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 CASZ1 54897 broad.mit.edu 37 1 10713867 10713867 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:10713867C>T uc001aro.2 - 11 2567 c.2247G>A c.(2245-2247)GCG>GCA p.A749A CASZ1_uc001arp.1_Silent_p.A749A|CASZ1_uc009vmx.2_Silent_p.A773A NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 749 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CAGCCAGGGACGCAGAGGACT 0.667 GLIS1 148979 broad.mit.edu 37 1 54059816 54059816 + Nonsense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:54059816G>A uc001cvr.1 - 3 1327 c.760C>T c.(760-762)CGA>TGA p.R254* NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 254 C2H2-type 2; atypical. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GAGTGCACTCGCATGTGGATG 0.652 INADL 10207 broad.mit.edu 37 1 62228837 62228837 + Frame_Shift_Del DEL C - - TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:62228837delC uc001dab.2 + 3 289 c.175delC c.(175-177)CAAfs p.Q59fs INADL_uc009waf.1_Frame_Shift_Del_p.Q59fs|INADL_uc001daa.2_Frame_Shift_Del_p.Q59fs NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 59 L27. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GTCCATCAAGCAACTGAAGGG 0.363 ITGA10 8515 broad.mit.edu 37 1 145532131 145532131 + Nonsense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:145532131C>T uc001eoa.2 + 8 851 c.775C>T c.(775-777)CAG>TAG p.Q259* NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Nonsense_Mutation_p.Q128*|ITGA10_uc009wiw.2_Nonsense_Mutation_p.Q116*|ITGA10_uc010oyw.1_Nonsense_Mutation_p.Q204* NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 259 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AGGGTTCAGTCAGTCCCATGG 0.443 CRTC2 200186 broad.mit.edu 37 1 153923904 153923904 + Silent SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:153923904G>A uc010ped.1 - 11 1306 c.1236C>T c.(1234-1236)GGC>GGT p.G412G CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Intron NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 412 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2) 2 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AAGAGGGGGCGCCCAAAACAG 0.592 C1orf69 200205 broad.mit.edu 37 1 228362896 228362896 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:228362896C>T uc001hsl.3 + 3 842 c.753C>T c.(751-753)AAC>AAT p.N251N C1orf69_uc010pvw.1_Silent_p.N58N NM_001010867 NP_001010867 Q5T440 CAF17_HUMAN hypothetical protein LOC200205 precursor 251 glycine catabolic process|heme biosynthetic process mitochondrion aminomethyltransferase activity 0 Prostate(94;0.0405) CCTTCATGAACGGCGTGAGCT 0.647 ZNF496 84838 broad.mit.edu 37 1 247464120 247464120 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:247464120C>T uc001ico.2 - 9 1930 c.1465G>A c.(1465-1467)GAC>AAC p.D489N ZNF496_uc009xgv.2_Missense_Mutation_p.D525N|ZNF496_uc001icp.2_Missense_Mutation_p.D489N NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 489 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TGGAGTCTGTCCGGCTGCAGG 0.642 OR2G6 391211 broad.mit.edu 37 1 248685052 248685052 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr1:248685052C>T uc001ien.1 + 1 105 c.105C>T c.(103-105)TAC>TAT p.Y35Y NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 35 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTACTTCTACGTCTTGAGCC 0.463 PTEN 5728 broad.mit.edu 37 10 89720831 89720831 + Frame_Shift_Del DEL G - - TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr10:89720831delG uc001kfb.2 + 9 2013 c.982delG c.(982-984)GCAfs p.A328fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 328 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TCTTGACAAAGCAAATAAAGA 0.333 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) MUC5B 727897 broad.mit.edu 37 11 1283520 1283520 + Missense_Mutation SNP A C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr11:1283520A>C uc009ycr.1 + 72 18404 c.18278A>C c.(18277-18279)GAC>GCC p.D6093A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:Variant_position_missing_in_Q9HC84_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCAGTCCAGGACCCCCAGCAG 0.657 LRRC32 2615 broad.mit.edu 37 11 76371805 76371805 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr11:76371805G>A uc001oxq.3 - 3 1075 c.832C>T c.