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 FBN2 2201 broad.mit.edu 37 5 127693083 127693083 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:127693083T>C ENST00000508053.1 - 26 3533 c.2559A>G c.(2557-2559)atA>atG p.I853M FBN2_ENST00000262464.4_Missense_Mutation_p.I853M|FBN2_ENST00000508989.1_Missense_Mutation_p.I820M P35556 FBN2_HUMAN fibrillin 2 853 EGF-like 13; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACATTCATTTATATCTACAA 0.423000 29 7 0 0 0.007291 0 0 PARVA 55742 broad.mit.edu 37 11 12525871 12525871 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:12525871C>T ENST00000334956.8 + 6 1015 c.672C>T c.(670-672)gcC>gcT p.A224A PARVA_ENST00000550549.1_Silent_p.A184A|PARVA_ENST00000538608.1_Silent_p.A131A|PARVA_ENST00000539723.1_Silent_p.A184A NM_018222.4 NP_060692.2 Q9NVD7 PARVA_HUMAN parvin, alpha 184 cell adhesion|cell junction assembly|cilium morphogenesis actin cytoskeleton|cytosol|focal adhesion actin binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4) 11 Epithelial(150;0.00624) CTGTTCATGCCAAGAGCCTGG 0.458000 15 7 0 0 0.003163 0 0 ITGA7 3679 broad.mit.edu 37 12 56091544 56091544 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:56091544A>G ENST00000257880.7 - 10 1695 c.1476T>C c.(1474-1476)gaT>gaC p.D492D ITGA7_ENST00000555728.1_Silent_p.D492D|ITGA7_ENST00000257879.6_Silent_p.D448D|ITGA7_ENST00000394229.2_Silent_p.D448D|ITGA7_ENST00000553804.1_Silent_p.D452D|ITGA7_ENST00000394230.2_Silent_p.D452D|ITGA7_ENST00000452168.2_Silent_p.D355D|ITGA7_ENST00000347027.6_Silent_p.D448D Q13683 ITA7_HUMAN integrin, alpha 7 492 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCCCATCCATATCCAAGCTGC 0.607000 24 32 0 0 0.021523 0 0 SDE2 163859 broad.mit.edu 37 1 226175920 226175920 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:226175920C>T ENST00000272091.7 - 6 829 c.811G>A c.(811-813)Gta>Ata p.V271I NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) GTATTCACTACTCTCGCCCTC 0.502000 22 159 0 0 0.004656 0 0 KCNN1 3780 broad.mit.edu 37 19 18092569 18092569 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:18092569G>A ENST00000222249.9 + 5 869 c.550G>A c.(550-552)Gag>Aag p.E184K NM_002248.3 NP_002239.2 Q92952 KCNN1_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 8 CATGACCTGCGAGCGCGTGTT 0.662000 16 20 0 0 0.004007 0 0 AUTS2 26053 broad.mit.edu 37 7 69364285 69364285 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:69364285T>G ENST00000342771.4 + 2 644 c.323T>G c.(322-324)cTt>cGt p.L108R AUTS2_ENST00000406775.2_Missense_Mutation_p.L108R|AUTS2_ENST00000403018.2_Missense_Mutation_p.L108R NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 108 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GATGTAGCACTTAAGCCTCAG 0.443000 11 41 0 0 0.010729 0 0 PHF20 51230 broad.mit.edu 37 20 34487428 34487428 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:34487428G>A ENST00000374012.3 + 10 1548 c.1419G>A c.(1417-1419)atG>atA p.M473I PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) ACTATCACATGAAGTATTTCC 0.478000 11 29 0 0 0.013537 0 0 DCAF17 80067 broad.mit.edu 37 2 172305301 172305301 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:172305301A>G ENST00000375255.3 + 4 759 c.432A>G c.(430-432)atA>atG p.I144M DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.I144M NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 144 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 TTGAGAAAATATATCTTGCAC 0.333000 20 39 0 0 0.012319 0 0 TRPA1 8989 broad.mit.edu 37 8 72959440 72959440 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:72959440T>C ENST00000262209.4 - 16 2115 c.1908A>G c.(1906-1908)gtA>gtG p.V636V RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 636 integral to plasma membrane p.?(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AATCTAAAAGTACCTTTGAAA 0.313000 11 48 0 0 0.016723 0 0 AADAC 13 broad.mit.edu 37 3 151545957 151545957 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:151545957A>G ENST00000232892.7 + 5 1323 c.1197A>G c.(1195-1197)ctA>ctG p.L399L RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2) 19 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGGAAAATCTATAGTAAAACA 0.299000 24 12 0 0 0.014323 0 0 BSN 8927 broad.mit.edu 37 3 49694316 49694316 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:49694316G>A ENST00000296452.4 + 5 7441 c.7327G>A c.(7327-7329)Gaa>Aaa p.E2443K NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2443 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) ACTGCAGCGGGAACAGCTAGC 0.622000 8 5 0 0 0.003080 0 0 ACTL8 81569 broad.mit.edu 37 1 18152535 18152535 + Nonsense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:18152535C>T ENST00000375406.1 + 3 838 c.622C>T c.(622-624)Cag>Tag p.Q208* NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 208 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CGCCGTGACTCAGATGAACAA 0.562000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 17 0 0 0.009535 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698173 70698173 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:70698173T>C ENST00000338779.6 - 15 1925 c.1651A>G c.(1651-1653)Act>Gct p.T551A FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 551 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 GGCAGGCCAGTGGCCGTGGGC 0.746000 9 23 0 0 0.004482 0 0 ITPKC 80271 broad.mit.edu 37 19 41223370 41223370 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:41223370G>A ENST00000263370.2 + 1 363 c.330G>A c.