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 SPTA1 6708 broad.mit.edu 37 1 158585171 158585171 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr1:158585171G>A uc001fst.1 - 48 6822 c.6623C>T c.(6622-6624)GCG>GTG p.A2208V NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2208 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACGCTTCATCGCCTGGATCTC 0.468 SERPINC1 462 broad.mit.edu 37 1 173878724 173878724 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr1:173878724G>A uc001gjt.2 - 5 1238 c.1119C>T c.(1117-1119)GTC>GTT p.V373V NM_000488 NP_000479 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C, member 1 373 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(1) 1 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TGAACAGATCGACAAGGCCCA 0.527 SYT2 127833 broad.mit.edu 37 1 202566072 202566072 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr1:202566072G>A uc001gye.2 - 9 1266 c.1073C>T c.(1072-1074)ACC>ATC p.T358I SYT2_uc010pqb.1_Missense_Mutation_p.T358I|SYT2_uc009xaf.2_Missense_Mutation_p.T188I NM_001136504 NP_001129976 Q8N9I0 SYT2_HUMAN synaptotagmin II 358 Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GTCCAGCACGGTGACCACTAC 0.547 HSD11B1 3290 broad.mit.edu 37 1 209907741 209907741 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr1:209907741C>T uc001hhj.2 + 7 861 c.754C>T c.(754-756)CGC>TGC p.R252C HSD11B1_uc001hhk.2_Missense_Mutation_p.R252C NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 252 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GGGAGCTCTGCGCCAAGAAGA 0.463 RYR2 6262 broad.mit.edu 37 1 237777626 237777626 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr1:237777626C>T uc001hyl.1 + 37 5318 c.5198C>T c.(5197-5199)ACG>ATG p.T1733M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1733 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACGGAGGAGACGAAGAGCATC 0.557 PTEN 5728 broad.mit.edu 37 10 89690819 89690820 + Frame_Shift_Del DEL TA - - TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr10:89690819_89690820delTA uc001kfb.2 + 5 1257_1258 c.226_227delTA c.(226-228)TATfs p.Y76fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 76 Phosphatase 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.Y76fs*1(12)|p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.Y76del(1)|p.H75_T78del(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGAAAGACATTATGACACCGCC 0.272 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) HSPA12A 259217 broad.mit.edu 37 10 118439024 118439024 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr10:118439024G>A uc001lct.2 - 10 1381 c.1276C>T c.(1276-1278)CGG>TGG p.R426W HSPA12A_uc001lcu.2_Missense_Mutation_p.R343W NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 426 ATP binding ovary(1) 1 all cancers(201;0.0158) TTGCTTTTCCGCAAGGCGTGC 0.547 JAKMIP3 282973 broad.mit.edu 37 10 133949482 133949482 + Frame_Shift_Del DEL A - - TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr10:133949482delA uc001lkx.3 + 5 1018 c.1018delA c.(1018-1020)AAAfs p.K340fs NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) TCTGCTGGATAAAAACAAGCG 0.443 KCNQ1 3784 broad.mit.edu 37 11 2466624 2466624 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr11:2466624C>T uc001lwn.2 + 1 404 c.296C>T c.(295-297)CCG>CTG p.P99L KCNQ1_uc009ydo.1_Missense_Mutation_p.P99L NM_000218 NP_000209 P51787 KCNQ1_HUMAN potassium voltage-gated channel, KQT-like 99 TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding ovary(1) 1 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) ACGCGCCGCCCGGTGTTGGCG 0.582 OR5M8 219484 broad.mit.edu 37 11 56258561 56258561 + Missense_Mutation SNP A G G TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr11:56258561A>G uc001nix.1 - 1 286 c.286T>C c.(286-288)TGT>CGT p.C96R NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 96 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TGCACAAGACAGGCAGGATAG 0.473 VWF 7450 broad.mit.edu 37 12 6122757 6122757 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr12:6122757C>T uc001qnn.1 - 32 5760 c.5510G>A c.(5509-5511)CGG>CAG p.R1837Q VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 1837 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) TGCCAAGATCCGTAGCTGGGC 0.532 TAS2R13 50838 broad.mit.edu 37 12 11061487 11061487 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr12:11061487G>A uc001qzg.1 - 1 675 c.411C>T c.