(832-834)CGG>TGG p.R278W LRRC32_uc001oxr.3_Missense_Mutation_p.R278W|LRRC32_uc010rsf.1_Missense_Mutation_p.R278W NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 278 LRR 10.|Extracellular (Potential). integral to plasma membrane 0 GTGGGGAGCCGGATGAGGTTG 0.652 GRAMD1B 57476 broad.mit.edu 37 11 123485469 123485469 + Silent SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr11:123485469G>A uc001pyx.2 + 16 2144 c.1815G>A c.(1813-1815)CGG>CGA p.R605R GRAMD1B_uc001pyw.2_Silent_p.R612R|GRAMD1B_uc010rzw.1_Silent_p.R565R|GRAMD1B_uc010rzx.1_Silent_p.R565R|GRAMD1B_uc001pyy.2_Silent_p.R296R NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 605 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) CACAGACGCGGCATATCCCGG 0.537 DDX11 1663 broad.mit.edu 37 12 31236988 31236988 + Missense_Mutation SNP G T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr12:31236988G>T uc001rjt.1 + 3 637 c.386G>T c.(385-387)CGA>CTA p.R129L DDX11_uc010sjw.1_Missense_Mutation_p.R129L|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.R129L|DDX11_uc001rjs.1_Missense_Mutation_p.R129L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R129L|DDX11_uc001rjw.1_Missense_Mutation_p.R103L NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 129 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CTGGTGGACCGACTAAAGGTG 0.587 Multiple Myeloma(12;0.14) PTPN11 5781 broad.mit.edu 37 12 112926909 112926909 + Missense_Mutation SNP A T T rs121918470 TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr12:112926909A>T uc001ttx.2 + 13 1909 c.1529A>T c.(1528-1530)CAG>CTG p.Q510L NM_002834 NP_002825 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 514 Tyrosine-protein phosphatase. Q -> P (in LEOPARD1). axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding p.Q510K(2)|p.Q510H(1) haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1) 392 ACAGAAGCACAGTACCGATTT 0.498 Mis JMML|AML|MDS Noonan Syndrome Noonan_syndrome DIAPH3 81624 broad.mit.edu 37 13 60686198 60686198 + Missense_Mutation SNP G T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr13:60686198G>T uc001vht.2 - 3 555 c.336C>A c.(334-336)AAC>AAA p.N112K DIAPH3_uc001vhw.1_Missense_Mutation_p.N101K|DIAPH3_uc010aed.1_Missense_Mutation_p.N101K|DIAPH3_uc010aee.1_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 112 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GCTTTGGAAAGTTCTCCATCA 0.403 MAP3K9 4293 broad.mit.edu 37 14 71205013 71205013 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr14:71205013G>A uc001xmm.2 - 8 1793 c.1793C>T c.(1792-1794)ACG>ATG p.T598M MAP3K9_uc010ttk.1_Missense_Mutation_p.T335M|MAP3K9_uc001xmk.2_Missense_Mutation_p.T340M|MAP3K9_uc001xml.2_Missense_Mutation_p.T598M NM_033141 NP_149132 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 598 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity stomach(2)|lung(1)|central_nervous_system(1)|skin(1) 5 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) TGGCCCCCACGTCCGTCCCTT 0.488 AHSA1 10598 broad.mit.edu 37 14 77930956 77930956 + Missense_Mutation SNP T A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr14:77930956T>A uc001xtw.2 + 5 648 c.488T>A c.(487-489)ATG>AAG p.M163K AHSA1_uc010tvk.1_Missense_Mutation_p.M163K NM_012111 NP_036243 O95433 AHSA1_HUMAN activator of heat shock 90kDa protein ATPase 163 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) ACCCAGGGCATGATCTTACCT 0.468 AHSA1 10598 broad.mit.edu 37 14 77930997 77930997 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr14:77930997G>A uc001xtw.2 + 5 689 c.529G>A c.(529-531)GGG>AGG p.G177R AHSA1_uc010tvk.1_Missense_Mutation_p.G177R NM_012111 NP_036243 O95433 AHSA1_HUMAN activator of heat shock 90kDa protein ATPase 177 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) AGACCCAGTGGGGCAGCCAGC 0.473 RPS6KA5 9252 broad.mit.edu 37 14 91372576 91372576 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr14:91372576G>A uc001xys.2 - 8 1089 c.874C>T c.(874-876)CGT>TGT p.R292C RPS6KA5_uc010twi.1_Missense_Mutation_p.R213C|RPS6KA5_uc001xyt.2_Missense_Mutation_p.R292C|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 292 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) ATCAAAAGACGCTGAATTAGG 0.383 SENP8 123228 broad.mit.edu 37 15 72432087 72432090 + Frame_Shift_Del DEL CAGT - - TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr15:72432087_72432090delCAGT uc002atp.2 + 2 222_225 c.123_126delCAGT c.