(328-330)aaG>aaA p.K110K NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 110 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) AGAGGCCCAAGCAAAAGACGG 0.622000 18 43 0 0 0.004990 0 0 AGAP2 116986 broad.mit.edu 37 12 58121176 58121176 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:58121176C>T ENST00000257897.3 - 16 2064 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q AGAP2-AS1_ENST00000542466.2_Missense_Mutation_p.S134L|AGAP2_ENST00000547588.1_Missense_Mutation_p.R1016Q NM_014770.3 NP_055585.1 Q99490 AGAP2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 1016 axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 GGCACGGCCTCGCGTGTCGCT 0.667000 7 11 0 0 0.001984 0 0 DPM3 54344 broad.mit.edu 37 1 155112758 155112758 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:155112758G>C ENST00000368399.1 - 1 125 c.49C>G c.(49-51)Ctg>Gtg p.L17V DPM3_ENST00000341298.3_Intron|DPM3_ENST00000368400.4_Intron NM_018973.3 NP_061846.2 Q9P2X0 DPM3_HUMAN dolichyl-phosphate mannosyltransferase polypeptide 3 0 C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane protein binding endometrium(2) 2 all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193) ctgaggagcagaaaggaaaag 0.587000 70 9 0 0 0.014410 0 0 CAP1 10487 broad.mit.edu 37 1 40525754 40525754 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:40525754A>G ENST00000372797.3 + 3 689 c.128A>G c.(127-129)tAt>tGt p.Y43C CAP1_ENST00000372792.2_Missense_Mutation_p.Y43C|CAP1_ENST00000372798.1_Missense_Mutation_p.Y42C|CAP1_ENST00000372805.3_Missense_Mutation_p.Y43C|CAP1_ENST00000340450.3_Missense_Mutation_p.Y42C|CAP1_ENST00000372802.1_Missense_Mutation_p.Y42C NM_001105530.1|NM_006367.3 NP_001099000|NP_006358 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 43 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GCAGCTCCATATGTGCAGGCA 0.473000 22 26 0 0 0.016522 0 0 CCDC178 374864 broad.mit.edu 37 18 30903591 30903591 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:30903591C>T ENST00000383096.3 - 11 1068 c.886G>A c.(886-888)Gac>Aac p.D296N CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Missense_Mutation_p.D296N|CCDC178_ENST00000402325.1_Missense_Mutation_p.D296N|CCDC178_ENST00000583930.1_Missense_Mutation_p.D296N|CCDC178_ENST00000403303.1_Missense_Mutation_p.D296N|CCDC178_ENST00000579947.1_Missense_Mutation_p.D296N|CCDC178_ENST00000406524.2_Missense_Mutation_p.D296N coiled-coil domain containing 178 CTGTGTAGGTCCATTACCTAG 0.294000 4 2 0 0 0.009096 0 0 NIF3L1 60491 broad.mit.edu 37 2 201757014 201757014 + Silent SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:201757014T>A ENST00000409020.1 + 2 642 c.348T>A c.(346-348)gcT>gcA p.A116A NIF3L1_ENST00000409588.1_Silent_p.A116A|NIF3L1_ENST00000409357.1_Silent_p.A116A|NIF3L1_ENST00000416651.1_Silent_p.A116A|NIF3L1_ENST00000359683.4_Silent_p.A89A Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 116 positive regulation of transcription, DNA-dependent transcription factor binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2) 13 TGATCCGGGCTCTGGAGAACA 0.547000 30 53 0 0 0.009535 0 0 ABCA17P 650655 broad.mit.edu 37 16 2436192 2436192 + RNA SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:2436192C>T ENST00000469908.1 + 0 1447 NR_003574.1 CTCACGGAGCCGCTTCCTGAG 0.632000 23 29 0 0 0.012319 0 0 VPS13B 157680 broad.mit.edu 37 8 100523432 100523432 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:100523432C>T ENST00000358544.2 + 29 4511 c.4400C>T c.(4399-4401)tCa>tTa p.S1467L VPS13B_ENST00000357162.2_Missense_Mutation_p.S1442L|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1467 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGTTAACATCAAGAAATGAG 0.378000 142 22 0 0 0.014410 0 0 NAV1 89796 broad.mit.edu 37 1 201779122 201779122 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:201779122G>C ENST00000367296.4 + 23 4870 c.4450G>C c.(4450-4452)Gag>Cag p.E1484Q NAV1_ENST00000367295.1_Missense_Mutation_p.E1090Q|NAV1_ENST00000367302.1_Missense_Mutation_p.E1437Q|NAV1_ENST00000367297.4_Missense_Mutation_p.E1476Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.E1481Q|NAV1_ENST00000367300.3_Missense_Mutation_p.E1424Q NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1484 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 ACTAAGCACTGAGTCCATCCA 0.478000 25 43 0 0 0.021523 0 0 APTX 54840 broad.mit.edu 37 9 32974519 32974519 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:32974519G>A ENST00000379817.2 - 6 1007 c.811C>T c.(811-813)Cct>Tct p.P271S APTX_ENST00000468275.1_Missense_Mutation_p.P271S|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000476858.1_Missense_Mutation_p.P231S|APTX_ENST00000397172.3_Missense_Mutation_p.P213S|APTX_ENST00000463596.1_Missense_Mutation_p.P271S|APTX_ENST00000309615.3_Missense_Mutation_p.P285S|APTX_ENST00000379813.3_Missense_Mutation_p.P271S|APTX_ENST00000379825.2_Missense_Mutation_p.P285S|APTX_ENST00000379819.1_Missense_Mutation_p.P285S Q7Z2E3 APTX_HUMAN aprataxin 285 HIT. cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) TTAAGGCAAGGAGAATCAAAA 0.318000 Editing and processing nucleases 25 34 0 0 0.005443 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011260 23011260 + RNA SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:23011260C>T ENST00000390304.2 + 0 361 TACTGTTACTCTGCGGCTGAC 0.562000 16 21 0 0 0.004990 0 0 PTPMT1 114971 broad.mit.edu 37 11 47587500 47587500 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:47587500G>A ENST00000534775.1 + 1 491 c.326G>A c.