(409-411)ACC>ACT p.T137T PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 137 Helical; Name=4; (Potential). sensory perception of taste integral to membrane taste receptor activity breast(1)|skin(1) 2 AGAAGACCAAGGTTCCTAGCA 0.353 TRPV4 59341 broad.mit.edu 37 12 110236432 110236432 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr12:110236432G>A uc001tpj.1 - 5 1234 c.1139C>T c.(1138-1140)ACG>ATG p.T380M TRPV4_uc001tpg.1_Missense_Mutation_p.T346M|TRPV4_uc001tph.1_Missense_Mutation_p.T333M|TRPV4_uc001tpi.1_Missense_Mutation_p.T333M|TRPV4_uc001tpk.1_Missense_Mutation_p.T380M|TRPV4_uc001tpl.1_Missense_Mutation_p.T380M NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 380 Cytoplasmic (Potential).|ANK 3. actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AATCTTGCCCGTCTTGGCAGC 0.612 HPD 3242 broad.mit.edu 37 12 122292681 122292681 + Silent SNP G A A rs61742674 byFrequency TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr12:122292681G>A uc001ubj.2 - 7 382 c.342C>T c.(340-342)GGC>GGT p.G114G HPD_uc001ubk.2_Silent_p.G75G NM_002150 NP_002141 P32754 HPPD_HUMAN 4-hydroxyphenylpyruvate dioxygenase 114 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) TGATTTTGGCGCCCCGTTCCC 0.597 COL4A1 1282 broad.mit.edu 37 13 110895031 110895031 + Silent SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr13:110895031C>T uc001vqw.3 - 2 257 c.135G>A c.(133-135)AAG>AAA p.K45K COL4A1_uc010agl.2_Silent_p.K45K NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 45 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTTTTGTCCCTTCACTCCAT 0.408 KCNH5 27133 broad.mit.edu 37 14 63316465 63316465 + Missense_Mutation SNP A T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr14:63316465A>T uc001xfx.2 - 8 1526 c.1475T>A c.(1474-1476)CTA>CAA p.L492Q KCNH5_uc001xfy.2_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 492 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ATAGAGTTTTAGGAAGTCCCG 0.393 IGF1R 3480 broad.mit.edu 37 15 99250943 99250943 + Nonsense_Mutation SNP G T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr15:99250943G>T uc002bul.2 + 2 297 c.247G>T c.(247-249)GAG>TAG p.E83* IGF1R_uc010urq.1_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.2_Nonsense_Mutation_p.E83* NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 83 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGTCATTACCGAGTACTTGCT 0.597 WDR90 197335 broad.mit.edu 37 16 701986 701986 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr16:701986G>A uc002cii.1 + 9 1054 c.1000G>A c.(1000-1002)GTG>ATG p.V334M WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_RNA NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 334 ovary(1) 1 Hepatocellular(780;0.0218) CGGCACCCACGTGTTGACTCA 0.687 RHBDL1 9028 broad.mit.edu 37 16 727080 727080 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr16:727080G>A uc002cis.1 + 3 758 c.731G>A c.(730-732)CGC>CAC p.R244H RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 244 proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) CACCGTGCCCGCGCCTGGCGC 0.617 SLC12A4 6560 broad.mit.edu 37 16 67984224 67984224 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr16:67984224G>A uc002euz.2 - 12 1768 c.1627C>T c.(1627-1629)CGG>TGG p.R543W SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc010vkj.1_Missense_Mutation_p.R545W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_RNA NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 543 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGGCTCACCCGGAGGAAGGGG 0.642 CDH15 1013 broad.mit.edu 37 16 89261311 89261311 + Silent SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr16:89261311C>T uc002fmt.2 + 14 2270 c.2193C>T c.(2191-2193)TAC>TAT p.Y731Y NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 731 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) TGCCGCCTTACGACACAGCCC 0.637 DNAH9 1770 broad.mit.edu 37 17 11648135 11648135 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr17:11648135C>T uc002gne.2 + 31 6201 c.6133C>T c.(6133-6135)CGG>TGG p.R2045W DNAH9_uc010coo.2_Missense_Mutation_p.R1339W NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2045 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTGGGGCCTACGGGCCATCAA 0.557 SNX11 29916 broad.mit.edu 37 17 46198838 46198838 + Missense_Mutation SNP C A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr17:46198838C>A uc002inf.1 + 8 1135 c.781C>A c.