(121-126)AACAGTfs p.N41fs NM_145204 NP_660205 Q96LD8 SENP8_HUMAN SUMO/sentrin specific peptidase family member 8 41_42 Protease. proteolysis cysteine-type peptidase activity|protein binding ovary(1)|skin(1) 2 ACTTTGCCAACAGTCAGTTTCATG 0.475 RHBDL1 9028 broad.mit.edu 37 16 726867 726867 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr16:726867G>A uc002cis.1 + 2 619 c.592G>A c.(592-594)GTG>ATG p.V198M RHBDL1_uc002cir.1_Missense_Mutation_p.V133M|RHBDL1_uc010uun.1_Missense_Mutation_p.V133M NM_003961 NP_003952 O75783 RHBL1_HUMAN rhomboid protease 1 198 Helical; (Potential). proteolysis|signal transduction integral to plasma membrane|membrane fraction calcium ion binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.0218) CCCACCCCCCGTGTTCATGGC 0.667 NOD2 64127 broad.mit.edu 37 16 50733737 50733737 + Missense_Mutation SNP C G G TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr16:50733737C>G uc002egm.1 + 2 517 c.412C>G c.(412-414)CGG>GGG p.R138G NOD2_uc010cbj.1_Missense_Mutation_p.R111G|NOD2_uc010cbk.1_Missense_Mutation_p.R111G|NOD2_uc002egl.1_5'UTR NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 138 CARD 2. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) GCAGAGTCACCGGCCAGCCAT 0.632 GPR56 9289 broad.mit.edu 37 16 57688009 57688009 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr16:57688009C>T uc002emb.2 + 6 1024 c.732C>T c.(730-732)GCC>GCT p.A244A GPR56_uc002elz.1_Silent_p.A74A|GPR56_uc002ema.1_Silent_p.A69A|GPR56_uc002emc.2_Silent_p.A244A|GPR56_uc002emf.2_Silent_p.A244A|GPR56_uc010vhs.1_Silent_p.A244A|GPR56_uc002emd.2_Silent_p.A244A|GPR56_uc002eme.2_Silent_p.A244A|GPR56_uc010vht.1_Silent_p.A249A|GPR56_uc002emg.3_Silent_p.A244A|GPR56_uc010vhu.1_Silent_p.A69A NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 244 Extracellular (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 AGCCCACAGCCGGCCTCCAGG 0.662 NF1 4763 broad.mit.edu 37 17 29652976 29652979 + Frame_Shift_Del DEL TCTC - - TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr17:29652976_29652979delTCTC uc002hgg.2 + 37 5307_5310 c.4974_4977delTCTC c.(4972-4977)TTTCTCfs p.F1658fs NF1_uc002hgh.2_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.2_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1658_1659 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.S1660fs*37(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AAACAGACTTTCTCTCTAAGTGGT 0.422 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) KRT35 3886 broad.mit.edu 37 17 39637191 39637191 + Silent SNP T A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr17:39637191T>A uc002hws.2 - 1 202 c.159A>T c.(157-159)TCA>TCT p.S53S NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 53 Head. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) CCAGACCCACTGAGCAGGCAG 0.632 PTPRM 5797 broad.mit.edu 37 18 8244151 8244151 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr18:8244151G>A uc002knn.3 + 15 2899 c.2396G>A c.(2395-2397)GGC>GAC p.G799D PTPRM_uc010dkv.2_Missense_Mutation_p.G799D|PTPRM_uc010wzl.1_Missense_Mutation_p.G586D NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 799 Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) GCTGAGCAGGGCACAAACTGC 0.483 PPP4R1 9989 broad.mit.edu 37 18 9570482 9570482 + Nonsense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr18:9570482G>A uc002koe.1 - 11 1364 c.1246C>T c.(1246-1248)CAG>TAG p.Q416* PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q262*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q399*|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 416 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 GCTGCTTCCTGGTGAGATTCT 0.443 NPC1 4864 broad.mit.edu 37 18 21120489 21120489 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr18:21120489C>T uc002kum.3 - 17 2801 c.2527G>A c.