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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut BRAT1 221927 broad.mit.edu 37 7 2583426 2583426 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr7:2583426G>A uc003smi.3 - 4 889 c.601C>T c.(601-603)Cac>Tac p.H201Y BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_Missense_Mutation_p.H26Y|BRAT1_uc003smj.2_Missense_Mutation_p.H201Y NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA. 201 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 TCTTCAACGTGATCCATGATC 0.672000 71 20 0 0 0.000586117 0 0 FBXO21 23014 broad.mit.edu 37 12 117593596 117593596 + Splice_Site SNP C G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:117593596C>G uc001twk.3 - 11 1735 c.1696_splice c.e11+1 p.E566_splice FBXO21_uc001twj.3_Splice_Site_p.E559_splice|FBXO21_uc009zwq.3_Splice_Site_p.E499_splice NM_033624 NP_296373 O94952 FBX21_HUMAN Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA. 566 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CGCCGCTTACCTTGGGCTGCG 0.642000 OREG0022166 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 3 0 0 6.4e-05 0 0 GRIA2 2891 broad.mit.edu 37 4 158224758 158224758 + Missense_Mutation SNP A C C TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr4:158224758A>C uc003ipm.4 + 2 743 c.284A>C c.(283-285)aAg>aCg p.K95T GRIA2_uc011cit.2_Missense_Mutation_p.K48T|GRIA2_uc021xtr.1_Missense_Mutation_p.K95T|GRIA2_uc003ipl.4_Missense_Mutation_p.K95T|GRIA2_uc003ipk.4_Missense_Mutation_p.K48T|GRIA2_uc010iqh.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 95 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TATGACAAGAAGTCTGTAAAT 0.398000 89 45 0 0 0.000125731 0 0 DNAI2 64446 broad.mit.edu 37 17 72278045 72278045 + Missense_Mutation SNP A G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr17:72278045A>G uc002jkf.3 + 1 199 c.89A>G c.(88-90)gAc>gGc p.D30G DNAI2_uc002jkg.3_Missense_Mutation_p.D30G|DNAI2_uc010dfp.3_Non-coding_Transcript NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA. 30 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTGAACATCGACATCATGCCC 0.602000 Kartagener syndrome 67 22 0 0 0.000175454 0 0 PMM1 5372 broad.mit.edu 37 22 41980568 41980568 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr22:41980568G>A uc003bal.2 - 2 307 c.245C>T c.(244-246)aCg>aTg p.T82M NM_002676 NP_002667 Q92871 PMM1_HUMAN Homo sapiens phosphomannomutase 1 (PMM1), mRNA. 82 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 ATACTGCACCGTCCCGTTCTC 0.547000 151 25 0 0 0.000184323 0 0 FCGBP 8857 broad.mit.edu 37 19 40367841 40367841 + Silent SNP T G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr19:40367841T>G uc002omp.4 - 28 13127 c.13119A>C c.(13117-13119)gcA>gcC p.A4373A NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4373 TIL 10. extracellular region protein binding p.A4373A(4) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGTAAGGGGTGCAGGGGACG 0.627000 24 12 0 0 0.000132079 0 0 PGK2 5232 broad.mit.edu 37 6 49753894 49753894 + Missense_Mutation SNP C A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr6:49753894C>A uc003ozu.3 - 0 1160 c.1007G>T c.(1006-1008)tGg>tTg p.W336L NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 336 glycolysis cytosol ATP binding|phosphoglycerate kinase activity p.W336*(1) autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CGGCCCATTCCAAACAATTAG 0.483000 154 43 2.35958e-20 4.16231e-19 0.000437636 1 0 ANKAR 150709 broad.mit.edu 37 2 190541666 190541666 + Missense_Mutation SNP T G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr2:190541666T>G uc002uqw.2 + 1 538 c.450T>G c.(448-450)atT>atG p.I150M ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqv.1_Missense_Mutation_p.I150M NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 150 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) TGATCAATATTGACTACATGC 0.388000 41 28 0 0 0.000147802 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761663 13761663 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:13761663G>A uc001rbt.2 - 8 2063 c.1884C>T c.