(781-783)CCT>ACT p.P261T SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc002inh.1_Missense_Mutation_p.P261T NM_152244 NP_689450 Q9Y5W9 SNX11_HUMAN sorting nexin 11 261 cell communication|protein transport membrane phosphatidylinositol binding 0 GCCTTTGGACCCTGGTCAGTT 0.522 TNRC6C 57690 broad.mit.edu 37 17 76089149 76089149 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr17:76089149G>A uc002jud.2 + 16 4706 c.4106G>A c.(4105-4107)CGT>CAT p.R1369H TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 1369 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCTGGTCACGTGCCAAATCT 0.502 UTS2R 2837 broad.mit.edu 37 17 80332216 80332216 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr17:80332216G>A uc010wvl.1 + 1 16 c.16G>A c.(16-18)GAG>AAG p.E6K NM_018949 NP_061822 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 6 Extracellular (Potential). integral to membrane|plasma membrane breast(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GCTGACCCCCGAGTCCCCGAG 0.721 LAMA1 284217 broad.mit.edu 37 18 7023335 7023335 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr18:7023335G>A uc002knm.2 - 19 2623 c.2529C>T c.(2527-2529)GGC>GGT p.G843G LAMA1_uc010wzj.1_Silent_p.G319G NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 843 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACAAGATTCGCCAGGCACTG 0.527 MUC16 94025 broad.mit.edu 37 19 9063659 9063659 + Silent SNP A T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:9063659A>T uc002mkp.2 - 3 23991 c.23787T>A c.(23785-23787)TCT>TCA p.S7929S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7931 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCATTGTCAAAGAGGTTGTGC 0.458 FFAR1 2864 broad.mit.edu 37 19 35842837 35842837 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:35842837C>T uc002nzc.2 + 1 393 c.383C>T c.(382-384)GCG>GTG p.A128V NM_005303 NP_005294 O14842 FFAR1_HUMAN free fatty acid receptor 1 128 Helical; Name=4; (Potential). energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1) 1 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GGGGTGTGCGCGGCCATCTGG 0.667 ZFP82 284406 broad.mit.edu 37 19 36884449 36884449 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:36884449C>T uc002ody.1 - 5 1028 c.793G>A c.(793-795)GTA>ATA p.V265I NM_133466 NP_597723 Q8N141 ZFP82_HUMAN zinc finger protein 82 homolog 265 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 TGTCCTCGTACCCTAAAAGCC 0.433 MEIS3 56917 broad.mit.edu 37 19 47910342 47910342 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:47910342G>A uc002pgu.2 - 10 1435 c.988C>T c.(988-990)CGC>TGC p.R330C MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Missense_Mutation_p.R129C|MEIS3_uc002pgp.2_Missense_Mutation_p.R162C|MEIS3_uc002pgq.2_Missense_Mutation_p.R411C|MEIS3_uc002pgr.2_Missense_Mutation_p.R198C|MEIS3_uc002pgt.2_Missense_Mutation_p.R313C|MEIS3_uc002pgv.2_Missense_Mutation_p.R359C|MEIS3_uc002pgs.2_Missense_Mutation_p.R376C|MEIS3_uc010eld.2_Missense_Mutation_p.R376C NM_001009813 NP_001009813 Q99687 MEIS3_HUMAN Meis1, myeloid ecotropic viral integration site 330 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) GTACCTGTGCGGTTGGATTGA 0.612 SIGLEC5 8778 broad.mit.edu 37 19 52129355 52129355 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:52129355C>T uc002pxe.2 - 8 1533 c.1394G>A c.(1393-1395)CGC>CAC p.R465H NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 465 Cytoplasmic (Potential). cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TTGCTTCCTGCGGGCTTTCAC 0.527 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:53856730G>A uc010ydv.1 + 4 2919 c.2802G>A c.(2800-2802)AAG>AAA p.K934K ZNF845_uc010ydw.1_Silent_p.K934K NM_138374 NP_612383 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 C2H2-type 26. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAATTCATAAGACAATTCATA 0.368 ZNF419 79744 broad.mit.edu 37 19 58004984 58004984 + Silent SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:58004984C>T uc002qov.2 + 5 1299 c.1059C>T c.(1057-1059)AGC>AGT p.S353S ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Silent_p.S354S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 353 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) AATTCTATAGCCACAAGTCCA 0.413 ZNF773 374928 broad.mit.edu 37 19 58018486 58018486 + Silent SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr19:58018486C>T uc002qox.2 + 4 1163 c.1023C>T c.(1021-1023)AGC>AGT p.S341S ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Silent_p.S340S|ZNF773_uc002qoz.2_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN zinc finger protein 773 341 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AATTCTATAGCCACAAGTCCA 0.418 C2orf16 84226 broad.mit.edu 37 2 27803330 27803330 + Silent SNP T C C TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr2:27803330T>C uc002rkz.3 + 1 3942 c.3891T>C c.