(2527-2529)GTG>ATG p.V843M NPC1_uc010xaz.1_Missense_Mutation_p.V576M|NPC1_uc010xba.1_Missense_Mutation_p.V688M NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 843 Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAACACCCACAAATATTGCT 0.363 KIAA1012 22878 broad.mit.edu 37 18 29487454 29487454 + Missense_Mutation SNP T G G TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr18:29487454T>G uc002kxc.3 - 9 1722 c.1358A>C c.(1357-1359)GAT>GCT p.D453A KIAA1012_uc002kxb.3_Missense_Mutation_p.D399A|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.D453A NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 453 ER to Golgi vesicle-mediated transport cis-Golgi network 0 CATTGCTTGATCATTAAGAAA 0.338 CREB3L3 84699 broad.mit.edu 37 19 4164609 4164609 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr19:4164609C>T uc002lzl.2 + 5 802 c.686C>T c.(685-687)ACC>ATC p.T229I CREB3L3_uc002lzm.2_Missense_Mutation_p.T219I|CREB3L3_uc010xib.1_Missense_Mutation_p.T218I|CREB3L3_uc010xic.1_Missense_Mutation_p.T220I NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 229 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGGCATCACCCTGCCCACT 0.617 DNAJB1 3337 broad.mit.edu 37 19 14627500 14627500 + Silent SNP T C C rs143985567 byFrequency TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr19:14627500T>C uc002myz.1 - 2 610 c.570A>G c.(568-570)CTA>CTG p.L190L DNAJB1_uc010xnr.1_Silent_p.L90L NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 190 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) CGTCGGGGTTTAGCCGCTTGT 0.483 LILRB5 10990 broad.mit.edu 37 19 54760357 54760357 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr19:54760357G>A uc002qex.2 - 3 461 c.350C>T c.(349-351)GCG>GTG p.A117V LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A117V|LILRB5_uc002qey.2_Missense_Mutation_p.A117V|LILRB5_uc002qez.2_Missense_Mutation_p.A117V|LILRB5_uc002qfa.1_Missense_Mutation_p.A107V|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 117 Extracellular (Potential).|Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTCACCTGTCGCCACCAGCTC 0.637 DPP10 57628 broad.mit.edu 37 2 116593818 116593818 + Missense_Mutation SNP A T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr2:116593818A>T uc002tla.1 + 22 2493 c.2036A>T c.(2035-2037)GAC>GTC p.D679V DPP10_uc002tlb.1_Missense_Mutation_p.D629V|DPP10_uc002tlc.1_Missense_Mutation_p.D675V|DPP10_uc002tle.2_Missense_Mutation_p.D683V|DPP10_uc002tlf.1_Missense_Mutation_p.D672V NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 679 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CCTATCACAGACTTGAAATTG 0.368 WDR33 55339 broad.mit.edu 37 2 128484320 128484320 + Nonsense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr2:128484320C>T uc002tpg.1 - 8 939 c.756G>A c.(754-756)TGG>TGA p.W252* NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 252 WD 4. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TGGTTGGATGCCAGTCTACAC 0.408 HOXD10 3236 broad.mit.edu 37 2 176981726 176981726 + Silent SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr2:176981726G>A uc002ukj.2 + 1 235 c.165G>A c.(163-165)CCG>CCA p.P55P NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 55 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) GACTGCTCCCGTCTCTGGCCA 0.488 PLEKHM3 389072 broad.mit.edu 37 2 208841462 208841462 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr2:208841462G>A uc002vcl.2 - 3 1949 c.1459C>T c.(1459-1461)CGC>TGC p.R487C PLEKHM3_uc002vcm.2_Missense_Mutation_p.R487C NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 487 intracellular signal transduction metal ion binding ovary(1) 1 ACAGATTGGCGTTTGTTCTTC 0.478 CCDC108 255101 broad.mit.edu 37 2 219874081 219874081 + Missense_Mutation SNP G C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr2:219874081G>C uc002vjl.1 - 28 4638 c.4554C>G c.(4552-4554)GAC>GAG p.D1518E NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1518 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCATACCAGGTCTGCACTGT 0.587 RBM44 375316 broad.mit.edu 37 2 238738022 238738022 + Silent SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr2:238738022G>A uc002vxi.3 + 13 2898 c.2766G>A c.(2764-2766)TCG>TCA p.S922S NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 921 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GAATTAGTTCGAATAATTTAG 0.388 NOP56 10528 broad.mit.edu 37 20 2633552 2633552 + Missense_Mutation SNP A T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr20:2633552A>T uc002wgh.2 + 2 121 c.68A>T c.