(1882-1884)tcC>tcT p.S628S NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 628 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCATGATCTTGGAGGTGGTCC 0.522000 39 24 0 0 0.000586117 0 0 LOC441666 441666 broad.mit.edu 37 10 42832499 42832499 + RNA SNP C G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr10:42832499C>G uc010qey.2 - 2 c.1476G>C Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA. TCTCCCCTATCAATTATGTTT 0.363000 3 3 0 0 6.4e-05 0 0 PDE3A 5139 broad.mit.edu 37 12 20806962 20806962 + Missense_Mutation SNP T G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:20806962T>G uc001reh.2 + 14 3047 c.3007T>G c.(3007-3009)Tcc>Gcc p.S1003A PDE3A_uc021qwa.1_Missense_Mutation_p.S681A NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 1003 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCTTCAGGAATCCTTCATCTC 0.488000 30 35 0 0 0.000491102 0 0 KRT73 319101 broad.mit.edu 37 12 53009977 53009977 + Missense_Mutation SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:53009977C>T uc001sas.3 - 1 670 c.635G>A c.(634-636)cGc>cAc p.R212H NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 212 Coil 1B.|Rod. R -> H (in a colorectal cancer sample; somatic mutation). keratin filament structural molecule activity p.R212H(2) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CACCACTTCGCGCACGCTCCT 0.627000 70 28 0 0 0.000117367 0 0 ANKRD35 148741 broad.mit.edu 37 1 145560097 145560097 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:145560097G>A uc001eob.1 + 7 691 c.583G>A c.(583-585)Gag>Aag p.E195K ANKRD35_uc010oyx.1_Missense_Mutation_p.E38K NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 195 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTGGCCTGTGAGAAAGGCAG 0.567000 88 24 0 0 0.000147802 0 0 FMO1 2326 broad.mit.edu 37 1 171250049 171250049 + Missense_Mutation SNP T C C rs150268968 byFrequency TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:171250049T>C uc009wvz.3 + 5 888 c.752T>C c.(751-753)aTt>aCt p.I251T FMO1_uc010pme.2_Missense_Mutation_p.I188T|FMO1_uc001ghl.3_Missense_Mutation_p.I251T|FMO1_uc001ghm.3_Missense_Mutation_p.I251T NM_002021 NP_002012 Q01740 FMO1_HUMAN Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA. 251 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCAACCCCAATTGTGACTTGG 0.458000 93 25 0 0 0.000117367 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 68 19 0 0 0.000229342 0 0 OR6K2 81448 broad.mit.edu 37 1 158669743 158669743 + Missense_Mutation SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:158669743C>T uc001fsu.1 - 0 700 c.700G>A c.(700-702)Ggc>Agc p.G234S NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA. 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GTGCGGCGGCCTCCAGCTGAA 0.468000 77 52 0 0 0.000147903 0 0 OR8A1 390275 broad.mit.edu 37 11 124439994 124439994 + Missense_Mutation SNP C G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr11:124439994C>G uc010san.2 + 0 30 c.30C>G c.(28-30)tgC>tgG p.C10W NM_001005194 NP_001005194 Q8NGG7 OR8A1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA. 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2) 22 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214) TGCATCCCTGCAGGCCTCCCA 0.522000 5 22 0 0 0.000229342 0 0 NOTCH4 4855 broad.mit.edu 37 6 32163258 32163258 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr6:32163258G>A uc003obb.3 - 29 6107 c.5968C>T c.(5968-5970)Ctc>Ttc p.L1990F GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'UTR|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.L650F|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 1990 Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ATTTCTTGGAGGGCTGGGGGA 0.522000 221 169 0 0 0.000147903 0 0 CYTIP 9595 broad.mit.edu 37 2 158300486 158300486 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr2:158300486G>A uc002tzj.1 - 0 119 c.47C>T c.