(3889-3891)CTT>CTC p.L1297L ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 1297 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) CCAAGCGACTTAGAAAACACA 0.403 SNRNP200 23020 broad.mit.edu 37 2 96964138 96964138 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr2:96964138C>T uc002svu.2 - 9 1089 c.1003G>A c.(1003-1005)GCC>ACC p.A335T NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 335 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TGTGCACTGGCCAGCAAGGTA 0.433 TBR1 10716 broad.mit.edu 37 2 162280004 162280004 + Missense_Mutation SNP A G G TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr2:162280004A>G uc002ubw.1 + 6 1617 c.1315A>G c.(1315-1317)AAC>GAC p.N439D TBR1_uc010foy.2_Missense_Mutation_p.N152D NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 439 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GTTCGTGAGCAACTACGCCAA 0.597 TTN 7273 broad.mit.edu 37 2 179542633 179542633 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr2:179542633G>A uc010zfg.1 - 143 30498 c.30274C>T c.(30274-30276)CGT>TGT p.R10092C TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 11019 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) ACTGGTTCACGTTTCTTTGGC 0.363 PDE1A 5136 broad.mit.edu 37 2 183053766 183053766 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr2:183053766C>T uc002uos.2 - 12 1279 c.1195G>A c.(1195-1197)GGG>AGG p.G399R PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.2_Missense_Mutation_p.G383R|PDE1A_uc002uou.2_Missense_Mutation_p.G365R NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 399 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) AATGGAAGCCCTAATTCAGCT 0.413 C20orf27 54976 broad.mit.edu 37 20 3735070 3735070 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr20:3735070C>T uc002wji.1 - 5 627 c.398G>A c.(397-399)CGC>CAC p.R133H C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wjh.1_Missense_Mutation_p.R158H NM_001039140 NP_001034229 Q9GZN8 CT027_HUMAN hypothetical protein LOC54976 133 0 CACCGTCACGCGCACACAGGT 0.602 HAO1 54363 broad.mit.edu 37 20 7864254 7864254 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr20:7864254C>T uc002wmw.1 - 8 1123 c.1099G>A c.(1099-1101)GTT>ATT p.V367I NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 367 cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 ATCTTGGAAACGGCCAAAGGA 0.373 TMEM90B 79953 broad.mit.edu 37 20 24565630 24565630 + Splice_Site SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr20:24565630G>A uc002wtw.1 + 3 1251 c.618_splice c.e3+1 p.E206_splice NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 GTCCCATGAGGTAAGGCCTCC 0.627 PTK6 5753 broad.mit.edu 37 20 62168644 62168644 + Missense_Mutation SNP G T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr20:62168644G>T uc002yfg.2 - 1 64 c.24C>A c.(22-24)CAC>CAA p.H8Q PTK6_uc011aay.1_5'UTR|PTK6_uc011aba.1_Missense_Mutation_p.H8Q NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 8 cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) TGGGGCCCAGGTGAGCCTGGT 0.716 KRTAP13-2 337959 broad.mit.edu 37 21 31744289 31744289 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr21:31744289G>A uc002ynz.3 - 1 269 c.243C>T c.(241-243)TAC>TAT p.Y81Y NM_181621 NP_853652 Q52LG2 KR132_HUMAN keratin associated protein 13-2 81 4.|5 X 10 AA approximate repeats. intermediate filament 0 TTCTGGGGCGGTAGCAGGAGG 0.602 KRTAP10-12 386685 broad.mit.edu 37 21 46117748 46117748 + Missense_Mutation SNP T C C TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr21:46117748T>C uc002zfw.1 + 1 662 c.632T>C c.(631-633)GTC>GCC p.V211A C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198699 NP_941972 P60413 KR10C_HUMAN keratin associated protein 10-12 211 19 X 5 AA repeats of C-C-X(3). keratin filament 0 CGCGTGCCCGTCCCCTCCTGC 0.726 STXBP5L 9515 broad.mit.edu 37 3 121126274 121126274 + Missense_Mutation SNP G C C TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr3:121126274G>C uc003eec.3 + 24 2984 c.2844G>C c.(2842-2844)CAG>CAC p.Q948H STXBP5L_uc011bji.1_Missense_Mutation_p.Q924H NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 948 WD 12. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) GAGATCATCAGTATACAATAA 0.378 DNAJB11 51726 broad.mit.edu 37 3 186302367 186302367 + Frame_Shift_Del DEL A - - TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr3:186302367delA uc003fqi.2 + 9 1221 c.1001delA c.