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 AHDC1 27245 broad.mit.edu 37 1 27878461 27878461 + Missense_Mutation SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr1:27878461C>T ENST00000374011.2 - 6 1134 c.166G>A c.(166-168)Gcc>Acc p.A56T AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.A56T NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 56 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TCGGAGAAGGCGTGGGTGGAG 0.756000 9 21 0 0 0.335167 0 0 CSK 1445 broad.mit.edu 37 15 75091169 75091169 + Missense_Mutation SNP C C A TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr15:75091169C>A ENST00000220003.9 + 4 861 c.132C>A c.(130-132)gaC>gaA p.D44E CSK_ENST00000309470.9_Missense_Mutation_p.D44E|CSK_ENST00000439220.2_Missense_Mutation_p.D44E|CSK_ENST00000567571.1_Missense_Mutation_p.D44E NM_004383.2 NP_004374.1 P41240 CSK_HUMAN c-src tyrosine kinase 44 Interaction with PTPN8 (By similarity).|SH3. blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding central_nervous_system(1)|lung(2) 3 CTCCCCAGGACCCCAACTGGT 0.627000 8 61 3.86212e-05 4.72037e-05 0.361761 1 0 TTN 7273 broad.mit.edu 37 2 179458701 179458701 + Missense_Mutation SNP T T G TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr2:179458701T>G ENST00000589042.1 - 297 58643 c.58419A>C c.(58417-58419)caA>caC p.Q19473H TTN_ENST00000460472.2_Missense_Mutation_p.Q10408H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q17832H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q16905H|TTN_ENST00000342175.6_Missense_Mutation_p.Q10600H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q10533H|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17832 Fibronectin type-III 41. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAACATTAACTTGACAGAAAC 0.368000 81 213 0 0 0.870114 0 0 TXNDC11 51061 broad.mit.edu 37 16 11829975 11829975 + Silent SNP C C A TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr16:11829975C>A ENST00000356957.3 - 2 476 c.369G>T c.(367-369)cgG>cgT p.R123R TXNDC11_ENST00000283033.5_Silent_p.R123R Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 123 Thioredoxin 1. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CCTCTGAATCCCGTCGAACGT 0.522000 31 92 5.90632e-09 7.49649e-09 0.760397 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 53 0 0 0.184627 0 0 CATSPERB 79820 broad.mit.edu 37 14 92126293 92126293 + Missense_Mutation SNP A A C TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr14:92126293A>C ENST00000256343.3 - 15 1476 c.1320T>G c.(1318-1320)ttT>ttG p.F440L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 440 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTATTAATTGAAAGGTGTTGC 0.353000 68 175 0 0 0.870114 0 0 CHD2 1106 broad.mit.edu 37 15 93524619 93524619 + Missense_Mutation SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr15:93524619C>T ENST00000394196.4 + 24 4066 c.2998C>T c.(2998-3000)Cgg>Tgg p.R1000W CHD2_ENST00000557381.1_Missense_Mutation_p.R1000W NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1000 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGAAATTTTGCGGTTGGCTGA 0.383000 4 102 0 0 0.184627 0 0 HEATR5B 54497 broad.mit.edu 37 2 37227889 37227889 + Silent SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr2:37227889C>T ENST00000233099.5 - 33 5480 c.5385G>A c.(5383-5385)aaG>aaA p.K1795K HEATR5B_ENST00000354531.2_Silent_p.K1706K NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1795 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TATCTGCAGACTTTATTGCTG 0.398000 52 128 0 0 0.870114 0 0 ECHDC2 55268 broad.mit.edu 37 1 53373542 53373542 + Missense_Mutation SNP A A G TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr1:53373542A>G ENST00000536120.1 - 7 1041 c.224T>C c.