(46-48)gCg>gTg p.A16V CYTIP_uc010zcl.1_Intron NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 16 regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GCAGAAGTCCGCCAAATTGCC 0.507000 63 41 0 0 0.000589545 0 0 RFX4 5992 broad.mit.edu 37 12 107048024 107048024 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:107048024G>A uc001tlt.3 + 3 377 c.237G>A c.(235-237)gaG>gaA p.E79E LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.E70E|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.E79E NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 70 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 AGAACTATGAGATTGCAGAGG 0.488000 47 23 0 0 0.00047179 0 0 ANKRD35 148741 broad.mit.edu 37 1 145558852 145558852 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:145558852G>A uc001eob.1 + 6 579 c.471G>A c.(469-471)ctG>ctA p.L157L ANKRD35_uc010oyx.1_5'UTR NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 157 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTACACCCCTGATGATCGCAT 0.582000 208 69 0 0 0.000147903 0 0 FRG1B 284802 broad.mit.edu 37 20 29628299 29628300 + Missense_Mutation DNP AG GA GA TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr20:29628299_29628300AG>GA uc010ztl.1 + 2 243_244 c.211_212AG>GA c.(211-213)agt>GAt p.S71D FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.S23D Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGCA 0.361000 61 4 0 0 6.4e-05 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146852 52146853 + Missense_Mutation DNP CC AT AT TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr19:52146852_52146853CC>AT uc002pxf.4 - 5 1205_1206 c.1085_1086GG>AT c.(1084-1086)agg>aAT p.R362N NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA. 362 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TGAGAGCCCCCCTGATCAGGGT 0.579000 34 33 0 0 6.4e-05 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144712 25144712 + RNA SNP A C C rs71218558 by1000genomes TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr13:25144712A>C uc001upm.3 + 3 c.253A>C Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA. TGTGTTTAACACAGCCCCTGC 0.393000 15 3 0 0 0.00024832 0 0 SYNDIG1L 646658 broad.mit.edu 37 14 74874582 74874582 + Silent SNP C A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr14:74874582C>A uc001xpx.2 - 2 776 c.528G>T c.(526-528)ctG>ctT p.L176L NM_001105579 NP_001099049 A6NDD5 SYN1L_HUMAN Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA. 176 response to biotic stimulus Golgi apparatus|integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1) 14 CAGCAATGCCCAGTGGCCAGA 0.592000 35 9 3.86212e-05 0.000642715 3.86212e-05 1 0 NAT9 26151 broad.mit.edu 37 17 72768379 72768379 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr17:72768379G>A uc002jlq.3 - 4 446 c.372C>T c.(370-372)gcC>gcT p.A124A NAT9_uc002jlr.3_Silent_p.A123A NM_015654 NP_056469 Q9BTE0 NAT9_HUMAN Homo sapiens N-acetyltransferase 9 (GCN5-related, putative) (NAT9), mRNA. 124 N-acetyltransferase. protein complex N-acetyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3) 8 TCGCGAGAACGGCCTCAGTGC 0.617000 23 8 0 0 0.000274275 0 0 CCDC66 285331 broad.mit.edu 37 3 56655639 56655639 + Nonsense_Mutation SNP C A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr3:56655639C>A uc003dhz.3 + 17 2927 c.2840C>A c.(2839-2841)tCa>tAa p.S947* CCDC66_uc003dhy.3_Nonsense_Mutation_p.S583*|CCDC66_uc003dhu.3_Nonsense_Mutation_p.S913*|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Nonsense_Mutation_p.S315*|FAM208A_uc003dib.4_3'UTR|FAM208A_uc003dic.4_3'UTR|FAM208A_uc003die.4_3'UTR|FAM208A_uc003did.4_3'UTR NM_001141947 NP_001135419 A2RUB6 CCD66_HUMAN Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA. 947 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) TTTGGTTCTTCATTTTAAATG 0.348000 119 5 0.000602214 0.00983617 0.000602214 1 0 SYNM 23336 broad.mit.edu 37 15 99669741 99669741 + Silent SNP T G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr15:99669741T>G uc002bup.3 + 4 1293 c.1173T>G c.(1171-1173)ggT>ggG p.G391G SYNM_uc002buo.3_Silent_p.G391G|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 392 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CTATTGGAGGTGATGCCAGAA 0.522000 146 110 0 0 0.000147903 0 0 HRNR 388697 broad.mit.edu 37 1 152191290 152191290 + Missense_Mutation SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:152191290C>T uc001ezt.1 - 2 2891 c.2815G>A c.