(325-327)cGa>cAa p.R109Q PTPMT1_ENST00000326674.9_Missense_Mutation_p.E73K|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.E73K|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000426530.2_Missense_Mutation_p.R109Q Q8WUK0 PTPM1_HUMAN protein tyrosine phosphatase, mitochondrial 1 0 Tyrosine-protein phosphatase. inositol phosphate dephosphorylation mitochondrial inner membrane phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 6 CACCATGAACGAGGAGTACGA 0.677000 15 20 0 0 0.010504 0 0 ZNF721 170960 broad.mit.edu 37 4 436514 436514 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:436514C>G ENST00000338977.5 - 2 1754 c.1706G>C c.(1705-1707)gGa>gCa p.G569A ZNF721_ENST00000511833.2_Missense_Mutation_p.G581A|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 AGGTTTCTCTCCAGTATGAAT 0.398000 27 123 0 0 0.006320 0 0 ZNF202 7753 broad.mit.edu 37 11 123598256 123598256 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:123598256C>T ENST00000336139.4 - 7 1242 c.880G>A c.(880-882)Gag>Aag p.E294K ZNF202_ENST00000530393.1_Missense_Mutation_p.E294K|ZNF202_ENST00000529691.1_Missense_Mutation_p.E294K O95125 ZN202_HUMAN zinc finger protein 202 294 KRAB. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) ACCCAAGGCTCTTCCTCTCTA 0.483000 22 25 0 0 0.016522 0 0 VPS13B 157680 broad.mit.edu 37 8 100396448 100396448 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:100396448T>C ENST00000395996.1 + 20 2948 c.2837T>C c.(2836-2838)cTt>cCt p.L946P VPS13B_ENST00000357162.2_Missense_Mutation_p.L946P|VPS13B_ENST00000358544.2_Missense_Mutation_p.L946P Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 946 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GCTGTACTTCTTTGCAGTATA 0.353000 9 257 0 0 0.006214 0 0 PLXNB3 5365 broad.mit.edu 37 X 153043511 153043511 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:153043511C>T ENST00000538966.1 + 33 5710 c.5439C>T c.(5437-5439)ttC>ttT p.F1813F PLXNB3_ENST00000361971.5_Silent_p.F1790F|PLXNB3_ENST00000538776.1_Silent_p.F1443F|SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000485980.1_3'UTR NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1790 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGACCTTCATTGACTCCT 0.572000 29 6 0 0 0.009535 0 0 PSMD7 5713 broad.mit.edu 37 16 74330812 74330812 + Translation_Start_Site SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:74330812G>A ENST00000540379.1 + 0 95 PSMD7_ENST00000219313.4_De_novo_Start_InFrame|PSMD7_ENST00000568615.2_De_novo_Start_InFrame|PSMD7_ENST00000567958.1_De_novo_Start_InFrame P51665 PSD7_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1) 15 GGTGTGTCGCGATGCCGGAGC 0.647000 16 14 0 0 0.004990 0 0 KAT6A 7994 broad.mit.edu 37 8 41791525 41791525 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:41791525C>T ENST00000396930.3 - 18 4756 c.4213G>A c.(4213-4215)Gag>Aag p.E1405K KAT6A_ENST00000406337.1_Missense_Mutation_p.E1405K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1405K NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1405 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 TCGATTAACTCTTCCTTAGTG 0.498000 25 141 0 0 0.016522 0 0 TMEM132E 124842 broad.mit.edu 37 17 32964390 32964390 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:32964390C>T ENST00000321639.5 + 10 2422 c.2094C>T c.(2092-2094)acC>acT p.T698T NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 698 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) CAGAGCTAACCATCGCTGAGA 0.642000 7 47 0 0 0.003080 0 0 DNAH14 127602 broad.mit.edu 37 1 225152221 225152221 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:225152221A>G ENST00000430092.1 + 5 623 c.408A>G c.(406-408)ctA>ctG p.L136L DNAH14_ENST00000366849.1_Silent_p.L136L|DNAH14_ENST00000366848.1_Silent_p.L136L|DNAH14_ENST00000445597.2_Silent_p.L263L|DNAH14_ENST00000439375.2_Silent_p.L136L|DNAH14_ENST00000366850.3_Silent_p.L136L|DNAH14_ENST00000400952.3_Silent_p.L136L NM_001373.1 NP_001364.1 Q0VDD8 DYH14_HUMAN dynein, axonemal, heavy chain 14 263 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|microtubule motor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1) 27 TTATTAGGCTACGAGAAAAGC 0.338000 41 47 0 0 0.014410 0 0 BTBD1 53339 broad.mit.edu 37 15 83710670 83710670 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:83710670G>C ENST00000261721.4 - 4 874 c.672C>G c.(670-672)ctC>ctG p.L224L BTBD1_ENST00000379403.2_Silent_p.L224L|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA NM_001011885.1|NM_025238.3 NP_001011885.1|NP_079514.1 Q9H0C5 BTBD1_HUMAN BTB (POZ) domain containing 1 224 cytoplasmic mRNA processing body|protein complex protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 10 all cancers(203;0.000186) AAACTGCACAGAGTGTATCTA 0.368000 13 12 0 0 0.003163 0 0 TRANK1 9881 broad.mit.edu 37 3 36898029 36898029 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:36898029T>C ENST00000429976.2 - 12 3299 c.3052A>G c.(3052-3054)Atc>Gtc p.I1018V TRANK1_ENST00000428977.2_Missense_Mutation_p.I468V|TRANK1_ENST00000301807.6_Missense_Mutation_p.I468V NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1018 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TTGAGGTCGATCACCGCGTAC 0.537000 97 89 0 0 0.014410 0 0 FMR1 2332 broad.mit.edu 37 X 147014278 147014278 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:147014278A>G ENST00000218200.8 + 9 1105 c.876A>G c.(874-876)ttA>ttG p.L292L FMR1_ENST00000439526.2_Silent_p.L292L|FMR1_ENST00000370477.1_Silent_p.L292L|FMR1_ENST00000370475.4_Silent_p.L292L|FMR1_ENST00000334557.6_Silent_p.L292L|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370471.3_Silent_p.L292L|FMR1_ENST00000370470.1_Silent_p.L292L NM_001185076.1|NM_001185082.1 NP_001172005.1|NP_001172011.1 Q06787 FMR1_HUMAN fragile X mental retardation 1 292 KH 2. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) CAAGGAACTTAGTAGGTAAGT 0.328000 Fragile X syndrome 31 11 0 0 0.008361 0 0 SLC27A6 28965 broad.mit.edu 37 5 128324319 128324319 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:128324319C>G ENST00000262462.4 + 3 1722 c.712C>G c.(712-714)Cag>Gag p.Q238E SLC27A6_ENST00000506176.1_Missense_Mutation_p.Q238E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.Q238E Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 238 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGTGATTAGTCAGCTGCAGGT 0.378000 53 29 0 0 0.014410 0 0 NUP210 23225 broad.mit.edu 37 3 13363766 13363766 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:13363766C>T ENST00000254508.5 - 35 4924 c.4842G>A c.(4840-4842)caG>caA p.Q1614Q NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1614 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CCGGCTTGAACTGGGACTGGC 0.557000 153 99 0 0 0.014410 0 0 SAMD14 201191 broad.mit.edu 37 17 48190393 48190393 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:48190393G>A ENST00000330175.4 - 10 1435 c.1118C>T c.(1117-1119)tCt>tTt p.S373F SAMD14_ENST00000503131.1_Missense_Mutation_p.S401F NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 373 SAM. breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 CCGGTCATGAGAGTTGCTGAG 0.657000 6 33 0 0 0.001984 0 0 XRCC3 7517 broad.mit.edu 37 14 104174929 104174929 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:104174929G>A ENST00000553264.1 - 3 919 c.123C>T c.(121-123)ctC>ctT p.L41L XRCC3_ENST00000555055.1_Silent_p.L41L|XRCC3_ENST00000352127.7_Silent_p.L41L|XRCC3_ENST00000554913.1_Silent_p.L41L|XRCC3_ENST00000445556.1_Silent_p.L41L|XRCC3_ENST00000554974.1_Intron O43542 XRCC3_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 3 41 DNA recombination|DNA repair mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Melanoma(154;0.155)|all_epithelial(191;0.19) Epithelial(152;0.239) CGGGGCTGGAGAGGTTGGTCA 0.507000 Direct reversal of damage;Homologous recombination 22 8 0 0 0.014323 0 0 FAM208A 23272 broad.mit.edu 37 3 56659005 56659005 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:56659005G>C ENST00000431842.2 - 15 3782 c.2858C>G c.(2857-2859)aCg>aGg p.T953R FAM208A_ENST00000485156.1_Intron|FAM208A_ENST00000493960.2_Missense_Mutation_p.T1390R|FAM208A_ENST00000355628.5_Missense_Mutation_p.T1329R NM_015224.3 NP_056039.2 Q9UK61 CC063_HUMAN family with sequence similarity 208, member A 1390 NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1) 32 ATTCAGAAGCGTCAACAGACT 0.348000 6 60 0 0 0.003080 0 0 GPR112 139378 broad.mit.edu 37 X 135431715 135431715 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:135431715G>C ENST00000394143.1 + 6 6141 c.5850G>C c.(5848-5850)ggG>ggC p.G1950G GPR112_ENST00000394141.1_Silent_p.G1745G|GPR112_ENST00000412101.1_Silent_p.G1745G|GPR112_ENST00000287534.4_Silent_p.G1887G|GPR112_ENST00000370652.1_Silent_p.G1950G NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1950 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) CTAACCATGGGCTTTCTGAGA 0.413000 82 18 0 0 0.014410 0 0 ZNF99 7652 broad.mit.edu 37 19 22941314 22941314 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:22941314G>A ENST00000397104.3 - 5 1123 c.1124C>T c.(1123-1125)tCa>tTa p.S375L ZNF99_ENST00000596209.1_Missense_Mutation_p.S466L zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCTAAGGGCTGAAAAATTGCT 0.358000 8 27 0 0 0.003080 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8431175 8431175 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:8431175C>A ENST00000301455.2 + 3 690 c.519C>A c.(517-519)gaC>gaA p.D173E ANGPTL4_ENST00000541807.1_Missense_Mutation_p.D6E|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D173E NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 173 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 AGCCAGTTGACCCGGCTCACA 0.632000 18 32 1.33834e-09 1.51975e-09 0.007413 1 0 ZMYND10 51364 broad.mit.edu 37 3 50379288 50379288 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:50379288C>T ENST00000231749.3 - 10 2346 c.1074G>A c.(1072-1074)caG>caA p.Q358Q ZMYND10_ENST00000490675.1_5'UTR|ZMYND10_ENST00000360165.3_Silent_p.Q353Q|ZMYND10-AS1_ENST00000440013.1_RNA NM_015896.2 NP_056980.2 O75800 ZMY10_HUMAN zinc finger, MYND-type containing 10 358 cytoplasm protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TGAACACATGCTGGAGCTGGT 0.597000 TSP Lung(30;0.18) 36 32 0 0 0.017118 0 0 GLI3 2737 broad.mit.edu 37 7 42005045 42005045 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:42005045G>A ENST00000395925.3 - 15 3710 c.3626C>T c.(3625-3627)cCt>cTt p.P1209L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1209 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GCCCCCAGCAGGCCCGCTCCT 0.652000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 4 104 0 0 0.009096 0 0 LMNA 4000 broad.mit.edu 37 1 156100457 156100457 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:156100457G>A ENST00000368300.4 + 2 618 c.406G>A c.(406-408)Gac>Aac p.D136N LMNA_ENST00000368297.1_Missense_Mutation_p.D55N|LMNA_ENST00000473598.2_Missense_Mutation_p.D37N|LMNA_ENST00000347559.2_Missense_Mutation_p.D136N|LMNA_ENST00000368299.3_Missense_Mutation_p.D136N|LMNA_ENST00000448611.2_Missense_Mutation_p.D24N|LMNA_ENST00000392353.3_Missense_Mutation_p.D55N|LMNA_ENST00000361308.4_Missense_Mutation_p.D136N|LMNA_ENST00000368301.2_Missense_Mutation_p.D136N NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 136 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) TCGGCTGAAGGACCTGGAGGC 0.572000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome OREG0013866 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 28 0 0 0.014410 0 0 SULT1C4 27233 broad.mit.edu 37 2 108999925 108999925 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:108999925A>G ENST00000272452.2 + 5 900 c.574A>G c.