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 PUM1 9698 broad.mit.edu 37 1 31409615 31409615 + Missense_Mutation SNP A C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr1:31409615A>C uc001bsi.1 - 21 3417 c.3304T>G c.(3304-3306)TGC>GGC p.C1102G PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsg.1_Missense_Mutation_p.C836G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc009vts.1_Intron NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 1102 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TTCATGGTGCACACCTCATCG 0.522 SOAT1 6646 broad.mit.edu 37 1 179304764 179304764 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr1:179304764G>A uc001gml.2 + 4 364 c.301G>A c.(301-303)GAA>AAA p.E101K SOAT1_uc010pni.1_Missense_Mutation_p.E36K|SOAT1_uc001gmm.2_Missense_Mutation_p.E43K|SOAT1_uc010pnj.1_5'UTR|SOAT1_uc010pnk.1_Missense_Mutation_p.E36K NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 101 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) TTCTGTTCTTGAAGGAGAGAA 0.318 SOAT1 6646 broad.mit.edu 37 1 179304793 179304793 + Splice_Site SNP G C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr1:179304793G>C uc001gml.2 + 4 392 c.329_splice c.e4+1 p.K110_splice SOAT1_uc010pni.1_Splice_Site_p.K45_splice|SOAT1_uc001gmm.2_Splice_Site_p.K52_splice|SOAT1_uc010pnj.1_Splice_Site|SOAT1_uc010pnk.1_Splice_Site_p.K45_splice NM_003101 NP_003092 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|skin(1) 2 Ezetimibe(DB00973)|Hesperetin(DB01094) ATAGAGCGAAGTAAGTATGTG 0.259 KCNT2 343450 broad.mit.edu 37 1 196398829 196398829 + Missense_Mutation SNP G T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr1:196398829G>T uc001gtd.1 - 9 757 c.697C>A c.(697-699)CTT>ATT p.L233I KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.L233I|KCNT2_uc001gtf.1_Missense_Mutation_p.L233I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Missense_Mutation_p.L233I|KCNT2_uc009wyv.1_Missense_Mutation_p.L208I NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 233 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CAGAAATAAAGGGAGTCAAAG 0.393 CBARA1 10367 broad.mit.edu 37 10 74234889 74234889 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr10:74234889C>T uc001jtb.1 - 9 1041 c.908G>A c.(907-909)CGT>CAT p.R303H CBARA1_uc010qjw.1_Missense_Mutation_p.R103H|CBARA1_uc010qjx.1_Missense_Mutation_p.R103H|CBARA1_uc009xqo.1_RNA NM_006077 NP_006068 Q9BPX6 MICU1_HUMAN calcium binding atopy-related autoantigen 1 301 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding ovary(1) 1 CTGCAGTTTACGCTGAAATTC 0.463 PTEN 5728 broad.mit.edu 37 10 89720799 89720802 + Frame_Shift_Del DEL TACT - - TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr10:89720799_89720802delTACT uc001kfb.2 + 9 1981_1984 c.950_953delTACT c.(949-954)GTACTTfs p.V317fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 317_318 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.L318fs*2(17)|p.V317fs*3(16)|p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.V317fs*6(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.L318F(1)|p.T318fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GAATATCTAGTACTTACTTTAACA 0.333 V317fs*3(SKUT1_SOFT_TISSUE)|V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM) 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) MEN1 4221 broad.mit.edu 37 11 64575552 64575552 + Silent SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr11:64575552G>A uc001obj.2 - 3 553 c.480C>T c.(478-480)TCC>TCT p.S160S MEN1_uc001obk.2_Silent_p.S160S|MEN1_uc001obl.2_Silent_p.S155S|MEN1_uc001obm.2_Silent_p.S155S|MEN1_uc001obn.2_Silent_p.S160S|MEN1_uc001obo.2_Silent_p.S160S|MEN1_uc001obp.2_Silent_p.S155S|MEN1_uc001obq.2_Silent_p.S160S|MEN1_uc001obr.2_Silent_p.S160S NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 160 S -> F (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 AGGCCACACCGGAGCTGTCCA 0.602 D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 MTNR1B 4544 broad.mit.edu 37 11 92715286 92715286 + Silent SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr11:92715286C>T uc001pdk.1 + 2 1000 c.897C>T c.