(2815-2817)Ggg>Agg p.G939R NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 939 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGGACTGCCCTGAGCTAGAC 0.577000 461 154 0 0 0.000147903 0 0 RPTOR 57521 broad.mit.edu 37 17 78882720 78882720 + Silent SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr17:78882720C>T uc002jyt.1 + 20 3316 c.2511C>T c.(2509-2511)atC>atT p.I837I RPTOR_uc010wug.1_Silent_p.I679I NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 837 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 TCAACAGCATCGCCTACAAGG 0.582000 56 91 0 0 0.000147903 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497675 1497675 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr8:1497675G>A uc003wpl.3 + 1 913 c.816G>A c.(814-816)tcG>tcA p.S272S DLGAP2_uc003wpm.3_Silent_p.S272S NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 351 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) TCAAGTGCTCGGCCTGTGAGG 0.662000 33 32 0 0 0.000279167 0 0 POTEE 445582 broad.mit.edu 37 2 132021477 132021477 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr2:132021477G>A uc002tsn.2 + 14 2501 c.2449G>A c.(2449-2451)Gag>Aag p.E817K PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E417K|POTEE_uc002tsl.2_Missense_Mutation_p.E399K|POTEE_uc010fmy.1_Missense_Mutation_p.E281K NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA. 817 Actin-like. ATP binding GGCCAACCGCGAGAAGATGAC 0.612000 122 40 0 0 0.000147903 0 0 CD163L1 283316 broad.mit.edu 37 12 7528424 7528424 + Missense_Mutation SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:7528424C>T uc010sge.2 - 9 2614 c.2588G>A c.(2587-2589)gGg>gAg p.G863E CD163L1_uc001qsy.3_Missense_Mutation_p.G853E NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 853 SRCR 8. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TAGACCATTCCCTTTTCCAAA 0.448000 25 40 0 0 0.000191422 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144710 25144710 + RNA SNP A G G rs71218558 by1000genomes TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr13:25144710A>G uc001upm.3 + 3 c.251A>G Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA. GATGTGTTTAACACAGCCCCT 0.398000 15 3 0 0 6.4e-05 0 0 MYH2 4620 broad.mit.edu 37 17 10428344 10428344 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr17:10428344G>A uc010coi.3 - 33 4829 c.4701C>T c.(4699-4701)atC>atT p.I1567I AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I1567I|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1567 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACTCAAGCTGGATGCGCAGGA 0.418000 3 76 0 0 0.000147903 0 0 CARKD 55739 broad.mit.edu 37 13 111289537 111289537 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr13:111289537G>A uc001vrc.3 + 8 925 c.834G>A c.(832-834)tcG>tcA p.S278S CARKD_uc010tjj.2_Silent_p.S260S|CARKD_uc001vqz.3_Non-coding_Transcript|CARKD_uc001vra.3_Non-coding_Transcript|CARKD_uc010tjk.2_Silent_p.S168S|CARKD_uc010tjl.2_Silent_p.S147S|CARKD_uc001vrb.3_Silent_p.S278S|CARKD_uc021rmn.1_Silent_p.S57S NM_018210 NP_060680 Q8IW45 CARKD_HUMAN Homo sapiens carbohydrate kinase domain containing (CARKD), transcript variant 1, mRNA. 278 YjeF C-terminal. NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 ACCTCCTGTCGGGCTCCCTGG 0.587000 25 17 0 0 0.000566183 0 0 APPL2 55198 broad.mit.edu 37 12 105589120 105589120 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr12:105589120G>A uc010swu.1 - 13 1396 c.1178C>T c.(1177-1179)gCg>gTg p.A393V APPL2_uc010swt.2_Missense_Mutation_p.A344V|APPL2_uc001tlf.1_Missense_Mutation_p.A387V|APPL2_uc001tlg.1_Missense_Mutation_p.A141V|APPL2_uc009zuq.3_Missense_Mutation_p.A344V NM_001251904 NP_001238833 Q8NEU8 DP13B_HUMAN Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA. 387 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CAACTTGATCGCGACTGCCTA 0.473000 25 12 0 0 6.40141e-05 0 0 PTGER4 5734 broad.mit.edu 37 5 40691977 40691977 + Missense_Mutation SNP C A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr5:40691977C>A uc003jlz.3 + 2 1556 c.964C>A c.