(574-576)Aaa>Gaa p.K192E SULT1C4_ENST00000409309.3_Missense_Mutation_p.K117E NM_006588.2 NP_006579.2 O75897 ST1C4_HUMAN sulfotransferase family, cytosolic, 1C, member 4 192 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol sulfotransferase activity endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 12 AGCCAAAGACAAACACCGTAT 0.463000 48 28 0 0 0.014410 0 0 NOC2L 26155 broad.mit.edu 37 1 880925 880925 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:880925C>T ENST00000327044.6 - 17 2075 c.2026G>A c.(2026-2028)Gac>Aac p.D676N NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 676 Asp/Glu-rich (acidic). nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCGGTGTCGTCCTCTTCAGAG 0.577000 21 51 0 0 0.012319 0 0 CD63 967 broad.mit.edu 37 12 56120509 56120509 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:56120509G>A ENST00000549117.1 - 5 837 c.401C>T c.(400-402)tCg>tTg p.S134L CD63_ENST00000548898.1_Missense_Mutation_p.S41L|CD63_ENST00000548160.1_Missense_Mutation_p.S41L|CD63_ENST00000420846.3_Missense_Mutation_p.S134L|CD63_ENST00000546939.1_Missense_Mutation_p.S52L|CD63_ENST00000552067.1_Missense_Mutation_p.S41L|CD63_ENST00000550776.1_Missense_Mutation_p.S52L|CD63_ENST00000552692.1_Missense_Mutation_p.S134L|CD63_ENST00000552754.1_Missense_Mutation_p.S111L|CD63_ENST00000257857.4_Missense_Mutation_p.S134L NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 134 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 GTCCAGGATCGAAGCAGTGTG 0.522000 31 34 0 0 0.007291 0 0 BMP2K 55589 broad.mit.edu 37 4 79833000 79833000 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:79833000C>A ENST00000335016.5 + 16 3465 c.3299C>A c.(3298-3300)cCa>cAa p.P1100Q PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 1100 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ACTGTCCTGCCAGGGCGGCCA 0.522000 35 50 1.22384e-17 1.4262e-17 0.013726 1 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 41 0 0 0.014758 0 0 ABCA13 154664 broad.mit.edu 37 7 48308595 48308595 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:48308595C>T ENST00000435803.1 + 16 2048 c.2024C>T c.(2023-2025)cCt>cTt p.P675L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 675 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GAGGAATCTCCTTGTTTTGAA 0.289000 5 27 0 0 0.014758 0 0 PTCD1 26024 broad.mit.edu 37 7 99032712 99032712 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:99032712G>A ENST00000292478.4 - 2 404 c.154C>T c.(154-156)Cag>Tag p.Q52* ATP5J2-PTCD1_ENST00000437572.1_5'UTR|PTCD1_ENST00000555673.1_Nonsense_Mutation_p.Q101*|ATP5J2-PTCD1_ENST00000413834.1_Nonsense_Mutation_p.Q101* NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AGGGGCAGCTGAGAGGAGGAG 0.657000 20 18 0 0 0.007413 0 0 XYLB 9942 broad.mit.edu 37 3 38442474 38442474 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:38442474C>A ENST00000207870.3 + 18 1621 c.1531C>A c.(1531-1533)Cag>Aag p.Q511K XYLB_ENST00000542835.1_Missense_Mutation_p.Q374K|XYLB_ENST00000472721.1_3'UTR NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 511 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GGGAGCTTCTCAGGTGAGAGA 0.493000 37 54 6.70999e-13 7.69828e-13 0.019004 1 0 KMT2A 4297 broad.mit.edu 37 11 118342391 118342391 + Nonsense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:118342391C>T ENST00000534358.1 + 3 540 c.517C>T c.(517-519)Cga>Tga p.R173* KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R173*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R173* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AACTAGTCCTCGAAAACCTCG 0.383000 8 15 0 0 0.004482 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175130 125175130 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:125175130G>C ENST00000431078.1 + 4 856 c.492G>C c.(490-492)aaG>aaC p.K164N NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 164 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCAGTGGGAAGATTGGCATGA 0.498000 10 9 0 0 0.008291 0 0 MEI1 150365 broad.mit.edu 37 22 42172208 42172208 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:42172208C>G ENST00000401548.3 + 21 2687 c.2647C>G c.(2647-2649)Cga>Gga p.R883G MEI1_ENST00000540880.1_Missense_Mutation_p.R201G|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.R251G NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 883 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CGGTCTTATCCGAGGCCACTT 0.562000 41 63 0 0 0.008740 0 0 LRP1B 53353 broad.mit.edu 37 2 142888275 142888275 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:142888275T>C ENST00000389484.3 - 1 995 c.24A>G c.(22-24)ttA>ttG p.L8L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 8 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGAGAGTGAGTAAGGCGAGGA 0.662000 TSP Lung(27;0.18) 7 13 0 0 0.003080 0 0 DNAH7 56171 broad.mit.edu 37 2 196877531 196877531 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:196877531G>A ENST00000312428.6 - 10 1069 c.969C>T c.(967-969)gcC>gcT p.A323A DNAH7_ENST00000410072.1_Silent_p.A323A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 323 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GAGTCTCTTTGGCAGAGTCCA 0.323000 8 55 0 0 0.006214 0 0 TLE4 7091 broad.mit.edu 37 9 82267576 82267576 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:82267576A>G ENST00000376520.4 + 7 1287 c.459A>G c.