(223-225)aTc>aCc p.I75T ECHDC2_ENST00000371522.4_Missense_Mutation_p.I121T|ECHDC2_ENST00000358358.5_Missense_Mutation_p.I121T|ECHDC2_ENST00000541281.1_Missense_Mutation_p.I75T Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 121 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 ATCCTCACCGATGTCATTCAT 0.607000 4 57 0 0 0.184627 0 0 STRN4 29888 broad.mit.edu 37 19 47234130 47234130 + Splice_Site SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr19:47234130C>T ENST00000391910.3 - 6 1188 c.737_splice c.e6-1 p.R246_splice STRN4_ENST00000263280.6_Splice_Site_p.R246_splice|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Splice_Site_p.R127_splice Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 246 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CTGCCGCGTTCCTGCCAAAGA 0.622000 11 116 0 0 0.387290 0 0 KAT6A 7994 broad.mit.edu 37 8 41801275 41801275 + Missense_Mutation SNP C C A TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr8:41801275C>A ENST00000396930.3 - 14 2762 c.2219G>T c.(2218-2220)cGt>cTt p.R740L KAT6A_ENST00000406337.1_Missense_Mutation_p.R740L|KAT6A_ENST00000265713.2_Missense_Mutation_p.R740L|KAT6A_ENST00000485568.1_Missense_Mutation_p.R740L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 740 Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CTGGTCACTACGGAAGTCCAG 0.403000 29 74 1.80694e-10 2.38517e-10 0.740014 1 0 OR1E1 8387 broad.mit.edu 37 17 3301331 3301331 + Missense_Mutation SNP G G T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr17:3301331G>T ENST00000322608.2 - 1 373 c.374C>A c.(373-375)gCc>gAc p.A125D NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 GAAGCAGATGGCCACATAGCG 0.572000 4 100 0.150653 0.160373 0.150653 1 0 ASAH2 56624 broad.mit.edu 37 10 51974612 51974612 + Missense_Mutation SNP G G C TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr10:51974612G>C ENST00000395526.3 - 8 1030 c.1031C>G c.(1030-1032)gCc>gGc p.A344G ASAH2_ENST00000443575.1_Missense_Mutation_p.A186G|ASAH2_ENST00000447815.1_Missense_Mutation_p.A344G|ASAH2_ENST00000329428.6_Missense_Mutation_p.A325G NM_019893.2 NP_063946.2 Q9NR71 ASAH2_HUMAN N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 344 apoptosis|ceramide metabolic process|signal transduction integral to membrane|mitochondrion|plasma membrane ceramidase activity large_intestine(1)|lung(9)|urinary_tract(1) 11 TGAAGCAAAGGCTGCTACAAA 0.433000 43 76 0 0 0.864702 0 0 GNA12 2768 broad.mit.edu 37 7 2770999 2770999 + Missense_Mutation SNP G G T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr7:2770999G>T ENST00000275364.3 - 4 1124 c.962C>A c.(961-963)cCg>cAg p.P321Q GNA12_ENST00000407653.1_Missense_Mutation_p.P245Q|GNA12_ENST00000407904.3_Missense_Mutation_p.P262Q|GNA12_ENST00000396960.3_Missense_Mutation_p.P173Q|GNA12_ENST00000491117.1_5'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000544127.1_Missense_Mutation_p.P228Q NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 321 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) CAGCCTGTGCGGGTCGCCCCT 0.582000 3 75 0.00909568 0.0100052 0.150653 1 0 MST1L 11223 broad.mit.edu 37 1 17085189 17085189 + RNA SNP A A G TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr1:17085189A>G ENST00000455405.2 - 0 87 p.S428P(1) TCCAGGATTGATGGCGGCTGG 0.572000 3 70 0 0 0.150653 0 0 FAM217B 63939 broad.mit.edu 37 20 58520018 58520018 + Missense_Mutation SNP G G T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr20:58520018G>T ENST00000358293.3 + 5 1435 c.1020G>T c.(1018-1020)aaG>aaT p.K340N FAM217B_ENST00000360816.3_Missense_Mutation_p.K340N|FAM217B_ENST00000469084.1_3'UTR NM_001190826.1 NP_001177755.1 Q9NTX9 CT177_HUMAN family with sequence similarity 217, member B 340 ATTCCTGTAAGGCCTCCAAAA 0.493000 4 87 0.000602214 0.000685278 0.184627 1 0 CCDC114 93233 broad.mit.edu 37 19 48807247 48807247 + Silent SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr19:48807247C>T ENST00000315396.7 - 7 1387 c.705G>A c.(703-705)caG>caA p.Q235Q NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 235 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CGGGATCCGGCTGCCGGTCGT 0.642000 58 105 0 0 0.870114 0 0 AGPAT9 84803 broad.mit.edu 37 4 84502830 84502830 + Silent SNP A A G TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr4:84502830A>G ENST00000395226.2 + 4 542 c.324A>G c.(322-324)gtA>gtG p.V108V AGPAT9_ENST00000264409.4_Silent_p.V108V NM_001256421.1 NP_001243350.1 Q53EU6 GPAT3_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 9 108 phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane glycerol-3-phosphate O-acyltransferase activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3) 13 Hepatocellular(203;0.114) AAGCCATTGTAGAAGATGAAG 0.463000 89 196 0 0 0.870114 0 0 TACR3 6870 broad.mit.edu 37 4 104512715 104512715 + Silent SNP G G A TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr4:104512715G>A ENST00000304883.2 - 4 1154 c.1014C>T c.