(964-966)Ccc>Acc p.P322T NM_000958 NP_000949 P35408 PE2R4_HUMAN Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA. 322 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TTCTGTGAACCCCATCCTAGA 0.483000 48 27 8.53417e-09 1.44753e-07 0.000491102 1 0 ZNF804A 91752 broad.mit.edu 37 2 185798353 185798353 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr2:185798353G>A uc002uph.3 + 2 873 c.279G>A c.(277-279)agG>agA p.R93R NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 93 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGAAACAAAGGGAATTTGCTC 0.353000 39 29 0 0 0.000279167 0 0 DENND1B 163486 broad.mit.edu 37 1 197509108 197509108 + Missense_Mutation SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:197509108G>A uc021pgu.1 - 19 1839 c.1501C>T c.(1501-1503)Cgt>Tgt p.R501C DENND1B_uc010ppf.2_Non-coding_Transcript NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 GCAAGCTTACGCTTTTCTGAG 0.348000 93 10 0 0 0.000442599 0 0 GBF1 8729 broad.mit.edu 37 10 104120107 104120107 + Silent SNP C T T TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr10:104120107C>T uc001kux.2 + 11 1638 c.1344C>T c.(1342-1344)acC>acT p.T448T GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Silent_p.T448T|GBF1_uc001kuz.2_Silent_p.T449T NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 448 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AGTGCCAGACCCTCTTGGGCC 0.537000 59 42 0 0 0.000437636 0 0 DGKD 8527 broad.mit.edu 37 2 234368894 234368894 + Missense_Mutation SNP C G G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr2:234368894C>G uc002vui.1 + 23 2896 c.2884C>G c.(2884-2886)Cgc>Ggc p.R962G DGKD_uc002vuj.1_Missense_Mutation_p.R918G|DGKD_uc010fyi.1_Non-coding_Transcript NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 962 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CGAGCTGCCCCGCCCTCCATC 0.597000 47 25 0 0 0.000586117 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T C C rs11554290 TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 38 79 0 0 0.000147903 0 0 STX6 10228 broad.mit.edu 37 1 180957437 180957437 + Silent SNP G A A TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:180957437G>A uc021pfr.1 - 5 771 c.534C>T c.(532-534)ggC>ggT p.G178G STX6_uc010pnr.2_Silent_p.G77G NM_005819 NP_005810 O43752 STX6_HUMAN Homo sapiens syntaxin 6 (STX6), mRNA. 178 t-SNARE coiled-coil homology. Golgi vesicle transport|intracellular protein transport|vesicle fusion clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane SNAP receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 10 CCCCGATGCTGCCAGAGACCA 0.517000 119 41 0 0 0.000374591 0 0 PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT - - TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr1:214557049_214557051delCCT uc001hkk.2 - 12 2800_2802 c.2147_2149delAGG c.(2146-2151)gaggct>gct p.E716del PTPN14_uc021piy.1_In_Frame_Del_p.E480del|PTPN14_uc010pty.2_In_Frame_Del_p.E617del NM_005401 NP_005392 Q15678 PTN14_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA. 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(2) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 --- 100 --- --- 7 --- LOC441666 441666 broad.mit.edu 37 10 42832502 42832503 + RNA INS - TATCA TATCA TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr10:42832502_42832503insTATCA uc010qey.2 - 2 c.1472_1473insTGATA Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA. CCCCTATCAATTATGTTTAGTA 0.366 --- 4 --- --- 2 --- PKD1P1 339044 broad.mit.edu 37 16 16415262 16415264 + RNA DEL GTG - - TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8c06caf8-b204-4030-9e44-26fda5232e1d 416e6d70-b904-473f-ad36-f94d8ad3cc2b g.chr16:16415262_16415264delGTG uc002der.3 + 0 c.754_756delGTG Homo sapiens polycystic kidney disease 1 (autosomal dominant) pseudogene 1 (PKD1P1), non-coding RNA. GGGAGTCCCAGTGGTGAGTATGG 0.714 --- 4 --- --- 2 ---