(895-897)TTC>TTT p.F299F NM_005959 NP_005950 P49286 MTR1B_HUMAN melatonin receptor 1B 299 Helical; Name=7; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) TGGCTTATTTCAACAGCTGCC 0.522 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C T T rs121913529 TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr12:25398284C>T uc001rgp.1 - 2 216 c.35G>A c.(34-36)GGT>GAT p.G12D KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) ADCY6 112 broad.mit.edu 37 12 49169145 49169145 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr12:49169145G>A uc001rsh.3 - 10 2581 c.1921C>T c.(1921-1923)CGG>TGG p.R641W ADCY6_uc001rsj.3_Missense_Mutation_p.R641W|ADCY6_uc001rsi.3_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 641 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 TGGTCCTTCCGCAGCTGATCA 0.597 SLC5A8 160728 broad.mit.edu 37 12 101555815 101555815 + Missense_Mutation SNP A G G TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr12:101555815A>G uc001thz.3 - 13 1957 c.1567T>C c.(1567-1569)TAC>CAC p.Y523H NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 523 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GTGCTGAAGTACAGATATGAT 0.358 DYX1C1 161582 broad.mit.edu 37 15 55790519 55790520 + Frame_Shift_Del DEL AA - - TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr15:55790519_55790520delAA uc002adc.2 - 2 376_377 c.8_9delTT c.(7-9)CTTfs p.L3fs CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.2_Frame_Shift_Del_p.L3fs NM_130810 NP_570722 Q8WXU2 DYXC1_HUMAN dyslexia susceptibility 1 candidate 1 isoform a 3 CS. neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process cytoplasm|nucleus estrogen receptor binding skin(1) 1 all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171) CGCTAACCTGAAGAGGCATTCC 0.599 GOLGA6A 342096 broad.mit.edu 37 15 74365151 74365151 + Missense_Mutation SNP A C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr15:74365151A>C uc002axa.1 - 13 1474 c.1433T>G c.(1432-1434)CTA>CGA p.L478R NM_001038640 NP_001033729 Q9NYA3 GOG6A_HUMAN golgi autoantigen, golgin subfamily a, 6 478 Potential. 0 GGCAGCTTCTAGGTGCTCCTA 0.612 GOLGA6D 653643 broad.mit.edu 37 15 75580652 75580652 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr15:75580652G>A uc010uma.1 + 7 546 c.511G>A c.(511-513)GAA>AAA p.E171K uc010umb.1_5'Flank NM_001145224 NP_001138696 P0CG33 GOG6D_HUMAN golgi autoantigen, golgin subfamily a, 6D 171 Potential. 0 GCATATTCAAGAATTGGAGCG 0.557 TTLL13 440307 broad.mit.edu 37 15 90802040 90802040 + Silent SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr15:90802040C>T uc002bpd.1 + 10 1521 c.1233C>T c.(1231-1233)CTC>CTT p.L411L TTLL13_uc002bpe.1_RNA NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 411 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 0 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) ATGCACTTCTCTGTGATGCTA 0.512 DNAH3 55567 broad.mit.edu 37 16 21145587 21145587 + Missense_Mutation SNP A G G TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr16:21145587A>G uc010vbe.1 - 7 1075 c.1075T>C c.(1075-1077)TTT>CTT p.F359L DNAH3_uc002die.2_Missense_Mutation_p.F330L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 359 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) TACTCTGCAAACCACAGTTCT 0.527 SPAG5 10615 broad.mit.edu 37 17 26911445 26911445 + Missense_Mutation SNP G C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr17:26911445G>C uc002hbq.2 - 12 2307 c.2215C>G c.