(1000-1002)GAAfs p.E334fs NM_016306 NP_057390 Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 334 protein folding endoplasmic reticulum lumen heat shock protein binding ovary(1)|lung(1) 2 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTAACAGAGGAAGCGAGAGAA 0.303 UGT2B4 7363 broad.mit.edu 37 4 70361103 70361103 + Silent SNP C G G TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr4:70361103C>G uc003hek.3 - 1 524 c.477G>C c.(475-477)CTG>CTC p.L159L UGT2B4_uc011cap.1_Silent_p.L23L|UGT2B4_uc003hel.3_Silent_p.L159L NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 159 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 ACTCGGCCAGCAGCTCACCAA 0.428 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A G G TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr4:146059041A>G uc003ika.3 - 21 2829 c.2691T>C c.(2689-2691)CAT>CAC p.H897H OTUD4_uc003ijz.3_Silent_p.H896H NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 961 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478 IRX1 79192 broad.mit.edu 37 5 3601124 3601124 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr5:3601124G>A uc003jde.2 + 4 1465 c.1413G>A c.(1411-1413)CCG>CCA p.P471P NM_024337 NP_077313 P78414 IRX1_HUMAN iroquois homeobox protein 1 471 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 AGGGAACGCCGCGGATCCTAG 0.652 TARS 6897 broad.mit.edu 37 5 33461376 33461376 + Missense_Mutation SNP C G G TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr5:33461376C>G uc003jhy.2 + 13 1822 c.1527C>G c.(1525-1527)ATC>ATG p.I509M TARS_uc011cob.1_Missense_Mutation_p.I497M|TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.1_Missense_Mutation_p.I530M|TARS_uc003jhz.2_Missense_Mutation_p.I405M|TARS_uc011cod.1_Missense_Mutation_p.I388M NM_152295 NP_689508 P26639 SYTC_HUMAN threonyl-tRNA synthetase 509 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity ovary(2) 2 L-Threonine(DB00156) TTGGAGATATCGAAGTATGGG 0.373 RPS12 6206 broad.mit.edu 37 6 133137703 133137703 + Splice_Site SNP G T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr6:133137703G>T uc003qdx.2 + 4 316 c.234_splice c.e4+1 p.K78_splice RPS12_uc003qdy.1_3'UTR NM_001016 NP_001007 P25398 RS12_HUMAN ribosomal protein S12 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit structural constituent of ribosome 0 Breast(56;0.214) OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256) CCTAATTAAGGTAAGGCTGCT 0.438 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82784773 82784773 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr7:82784773G>A uc003uhx.2 - 2 1473 c.1184C>T c.(1183-1185)CCT>CTT p.P395L PCLO_uc003uhv.2_Missense_Mutation_p.P395L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 346 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCCAACTCCAGGAGGCTGAGC 0.592 GATA4 2626 broad.mit.edu 37 8 11607632 11607632 + Nonsense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr8:11607632C>T uc003wuc.2 + 4 1350 c.796C>T c.(796-798)CGA>TGA p.R266* GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc011kxc.1_Nonsense_Mutation_p.R267* NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 266 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CGCCTCCCGCCGAGTGGGCCT 0.632 SLC18A1 6570 broad.mit.edu 37 8 20022464 20022464 + Missense_Mutation SNP A T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr8:20022464A>T uc011kyq.1 - 11 1402 c.931T>A c.(931-933)TTT>ATT p.F311I SLC18A1_uc003wzl.2_Missense_Mutation_p.F98I|SLC18A1_uc003wzm.2_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.1_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.2_Intron|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Intron NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 311 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) ATGTTGGCAAAGCAGATGGAC 0.612 MRPL13 28998 broad.mit.edu 37 8 121432169 121432170 + Frame_Shift_Ins INS - T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr8:121432169_121432170insT uc003ypa.2 - 5 628_629 c.315_316insA c.(313-318)AAACTAfs p.K105fs MRPL13_uc010mdf.2_RNA NM_014078 NP_054797 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 105_106 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1) 1 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TAAATAGCTAGTTTTACAATCT 0.356 RANBP6 26953 broad.mit.edu 37 9 6012658 6012658 + Missense_Mutation SNP T G G TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr9:6012658T>G uc003zjr.2 - 1 2961 c.2950A>C c.