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 MUC2 4583 broad.mit.edu 37 11 1093740 1093740 + Silent SNP G G C TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr11:1093740G>C ENST00000441003.2 + 30 5586 c.5559G>C c.(5557-5559)ccG>ccC p.P1853P MUC2_ENST00000333592.6_Silent_p.P141P|MUC2_ENST00000361558.6_Intron NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1856 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCAATCCTCCGCCTGAGTCCT 0.602000 58 121 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740356 50740356 + Splice_Site SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr6:50740356A>G ENST00000008391.3 + 8 1367 c.e8-1 NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TCTCATTTCCAGTTTGATCAC 0.378000 4 34 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52430944 52430944 + Missense_Mutation SNP C C T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr3:52430944C>T ENST00000420323.2 + 73 11932 c.11671C>T c.(11671-11673)Cgg>Tgg p.R3891W NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3956 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGACTGGGACCGGCGCTGCAT 0.607000 17 17 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115945062 115945062 + Missense_Mutation SNP T T C TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr9:115945062T>C ENST00000238256.3 - 19 2015 c.1898A>G c.(1897-1899)cAt>cGt p.H633R NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 633 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTGTTCAGCATGCAATACTCT 0.463000 81 119 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26967554 26967554 + Missense_Mutation SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr13:26967554A>G ENST00000381527.3 + 7 1200 c.697A>G c.(697-699)Ata>Gta p.I233V CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 233 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) GTCAGAACCAATATTTCACTG 0.343000 7 138 0 0 1 0 0 MTMR14 64419 broad.mit.edu 37 3 9695406 9695406 + Silent SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr3:9695406G>A ENST00000296003.4 + 2 383 c.261G>A c.(259-261)cgG>cgA p.R87R MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000353332.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron NM_001077525.2 NP_001070993.1 Q8NCE2 MTMRE_HUMAN myotubularin related protein 14 87 perinuclear region of cytoplasm|ruffle phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 21 Medulloblastoma(99;0.227) ACTATCCCCGGCACATCGTGT 0.507000 4 98 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4937890 4937890 + Missense_Mutation SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr6:4937890G>A ENST00000328908.5 + 6 1333 c.1202G>A c.(1201-1203)tGt>tAt p.C401Y CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like 401 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) GTCTTCTGTTGTGGACTTGAC 0.458000 10 58 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 58 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660172 46660172 + Missense_Mutation SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr6:46660172A>G ENST00000544460.1 + 1 4561 c.4307A>G c.(4306-4308)cAt>cGt p.H1436R TDRD6_ENST00000316081.6_Missense_Mutation_p.H1436R NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1436 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) AAAATGATGCATTACTTTTCC 0.398000 10 171 0 0 1 0 0 OAS3 4940 broad.mit.edu 37 12 113400550 113400550 + Missense_Mutation SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr12:113400550G>A ENST00000228928.7 + 9 2106 c.1927G>A c.(1927-1929)Ggc>Agc p.G643S RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 643 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CTGGGAGCAGGGCTGCAGGCA 0.597000 15 98 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 31 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38143490 38143490 + Missense_Mutation SNP C C A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr13:38143490C>A ENST00000379747.4 - 21 2495 c.2378G>T c.(2377-2379)gGt>gTt p.G793V POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 793 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.G793D(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACCATCACCACCTTCAATGAA 0.363000 22 47 0.000295444 0.000295444 1 1 0 CD68 968 broad.mit.edu 37 17 7484227 7484227 + Silent SNP G G A rs149306377 TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr17:7484227G>A ENST00000250092.6 + 5 985 c.774G>A c.(772-774)tcG>tcA p.S258S CD68_ENST00000380498.6_Silent_p.S231S NM_001251.2 NP_001242.2 P34810 CD68_HUMAN CD68 molecule 258 endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane endometrium(1)|lung(1)|skin(1) 3 GGACATTCTCGGCTCAGAATG 0.562000 9 43 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169512035 169512035 + Missense_Mutation SNP C C T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr1:169512035C>T ENST00000367796.3 - 13 2509 c.2308G>A c.(2308-2310)Gtt>Att p.V770I F5_ENST00000367797.3_Missense_Mutation_p.V765I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 765 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTGAAGAAACGAATTCAGTG 0.393000 60 94 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644560 20644560 + RNA SNP G G C rs11248783 TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr15:20644560G>C ENST00000428453.1 - 0 3187 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ACAGGGAAGGGAGACGGCCAC 0.632000 4 6 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 34 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3628342 3628342 + Missense_Mutation SNP C C A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr17:3628342C>A ENST00000325418.4 + 1 1132 c.1113C>A c.