(457-459)tcA>tcG p.S153S TLE4_ENST00000265284.6_Silent_p.S128S|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376537.4_Silent_p.S153S|TLE4_ENST00000376552.2_Silent_p.S153S|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376544.3_Silent_p.S153S NM_001282748.1 NP_001269677.1 O60756 BCE1_HUMAN transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) 33 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CACACCCTTCAGGGCTCCAGC 0.527000 4 157 0 0 0.014758 0 0 GARNL3 84253 broad.mit.edu 37 9 130147318 130147318 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:130147318C>T ENST00000373387.4 + 24 2634 c.2282C>T c.(2281-2283)cCg>cTg p.P761L GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.P739L|GARNL3_ENST00000314904.5_Missense_Mutation_p.P761L NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 761 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 TGTGCTTTCCCGTATCTCCTG 0.617000 24 65 0 0 0.021523 0 0 MUC6 4588 broad.mit.edu 37 11 1024858 1024858 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1024858T>G ENST00000421673.2 - 24 3261 c.3211A>C c.(3211-3213)Acc>Ccc p.T1071P NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1071 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGTGGCAGGTGGCAAAGGTC 0.687000 5 18 0 0 0.003080 0 0 THBD 7056 broad.mit.edu 37 20 23029241 23029241 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:23029241C>T ENST00000377103.2 - 1 1137 c.901G>A c.(901-903)Gac>Aac p.D301N NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 301 EGF-like 2. blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CCCGGCTGGTCGGGGTTGGGA 0.697000 13 17 0 0 0.013537 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24880173 24880173 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:24880173G>A ENST00000396432.2 - 24 4617 c.4131C>T c.(4129-4131)gtC>gtT p.V1377V ARHGAP21_ENST00000320481.6_Silent_p.V1164V NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1376 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CTCCTGGGGAGACTCCTGTCC 0.438000 75 84 0 0 0.014410 0 0 MBD6 114785 broad.mit.edu 37 12 57918588 57918588 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:57918588C>T ENST00000355673.3 + 4 555 c.199C>T c.(199-201)Cca>Tca p.P67S MBD6_ENST00000431731.2_Missense_Mutation_p.P67S NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 67 MBD. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCTGGAGTGTCCACTTAATGT 0.542000 21 52 0 0 0.016522 0 0 DLG4 1742 broad.mit.edu 37 17 7121570 7121570 + Nonsense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:7121570G>C ENST00000399510.2 - 3 1001 c.149C>G c.(148-150)tCa>tGa p.S50* ACADVL_ENST00000543245.2_Intron NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 244 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CTGACTCTCTGAGAGGGAAGC 0.552000 9 13 0 0 0.016723 0 0 MAPK9 5601 broad.mit.edu 37 5 179696343 179696343 + Missense_Mutation SNP G G T rs148710250 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:179696343G>T ENST00000452135.2 - 3 487 c.189C>A c.(187-189)aaC>aaA p.N63K MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.N63K|MAPK9_ENST00000347470.4_Missense_Mutation_p.N63K|MAPK9_ENST00000539014.1_Missense_Mutation_p.N63K|MAPK9_ENST00000425491.2_Missense_Mutation_p.N63K|MAPK9_ENST00000393360.3_Missense_Mutation_p.N63K|MAPK9_ENST00000343111.6_Missense_Mutation_p.N63K P45984 MK09_HUMAN mitogen-activated protein kinase 9 63 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATGAGTTTGGTTCTGAAAAG 0.348000 34 5 3.90053e-15 4.50998e-15 0.012213 1 0 PLD5 200150 broad.mit.edu 37 1 242383325 242383325 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:242383325C>A ENST00000536534.2 - 5 941 c.700G>T c.(700-702)Ggc>Tgc p.G234C PLD5_ENST00000442594.2_Missense_Mutation_p.G142C|PLD5_ENST00000427495.1_Missense_Mutation_p.G172C Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 PLD phosphodiesterase 1. integral to membrane catalytic activity p.G234C(1)|p.G142C(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CCGGCACTGCCGATATACACG 0.517000 15 25 4.7546e-09 5.37161e-09 0.004007 1 0 DZIP3 9666 broad.mit.edu 37 3 108343354 108343354 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:108343354G>A ENST00000361582.3 + 6 669 c.439G>A c.(439-441)Gaa>Aaa p.E147K DZIP3_ENST00000463306.1_Missense_Mutation_p.E147K NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 147 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 AGCACTCACTGAAAGAGGAAA 0.279000 12 33 0 0 0.013537 0 0 CALCRL 10203 broad.mit.edu 37 2 188245285 188245285 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:188245285T>C ENST00000409998.1 - 8 1098 c.317A>G c.(316-318)gAc>gGc p.D106G AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.D106G|CALCRL_ENST00000392370.3_Missense_Mutation_p.D106G Q16602 CALRL_HUMAN calcitonin receptor-like 106 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TCCATCTTGGTCACAGATCTT 0.328000 35 86 0 0 0.015359 0 0 LIN28A 79727 broad.mit.edu 37 1 26752761 26752761 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:26752761C>T ENST00000326279.6 + 4 556 c.442C>T c.(442-444)Cat>Tat p.H148Y LIN28A_ENST00000254231.4_Missense_Mutation_p.H148Y NM_024674.4 NP_078950.1 Q9H9Z2 LN28A_HUMAN lin-28 homolog A (C. elegans) 148 miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance cytoplasmic mRNA processing body|nucleolus|stress granule DNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2) 8 TCTAGATCATCATGCCAAGGA 0.527000 21 65 0 0 0.018920 0 0 MUC2 4583 broad.mit.edu 37 11 1083168 1083168 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1083168G>C ENST00000441003.2 + 16 2095 c.2068G>C c.