(67-69)GAG>GTG p.E23V NOP56_uc010zpy.1_RNA|NOP56_uc002wgi.2_5'Flank|SNORD110_uc002wgj.2_5'Flank|SNORA51_uc002wgk.1_5'Flank|NOP56_uc002wgm.1_5'Flank NM_006392 NP_006383 O00567 NOP56_HUMAN nucleolar protein 5A 23 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding ovary(1)|pancreas(1) 2 AAGGAAGTGGAGGAGATCAGT 0.677 LBP 3929 broad.mit.edu 37 20 36992652 36992652 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr20:36992652G>A uc002xic.1 + 7 711 c.676G>A c.(676-678)GCC>ACC p.A226T NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 226 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) TGACAGTTTCGCCGACATTGA 0.562 WFDC9 259240 broad.mit.edu 37 20 44237357 44237357 + Missense_Mutation SNP G A A rs139643257 byFrequency TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr20:44237357G>A uc002xoy.2 - 4 402 c.184C>T c.(184-186)CGT>TGT p.R62C NM_147198 NP_671731 Q8NEX5 WFDC9_HUMAN protease inhibitor WAP9 precursor 62 extracellular region 0 Myeloproliferative disorder(115;0.0122) TGATTTGGACGTACACAAGTC 0.453 TP53RK 112858 broad.mit.edu 37 20 45315631 45315631 + Nonsense_Mutation SNP C A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr20:45315631C>A uc002xsk.2 - 2 746 c.523G>T c.(523-525)GAA>TAA p.E175* SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_3'UTR NM_033550 NP_291028 Q96S44 PRPK_HUMAN p53-related protein kinase 175 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Myeloproliferative disorder(115;0.0122) TTCAGCTGTTCCAGGGGGGGT 0.498 SFRS15 57466 broad.mit.edu 37 21 33074598 33074598 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr21:33074598C>T uc002ypd.2 - 5 842 c.416G>A c.(415-417)AGT>AAT p.S139N SFRS15_uc002ype.2_Missense_Mutation_p.S139N|SFRS15_uc010glu.2_Missense_Mutation_p.S124N|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.S139N NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 139 CID. nucleus nucleotide binding|RNA binding 0 GGCTGCATTACTGGTTCCCGC 0.388 CAND2 23066 broad.mit.edu 37 3 12858462 12858462 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr3:12858462C>T uc003bxk.2 + 10 2080 c.2031C>T c.(2029-2031)GAC>GAT p.D677D CAND2_uc003bxj.2_Silent_p.D584D NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 677 HEAT 14. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 CAGCCCTGGACGCCCTGGCCC 0.662 ZIC4 84107 broad.mit.edu 37 3 147113783 147113783 + Missense_Mutation SNP C G G TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr3:147113783C>G uc003ewd.1 - 3 817 c.544G>C c.(544-546)GGA>CGA p.G182R ZIC4_uc003ewc.1_Missense_Mutation_p.G112R|ZIC4_uc011bno.1_Missense_Mutation_p.G232R NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 182 C2H2-type 2; atypical. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 AAGGGCTTTCCCTGGCGCGGA 0.597 MECOM 2122 broad.mit.edu 37 3 168834185 168834185 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr3:168834185G>A uc003ffi.3 - 7 1180 c.911C>T c.(910-912)CCT>CTT p.P304L MECOM_uc010hwk.1_Missense_Mutation_p.P327L|MECOM_uc003ffj.3_Missense_Mutation_p.P369L|MECOM_uc011bpi.1_Missense_Mutation_p.P305L|MECOM_uc003ffn.3_Missense_Mutation_p.P304L|MECOM_uc003ffk.2_Missense_Mutation_p.P304L|MECOM_uc003ffl.2_Missense_Mutation_p.P464L|MECOM_uc011bpj.1_Missense_Mutation_p.P492L|MECOM_uc011bpk.1_Missense_Mutation_p.P294L|MECOM_uc010hwn.2_Missense_Mutation_p.P492L NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 304 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AAACAGACCAGGGAAGCTAAA 0.473 NAALADL2 254827 broad.mit.edu 37 3 174951839 174951839 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr3:174951839G>A uc003fit.2 + 3 751 c.664G>A c.(664-666)GAT>AAT p.D222N NAALADL2_uc003fiu.1_Missense_Mutation_p.D215N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D44N NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 222 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TGTGCTGCTTGATCTGCCAGG 0.443 GNRHR 2798 broad.mit.edu 37 4 68606377 68606377 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr4:68606377C>T uc003hdn.2 - 3 2559 c.808G>A c.