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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CSMD2 114784 broad.mit.edu 37 1 33985468 33985468 + Silent SNP C C A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:33985468C>A uc001bxm.1 - 68 10857 c.10680G>T c.(10678-10680)ctG>ctT p.L3560L CSMD2_uc001bxn.1_Silent_p.L3416L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 3416 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGAAAGGCACCAGGATCGCGG 0.597000 26 38 0 0 1 0 0 HBZ 3050 broad.mit.edu 37 16 202931 202931 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:202931G>A uc002cft.1 + 0 78 c.23G>A c.(22-24)aGg>aAg p.R8K NM_005332 NP_005323 P02008 HBAZ_HUMAN Homo sapiens hemoglobin, zeta (HBZ), mRNA. 8 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) AAGACTGAGAGGACCATCATT 0.632000 OREG0003684 type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 105 0 0 1 0 0 STAT6 6778 broad.mit.edu 37 12 57490363 57490363 + Missense_Mutation SNP T T A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr12:57490363T>A uc009zpg.3 - 21 2685 c.2683A>T c.(2683-2685)Agt>Tgt p.S895C STAT6_uc009zpe.3_Missense_Mutation_p.S846C|STAT6_uc001sna.3_Missense_Mutation_p.S846C|STAT6_uc009zpf.3_Missense_Mutation_p.S846C|STAT6_uc010srb.2_Missense_Mutation_p.S736C|STAT6_uc010src.2_Missense_Mutation_p.S736C|STAT6_uc010srd.2_Missense_Mutation_p.S736C NM_001178081 NP_001171552 P42226 STAT6_HUMAN Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA. 846 regulation of transcription from RNA polymerase II promoter cytosol|nucleus DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GATCACCAACTGGGGTTGGCC 0.607000 5 292 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57078936 57078936 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:57078936G>A uc003xsq.4 - 2 1820 c.1369C>T c.(1369-1371)Ccc>Tcc p.P457S PLAG1_uc003xsr.4_Missense_Mutation_p.P457S|PLAG1_uc010lyi.3_Missense_Mutation_p.P457S|PLAG1_uc010lyj.3_Missense_Mutation_p.P375S|PLAG1_uc022aur.1_Missense_Mutation_p.P375S NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 457 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GTTTGTGGGGGGAGCTGGGAA 0.478000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 4 189 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27024968 27024968 + Silent SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:27024968C>T uc010crt.3 + 32 4560 c.4368C>T c.(4366-4368)acC>acT p.T1456T SUPT6H_uc002hby.3_Silent_p.T1456T NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1456 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AGAAGCCCACCTTCATCCCTT 0.522000 27 60 0 0 1 0 0 IGFBP7 3490 broad.mit.edu 37 4 57976131 57976131 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr4:57976131G>A uc003hcn.3 - 0 421 c.387C>T c.(385-387)agC>agT p.S129S IGFBP7_uc011cag.2_Silent_p.S129S|LOC255130_uc003hco.3_Non-coding_Transcript NM_001553 NP_001544 Q16270 IBP7_HUMAN Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA. 129 Kazal-like. cell adhesion|negative regulation of cell proliferation|regulation of cell growth extracellular space insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|lung(3) 5 Glioma(25;0.08)|all_neural(26;0.181) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTGGCAGCCGCTCGGGTAGG 0.721000 2 2 0 0 1 0 0 ENC1 8507 broad.mit.edu 37 5 73931990 73931990 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr5:73931990G>A uc003kdc.4 - 1 1452 c.321C>T c.(319-321)tcC>tcT p.S107S ENC1_uc011css.2_Silent_p.S34S|ENC1_uc021yao.1_Silent_p.S107S NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 107 BTB. nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) TGACCCGGGAGGAGTACGCAT 0.512000 3 133 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940551 144940551 + Missense_Mutation SNP C C A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:144940551C>A uc003zaa.1 - 0 6884 c.6871G>T c.(6871-6873)Gtg>Ttg p.V2291L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2291 cytoplasm|cytoskeleton protein binding|structural molecule activity p.V2291M(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGCCCACCACGCCCGCGGCC 0.721000 11 170 0 0 1 0 0 GFPT1 2673 broad.mit.edu 37 2 69597225 69597225 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr2:69597225C>T uc002sfi.2 - 2 314 c.131G>A c.