(2215-2217)CTA>GTA p.L739V SGK494_uc010waq.1_Intron NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 739 Gln-rich. cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) TGACTCTGTAGCTCTTTTAGC 0.512 HNF1B 6928 broad.mit.edu 37 17 36065013 36065013 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr17:36065013G>A uc002hok.3 - 6 1471 c.1250C>T c.(1249-1251)ACG>ATG p.T417M HNF1B_uc010wdi.1_Missense_Mutation_p.T391M NM_000458 NP_000449 P35680 HNF1B_HUMAN hepatocyte nuclear factor 1-beta isoform 1 417 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) GTGGATATTCGTCAAGGTGCT 0.478 Hereditary_Prostate_Cancer FBXL20 84961 broad.mit.edu 37 17 37431297 37431297 + Silent SNP G T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr17:37431297G>T uc010wed.1 - 10 974 c.753C>A c.(751-753)TCC>TCA p.S251S FBXL20_uc002hrt.2_Silent_p.S251S|FBXL20_uc010cvu.2_Silent_p.S219S NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 251 LRR 7. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) AGGCACAAAGGGATTGTAACT 0.403 POTEC 388468 broad.mit.edu 37 18 14542851 14542851 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr18:14542851C>T uc010dln.2 - 1 749 c.295G>A c.(295-297)GGC>AGC p.G99S POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 99 skin(3) 3 CACCACTTGCCCATCTTGCTC 0.622 KCNG2 26251 broad.mit.edu 37 18 77659449 77659449 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr18:77659449G>A uc010xfl.1 + 2 1034 c.1034G>A c.(1033-1035)CGC>CAC p.R345H NM_012283 NP_036415 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, 345 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CTGGCCGAGCGCGAGCTGGGC 0.716 ITGB1BP3 27231 broad.mit.edu 37 19 3942189 3942189 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr19:3942189G>A uc002lyz.3 + 8 901 c.611G>A c.(610-612)CGC>CAC p.R204H ITGB1BP3_uc010xia.1_Missense_Mutation_p.R209H NM_170678 NP_733778 Q9NPI5 NRK2_HUMAN integrin beta 1 binding protein 3 204 pyridine nucleotide biosynthetic process ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18) TCCCCGGCTCGCCCAGCCAGG 0.647 CCDC105 126402 broad.mit.edu 37 19 15132177 15132177 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr19:15132177C>T uc002nae.2 + 4 986 c.887C>T c.(886-888)GCG>GTG p.A296V NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 296 microtubule cytoskeleton organization microtubule ovary(1) 1 TGCGCCTTGGCGCTAAACGAA 0.597 ZNF208 7757 broad.mit.edu 37 19 22155492 22155492 + Missense_Mutation SNP A C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr19:22155492A>C uc002nqp.2 - 5 2193 c.2044T>G c.(2044-2046)TGT>GGT p.C682G ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) GCTTTGCCACATTCTTCACAT 0.358 BCL11A 53335 broad.mit.edu 37 2 60679781 60679781 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:60679781G>A uc002sab.2 - 5 2479 c.2251C>T c.(2251-2253)CGG>TGG p.R751W BCL11A_uc002sac.2_Silent_p.F217F|BCL11A_uc010ypi.1_Missense_Mutation_p.R420W|BCL11A_uc010ypj.1_Silent_p.F767F NM_018014 NP_060484 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 2 Error:Variant_position_missing_in_Q9H165_after_alignment negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GTACTACGCCGAATGGGGGTG 0.498 T IGH@ B-CLL ALMS1 7840 broad.mit.edu 37 2 73717955 73717955 + Missense_Mutation SNP G C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:73717955G>C uc002sje.1 + 12 8983 c.8872G>C c.(8872-8874)GCT>CCT p.A2958P ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.2_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2956 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GGATTCTATAGCTTCAGACCT 0.438 ALMS1 7840 broad.mit.edu 37 2 73717985 73717985 + Missense_Mutation SNP G C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:73717985G>C uc002sje.1 + 12 9013 c.8902G>C c.