Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ARHGAP17 55114 broad.mit.edu 37 16 24953431 24953431 + Missense_Mutation SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr16:24953431G>A ENST00000289968.6 - 16 1436 c.1367C>T c.(1366-1368)cCt>cTt p.P456L ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.P456L NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 456 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GGTGGTGAGAGGTACAAATGC 0.507000 3 119 0 0 0.184627 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378325 18378325 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr19:18378325G>A ENST00000392413.3 - 3 240 c.25C>T c.(25-27)Ctg>Ttg p.L9L KIAA1683_ENST00000600328.2_Silent_p.L9L|KIAA1683_ENST00000600359.2_5'UTR NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 9 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TTACCGGACAGGTCAGCTCTG 0.667000 3 101 0 0 0.115264 0 0 ZNF169 169841 broad.mit.edu 37 9 97063337 97063337 + Silent SNP G G T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr9:97063337G>T ENST00000395395.2 + 5 1587 c.1497G>T c.(1495-1497)tcG>tcT p.S499S ZNF169_ENST00000340911.4_3'UTR NM_194320.2 NP_919301.2 Q14929 ZN169_HUMAN zinc finger protein 169 499 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(62;0.136) GCTTTAAGTCGCTCCTCACCC 0.547000 47 46 1.67211e-32 2.10562e-32 0.870114 1 0 SOWAHB 345079 broad.mit.edu 37 4 77816864 77816864 + Missense_Mutation SNP A A T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr4:77816864A>T ENST00000334306.2 - 1 2138 c.2139T>A c.(2137-2139)agT>agA p.S713R NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 713 CAGAGGTATTACTGGTTAGAT 0.522000 7 506 0 0 0.335167 0 0 FAM129A 116496 broad.mit.edu 37 1 184792832 184792832 + Missense_Mutation SNP C C G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr1:184792832C>G ENST00000367511.3 - 7 955 c.762G>C c.(760-762)caG>caC p.Q254H FAM129A_ENST00000487074.1_Intron NM_052966.2 NP_443198.1 Q9BZQ8 NIBAN_HUMAN family with sequence similarity 129, member A 254 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 GCAGGTCTGTCTGAAGAGTGG 0.512000 3 109 0 0 0.115264 0 0 MYO18B 84700 broad.mit.edu 37 22 26423340 26423340 + Missense_Mutation SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr22:26423340G>A ENST00000335473.7 + 43 7650 c.7400G>A c.(7399-7401)gGt>gAt p.G2467D MYO18B_ENST00000407587.2_Missense_Mutation_p.G2468D|MYO18B_ENST00000536101.1_Missense_Mutation_p.G2467D NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2467 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GGGCAAGACGGTTCACAGCGT 0.542000 4 94 0 0 0.184627 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406952 75406952 + Missense_Mutation SNP A A G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr10:75406952A>G ENST00000394810.2 - 4 2607 c.2458T>C c.(2458-2460)Ttt>Ctt p.F820L SYNPO2L_ENST00000372873.4_Missense_Mutation_p.F596L|SYNPO2L_ENST00000372872.4_Intron NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 820 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) TGGGGGAAAAAGGGAGAGAGC 0.577000 3 136 0 0 0.184627 0 0 EGFLAM 133584 broad.mit.edu 37 5 38448474 38448474 + Silent SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr5:38448474T>C ENST00000322350.5 + 18 2882 c.2536T>C c.(2536-2538)Ttg>Ctg p.L846L EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000354891.3_Silent_p.L854L|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397202.2_Silent_p.L212L|EGFLAM_ENST00000336740.6_Silent_p.L612L NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 854 Laminin G-like 3. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CCCAGATATCTTGAAGAGGTA 0.438000 4 166 0 0 0.184627 0 0 SYCP2L 221711 broad.mit.edu 37 6 10894117 10894117 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr6:10894117G>A ENST00000283141.6 + 3 392 c.96G>A c.(94-96)acG>acA p.T32T SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 32 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CACTTATTACGGATGCATTCC 0.299000 4 53 0 0 0.217242 0 0 COG5 0 broad.mit.edu 37 7 106851577 106851577 + Silent SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr7:106851577C>A ENST00000393603.2 - 20 2626 c.2355G>T c.(2353-2355)acG>acT p.T785T COG5_ENST00000297135.3_Silent_p.T785T|COG5_ENST00000347053.3_Silent_p.T764T NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 764 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CGGGTGCTCTCGTGAACAAAA 0.468000 3 109 0.115264 0.126419 0.115264 1 0 MLH3 27030 broad.mit.edu 37 14 75514649 75514649 + Silent SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr14:75514649T>C ENST00000355774.2 - 2 1925 c.1710A>G c.(1708-1710)acA>acG p.T570T MLH3_ENST00000556740.1_Silent_p.T570T|MLH3_ENST00000556257.1_Silent_p.T570T|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Silent_p.T570T NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 570 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CTCCCCATAATGTTGTTGCAA 0.363000 Mismatch excision repair (MMR) 3 96 0 0 0.115264 0 0 CRAT 1384 broad.mit.edu 37 9 131866547 131866547 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr9:131866547G>A ENST00000318080.2 - 3 624 c.330C>T c.