(130-132)gGa>gAa p.G44E GFPT1_uc002sfh.3_Missense_Mutation_p.G44E NM_001244710 NP_001231639 Q06210 GFPT1_HUMAN Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA. 44 Glutamine amidotransferase type-2. UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding endometrium(1)|large_intestine(3)|lung(5)|skin(3) 12 ATCATTGCCTCCATCAAATCC 0.338000 45 74 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127654570 127654570 + Splice_Site SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr5:127654570C>G uc003kuu.3 - 35 5033 c.4594_splice c.e35+1 p.D1532_splice NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 1532 EGF-like 26; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) ACTGACCATACCTGTACAGTT 0.383000 4 140 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36903501 36903501 + Missense_Mutation SNP T T C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr13:36903501T>C uc001uvn.3 - 4 1432 c.1162A>G c.(1162-1164)Agg>Ggg p.R388G SPG20_uc010ten.2_Intron|SPG20_uc001uvm.3_Missense_Mutation_p.R388G|SPG20_uc001uvo.3_Missense_Mutation_p.R388G|SPG20_uc001uvq.3_Missense_Mutation_p.R388G|SPG20_uc001uvp.2_Missense_Mutation_p.R388G NM_001142296 NP_055902 Q8N0X7 SPG20_HUMAN Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA. 388 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTATTTACCCTTTTTCCACGT 0.373000 3 242 0 0 1 0 0 MBIP 51562 broad.mit.edu 37 14 36789689 36789689 + Missense_Mutation SNP A A C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:36789689A>C uc001wtm.2 - 0 194 c.106T>G c.(106-108)Tcc>Gcc p.S36A MBIP_uc001wto.2_Missense_Mutation_p.S36A|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.S36A NM_016586 NP_057670 Q9NS73 MBIP1_HUMAN Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA. 36 histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus identical protein binding|protein kinase inhibitor activity breast(2)|large_intestine(1)|lung(5) 8 all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164) Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781) GBM - Glioblastoma multiforme(112;0.0191) GTGTGTAGGGAGCGAAAGATT 0.577000 75 93 0 0 1 0 0 TWIST1 7291 broad.mit.edu 37 7 19156404 19156404 + Nonsense_Mutation SNP C C A rs104894058 TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:19156404C>A uc003sum.3 - 0 892 c.541G>T c.(541-543)Gag>Tag p.E181* TWIST1_uc022aah.1_Nonsense_Mutation_p.E181* NM_000474 NP_000465 Q15672 TWST1_HUMAN Homo sapiens twist homolog 1 (Drosophila) (TWIST1), mRNA. 181 Sufficient for transactivation activity (By similarity). aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus E-box binding|bHLH transcription factor binding|sequence-specific DNA binding RNA polymerase II transcription factor activity p.E181*(2) lung(2)|upper_aerodigestive_tract(1) 3 CTGAGCCGCTCGTGAGCCACA 0.657000 16 26 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457437 124457437 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr10:124457437G>A uc001lgn.3 - 2 852 c.820C>T c.(820-822)Cgg>Tgg p.R274W NM_001010912 NP_001010912 Q5SQS8 CJ120_HUMAN Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA. 274 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GCGATGGACCGTTCCGGTTTC 0.378000 4 211 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76178724 76178724 + Missense_Mutation SNP G G T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:76178724G>T uc002juw.2 - 3 459 c.249C>A c.(247-249)gaC>gaA p.D83E NM_003258 NP_003249 P04183 KITH_HUMAN Homo sapiens thymidine kinase 1, soluble (TK1), mRNA. 83 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) CCTGGGCCACGTCTCGGAGCA 0.632000 11 10 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724401 38724401 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:38724401C>T uc001wum.1 - 0 1174 c.827G>A c.(826-828)gGc>gAc p.G276D NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 276 EGF-like. integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CAGCTCGAAGCCCGTAGCACA 0.667000 4 173 0 0 1 0 0 DOK2 9046 broad.mit.edu 37 8 21767190 21767190 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:21767190G>A uc003wzx.1 - 4 964 c.871C>T c.(871-873)Cgg>Tgg p.R291W DOK2_uc003wzy.1_Missense_Mutation_p.R291W|DOK2_uc003wzz.1_Missense_Mutation_p.R137W|DOK2_uc010lth.1_Missense_Mutation_p.R137W NM_003974 NP_003965 O60496 DOK2_HUMAN Homo sapiens docking protein 2, 56kDa (DOK2), mRNA. 291 Pro-rich. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CCCCGAGGCCGTGGAGCAGGC 0.677000 4 165 0 0 1 0 0 C10orf47 254427 broad.mit.edu 37 10 11908732 11908732 + Missense_Mutation SNP C C T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr10:11908732C>T uc001ikx.3 + 2 495 c.341C>T c.(340-342)gCa>gTa p.A114V LOC219731_uc001iky.2_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA. 114 central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 GTGCAGCCAGCACCTGGCGCC 0.642000 3 83 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150389724 150389724 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:150389724G>A uc003who.3 + 2 438 c.350G>A c.