(8902-8904)GAA>CAA p.E2968Q ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.2_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2966 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CATTTCTCTTGAACAATGCCA 0.428 TTN 7273 broad.mit.edu 37 2 179623871 179623871 + Missense_Mutation SNP G T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:179623871G>T uc010zfg.1 - 44 10367 c.10143C>A c.(10141-10143)GAC>GAA p.D3381E TTN_uc010zfh.1_Missense_Mutation_p.D3335E|TTN_uc010zfi.1_Missense_Mutation_p.D3335E|TTN_uc010zfj.1_Missense_Mutation_p.D3335E|TTN_uc002umz.1_Missense_Mutation_p.D42E|TTN_uc002unb.2_Missense_Mutation_p.D3381E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TGATTTTCTTGTCTTTGCTGT 0.368 AOX1 316 broad.mit.edu 37 2 201527627 201527627 + Missense_Mutation SNP G A A rs142723794 byFrequency TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:201527627G>A uc002uvx.2 + 31 3579 c.3478G>A c.(3478-3480)GAA>AAA p.E1160K AOX1_uc010zhf.1_Missense_Mutation_p.E716K|AOX1_uc010fsu.2_Missense_Mutation_p.E526K NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1160 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CCAGCCCTTCGAATACTTTGT 0.483 CREB1 1385 broad.mit.edu 37 2 208434967 208434971 + Frame_Shift_Del DEL GAAGA - - TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:208434967_208434971delGAAGA uc002vcc.2 + 6 720_724 c.469_473delGAAGA c.(469-474)GAAGAGfs p.E157fs CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.2_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_RNA NM_134442 NP_604391 P16220 CREB1_HUMAN cAMP responsive element binding protein 1 157_158 KID. activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein dimerization activity|transcription cofactor activity EWSR1/CREB1(42) soft_tissue(42)|breast(1)|central_nervous_system(1) 44 LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145) Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183) AGAGAAGTCTGAAGAGGAGACTTCA 0.371 T EWSR1 clear cell sarcoma|angiomatoid fibrous histiocytoma XRCC5 7520 broad.mit.edu 37 2 216995664 216995664 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr2:216995664C>T uc002vfy.2 + 9 1144 c.1004C>T c.(1003-1005)TCG>TTG p.S335L XRCC5_uc002vfz.2_Missense_Mutation_p.S221L NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 335 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AAATATAAATCGGAGGGGAAG 0.368 Direct_reversal_of_damage|NHEJ FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G A A rs7266938 by1000genomes TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr20:29625877G>A uc010ztl.1 + 2 63 c.31G>A c.(31-33)GCC>ACC p.A11T FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Intron Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 GTACAGAATCGCCCTGAAATC 0.353 LIPI 149998 broad.mit.edu 37 21 15561699 15561699 + Missense_Mutation SNP T C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr21:15561699T>C uc002yjm.2 - 2 161 c.151A>G c.(151-153)AAG>GAG p.K51E LIPI_uc010gkw.1_5'UTR NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 30 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AAGGAATCCTTTACACTTAGC 0.358 SRGAP3 9901 broad.mit.edu 37 3 9055068 9055068 + Nonsense_Mutation SNP C A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr3:9055068C>A uc003brf.1 - 17 2747 c.2071G>T c.(2071-2073)GAA>TAA p.E691* SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667* NM_014850 NP_055665 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 691 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(4) central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AAGATGGCTTCATGATGGATG 0.512 T RAF1 pilocytic astrocytoma FANCD2 2177 broad.mit.edu 37 3 10107617 10107617 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr3:10107617C>T uc003buw.2 + 25 2417 c.2339C>T c.