(328-330)taC>taT p.Y110Y CRAT_ENST00000464290.1_Intron NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 110 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) CAGGCTGGCGGTACTGGAGGT 0.637000 3 35 0 0 0.115264 0 0 KRTAP4-4 84616 broad.mit.edu 37 17 39316834 39316834 + Missense_Mutation SNP C C T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr17:39316834C>T ENST00000390661.3 - 1 149 c.110G>A c.(109-111)cGc>cAc p.R37H NM_032524.1 NP_115913.1 Q9BYR3 KRA44_HUMAN keratin associated protein 4-4 37 26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR]. keratin filament kidney(1)|large_intestine(1)|lung(5) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCAGCTGGGGCGGCAGCAGGT 0.652000 4 186 0 0 0.150653 0 0 TRIB3 57761 broad.mit.edu 37 20 377081 377081 + Missense_Mutation SNP G G A rs140801463 TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr20:377081G>A ENST00000217233.3 + 4 1377 c.824G>A c.(823-825)cGc>cAc p.R275H TRIB3_ENST00000422053.2_Missense_Mutation_p.R302H NM_021158.3 NP_066981.2 Q96RU7 TRIB3_HUMAN tribbles pseudokinase 3 275 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1) 21 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) AAGATCCGCCGCGGGGCCTAC 0.692000 5 97 0 0 0.278610 0 0 CCDC157 550631 broad.mit.edu 37 22 30772567 30772567 + Missense_Mutation SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr22:30772567T>C ENST00000405659.1 + 12 2801 c.2092T>C c.(2092-2094)Tct>Cct p.S698P CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 698 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CACATCCCCATCTCGGCAGCC 0.667000 5 300 0 0 0.217242 0 0 TMEM67 91147 broad.mit.edu 37 8 94809588 94809588 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr8:94809588C>A ENST00000453321.3 + 20 2048 c.1990C>A c.(1990-1992)Cct>Act p.P664T TMEM67_ENST00000409623.3_Missense_Mutation_p.P583T NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 664 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) TGCCACTGTTCCTGTAAGCAT 0.373000 46 98 2.40265e-35 3.14193e-35 0.870114 1 0 MYH7 4625 broad.mit.edu 37 14 23885503 23885503 + Missense_Mutation SNP C C T TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr14:23885503C>T ENST00000355349.3 - 34 4825 c.4663G>A c.(4663-4665)Gag>Aag p.E1555K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1555 E -> K (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATCTTGCCCTCCTCGTGCTCC 0.627000 8 217 0 0 0.335167 0 0 FKBP7 51661 broad.mit.edu 37 2 179341923 179341923 + Missense_Mutation SNP C C G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr2:179341923C>G ENST00000424785.2 - 2 297 c.239G>C c.(238-240)gGc>gCc p.G80A FKBP7_ENST00000434643.2_Missense_Mutation_p.G80A|FKBP7_ENST00000464248.1_5'UTR NM_001135212.1|NM_181342.2 NP_001128684.1|NP_851939.1 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 80 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TTTGGGGTGGCCTTCATTTTG 0.383000 7 85 0 0 0.387290 0 0 FKBP8 23770 broad.mit.edu 37 19 18650451 18650451 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr19:18650451G>A ENST00000597960.2 - 3 492 c.372C>T c.(370-372)acC>acT p.T124T FKBP8_ENST00000222308.3_Silent_p.T124T|FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Silent_p.T153T|FKBP8_ENST00000596558.1_Silent_p.T124T Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 124 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GCAGATGTACGGTGACCACCT 0.652000 4 202 0 0 0.184627 0 0 EFS 0 broad.mit.edu 37 14 23826572 23826572 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr14:23826572C>A ENST00000216733.3 - 6 2156 c.1549G>T c.(1549-1551)Gcc>Tcc p.A517S EFS_ENST00000351354.3_Missense_Mutation_p.A424S|EFS_ENST00000429593.2_Missense_Mutation_p.A348S NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 517 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) AGCACAGTGGCCCGCAATGCC 0.647000 11 81 0.010729 0.0125789 0.387290 1 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 3 63 0 0 0.150653 0 0 DSCAM 1826 broad.mit.edu 37 21 41414505 41414505 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr21:41414505G>A ENST00000400454.1 - 32 5956 c.5479C>T c.(5479-5481)Ctg>Ttg p.L1827L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1827 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GCGTGCCTCAGTTGCTCTTCC 0.537000 4 136 0 0 0.217242 0 0 DSG4 147409 broad.mit.edu 37 18 28986167 28986167 + Silent SNP T T C TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr18:28986167T>C ENST00000359747.4 + 12 1793 c.1764T>C c.