(2068-2070)Gag>Cag p.E690Q MUC2_ENST00000359061.5_Missense_Mutation_p.E690Q NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 690 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) CCACTGTCTCGAGGGCTTTGC 0.662000 14 17 0 0 0.006122 0 0 FAM46B 115572 broad.mit.edu 37 1 27332436 27332436 + Nonstop_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:27332436C>G ENST00000289166.5 - 2 1442 c.1277G>C c.(1276-1278)tGa>tCa p.*426S NM_052943.3 NP_443175.2 Q96A09 FA46B_HUMAN family with sequence similarity 46, member B 0 breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419) GGGTCTGAGTCAGTTACAAGG 0.622000 81 54 0 0 0.014410 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 4 356 0 0 0.014758 0 0 ERBB2 2064 broad.mit.edu 37 17 37879903 37879903 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:37879903C>T ENST00000406381.2 + 20 2618 c.2108C>T c.(2107-2109)aCa>aTa p.T703I ERBB2_ENST00000541774.1_Missense_Mutation_p.T718I|ERBB2_ENST00000540147.1_Missense_Mutation_p.T703I|ERBB2_ENST00000445658.2_Missense_Mutation_p.T457I|ERBB2_ENST00000269571.5_Missense_Mutation_p.T733I|ERBB2_ENST00000584450.1_Missense_Mutation_p.T733I|ERBB2_ENST00000584601.1_Missense_Mutation_p.T703I NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 733 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.T733I(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GCTTTTGGCACAGTCTACAAG 0.637000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 103 7 0 0 0.014410 0 0 LIMS1 3987 broad.mit.edu 37 2 109292446 109292446 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:109292446C>G ENST00000393310.1 + 6 774 c.607C>G c.(607-609)Cgc>Ggc p.R203G LIMS1_ENST00000410093.1_Missense_Mutation_p.R207G|LIMS1_ENST00000338045.3_Missense_Mutation_p.R203G|LIMS1_ENST00000544547.1_Missense_Mutation_p.R215G|LIMS1_ENST00000409441.1_Missense_Mutation_p.R240G|LIMS1_ENST00000542845.1_Missense_Mutation_p.R265G|LIMS1_ENST00000332345.6_Missense_Mutation_p.R203G NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 203 LIM zinc-binding 4. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 CATCGAAGGGCGCGTGGTGAA 0.542000 43 26 0 0 0.007835 0 0 HIP1 3092 broad.mit.edu 37 7 75178225 75178225 + Silent SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:75178225A>C ENST00000336926.6 - 23 2396 c.2370T>G c.(2368-2370)acT>acG p.T790T HIP1_ENST00000434438.2_Silent_p.T790T NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 790 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TAGCAGCTGAAGTGGCCGCCA 0.567000 T PDGFRB CMML 62 134 0 0 0.014410 0 0 GTF2A1 2957 broad.mit.edu 37 14 81662522 81662522 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:81662522G>A ENST00000553612.1 - 6 945 c.542C>T c.(541-543)tCa>tTa p.S181L GTF2A1_ENST00000434192.2_Missense_Mutation_p.S142L NM_001278940.1|NM_015859.3 NP_001265869.1|NP_056943.1 P52655 TF2AA_HUMAN general transcription factor IIA, 1, 19/37kDa 181 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|transcription factor TFIIA complex DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 12 BRCA - Breast invasive adenocarcinoma(234;0.0287) TAGAACCACTGACTGCTGAGG 0.423000 55 21 0 0 0.014410 0 0 DUSP14 11072 broad.mit.edu 37 17 35872428 35872428 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:35872428G>A ENST00000487847.1 + 2 1032 c.54G>A c.(52-54)atG>atA p.M18I DUSP14_ENST00000394389.4_Missense_Mutation_p.M18I|DUSP14_ENST00000394386.1_Missense_Mutation_p.M18I O95147 DUS14_HUMAN dual specificity phosphatase 14 18 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) CCCCTCGGATGATTTCCGAGG 0.577000 51 31 0 0 0.014410 0 0 ZNF138 7697 broad.mit.edu 37 7 64292295 64292295 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:64292295T>C ENST00000359735.3 + 4 851 c.504T>C c.(502-504)tgT>tgC p.C168C ZNF138_ENST00000440155.2_Silent_p.C199C|ZNF138_ENST00000397136.2_Silent_p.C168C|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000437743.1_Silent_p.C193C|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000307355.7_Silent_p.C225C NM_001271637.1|NM_001271639.1 NP_001258566.1|NP_001258568.1 B4DP87 B4DP87_HUMAN zinc finger protein 138 199 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding kidney(1)|large_intestine(3)|lung(2)|stomach(1) 7 Lung NSC(55;0.0795)|all_lung(88;0.18) CCTACAAATGTGAAGTATGTG 0.358000 27 33 0 0 0.006320 0 0 KLHDC3 116138 broad.mit.edu 37 6 42985893 42985893 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:42985893T>G ENST00000326974.4 + 5 653 c.458T>G c.(457-459)tTt>tGt p.F153C KLHDC3_ENST00000332245.8_Missense_Mutation_p.F94C|KLHDC3_ENST00000244670.8_Missense_Mutation_p.F19C NM_057161.3 NP_476502.1 Q9BQ90 KLDC3_HUMAN kelch domain containing 3 153 reciprocal meiotic recombination cytoplasm|nuclear chromatin chromatin binding|protein binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCGGACTGTTTTTCCAATGAC 0.473000 62 38 0 0 0.014410 0 0 NEK10 152110 broad.mit.edu 37 3 27326126 27326126 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:27326126T>C ENST00000429845.2 - 23 2343 c.1981A>G c.(1981-1983)Att>Gtt p.I661V NEK10_ENST00000357467.2_Missense_Mutation_p.I58V|NEK10_ENST00000341435.5_Missense_Mutation_p.I661V Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 661 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCCAACATAATGTTGTTTGGT 0.338000 39 55 0 0 0.013114 0 0 TIMM17A 10440 broad.mit.edu 37 1 201932815 201932815 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:201932815G>A ENST00000367287.4 + 4 298 c.262G>A c.(262-264)Gat>Aat p.D88N TIMM17A_ENST00000482943.1_3'UTR NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) 88 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|lung(3)|stomach(1) 5 AGGAAAGGAAGATCCCTGGAA 0.418000 18 20 0 0 0.004990 0 0 CBLL1 79872 broad.mit.edu 37 7 107398668 107398668 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:107398668G>A ENST00000440859.3 + 6 988 c.521G>A c.