(2338-2340)TCA>TTA p.S780L FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 780 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) AAAGAGCGTTCATTCATGTGT 0.403 D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia SDHAP2 727956 broad.mit.edu 37 3 195400795 195400795 + Missense_Mutation SNP C T T rs7615357 by1000genomes TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr3:195400795C>T uc003fuw.2 + 9 1285 c.91C>T c.(91-93)CGC>TGC p.R31C SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GGGGCAAACTCGCTGTTGGAC 0.592 SDHAP2 727956 broad.mit.edu 37 3 195400799 195400799 + Missense_Mutation SNP G A A rs7635172 by1000genomes TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr3:195400799G>A uc003fuw.2 + 9 1289 c.95G>A c.(94-96)TGT>TAT p.C32Y SDHAP2_uc011btb.1_Silent_p.L179L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 CAAACTCGCTGTTGGACCTGG 0.597 KIAA1211 57482 broad.mit.edu 37 4 57189557 57189557 + Nonsense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr4:57189557C>T uc003hbk.2 + 9 3593 c.3202C>T c.(3202-3204)CAG>TAG p.Q1068* KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061* NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 1068 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GCCGATGCTTCAGAGCAGACA 0.468 ALB 213 broad.mit.edu 37 4 74283255 74283255 + Missense_Mutation SNP G T T rs141626688 TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr4:74283255G>T uc003hgs.3 + 11 1370 c.1297G>T c.(1297-1299)GTT>TTT p.V433F ALB_uc003hgw.3_Missense_Mutation_p.V241F|ALB_uc011cbe.1_Missense_Mutation_p.V112F|ALB_uc003hgt.3_Missense_Mutation_p.V433F|ALB_uc010iii.2_Missense_Mutation_p.V318F|ALB_uc003hgu.3_Missense_Mutation_p.V283F|ALB_uc003hgv.3_Missense_Mutation_p.V112F|ALB_uc011cbf.1_Missense_Mutation_p.V323F|ALB_uc010iij.2_Intron|ALB_uc003hgx.3_Missense_Mutation_p.V112F NM_000477 NP_000468 P02768 ALBU_HUMAN albumin preproprotein 433 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding ovary(3)|skin(3) 6 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CAGGCTATTAGTTCGTTACAC 0.398 ATP10B 23120 broad.mit.edu 37 5 160063304 160063304 + Nonsense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr5:160063304C>T uc003lym.1 - 11 1860 c.1013G>A c.(1012-1014)TGG>TAG p.W338* ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.2_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310* NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 338 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGTCCCATTCCAGATGCTGTG 0.498 CLIC5 53405 broad.mit.edu 37 6 45882089 45882089 + Missense_Mutation SNP G C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr6:45882089G>C uc003oxv.3 - 5 1047 c.941C>G c.(940-942)CCT>CGT p.P314R CLIC5_uc003oxu.3_Missense_Mutation_p.P155R|CLIC5_uc003oxw.2_RNA|CLIC5_uc003oxx.2_Missense_Mutation_p.P155R NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 314 GST C-terminal. female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 CTCTGGTAGAGGGGTGTTCAG 0.512 SNAP91 9892 broad.mit.edu 37 6 84284736 84284736 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr6:84284736G>A uc011dze.1 - 25 2752 c.2435C>T c.(2434-2436)GCA>GTA p.A812V SNAP91_uc011dzd.1_Missense_Mutation_p.A310V|SNAP91_uc003pkb.2_Missense_Mutation_p.A721V|SNAP91_uc003pkc.2_Missense_Mutation_p.A782V|SNAP91_uc003pkd.2_Missense_Mutation_p.A505V|SNAP91_uc003pka.2_Missense_Mutation_p.A810V NM_014841 NP_055656 O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa homolog 812 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding ovary(1) 1 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) TACCAAAGGTGCACTTGGTGG 0.522 EGFR 1956 broad.mit.edu 37 7 55214319 55214319 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr7:55214319C>T uc003tqk.2 + 4 691 c.445C>T c.