(1762-1764)gaT>gaC p.D588D RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.D588D NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 588 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATGCCTGTGATTGCGATGACA 0.483000 10 99 0 0 0.387290 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 72 0 0 0.150653 0 0 STAT5B 6777 broad.mit.edu 37 17 40354774 40354774 + Splice_Site SNP C C G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr17:40354774C>G ENST00000293328.3 - 17 2298 c.e17+1 NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) TGGACACTTACTCAGGGACCA 0.532000 9 232 0 0 0.335167 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 4 194 0 0 0.184627 0 0 ERBB4 2066 broad.mit.edu 37 2 212248348 212248348 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr2:212248348C>A ENST00000342788.4 - 28 4229 c.3919G>T c.(3919-3921)Gtg>Ttg p.V1307L ERBB4_ENST00000436443.1_Missense_Mutation_p.V1291L|ERBB4_ENST00000402597.1_Missense_Mutation_p.V1297L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1307 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GCTTACACCACAGTATTCCGG 0.537000 TSP Lung(8;0.080) 3 100 0.150653 0.160069 0.150653 1 0 POTEE 445582 broad.mit.edu 37 2 131976198 131976198 + Missense_Mutation SNP A A G TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr2:131976198A>G ENST00000356920.5 + 1 317 c.223A>G c.(223-225)Agt>Ggt p.S75G POTEE_ENST00000358087.5_Missense_Mutation_p.S75G|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 75 ATP binding CTGCAGGGGGAGTGGCAAGAG 0.587000 3 196 0 0 0.184627 0 0 IFLTD1 160492 broad.mit.edu 37 12 25702464 25702464 + Nonsense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr12:25702464C>A ENST00000282881.6 - 2 192 c.43G>T c.(43-45)Gga>Tga p.G15* IFLTD1_ENST00000445693.1_Intron|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.G36*|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.G36* NM_152590.3 NP_689803.2 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 15 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GAATATACTCCAAGTTTGTCT 0.323000 4 107 0.000602214 0.00073126 0.184627 1 0 CSMD1 64478 broad.mit.edu 37 8 3165913 3165913 + Silent SNP G G A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr8:3165913G>A ENST00000602557.1 - 25 4302 c.3747C>T c.(3745-3747)taC>taT p.Y1249Y CSMD1_ENST00000602723.1_Silent_p.Y1249Y|CSMD1_ENST00000542608.1_Silent_p.Y1248Y|CSMD1_ENST00000537824.1_Silent_p.Y1248Y|CSMD1_ENST00000539096.1_Silent_p.Y1248Y|CSMD1_ENST00000520002.1_Silent_p.Y1249Y|CSMD1_ENST00000400186.3_Silent_p.Y1249Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1249 Sushi 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATGCATGGCGTACCCCGGGT 0.517000 3 44 0 0 0.150653 0 0 NFAT5 10725 broad.mit.edu 37 16 69727410 69727410 + Missense_Mutation SNP C C A TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr16:69727410C>A ENST00000349945.1 + 14 4952 c.3400C>A c.(3400-3402)Cag>Aag p.Q1134K NFAT5_ENST00000566899.1_Missense_Mutation_p.Q1134K|NFAT5_ENST00000567239.1_Missense_Mutation_p.Q1227K|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q1210K|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q1228K|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q1134K NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1210 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGGTTTATTTCAGCCTCAGGT 0.512000 4 110 0.014758 0.0167257 0.184627 1 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 4 --- --- --- --- CAMK2B 816 broad.mit.edu 37 7 44269096 44269096 + Frame_Shift_Del DEL G G - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr7:44269096delG ENST00000395749.2 - 18 1306 c.1230delC c.(1228-1230)ccfs p.P410fs CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000347193.4_Intron NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 410 interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CGGGGACCCTGGGGGCTGAGG 0.697 2 4 --- --- --- --- AC096582.1 0 broad.mit.edu 37 7 45905738 45905740 + In_Frame_Del DEL TGC TGC - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr7:45905738_45905740delTGC ENST00000596600.1 - 1 305_307 c.306_308delGCA c.(304-309)caa>ca p.QQ102del GAGGGACTCTtgctgctgctgct 0.626 4 7 --- --- --- --- C10orf71 118461 broad.mit.edu 37 10 50531657 50531657 + Frame_Shift_Del DEL C C - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr10:50531657delC ENST00000374144.3 + 3 1355 c.1067delC c.(1066-1068)gcfs p.A356fs C10orf71_ENST00000323868.4_Frame_Shift_Del_p.A356fs Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 356 endometrium(1) 1 GATCCAGGAGCCCAGGTATTT 0.567 43 55 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5425504 5425504 + RNA DEL G G - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr16:5425504delG ENST00000569895.1 + 0 304 GGGAGGGCCAGGGGGCAGGGG 0.547 2 4 --- --- --- --- AC005307.3 0 broad.mit.edu 37 19 28956713 28956715 + RNA DEL GAG GAG - TCGA-EL-A3H2-01A-11D-A20C-08 TCGA-EL-A3H2-11A-11D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b7c0270b-eab4-4c6b-a07f-fbf49aa8da00 6ca274f1-73d3-49b2-8ee7-ac03ed50ec79 g.chr19:28956713_28956715delGAG ENST00000592347.1 - 0 1021 agaagaagaagaggaggaggagg 0.419 2 4 --- --- --- ---