(808-810)GTT>ATT p.V270I LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Missense_Mutation_p.G227D|uc003hdo.1_5'Flank NM_000406 NP_000397 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor isoform 270 Cytoplasmic (Potential). multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity ovary(1) 1 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) GCAAATGCAACCGTCATTTTT 0.408 PITX2 5308 broad.mit.edu 37 4 111539460 111539460 + Missense_Mutation SNP T C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr4:111539460T>C uc003iad.2 - 5 1357 c.775A>G c.(775-777)ACG>GCG p.T259A PITX2_uc003iac.2_Missense_Mutation_p.T266A|PITX2_uc003iae.2_Missense_Mutation_p.T213A|PITX2_uc010iml.2_Missense_Mutation_p.T130A|PITX2_uc003iaf.2_Missense_Mutation_p.T259A NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 259 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CAGGCAGGCGTCGGCACCGCG 0.592 SLC22A4 6583 broad.mit.edu 37 5 131676327 131676327 + Frame_Shift_Del DEL T - - TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr5:131676327delT uc003kwq.2 + 9 1679 c.1514delT c.(1513-1515)CTTfs p.L505fs uc003kwr.3_Intron NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 505 Helical; Name=12; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) ATCCTCACCCTTTTTTTCCCT 0.418 PCDHGB1 56104 broad.mit.edu 37 5 140730012 140730012 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr5:140730012G>A uc003ljo.1 + 1 185 c.185G>A c.(184-186)CGA>CAA p.R62Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.R62Q NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 62 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCCAACTCGAAAACTGCGG 0.522 OREG0016856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MFAP3 4238 broad.mit.edu 37 5 153432941 153432941 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr5:153432941G>A uc003lvf.2 + 3 1273 c.757G>A c.(757-759)GAG>AAG p.E253K MFAP3_uc010jib.2_Missense_Mutation_p.E253K|MFAP3_uc011ddb.1_Missense_Mutation_p.E107K NM_001135037 NP_001128509 P55082 MFAP3_HUMAN microfibrillar-associated protein 3 isoform 2 253 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Renal(175;0.00488) Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201) AGCCTTTGTTGAGGAGATGTT 0.453 EBF1 1879 broad.mit.edu 37 5 158140123 158140123 + Silent SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr5:158140123G>A uc010jip.2 - 13 1526 c.1224C>T c.(1222-1224)GCC>GCT p.A408A EBF1_uc011ddw.1_Silent_p.A276A|EBF1_uc011ddx.1_Silent_p.A409A|EBF1_uc003lxl.3_Silent_p.A377A NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 408 multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACAGGGCCTCGGCAATGTCGG 0.522 T HMGA2 lipoma BTNL3 10917 broad.mit.edu 37 5 180432547 180432547 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr5:180432547G>A uc003mmr.2 + 8 1204 c.1076G>A c.(1075-1077)CGG>CAG p.R359Q BTNL3_uc010jlp.2_Missense_Mutation_p.R144Q NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 359 B30.2/SPRY.|Cytoplasmic (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GGAGTGTGTCGGGATGACGTA 0.478 ROS1 6098 broad.mit.edu 37 6 117679033 117679033 + Missense_Mutation SNP G T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr6:117679033G>T uc003pxp.1 - 24 3987 c.3788C>A c.(3787-3789)CCC>CAC p.P1263H ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1263 Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CACCTCTCTGGGATATTTCAC 0.318 T GOPC|ROS1 glioblastoma|NSCLC CRHR2 1395 broad.mit.edu 37 7 30693212 30693212 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:30693212C>T uc003tbn.2 - 12 1344 c.1100G>A c.(1099-1101)CGC>CAC p.R367H CRHR2_uc010kvw.1_3'UTR|CRHR2_uc010kvx.1_Missense_Mutation_p.R366H|CRHR2_uc010kvy.1_Missense_Mutation_p.R203H|CRHR2_uc003tbo.2_Missense_Mutation_p.R353H|CRHR2_uc003tbp.2_Missense_Mutation_p.R394H NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 367 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 CACGGCTGAGCGCACCTGTGG 0.642 DDX56 54606 broad.mit.edu 37 7 44611162 44611162 + Silent SNP C A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:44611162C>A uc003tlg.2 - 6 1462 c.819G>T c.