(445-447)CGG>TGG p.R149W EGFR_uc003tqh.2_Missense_Mutation_p.R149W|EGFR_uc003tqi.2_Missense_Mutation_p.R149W|EGFR_uc003tqj.2_Missense_Mutation_p.R149W|EGFR_uc010kzg.1_Intron|EGFR_uc011kco.1_Missense_Mutation_p.R96W NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 149 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.V30_R297>G(5) 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) TGGCGCCGTGCGGTTCAGCAA 0.532 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PIK3CG 5294 broad.mit.edu 37 7 106508473 106508473 + Missense_Mutation SNP C T T TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr7:106508473C>T uc003vdv.3 + 2 552 c.467C>T c.(466-468)GCG>GTG p.A156V PIK3CG_uc003vdu.2_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A156V NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 156 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CAGCTCACGGCGCTGATTGGC 0.682 POLR3D 661 broad.mit.edu 37 8 22106786 22106786 + Silent SNP C T T rs139222181 byFrequency TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr8:22106786C>T uc003xbl.2 + 7 968 c.885C>T c.(883-885)GAC>GAT p.D295D POLR3D_uc003xbm.2_Silent_p.D295D|POLR3D_uc011kze.1_Intron NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide 295 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AGGGCGAGGACGGACAGGTGG 0.597 MLLT3 4300 broad.mit.edu 37 9 20448206 20448206 + Frame_Shift_Del DEL G - - TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr9:20448206delG uc003zoe.2 - 4 594 c.335delC c.(334-336)CCAfs p.P112fs MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.2_Intron|MLLT3_uc011lng.1_Frame_Shift_Del_p.P80fs NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 112 YEATS. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ATTCACTGGTGGATGGCCTTC 0.448 T MLL ALL OR1B1 347169 broad.mit.edu 37 9 125391091 125391091 + Nonsense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chr9:125391091G>A uc011lyz.1 - 1 724 c.724C>T c.(724-726)CGA>TGA p.R242* NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 242 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAGACTGCTCGGCGGCGACCA 0.557 NUDT11 55190 broad.mit.edu 37 X 51239120 51239120 + Silent SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chrX:51239120G>A uc010njt.2 - 1 340 c.177C>T c.(175-177)GGC>GGT p.G59G NM_018159 NP_060629 Q96G61 NUD11_HUMAN nudix-type motif 11 59 Nudix box.|Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 Ovarian(276;0.236) CCGCCGCACCGCCCGGCTCCT 0.662 HNSCC(48;0.14) STAG2 10735 broad.mit.edu 37 X 123197901 123197901 + Missense_Mutation SNP G C C TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chrX:123197901G>C uc004etz.3 + 19 2364 c.2025G>C c.(2023-2025)GAG>GAC p.E675D STAG2_uc004eua.2_Missense_Mutation_p.E675D|STAG2_uc004eub.2_Missense_Mutation_p.E675D|STAG2_uc004euc.2_Missense_Mutation_p.E675D|STAG2_uc004eud.2_Missense_Mutation_p.E675D|STAG2_uc004eue.2_Missense_Mutation_p.E675D NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 675 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TTCTGCAAGAGGTATATATTA 0.358 DDX26B 203522 broad.mit.edu 37 X 134679466 134679466 + Missense_Mutation SNP G A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chrX:134679466G>A uc004eyw.3 + 3 671 c.308G>A c.(307-309)AGA>AAA p.R103K NM_182540 NP_872346 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 103 VWFA. 0 Acute lymphoblastic leukemia(192;6.56e-05) AATCTCAATAGATTAATATCT 0.353 SAGE1 55511 broad.mit.edu 37 X 134993470 134993470 + Missense_Mutation SNP T A A TCGA-06-2561-01A-02D-1494-08 TCGA-06-2561-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx f9898ad3-f9b6-4061-90ef-30e0eab0a706 3ba723ff-f198-433e-90f9-7bc0f3a0aa7a g.chrX:134993470T>A uc004ezh.2 + 17 2292 c.2125T>A c.(2125-2127)TGC>AGC p.C709S SAGE1_uc010nry.1_Missense_Mutation_p.C678S|SAGE1_uc011mvv.1_Missense_Mutation_p.C333S NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 709 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) TGGTATTTCATGCAGAAGTAC 0.453