(1111-1113)gaC>gaA p.D371E ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 371 cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity CCACCCAGGACCTGACTCCTT 0.488000 18 30 2.4624e-09 2.565e-09 1 1 0 SPATA31D1 389763 broad.mit.edu 37 9 84607526 84607526 + Missense_Mutation SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr9:84607526G>A ENST00000344803.2 + 4 2188 c.2141G>A c.(2140-2142)cGt>cAt p.R714H NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCATTGCTACGTCCTCAGAGC 0.473000 23 25 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96799705 96799705 + Splice_Site SNP G G A rs148110898 TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr2:96799705G>A ENST00000342380.2 - 4 335 c.337_splice c.e4+1 p.Y112_splice NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 112 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CTCACTCACCGTACTTGCTGG 0.582000 12 13 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178421757 178421757 + Missense_Mutation SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr1:178421757A>G ENST00000448150.3 + 11 2743 c.1925A>G c.(1924-1926)aAg>aGg p.K642R RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R|RASAL2_ENST00000462775.1_Missense_Mutation_p.K512R NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 512 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTTATTGCCAAGGTCATTCAG 0.418000 25 57 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 18 21 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122757971 122757971 + Silent SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:122757971A>G ENST00000245838.8 - 27 3289 c.3258T>C c.(3256-3258)gaT>gaC p.D1086D THOC2_ENST00000491737.1_Silent_p.D971D|THOC2_ENST00000355725.4_Silent_p.D1086D NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1086 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 AGTCTAATTGATCAGCCTTAT 0.323000 33 31 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAAATCTTTGCGGGCCATCAG 0.517000 4 240 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49071867 49071867 + Missense_Mutation SNP C C T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:49071867C>T ENST00000376265.2 - 28 3467 c.3406G>A c.(3406-3408)Gtc>Atc p.V1136I CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 1136 Dihydropyridine binding (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTGATGATGACGAAGCCCACG 0.502000 7 16 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791836 42791836 + Missense_Mutation SNP T T C TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr19:42791836T>C ENST00000572681.2 + 6 3517 c.3449T>C c.(3448-3450)cTg>cCg p.L1150P CIC_ENST00000160740.3_Missense_Mutation_p.L241P|CIC_ENST00000575354.2_Missense_Mutation_p.L241P Q96RK0 CIC_HUMAN capicua transcriptional repressor 241 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TGGTATGCCCTGGGGCCCAAG 0.612000 """Mis, F, S""" oligodendroglioma 15 7 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109370354 109370354 + Missense_Mutation SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr2:109370354A>G ENST00000283195.6 + 15 2255 c.2129A>G c.(2128-2130)tAt>tGt p.Y710C NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 710 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGCAAAAATTATCTGAGAAAG 0.348000 76 93 0 0 1 0 0 DRD3 1814 broad.mit.edu 37 3 113847660 113847660 + Missense_Mutation SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr3:113847660G>A ENST00000383673.2 - 7 1536 c.1106C>T c.(1105-1107)aCa>aTa p.T369I DRD3_ENST00000467632.1_Missense_Mutation_p.T369I|DRD3_ENST00000460779.1_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 369 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GCCCAGCCATGTCGTGGCACT 0.542000 93 143 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431378 135431378 + Missense_Mutation SNP A A T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:135431378A>T ENST00000394143.1 + 6 5804 c.5513A>T c.(5512-5514)tAt>tTt p.Y1838F GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1838 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TCATTTGTTTATTCACCTCAT 0.438000 14 103 0 0 1 0 0 PAGE1 8712 broad.mit.edu 37 X 49459349 49459349 + Missense_Mutation SNP A A T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:49459349A>T ENST00000376150.3 - 2 157 c.25T>A c.(25-27)Tat>Aat p.Y9N NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 9 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) CTACGCCGATAGATTAATCTT 0.373000 16 15 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 88047292 88047292 + Missense_Mutation SNP T T C TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr4:88047292T>C ENST00000307808.6 + 13 3014 c.2594T>C c.(2593-2595)cTc>cCc p.L865P AFF1_ENST00000395146.4_Missense_Mutation_p.L872P|AFF1_ENST00000544085.1_Missense_Mutation_p.L503P NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 865 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AAGGAAATGCTCCCCCCGCCA 0.577000 8 75 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53880246 53880246 + Missense_Mutation SNP C C G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr12:53880246C>G ENST00000267079.2 - 4 732 c.507G>C c.(505-507)aaG>aaC p.K169N MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 169 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 TGTTGGGGTGCTTCAGCTTTC 0.582000 12 41 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662867 99662867 + Silent SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:99662867G>A ENST00000373034.4 - 1 2404 c.729C>T c.