(817-819)CGG>CGT p.R273R DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Silent_p.R209R|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Silent_p.R273R|DDX56_uc010kyh.1_RNA NM_019082 NP_061955 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 273 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding upper_aerodigestive_tract(1) 1 ACAGGCGTAGCCGGTAACTCC 0.522 GTF2IRD2 84163 broad.mit.edu 37 7 74212399 74212399 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:74212399C>T uc003ubd.1 - 16 1636 c.1452G>A c.(1450-1452)GAG>GAA p.E484E GTF2IRD2_uc010lbt.1_Silent_p.E31E NM_173537 NP_775808 Q86UP8 GTD2A_HUMAN GTF2I repeat domain containing 2 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 cgtgaagcttctcgtcacgca 0.000 CCL24 6369 broad.mit.edu 37 7 75442664 75442664 + Missense_Mutation SNP G C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:75442664G>C uc011kga.1 - 2 151 c.151C>G c.(151-153)CAG>GAG p.Q51E NM_002991 NP_002982 O00175 CCL24_HUMAN small inducible cytokine A24 precursor 51 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity 0 CTGGACAGCTGGTAGCTGACC 0.562 CDHR3 222256 broad.mit.edu 37 7 105660961 105660961 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:105660961C>T uc003vdl.3 + 13 1904 c.1796C>T c.(1795-1797)CCC>CTC p.P599L CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.P586L|CDHR3_uc011klt.1_Missense_Mutation_p.P511L|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 599 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GATTCCAGCCCCAGATCTTTC 0.488 SND1 27044 broad.mit.edu 37 7 127334947 127334948 + Frame_Shift_Ins INS - A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:127334947_127334948insA uc003vmi.2 + 3 520_521 c.294_295insA c.(292-297)ACGATAfs p.T98fs NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 98_99 TNase-like 1. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TCTGTTTCACGATAGAAAACAA 0.465 KEL 3792 broad.mit.edu 37 7 142643377 142643377 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr7:142643377C>T uc003wcb.2 - 11 1441 c.1231G>A c.(1231-1233)GTG>ATG p.V411M NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 411 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GTCTCCTCCACGCACTTCATC 0.567 SOX7 83595 broad.mit.edu 37 8 10583649 10583649 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr8:10583649G>A uc003wtf.2 - 2 845 c.766C>T c.(766-768)CCC>TCC p.P256S SOX7_uc011kwz.1_Missense_Mutation_p.P308S NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 256 endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) GAGCCCAGGGGGTGGCTACAG 0.692 HGSNAT 138050 broad.mit.edu 37 8 43048945 43048945 + Missense_Mutation SNP G C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr8:43048945G>C uc003xpx.3 + 14 1471 c.1423G>C c.(1423-1425)GGC>CGC p.G475R NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN heparan-alpha-glucosaminide N-acetyltransferase 503 Helical; (Potential). lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity 0 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) GGGCATCCTGGGCACCATCAA 0.428 ENPP2 5168 broad.mit.edu 37 8 120628516 120628516 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr8:120628516C>T uc003yot.1 - 8 852 c.766G>A c.(766-768)GGA>AGA p.G256R ENPP2_uc003yos.1_Missense_Mutation_p.G256R|ENPP2_uc010mdd.1_Missense_Mutation_p.G256R NM_001040092 NP_001035181 Q13822 ENPP2_HUMAN autotaxin isoform 2 preproprotein 256 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1) 7 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) GGTTGACCTCCCCACCATCTA 0.378 HAS2 3037 broad.mit.edu 37 8 122626452 122626452 + Missense_Mutation SNP T C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr8:122626452T>C uc003yph.2 - 4 2094 c.1556A>G c.(1555-1557)TAT>TGT p.Y519C NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 519 Helical; Name=7; (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) ATAGCATGCATAGAGCAACGT 0.418 FAM49B 51571 broad.mit.edu 37 8 130866513 130866513 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr8:130866513G>A uc003yss.2 - 10 1064 c.515C>T c.