(2950-2952)ATA>CTA p.I984L RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 984 HEAT 7. protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) ATCTTCCCTATTGCTGAGATA 0.363 AQP7 364 broad.mit.edu 37 9 33385701 33385701 + Missense_Mutation SNP T C C TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chr9:33385701T>C uc003zst.2 - 7 861 c.689A>G c.(688-690)GAC>GGC p.D230G SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Missense_Mutation_p.D173G|AQP7_uc010mjs.2_Missense_Mutation_p.D138G|AQP7_uc010mjt.2_Missense_Mutation_p.D138G|AQP7_uc011lnx.1_Missense_Mutation_p.D230G|AQP7_uc011lny.1_Missense_Mutation_p.D229G|AQP7_uc003zss.3_Missense_Mutation_p.D138G|AQP7_uc011lnz.1_Missense_Mutation_p.D138G|AQP7_uc011loa.1_Silent_p.G98G NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 230 Extracellular (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) GGGGGGCAGGTCCCGGGACGG 0.587 EGFL6 25975 broad.mit.edu 37 X 13637337 13637337 + Silent SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:13637337G>A uc004cvi.2 + 9 1398 c.1158G>A c.(1156-1158)GCG>GCA p.A386A EGFL6_uc004cvj.2_Silent_p.A386A|EGFL6_uc011mik.1_Silent_p.A287A NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 386 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 AAAGGAAAGCGCTAACTTCCA 0.388 RPS6KA3 6197 broad.mit.edu 37 X 20193367 20193367 + Missense_Mutation SNP A T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:20193367A>T uc004czu.2 - 14 1142 c.1142T>A c.(1141-1143)CTT>CAT p.L381H RPS6KA3_uc011mjk.1_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.2_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.1_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.1_Missense_Mutation_p.L353H NM_004586 NP_004577 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 381 AGC-kinase C-terminal. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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 cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity p.L381H(1) central_nervous_system(4)|stomach(1)|ovary(1)|lung(1)|breast(1) 8 CCCCCGAAAAAGCTGATGTGC 0.393 XK 7504 broad.mit.edu 37 X 37553630 37553630 + Missense_Mutation SNP G T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:37553630G>T uc004ddq.2 + 2 419 c.337G>T c.(337-339)GGC>TGC p.G113C NM_021083 NP_066569 P51811 XK_HUMAN membrane transport protein XK 113 Extracellular (Potential). amino acid transport integral to membrane protein binding|transporter activity 0 all_lung(315;0.175) GCCAAAAAATGGCCTCTCAGA 0.488 SYP 6855 broad.mit.edu 37 X 49048172 49048172 + Missense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:49048172C>T uc004dmz.1 - 6 680 c.664G>A c.(664-666)GTG>ATG p.V222M SYP_uc011mmz.1_Missense_Mutation_p.V104M|SYP_uc004dna.1_Missense_Mutation_p.V216M NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 222 Helical; (Potential).|MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity p.V222M(1) ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) TCCTTAAACACGAACCACAGG 0.682 AWAT1 158833 broad.mit.edu 37 X 69455983 69455983 + Silent SNP C A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:69455983C>A uc004dxy.2 + 3 290 c.249C>A c.(247-249)CCC>CCA p.P83P NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN wax synthase 1 83 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity ovary(3) 3 ACTATTTCCCCATTACGGTAA 0.483 NONO 4841 broad.mit.edu 37 X 70516705 70516705 + Nonsense_Mutation SNP C T T TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:70516705C>T uc004dzo.2 + 8 1461 c.751C>T c.(751-753)CGA>TGA p.R251* BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Nonsense_Mutation_p.R251*|NONO_uc004dzp.2_Nonsense_Mutation_p.R251*|NONO_uc011mpv.1_Nonsense_Mutation_p.R162*|NONO_uc004dzq.2_Nonsense_Mutation_p.R120* NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 251 DBHS. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) CTATAGGGAACGAGAGCAGCC 0.493 T TFE3 papillary renal cancer GPR101 83550 broad.mit.edu 37 X 136113395 136113395 + Missense_Mutation SNP G A A TCGA-06-0157-01A-01D-1491-08 TCGA-06-0157-10A-01D-1491-08 Somatic Phase_I Capture Illumina GAIIx b1e62d8e-24d2-4118-8cd0-3142acebdd5b e3c99625-890c-48a0-8926-713cc7bfddf2 g.chrX:136113395G>A uc011mwh.1 - 1 439 c.439C>T c.(439-441)CGC>TGC p.R147C NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 147 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) AGGTAACCGCGGCGCTGGGTC 0.597