(727-729)taC>taT p.Y243Y PCDH19_ENST00000420881.2_Silent_p.Y243Y|PCDH19_ENST00000255531.7_Silent_p.Y243Y NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 243 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 CGCTCACCGCGTAGGTGGACT 0.627000 19 94 0 0 1 0 0 CHD6 0 broad.mit.edu 37 20 40102094 40102094 + Silent SNP C C G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr20:40102094C>G ENST00000373233.3 - 17 2709 c.2532G>C c.(2530-2532)cgG>cgC p.R844R CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 844 Helicase C-terminal. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GCTTACAGAACCGGTCGATGG 0.537000 4 46 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9014244 9014244 + Missense_Mutation SNP C C G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr16:9014244C>G ENST00000344836.4 - 5 781 c.583G>C c.(583-585)Gta>Cta p.V195L USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 195 Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TCCGCCTGTACAAAGACTTCA 0.378000 25 38 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519123 129519123 + Missense_Mutation SNP G G T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:129519123G>T ENST00000276218.2 - 1 388 c.299C>A c.(298-300)aCc>aAc p.T100N NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 100 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 CCTGTCAAAGGTGATCAGCAT 0.587000 101 122 1.79411e-48 1.90862e-48 1 1 0 SEMA3A 10371 broad.mit.edu 37 7 83739852 83739852 + Silent SNP C C T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr7:83739852C>T ENST00000265362.3 - 4 701 c.387G>A c.(385-387)ttG>ttA p.L129L SEMA3A_ENST00000436949.1_Silent_p.L129L NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 129 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CACAGGCGTACAAGTGAGTCT 0.383000 13 87 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17429999 17429999 + Missense_Mutation SNP T T A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr11:17429999T>A ENST00000302539.4 - 23 2888 c.2763A>T c.(2761-2763)gaA>gaT p.E921D ABCC8_ENST00000389817.3_Missense_Mutation_p.E920D NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 920 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGAGCTGGCATTCAGACCTCT 0.557000 15 43 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117786329 117786329 + Missense_Mutation SNP A A G TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr9:117786329A>G ENST00000350763.4 - 27 6829 c.6418T>C c.(6418-6420)Tac>Cac p.Y2140H TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H|TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 2140 Fibrinogen C-terminal. YKGA -> TRG (in Ref. 2; CAA39628). cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GCCCCTTTGTAGGACAGAGCA 0.537000 3 75 0 0 1 0 0 INSR 0 broad.mit.edu 37 19 7132266 7132266 + Silent SNP C C A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr19:7132266C>A ENST00000341500.5 - 13 2748 c.2709G>T c.(2707-2709)ggG>ggT p.G903G INSR_ENST00000302850.5_Silent_p.G915G NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 915 Fibronectin type-III 3. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCGGTGACAGCCCACGCAGCC 0.617000 13 18 4.3838e-07 4.47327e-07 1 1 0 ACKR4 51554 broad.mit.edu 37 3 132319326 132319326 + Silent SNP C C T TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr3:132319326C>T ENST00000249887.2 + 2 181 c.85C>T c.(85-87)Ctg>Ttg p.L29L ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 p.L29L(1) TCAATATGAACTGATCTGTAT 0.378000 4 23 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97843039 97843039 + Missense_Mutation SNP G G A TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr9:97843039G>A ENST00000375315.2 + 14 2296 c.2296G>A c.(2296-2298)Gag>Aag p.E766K C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 766 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) CAAAAGTGTGGAGAGGTTCCT 0.502000 12 41 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 113933961 113933962 + Frame_Shift_Del DEL TG TG - TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr1:113933961_113933962delTG ENST00000369615.1 + 1 368_369 c.306_307delTG c.(304-309)actgfs p.TV102fs MAGI3_ENST00000369611.4_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000307546.9_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000486456.1_3'UTR NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 102 Interaction with ADRB1 and TGFA (By similarity).|PDZ 1. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTCTCAAGACTGTGAAACCAGG 0.663 2 4 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 206717 206736 + RNA DEL GGGACCCGCGCTCCTGTCGG GGGACCCGCGCTCCTGTCGG - rs36228091 TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG ENST00000356347.3 + 0 172 NR_027481.1 CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG 0.718 4 4 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 2 4 --- --- --- --- OR4E2 26686 broad.mit.edu 37 14 22134124 22134124 + Frame_Shift_Del DEL A A - TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chr14:22134124delA ENST00000408935.1 + 1 828 c.828delA c.(826-828)acfs p.T276fs NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TCTTCTACACAGTGGTCACCC 0.473 17 23 --- --- --- --- ELF4 2000 broad.mit.edu 37 X 129201056 129201056 + Frame_Shift_Del DEL G G - TCGA-R8-A73M-01A-11D-A32B-08 TCGA-R8-A73M-10C-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8644f8a-beac-4a95-8b6a-e4e081917313 a243fe0c-19bb-49b3-8547-48cb29ace8e3 g.chrX:129201056delG ENST00000308167.5 - 9 2011 c.1632delC c.(1630-1632)tcfs p.S545fs ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 545 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 GAACATAGGAGGAGGACCTCA 0.617 T ERG AML 7 91 --- --- --- ---