(514-516)CCG>CTG p.P172L FAM49B_uc003yst.2_Missense_Mutation_p.P172L|FAM49B_uc003ysu.2_Missense_Mutation_p.P172L|FAM49B_uc003ysv.2_Missense_Mutation_p.P26L|FAM49B_uc003ysw.2_Missense_Mutation_p.P172L|FAM49B_uc003ysx.2_Missense_Mutation_p.P172L|FAM49B_uc003ysy.1_Missense_Mutation_p.P172L NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 172 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TTAACTTACCGGTACATTGTT 0.348 GSN 2934 broad.mit.edu 37 9 124062285 124062285 + Splice_Site SNP T G G TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr9:124062285T>G uc004blf.1 + 1 205 c.144_splice c.e1+2 p.R48_splice GSN_uc004bld.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank NM_000177 NP_000168 P06396 GELS_HUMAN gelsolin isoform a precursor actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding breast(2)|ovary(1) 3 gaggcgcgggtgagtgcccgg 0.348 ABL1 25 broad.mit.edu 37 9 133760582 133760582 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr9:133760582G>A uc004bzw.2 + 11 2908 c.2905G>A c.(2905-2907)GCC>ACC p.A969T ABL1_uc004bzv.2_Missense_Mutation_p.A988T NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 969 F-actin-binding.|Pro-rich. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCACAGTCCGCCAAGCCGTC 0.667 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL RXRA 6256 broad.mit.edu 37 9 137300840 137300840 + Missense_Mutation SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chr9:137300840C>T uc004cfb.2 + 4 647 c.485C>T c.(484-486)ACG>ATG p.T162M RXRA_uc004cfc.1_Missense_Mutation_p.T65M NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 162 Nuclear receptor. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) TTCAAGCGGACGGTGCGCAAG 0.647 VCX3B 425054 broad.mit.edu 37 X 8433593 8433593 + Missense_Mutation SNP G C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chrX:8433593G>C uc010ndo.2 + 2 409 c.102G>C c.(100-102)AAG>AAC p.K34N VCX3B_uc011mht.1_Missense_Mutation_p.K34N|VCX3B_uc004csd.1_Missense_Mutation_p.K34N NM_001001888 NP_001001888 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 34 nucleolus 0 CGAAGAAGAAGGTGAGTGACC 0.632 USP9X 8239 broad.mit.edu 37 X 41075424 41075424 + Silent SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chrX:41075424G>A uc004dfb.2 + 35 6237 c.5604G>A c.(5602-5604)GTG>GTA p.V1868V USP9X_uc004dfc.2_Silent_p.V1868V NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1868 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TTGTGGGTGTGCTCGTACACA 0.448 TEX11 56159 broad.mit.edu 37 X 69902635 69902635 + Missense_Mutation SNP G A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chrX:69902635G>A uc004dyl.2 - 15 1252 c.1090C>T c.(1090-1092)CGT>TGT p.R364C TEX11_uc004dyk.2_Missense_Mutation_p.R39C|TEX11_uc004dym.2_Missense_Mutation_p.R349C NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 364 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) GACTTAAAACGTTCATGAATA 0.358 FHL1 2273 broad.mit.edu 37 X 135291466 135291466 + Silent SNP C T T TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chrX:135291466C>T uc004ezo.2 + 6 853 c.753C>T c.(751-753)CAC>CAT p.H251H FHL1_uc010nrz.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc011mvz.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron NM_001159702 NP_001153174 Q13642 FHL1_HUMAN four and a half LIM domains 1 isoform 1 251 cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) CAGTGTGCCACGGGAAACGCT 0.552 OREG0019943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SLITRK2 84631 broad.mit.edu 37 X 144905002 144905002 + Silent SNP T C C TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chrX:144905002T>C uc004fcd.2 + 5 2049 c.1059T>C c.(1057-1059)AAT>AAC p.N353N SLITRK2_uc010nsp.2_Silent_p.N353N|SLITRK2_uc010nso.2_Silent_p.N353N|SLITRK2_uc011mwq.1_Silent_p.N353N|SLITRK2_uc011mwr.1_Silent_p.N353N|SLITRK2_uc011mws.1_Silent_p.N353N|SLITRK2_uc004fcg.2_Silent_p.N353N|SLITRK2_uc011mwt.1_Silent_p.N353N NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 353 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GCTCAGACAATGGTCTGAATG 0.493 PLXNA3 55558 broad.mit.edu 37 X 153689599 153689599 + Missense_Mutation SNP C A A TCGA-06-5412-01A-01D-1696-08 TCGA-06-5412-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx b6be0866-b8ae-4767-8cdc-e1dd4f78f440 4cb53c96-2d07-4a8e-9749-89a4d29acc17 g.chrX:153689599C>A uc004flm.2 + 3 928 c.755C>A c.(754-756)ACA>AAA p.T252K NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 252 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGTTGGACACAGCGGGCGAG 0.567