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 SCNN1D 6339 broad.mit.edu 37 1 1222331 1222331 + Silent SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:1222331C>T uc001adu.1 + 7 1227 c.603C>T c.(601-603)AGC>AGT p.S201S SCNN1D_uc001adt.1_Silent_p.S365S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adx.2_5'UTR|SCNN1D_uc001adv.2_Silent_p.S201S NM_002978 NP_002969 sodium channel, nonvoltage-gated 1, delta 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) ACTCGGGCAGCCGGGTCAGAG 0.697 SYDE2 84144 broad.mit.edu 37 1 85656020 85656020 + Missense_Mutation SNP C A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:85656020C>A uc009wcm.2 - 2 1210 c.1161G>T c.(1159-1161)TTG>TTT p.L387F SYDE2_uc001dku.3_Missense_Mutation_p.L387F NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 387 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|central_nervous_system(1) 2 all cancers(265;0.0126)|Epithelial(280;0.0336) CACCAAAACTCAAGGCACTTG 0.448 FLG 2312 broad.mit.edu 37 1 152281389 152281389 + Silent SNP C T T rs138652718 byFrequency TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:152281389C>T uc001ezu.1 - 3 6009 c.5973G>A c.(5971-5973)GCG>GCA p.A1991A NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1991 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGGATGACGCAGCCTGTC 0.572 Ichthyosis KLHL20 27252 broad.mit.edu 37 1 173744944 173744944 + Missense_Mutation SNP G T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr1:173744944G>T uc001gjc.2 + 10 1780 c.1601G>T c.(1600-1602)TGG>TTG p.W534L KLHL20_uc010pmr.1_Missense_Mutation_p.W345L|KLHL20_uc009wwf.2_Missense_Mutation_p.W516L NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 534 Kelch 5. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 ACCAACCAGTGGTCTCCAGTG 0.378 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + Missense_Mutation SNP A G G rs2257765 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr10:38654432A>G uc010qex.1 + 5 599 c.524A>G c.(523-525)AAT>AGT p.N175S HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270); 0 TCATCTCGCAATGCAAGGAAA 0.453 PHLDA2 7262 broad.mit.edu 37 11 2950491 2950491 + Missense_Mutation SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:2950491C>T uc001lxa.1 - 1 160 c.104G>A c.(103-105)CGC>CAC p.R35H NM_003311 NP_003302 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain family A member 35 PH. apoptosis cytoplasm|membrane 0 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGGCTCAGGCGGTCGGAGGT 0.667 OR52J3 119679 broad.mit.edu 37 11 5068409 5068409 + Silent SNP G A A rs148600962 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:5068409G>A uc010qyv.1 + 1 654 c.654G>A c.(652-654)TCG>TCA p.S218S NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGCATCTCGTATGTTTACA 0.448 OR5P2 120065 broad.mit.edu 37 11 7818191 7818191 + Missense_Mutation SNP G A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:7818191G>A uc001mfp.1 - 1 299 c.299C>T c.(298-300)GCG>GTG p.A100V NM_153444 NP_703145 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2)|central_nervous_system(1) 5 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAAGAAAGCCGCTGAACCAAG 0.483 OR5W2 390148 broad.mit.edu 37 11 55681318 55681318 + Silent SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:55681318C>T uc010rir.1 - 1 741 c.741G>A c.(739-741)GCG>GCA p.A247A NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAATTGCAACCGCAGATAAGT 0.403 OR5T2 219464 broad.mit.edu 37 11 55999905 55999905 + Missense_Mutation SNP C T T rs146086539 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:55999905C>T uc010rjc.1 - 1 757 c.757G>A c.(757-759)GTT>ATT p.V253I NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 253 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GAGATCAGAACAATCAGGATA 0.448 PDE2A 5138 broad.mit.edu 37 11 72293532 72293532 + Missense_Mutation SNP A G G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:72293532A>G uc010rrc.1 - 21 2050 c.1807T>C c.(1807-1809)TTC>CTC p.F603L PDE2A_uc001oso.2_Missense_Mutation_p.F582L|PDE2A_uc010rra.1_Missense_Mutation_p.F596L|PDE2A_uc001osn.2_Missense_Mutation_p.F347L|PDE2A_uc010rrb.1_Missense_Mutation_p.F594L|PDE2A_uc010rrd.1_Missense_Mutation_p.F488L NM_002599 NP_002590 O00408 PDE2A_HUMAN phosphodiesterase 2A isoform 1 603 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(2)|breast(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) GTATAGGTGAAACTTGCAAAA 0.537 OR8B4 283162 broad.mit.edu 37 11 124294255 124294255 + Silent SNP G A A rs146995996 byFrequency TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:124294255G>A uc010sak.1 - 1 513 c.513C>T c.(511-513)AAC>AAT p.N171N NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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;0.0279) GGTCAATGACGTTGGAATCAC 0.512 SRPR 6734 broad.mit.edu 37 11 126134309 126134309 + Nonsense_Mutation SNP C A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr11:126134309C>A uc001qdh.2 - 12 1702 c.1651G>T c.(1651-1653)GGA>TGA p.G551* SRPR_uc010sbm.1_Nonsense_Mutation_p.G523* NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 551 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) AAGGCTTCTCCTACAAACAGC 0.517 ZFC3H1 196441 broad.mit.edu 37 12 72057129 72057129 + Missense_Mutation SNP G A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr12:72057129G>A uc001swo.2 - 1 621 c.262C>T c.(262-264)CGC>TGC p.R88C ZFC3H1_uc010sts.1_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.2_Missense_Mutation_p.R88C|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 88 Ser-rich. RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TGCCGCGAGCGTGAGAAATTC 0.652 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NR1H4 9971 broad.mit.edu 37 12 100904745 100904745 + Missense_Mutation SNP G A A rs113431969 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr12:100904745G>A uc001tht.1 + 2 327 c.299G>A c.(298-300)CGT>CAT p.R100H NR1H4_uc001thp.1_Missense_Mutation_p.R90H|NR1H4_uc001thq.1_Missense_Mutation_p.R90H|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.R90H|NR1H4_uc010svk.1_Missense_Mutation_p.R90H|NR1H4_uc001ths.1_Missense_Mutation_p.R100H NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 100 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 GAACTCAGGCGTATGCCAGCT 0.522 GABRA5 2558 broad.mit.edu 37 15 27114460 27114460 + Missense_Mutation SNP T C C TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr15:27114460T>C uc001zbd.1 + 4 404 c.65T>C c.(64-66)ATG>ACG p.M22T GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 22 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGTATTTCCATGAACTTATCC 0.388 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G A A rs112615235 by1000genomes TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.2_Splice_Site Q3KRB8 RHGBB_HUMAN Homo sapiens cDNA, FLJ17072. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393 CHSY1 22856 broad.mit.edu 37 15 101718018 101718018 + Nonsense_Mutation SNP G A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr15:101718018G>A uc002bwt.1 - 4 2467 c.1984C>T c.(1984-1986)CAG>TAG p.Q662* CHSY1_uc010usd.1_Nonsense_Mutation_p.Q390* NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 662 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGGTCATACTGGCTGAAGATG 0.428 RLTPR 146206 broad.mit.edu 37 16 67683416 67683417 + Frame_Shift_Ins INS - T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr16:67683416_67683417insT uc002etn.2 + 20 1933_1934 c.1813_1814insT c.(1813-1815)CTAfs p.L605fs RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.1_Frame_Shift_Ins_p.L569fs NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 605 Tropomodulin-like. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACTCCGGGCCCTAGCCACCAAT 0.629 DPEP1 1800 broad.mit.edu 37 16 89704306 89704306 + Missense_Mutation SNP G A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr16:89704306G>A uc010cin.2 + 10 1195 c.992G>A c.(991-993)AGG>AAG p.R331K DPEP1_uc002fnr.3_Missense_Mutation_p.R331K|DPEP1_uc002fns.3_Missense_Mutation_p.R331K NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 331 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) CTGCTCAGGAGGAACTGGACG 0.627 FXR2 9513 broad.mit.edu 37 17 7495610 7495610 + Missense_Mutation SNP G A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr17:7495610G>A uc002gia.1 - 16 2115 c.1888C>T c.(1888-1890)CGC>TGC p.R630C MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank NM_004860 NP_004851 P51116 FXR2_HUMAN fragile X mental retardation syndrome related 630 cytosolic large ribosomal subunit protein binding|RNA binding 0 READ - Rectum adenocarcinoma(115;0.17) GGTTTAGTGCGTTCCAGGGGT 0.522 FKBP10 60681 broad.mit.edu 37 17 39975472 39975472 + Silent SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr17:39975472C>T uc002hxv.2 + 5 1063 c.738C>T c.(736-738)ATC>ATT p.I246I FKBP10_uc002hxw.1_5'UTR NM_021939 NP_068758 Q96AY3 FKB10_HUMAN FK506 binding protein 10 precursor 246 PPIase FKBP-type 2. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity ovary(1) 1 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) GGACAGTGATCCCCCCACAGG 0.607 NPEPPS 9520 broad.mit.edu 37 17 45681356 45681356 + Missense_Mutation SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr17:45681356C>T uc002ilr.3 + 16 2039 c.1816C>T c.(1816-1818)CGT>TGT p.R606C NPEPPS_uc010wkt.1_Missense_Mutation_p.R602C|NPEPPS_uc010wku.1_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.1_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C NM_006310 NP_006301 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 606 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 ACCAGGCATTCGTGACCTTTC 0.433 DSG1 1828 broad.mit.edu 37 18 28934664 28934664 + Silent SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:28934664C>T uc002kwp.2 + 15 2717 c.2505C>T c.(2503-2505)GTC>GTT p.V835V DSG1_uc010xbp.1_Silent_p.V194V NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 835 Desmoglein repeat 1.|Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGGTAATGTCACTGTGACCG 0.512 SLC14A2 8170 broad.mit.edu 37 18 43212315 43212315 + Missense_Mutation SNP G T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:43212315G>T uc010dnj.2 + 6 843 c.522G>T c.(520-522)AGG>AGT p.R174S SLC14A2_uc002lbb.2_Missense_Mutation_p.R174S|SLC14A2_uc002lbe.2_Missense_Mutation_p.R174S NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 174 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 TCACCGCCAGGTCTGCCATTG 0.408 MC4R 4160 broad.mit.edu 37 18 58038973 58038973 + Missense_Mutation SNP T A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:58038973T>A uc002lie.1 - 1 1029 c.610A>T c.(610-612)ATG>TTG p.M204L NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 204 Helical; Name=5; (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) AGAGCCAGCATGGTGAAGAAC 0.498 C18orf22 79863 broad.mit.edu 37 18 77796687 77796687 + Missense_Mutation SNP A C C TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr18:77796687A>C uc002lns.2 + 2 316 c.178A>C c.(178-180)AGT>CGT p.S60R TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.S60R|C18orf22_uc010dri.1_Intron NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 60 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) TTGGTATGAAAGTCCTTCCTT 0.378 MAP1S 55201 broad.mit.edu 37 19 17844106 17844106 + Nonsense_Mutation SNP G T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr19:17844106G>T uc002nhe.1 + 6 2902 c.2893G>T c.(2893-2895)GAG>TAG p.E965* MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Nonsense_Mutation_p.E213*|MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939* NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 965 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 CCTGGTGGATGAGGAGTTCTT 0.697 ZNF98 148198 broad.mit.edu 37 19 22574462 22574462 + Missense_Mutation SNP T A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr19:22574462T>A uc002nqt.2 - 4 1697 c.1575A>T c.(1573-1575)AAA>AAT p.K525N NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 525 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TGTTAAAGGCTTTGCCGCATT 0.388 CD37 951 broad.mit.edu 37 19 49840274 49840274 + Missense_Mutation SNP G A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr19:49840274G>A uc002pnd.2 + 3 372 c.251G>A c.(250-252)CGC>CAC p.R84H uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.2_Missense_Mutation_p.R16H NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 84 Cytoplasmic (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) AAGGAGCTCCGCTGCCTCCTG 0.622 GPR17 2840 broad.mit.edu 37 2 128408380 128408380 + Missense_Mutation SNP G T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr2:128408380G>T uc010yzn.1 + 4 766 c.155G>T c.(154-156)GGC>GTC p.G52V LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.G52V|GPR17_uc010yzo.1_Missense_Mutation_p.G24V|GPR17_uc002tpd.2_Missense_Mutation_p.G24V NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 52 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) gagcaatgtggccaggagacg 0.080 OREG0014966 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM123C 205147 broad.mit.edu 37 2 131521709 131521709 + Silent SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr2:131521709C>T uc002trw.2 + 2 2254 c.2064C>T c.(2062-2064)AAC>AAT p.N688N FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 688 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) TCAGCTCAAACGAACAGCCCC 0.652 CST7 8530 broad.mit.edu 37 20 24930092 24930092 + Missense_Mutation SNP C A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr20:24930092C>A uc002wtx.1 + 1 227 c.17C>A c.(16-18)GCA>GAA p.A6E NM_003650 NP_003641 O76096 CYTF_HUMAN cystatin F Error:Variant_position_missing_in_O76096_after_alignment immune response cytoplasm|extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 CCTGAGAAGGCACTGCACGGC 0.672 C20orf185 359710 broad.mit.edu 37 20 31656654 31656654 + Missense_Mutation SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr20:31656654C>T uc002wym.1 + 10 1024 c.1024C>T c.(1024-1026)CGG>TGG p.R342W NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 342 innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 ACTGTTCCTGCGGGTGAGGGA 0.562 PHF20 51230 broad.mit.edu 37 20 34487354 34487354 + Missense_Mutation SNP G T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr20:34487354G>T uc002xek.1 + 10 1456 c.1345G>T c.(1345-1347)GAC>TAC p.D449Y PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 449 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) TGTCGACCTAGACCATAAGTT 0.348 TMPRSS3 64699 broad.mit.edu 37 21 43803180 43803180 + Silent SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr21:43803180C>T uc002zbb.2 - 8 945 c.744G>A c.(742-744)ACG>ACA p.T248T TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T121T|TMPRSS3_uc002zba.2_Silent_p.T121T|TMPRSS3_uc002zbc.2_Silent_p.T248T|TMPRSS3_uc002zbd.2_Silent_p.T248T NM_024022 NP_076927 P57727 TMPS3_HUMAN transmembrane protease, serine 3 isoform 1 248 Peptidase S1.|Extracellular (Potential). cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity ovary(2)|breast(1) 3 TCCACAGGGGCGTGATGACAG 0.602 GGT5 2687 broad.mit.edu 37 22 24622188 24622188 + Missense_Mutation SNP C T T rs149456868 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr22:24622188C>T uc002zzo.3 - 8 1502 c.1085G>A c.(1084-1086)CGC>CAC p.R362H GGT5_uc002zzp.3_Missense_Mutation_p.R362H|GGT5_uc002zzr.3_Missense_Mutation_p.R330H|GGT5_uc002zzq.3_Missense_Mutation_p.R330H|GGT5_uc011ajm.1_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_RNA NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 362 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 GATCTGTTGGCGGATGAGCTG 0.692 TMEM144 55314 broad.mit.edu 37 4 159136389 159136389 + Silent SNP C G G rs149733307 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr4:159136389C>G uc003ipx.2 + 4 676 c.156C>G c.(154-156)GCC>GCG p.A52A TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 52 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) GGTTGGTTGCCTTGGTTGTCA 0.383 PIK3R1 5295 broad.mit.edu 37 5 67591246 67591246 + Splice_Site SNP A G G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr5:67591246A>G uc003jva.2 + 14 2306 c.1746_splice c.e14-2 p.M582_splice PIK3R1_uc003jvb.2_Splice_Site_p.M582_splice|PIK3R1_uc003jvc.2_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.2_Splice_Site_p.M312_splice|PIK3R1_uc003jve.2_Splice_Site_p.M261_splice|PIK3R1_uc011crb.1_Splice_Site_p.M252_splice NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(2)|p.Y580fs*1(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) ACTGTTTTTCAGGTGGTTGAC 0.363 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) FSTL4 23105 broad.mit.edu 37 5 132535036 132535036 + Missense_Mutation SNP G T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr5:132535036G>T uc003kyn.1 - 16 2498 c.2280C>A c.(2278-2280)GAC>GAA p.D760E FSTL4_uc003kym.1_Missense_Mutation_p.D409E NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 760 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAACAGCAGGTCCGGCTCCG 0.582 ARHGAP26 23092 broad.mit.edu 37 5 142281566 142281566 + Missense_Mutation SNP G A A rs148543665 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr5:142281566G>A uc011dbj.1 + 7 699 c.664G>A c.(664-666)GGG>AGG p.G222R ARHGAP26_uc003lmt.2_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.2_Missense_Mutation_p.G222R NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 222 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAAGGATTTCGGGGACTTCAA 0.448 SNX14 57231 broad.mit.edu 37 6 86253476 86253476 + Nonsense_Mutation SNP C A A TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr6:86253476C>A uc003pkr.2 - 13 1304 c.1111G>T c.(1111-1113)GAA>TAA p.E371* SNX14_uc003pkp.2_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Nonsense_Mutation_p.E319*|SNX14_uc003pks.2_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.2_Nonsense_Mutation_p.E371* NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 371 RGS. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TCATTAAATTCCTCTAACAAA 0.279 EGFR 1956 broad.mit.edu 37 7 55221821 55221822 + Missense_Mutation DNP GC AA AA rs149840192 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:55221821_55221822GC>AA uc003tqk.2 + 7 1111_1112 c.865_866GC>AA c.(865-867)GCC>AAC p.A289N EGFR_uc003tqh.2_Missense_Mutation_p.A289N|EGFR_uc003tqi.2_Missense_Mutation_p.A289N|EGFR_uc003tqj.2_Missense_Mutation_p.A289N|EGFR_uc010kzg.1_Missense_Mutation_p.A244N|EGFR_uc011kco.1_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGTG 0.589 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55233037 55233037 + Missense_Mutation SNP C G G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:55233037C>G uc003tqk.2 + 15 2033 c.1787C>G c.(1786-1788)CCG>CGG p.P596R EGFR_uc003tqi.2_Missense_Mutation_p.P596R|EGFR_uc003tqj.2_Missense_Mutation_p.P596R|EGFR_uc010kzg.1_Missense_Mutation_p.P551R|EGFR_uc011kco.1_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 596 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P596L(2) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGACCTGCCCGGCAGGAGTC 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A G G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:82784471A>G uc003uhx.2 - 2 1775 c.1486T>C c.(1486-1488)TCA>CCA p.S496P PCLO_uc003uhv.2_Missense_Mutation_p.S496P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGCTTTGCTGAGCCAGGCTGT 0.607 BPGM 669 broad.mit.edu 37 7 134346723 134346723 + Missense_Mutation SNP C T T TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:134346723C>T uc003vrv.2 + 3 1005 c.464C>T c.(463-465)TCG>TTG p.S155L BPGM_uc003vrw.2_Missense_Mutation_p.S155L|BPGM_uc003vrx.2_Missense_Mutation_p.S155L NM_199186 NP_954655 P07738 PMGE_HUMAN bisphosphoglycerate mutase 155 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 CTGCCACGGTCGGAAAGCTTA 0.473 TRY6 154754 broad.mit.edu 37 7 142482229 142482229 + Silent SNP T A A rs145494190 by1000genomes TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr7:142482229T>A uc011ksq.1 + 5 692 c.609T>A c.(607-609)CCT>CCA p.P203P uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron NR_001296 SubName: Full=Protease, serine, 3; Flags: Fragment; 0 CTGGTGGCCCTGTGGTCTGCA 0.493 SLC34A3 142680 broad.mit.edu 37 9 140128961 140128961 + Missense_Mutation SNP C T T rs138798032 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chr9:140128961C>T uc004cmf.1 + 11 1373 c.1187C>T c.(1186-1188)ACG>ATG p.T396M SLC34A3_uc011met.1_Missense_Mutation_p.T396M NM_080877 NP_543153 Q8N130 NPT2C_HUMAN solute carrier family 34 (sodium phosphate), 396 Extracellular (Potential). cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AGCGTCTTCACGGCGGCCGTC 0.721 DMD 1756 broad.mit.edu 37 X 32663088 32663088 + Missense_Mutation SNP G C C TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrX:32663088G>C uc004dda.1 - 10 1386 c.1142C>G c.(1141-1143)ACT>AGT p.T381S DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 381 Spectrin 1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TACCTCATGAGTATGAAACTG 0.353 PCDH11X 27328 broad.mit.edu 37 X 91132696 91132696 + Missense_Mutation SNP C T T rs62621113 TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrX:91132696C>T uc004efk.1 + 2 2302 c.1457C>T c.(1456-1458)ACG>ATG p.T486M PCDH11X_uc004efl.1_Missense_Mutation_p.T486M|PCDH11X_uc004efo.1_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.1_Missense_Mutation_p.T486M|PCDH11X_uc004efm.1_Missense_Mutation_p.T486M|PCDH11X_uc004efn.1_Missense_Mutation_p.T486M|PCDH11X_uc004efh.1_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 486 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 ATCCAGTTGACGAAAGTAAGT 0.438 GPRASP2 114928 broad.mit.edu 37 X 101971308 101971308 + Missense_Mutation SNP A G G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrX:101971308A>G uc004ejk.2 + 4 2845 c.1511A>G c.(1510-1512)CAT>CGT p.H504R GPRASP2_uc004ejl.2_Missense_Mutation_p.H504R|GPRASP2_uc004ejm.2_Missense_Mutation_p.H504R|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 504 cytoplasm protein binding ovary(1) 1 GGTCTTTTTCATGGGGTTGGC 0.512 PCDH11Y 83259 broad.mit.edu 37 Y 4968500 4968500 + Missense_Mutation SNP A G G TCGA-06-0750-01A-01W-0348-08 TCGA-06-0750-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx fc15ced3-5ed1-4f88-8789-09ec713bd613 26786497-ed7d-4242-93b7-6f0793c2c384 g.chrY:4968500A>G uc004fqo.2 + 2 3615 c.2881A>G c.(2881-2883)AAG>GAG p.K961E PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 961 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TACTACTTTCAAGCCTGACAG 0.458