(349-351)cGc>cAc p.R117H NM_015660 NP_056475 Q9UG22 GIMA2_HUMAN Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA. 117 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGCTGGGCCGCTATACCTCA 0.552000 3 56 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228467094 228467094 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:228467094G>A uc009xez.1 + 26 7389 c.7345G>A c.(7345-7347)Gtg>Atg p.V2449M OBSCN_uc001hsn.3_Missense_Mutation_p.V2449M|OBSCN_uc001hsp.1_Missense_Mutation_p.V148M|OBSCN_uc001hsq.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 2449 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACCGGGCCCGTGCACTTCAC 0.697000 3 102 0 0 1 0 0 CNOT7 29883 broad.mit.edu 37 8 17092255 17092255 + Missense_Mutation SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:17092255C>G uc003wxf.1 - 4 756 c.588G>C c.(586-588)aaG>aaC p.K196N CNOT7_uc003wxg.1_Missense_Mutation_p.K196N|CNOT7_uc003wxh.1_Missense_Mutation_p.K196N NM_013354 NP_037486 Q9UIV1 CNOT7_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA. 196 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) TCATGAGGTACTTCACATCAT 0.413000 39 100 0 0 1 0 0 ADRA1A 148 broad.mit.edu 37 8 26722176 26722176 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr8:26722176G>A uc003xfc.1 - 0 747 c.311C>T c.(310-312)gCa>gTa p.A104V ADRA1A_uc010lul.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.A104V|ADRA1A_uc010lum.1_Missense_Mutation_p.A104V|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.A104V|ADRA1A_uc003xfh.1_Missense_Mutation_p.A104V|ADRA1A_uc022atd.1_Missense_Mutation_p.A104V NM_033303 NP_150646 P35348 ADA1A_HUMAN Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA. 104 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CACATCCACTGCCGCCCAGAT 0.632000 46 86 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261042 30261042 + Missense_Mutation SNP G G A rs148704670 TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chrX:30261042G>A uc004dcb.3 + 0 986 c.790G>A c.(790-792)Gat>Aat p.D264N MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA. 264 MAGE. p.S263R(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GCCCAACAGTGATCCCCCACG 0.502000 3 70 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9512205 9512205 + Missense_Mutation SNP C C G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:9512205C>G uc003brt.3 + 18 3222 c.2787C>G c.(2785-2787)agC>agG p.S929R SETD5_uc003bru.3_Missense_Mutation_p.S831R|SETD5_uc003brv.3_Missense_Mutation_p.S818R|SETD5_uc010hck.3_Missense_Mutation_p.S411R|SETD5_uc003brx.3_Missense_Mutation_p.S598R NM_001080517 NP_001073986 Q9C0A6 SETD5_HUMAN Homo sapiens SET domain containing 5 (SETD5), mRNA. 929 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) ACACTAACAGCTGTGCTGATA 0.493000 8 293 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153738 45153738 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:45153738G>A uc003com.3 - 2 627 c.492C>T c.(490-492)agC>agT p.S164S CDCP1_uc003con.3_Silent_p.S164S NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 164 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CGATTCGGCCGCTGATGGAGT 0.562000 5 249 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93629413 93629413 + Splice_Site SNP A A G TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr9:93629413A>G uc004aqz.3 + 7 1052 c.847_splice c.e7-1 p.T283_splice SYK_uc004ara.3_Intron|SYK_uc004arb.3_Intron|SYK_uc004arc.3_Splice_Site_p.T283_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site NM_003177 NP_003168 P43405 KSYK_HUMAN Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA. 283 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly T cell receptor complex|cytosol ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 TGGTTTCTAGACTTGGTCAGC 0.438000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 6 123 0 0 1 0 0 AMD1 262 broad.mit.edu 37 6 111210065 111210065 + Missense_Mutation SNP G G T TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr6:111210065G>T uc003puk.1 + 2 525 c.203G>T c.(202-204)aGt>aTt p.S68I AMD1_uc011eay.1_5'UTR|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.S39I|AMD1_uc011eba.1_Intron NM_001634 NP_001028231 P17707 DCAM_HUMAN Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA. 68 Cleavage (non-hydrolytic); by autolysis. spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) TGCAGTGAGAGTAGCATGTTT 0.383000 3 128 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411479 105411479 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr14:105411479G>A uc010axc.1 - 6 10429 c.10309C>T c.