uc003xxv.1 + 15 1607 c.1580G>A c.(1579-1581)CGC>CAC p.R527H PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 527 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 GGAGATTGCCGCACCAGAGAA 0.438 WDYHV1 55093 broad.mit.edu 37 8 124442261 124442261 + Silent SNP A G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr8:124442261A>G uc003yqn.1 + 3 347 c.222A>G c.(220-222)GGA>GGG p.G74G WDYHV1_uc011lij.1_Silent_p.G14G|WDYHV1_uc003yqo.1_RNA NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 74 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 CTGGAGATGGACCTGTGATCT 0.378 LRRC24 441381 broad.mit.edu 37 8 145748578 145748578 + Missense_Mutation SNP C G G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr8:145748578C>G uc003zdm.2 - 5 955 c.823G>C c.(823-825)GAG>CAG p.E275Q LRRC24_uc003zdn.2_Missense_Mutation_p.E272Q|LRRC14_uc003zdk.1_3'UTR|LRRC14_uc003zdl.1_3'UTR|LRRC14_uc003zdo.2_RNA NM_001024678 NP_001019849 Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 precursor 275 Ig-like C2-type. integral to membrane 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGCAGGTCCTCACCCAGGTTG 0.682 KIAA1045 23349 broad.mit.edu 37 9 34971449 34971449 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr9:34971449G>A uc003zvq.2 + 2 332 c.154G>A c.(154-156)GTC>ATC p.V52I KIAA1045_uc003zvr.2_Missense_Mutation_p.V52I NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 52 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) AGAGGGCTCCGTCCAGGAGGT 0.647 C9orf64 84267 broad.mit.edu 37 9 86554575 86554575 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr9:86554575G>A uc004anb.2 - 4 1125 c.877C>T c.(877-879)CTT>TTT p.L293F C9orf64_uc004anc.2_Missense_Mutation_p.L152F NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 293 0 AGCTCCAGAAGACAATCCCGG 0.458 GADD45G 10912 broad.mit.edu 37 9 92220750 92220750 + Silent SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr9:92220750C>T uc004aqq.2 + 3 434 c.324C>T c.(322-324)GGC>GGT p.G108G GADD45G_uc004aqr.2_Silent_p.G90G NM_006705 NP_006696 O95257 GA45G_HUMAN growth arrest and DNA-damage-inducible, gamma 108 activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development protein binding 0 TGGGCGCCGGCGAGGAGGCGG 0.662 C9orf102 375748 broad.mit.edu 37 9 98728904 98728904 + Nonsense_Mutation SNP G T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chr9:98728904G>T uc004avt.3 + 14 2429 c.2041G>T c.(2041-2043)GGA>TGA p.G681* C9orf102_uc011lum.1_Nonsense_Mutation_p.G383*|C9orf102_uc010mry.1_Nonsense_Mutation_p.G383*|C9orf102_uc010mrz.2_Nonsense_Mutation_p.G492*|C9orf102_uc004avu.2_Translation_Start_Site NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein 681 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) AGCAGTTCAAGGATCTAAAGA 0.408 DDX3X 1654 broad.mit.edu 37 X 41204796 41204796 + Missense_Mutation SNP C A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chrX:41204796C>A uc004dfe.2 + 12 2165 c.1310C>A c.(1309-1311)GCA>GAA p.A437E DDX3X_uc004dff.2_Missense_Mutation_p.A437E|DDX3X_uc011mkq.1_Missense_Mutation_p.A421E|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 437 Helicase C-terminal.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 CTCCTAAATGCAACAGGTAAC 0.249 HNSCC(61;0.18) AKAP4 8852 broad.mit.edu 37 X 49957173 49957173 + Missense_Mutation SNP C T T TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chrX:49957173C>T uc004dow.1 - 5 2315 c.2191G>A c.(2191-2193)GCA>ACA p.A731T AKAP4_uc004dov.1_Missense_Mutation_p.A348T|AKAP4_uc010njp.1_Missense_Mutation_p.A553T|AKAP4_uc004dou.1_Missense_Mutation_p.A722T NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 731 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) GGCTTATTTGCCGAGGCTGCT 0.448 RGAG1 57529 broad.mit.edu 37 X 109694254 109694254 + Missense_Mutation SNP G A A TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chrX:109694254G>A uc004eor.1 + 3 655 c.409G>A c.(409-411)GTA>ATA p.V137I RGAG1_uc011msr.1_Missense_Mutation_p.V137I NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 137 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AGAGTATGGGGTAATGTCCCC 0.502 MAGEA11 4110 broad.mit.edu 37 X 148794878 148794878 + Missense_Mutation SNP A C C TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 4221fc24-897f-493b-ba37-34bf90986d7c 8191e3a5-eb2a-4912-a644-f942db086777 g.chrX:148794878A>C uc004fdq.2 + 2 161 c.59A>C c.(58-60)AAG>ACG p.K20T HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Intron NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 20 cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ATCAAGAGGAAGAAGAAGAGG 0.572