(1012-1014)taC>taT p.Y338Y RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 338 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGCTAGCCAGGTAGACCTGCT 0.398000 62 153 0 0 0.870114 0 0 OTOA 146183 broad.mit.edu 37 16 21698935 21698935 + Missense_Mutation SNP C C T TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr16:21698935C>T ENST00000388958.3 + 7 602 c.601C>T c.(601-603)Cct>Tct p.P201S OTOA_ENST00000388956.4_Missense_Mutation_p.P122S|OTOA_ENST00000286149.4_Missense_Mutation_p.P201S NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 201 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) AGAGCGGCTCCCTCGGGACCT 0.532000 24 51 0 0 0.624587 0 0 YIPF7 285525 broad.mit.edu 37 4 44631452 44631452 + Missense_Mutation SNP A A G TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr4:44631452A>G ENST00000332990.5 - 4 482 c.466T>C c.(466-468)Ttt>Ctt p.F156L NM_182592.2 NP_872398.2 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 156 endoplasmic reticulum membrane|integral to membrane breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1) 12 GCTACGCAAAAAAGAATGGGT 0.443000 6 23 0 0 0.278610 0 0 KCNB1 3745 broad.mit.edu 37 20 47991026 47991026 + Silent SNP G G A TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr20:47991026G>A ENST00000371741.4 - 2 1237 c.1071C>T c.(1069-1071)gaC>gaT p.D357D NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 357 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.D357D(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ACTTGGTGTCGTCCTCATCCT 0.517000 5 65 0 0 0.184627 0 0 OCLN 100506658 broad.mit.edu 37 5 68840911 68840911 + Silent SNP C C G TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr5:68840911C>G ENST00000355237.2 + 6 1654 c.1218C>G c.(1216-1218)ggC>ggG p.G406G OCLN_ENST00000396442.2_Silent_p.G406G|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000538151.1_Silent_p.G155G|OCLN_ENST00000380766.2_Silent_p.G352G|OCLN_ENST00000542132.1_Silent_p.G84G NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 406 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CAACTGGCGGCGAGTCCTGTG 0.507000 27 191 0 0 0.750413 0 0 PCDH10 57575 broad.mit.edu 37 4 134072600 134072601 + Frame_Shift_Ins INS - - C TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr4:134072600_134072601insC ENST00000264360.4 + 1 2131_2132 c.1305_1306insC c.(1303-1308)gcgggafs p.AG435fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 435 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A435A(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTGTAGTGGCTCGGGACCGGGG 0.594 9 327 --- --- --- --- EIF3CL 728689 broad.mit.edu 37 16 28403353 28403355 + In_Frame_Del DEL TCC TCC - TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr16:28403353_28403355delTCC ENST00000398943.3 - 9 1021_1023 c.885_887delGGA c.(883-888)gac>ga p.ED295del EIF3CL_ENST00000380876.4_In_Frame_Del_p.ED295del|EIF3CL_ENST00000398944.3_In_Frame_Del_p.ED295del eukaryotic translation initiation factor 3, subunit C-like GCCTTCATTGTCCTCCTCCTCCT 0.547 3 5 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29372348 29372348 + RNA DEL T T - TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr16:29372348delT ENST00000398878.3 + 0 1186 SNX29P2_ENST00000507381.1_RNA TGGGAGGttgttttttttttt 0.478 4 5 --- --- --- --- NPIPB1P 729602 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 3 3 --- --- --- --- CABP7 164633 broad.mit.edu 37 22 30124615 30124621 + Splice_Site DEL CCAGGTG CCAGGTG - TCGA-BP-4177-01A-02D-1421-08 TCGA-BP-4177-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx ed088c23-e2ca-491b-94c0-9a5b66a1bd88 6336e23d-aedb-496b-a978-c4ad8ee66323 g.chr22:30124615_30124621delCCAGGTG ENST00000216144.3 + 3 594_597 c.253_splice c.e3-1 p.85_splice NM_182527.2 NP_872333.1 Q86V35 CABP7_HUMAN calcium binding protein 7 85 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) TGTGCCTCCACCAGGTGATGGTCAAGT 0.575 16 68 --- --- --- ---