(10309-10311)Ccc>Tcc p.P3437S AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3337S NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 3437 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCACGCTGGGCAGAGACACC 0.622000 6 355 0 0 1 0 0 GMPS 8833 broad.mit.edu 37 3 155628609 155628609 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr3:155628609G>A uc003faq.3 + 5 990 c.655G>A c.(655-657)Gtg>Atg p.V219M GMPS_uc011bom.2_Missense_Mutation_p.V120M NM_003875 NP_003866 P49915 GUAA_HUMAN Homo sapiens guanine monphosphate synthetase (GMPS), mRNA. 219 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) AACCTTCACCGTGCAGAACAG 0.393000 T MLL AML 3 124 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48917682 48917682 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr19:48917682G>C uc002pjc.4 + 4 1341 c.1253G>C c.(1252-1254)cGc>cCc p.R418P NM_000836 NP_000827 O15399 NMDE4_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA. 418 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CTGTGGTCCCGCTATGGTCGC 0.627000 6 19 0 0 1 0 0 PITPNM1 9600 broad.mit.edu 37 11 67267884 67267884 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr11:67267884G>C uc001olx.3 - 4 838 c.649C>G c.(649-651)Cgg>Ggg p.R217G PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.R217G|PITPNM1_uc001olz.3_Missense_Mutation_p.R217G NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 217 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity p.R217Q(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 AGCATCACCCGACGCAGACCT 0.657000 65 112 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94113644 94113644 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr11:94113644G>A uc001pet.2 - 3 1115 c.943C>T c.(943-945)Ctg>Ttg p.L315L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA. 315 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTGCTGGACAGGAGGAGGACG 0.537000 3 169 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1264494 1264494 + Missense_Mutation SNP T T A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr17:1264494T>A uc002fsj.3 - 3 622 c.470A>T c.(469-471)gAt>gTt p.D157V YWHAE_uc002fsk.3_Missense_Mutation_p.D135V|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron NM_006761 NP_006752 P62258 1433E_HUMAN Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA. 157 G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CATTGCAATATCACTAGCAGC 0.463000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 10 256 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 72 0 0 1 0 0 METRN 79006 broad.mit.edu 37 16 767142 767142 + Missense_Mutation SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr16:767142G>A uc002cjd.3 + 3 754 c.637G>A c.(637-639)Gcc>Acc p.A213T AL360260_uc010bra.2_5'Flank NM_024042 NP_076947 Q9UJH8 METRN_HUMAN Homo sapiens meteorin, glial cell differentiation regulator (METRN), mRNA. 213 skin(1) 1 Hepatocellular(780;0.00335) TGTGGTGGCCGCCCGTGTCCT 0.662000 3 33 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128466403 128466403 + Missense_Mutation SNP G G C TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr2:128466403G>C uc002tpg.2 - 20 3828 c.3629C>G c.(3628-3630)tCc>tGc p.S1210C NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 1210 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GCTGGCTGGGGAATGACCGTC 0.557000 28 56 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175046794 175046794 + Silent SNP G G A TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr1:175046794G>A uc001gkl.1 + 1 353 c.240G>A c.(238-240)gaG>gaA p.E80E TNN_uc010pmx.1_Silent_p.E80E NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 80 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGGCCAGGGAGGAACAGAACA 0.607000 3 72 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111474657 111474657 + Frame_Shift_Del DEL T T - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr7:111474657delT uc003vfy.3 - 26 3199 c.2930delA c.(2929-2931)aagfs p.K977fs DOCK4_uc003vfw.3_Frame_Shift_Del_p.K382fs|DOCK4_uc003vfx.3_Frame_Shift_Del_p.K941fs NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 941 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TAGTTCTTCCTTTGTATTAAA 0.313 2 4 --- --- --- --- MX2 4600 broad.mit.edu 37 21 42748992 42748992 + Frame_Shift_Del DEL G G - TCGA-DJ-A3UN-01A-11D-A22D-08 TCGA-DJ-A3UN-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 846cfbd3-90a5-4733-807b-548974509cf4 d1d13d47-38ae-4c31-9a3c-7d4f05d3457e g.chr21:42748992delG uc002yzf.1 + 1 263 c.159delG c.(157-159)gagfs p.E53fs MX2_uc011aer.1_Non-coding_Transcript NM_002463 NP_002454 P20592 MX2_HUMAN Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA. 53 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AGGGGGCAGAGAAGGACGCTG 0.512 85 157 --- --- --- ---