(520-522)aGa>aAa p.R174K CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.R173K NM_001284291.1|NM_024814.2 NP_001271220.1|NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 GGGTGCAAGAGAACATATTTG 0.433000 15 52 0 0 0.004007 0 0 DNASE1L3 1776 broad.mit.edu 37 3 58178462 58178462 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:58178462G>A ENST00000318316.3 - 10 1354 c.870C>T c.(868-870)agC>agT p.S290S DNASE1L3_ENST00000394549.2_Silent_p.S290S|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000486455.1_Silent_p.S260S Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 290 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CAGATTTTTTGCTGTTGGTGA 0.423000 30 82 0 0 0.008361 0 0 TTN 7273 broad.mit.edu 37 2 179433786 179433786 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:179433786A>G ENST00000589042.1 - 326 77297 c.77073T>C c.(77071-77073)gaT>gaC p.D25691D TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.D16626D|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.D16751D|TTN_ENST00000342992.6_Silent_p.D23123D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.D24050D|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.D16818D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24050 Ig-like 125. 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) CCTTAATTGGATCAGCAGTCT 0.438000 34 79 0 0 0.013726 0 0 ZNF45 7596 broad.mit.edu 37 19 44418655 44418655 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:44418655C>G ENST00000269973.5 - 10 2023 c.933G>C c.(931-933)aaG>aaC p.K311N RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Missense_Mutation_p.K311N NM_003425.3 NP_003416.1 Q02386 ZNF45_HUMAN zinc finger protein 45 311 multicellular organismal development nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 17 AACTGAAGCTCTTCCCACACT 0.468000 16 47 0 0 0.003163 0 0 ARAP1 116985 broad.mit.edu 37 11 72420989 72420989 + Missense_Mutation SNP G G C rs77842696 byFrequency TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:72420989G>C ENST00000359373.5 - 11 2300 c.1449C>G c.(1447-1449)atC>atG p.I483M ARAP1_ENST00000393605.3_Missense_Mutation_p.I243M|ARAP1_ENST00000426523.1_Missense_Mutation_p.I238M|ARAP1_ENST00000393609.3_Missense_Mutation_p.I483M|ARAP1_ENST00000429686.1_Missense_Mutation_p.I238M|ARAP1_ENST00000455638.2_Missense_Mutation_p.I483M|ARAP1_ENST00000334211.8_Missense_Mutation_p.I238M Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 483 PH 2. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CGCTCATGTCGATGAAGGTGA 0.622000 34 64 0 0 0.012213 0 0 CYTIP 9595 broad.mit.edu 37 2 158272436 158272436 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:158272436G>A ENST00000264192.3 - 8 954 c.833C>T c.(832-834)aCg>aTg p.T278M CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M NM_004288.4 NP_004279.3 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 278 Ser-rich. T -> Q (in Ref. 5; AAA16575). regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 ATCTGTACTCGTCTGCCGACT 0.542000 20 50 0 0 0.007413 0 0 LMTK3 114783 broad.mit.edu 37 19 49005723 49005723 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:49005723A>G ENST00000600059.1 - 7 988 c.761T>C c.(760-762)cTg>cCg p.L254P LMTK3_ENST00000270238.3_Missense_Mutation_p.L283P lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CAGGTGCGCCAGCCCGCGGGC 0.711000 11 70 0 0 0.010729 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 66 0 0 0.004672 0 0 ZNF594 84622 broad.mit.edu 37 17 5087090 5087090 + Silent SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:5087090T>G ENST00000399604.4 - 1 602 c.462A>C c.(460-462)ccA>ccC p.P154P ZNF594_ENST00000575779.1_Silent_p.P154P Q96JF6 ZN594_HUMAN zinc finger protein 594 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TACACACATATGGCTTATTTC 0.303000 22 55 0 0 0.016522 0 0 USP38 84640 broad.mit.edu 37 4 144135055 144135055 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:144135055T>G ENST00000307017.4 + 9 2432 c.1926T>G c.(1924-1926)gaT>gaG p.D642E USP38_ENST00000510377.1_Missense_Mutation_p.D642E NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 642 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) GTATACAAGATGGTGGTCTAA 0.438000 56 124 0 0 0.014410 0 0 GPR64 10149 broad.mit.edu 37 X 19014182 19014182 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:19014182C>G ENST00000354791.3 - 26 2896 c.2655G>C c.(2653-2655)ctG>ctC p.L885L GPR64_ENST00000357544.3_Silent_p.L871L|GPR64_ENST00000340581.3_Silent_p.L782L|GPR64_ENST00000356606.4_Silent_p.L887L|GPR64_ENST00000379873.2_Silent_p.L901L|GPR64_ENST00000379876.1_Silent_p.L877L|GPR64_ENST00000357991.3_Silent_p.L898L|GPR64_ENST00000360279.4_Silent_p.L879L|GPR64_ENST00000379869.3_Silent_p.L901L|GPR64_ENST00000379878.3_Silent_p.L885L Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 901 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AATTTTCAGCCAGCCGTAACT 0.363000 50 16 0 0 0.014410 0 0 EFCAB14 9813 broad.mit.edu 37 1 47181986 47181986 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:47181986G>A ENST00000371933.3 - 2 1291 c.315C>T c.(313-315)ctC>ctT p.L105L EFCAB14_ENST00000544071.1_Silent_p.L105L NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 ATTTTTCCTTGAGGGCATCCA 0.443000 11 27 0 0 0.008291 0 0 KIF21B 23046 broad.mit.edu 37 1 200954055 200954055 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:200954055C>T ENST00000332129.2 - 27 4051 c.3735G>A c.(3733-3735)cgG>cgA p.R1245R KIF21B_ENST00000360529.5_Silent_p.R1245R|KIF21B_ENST00000461742.2_Silent_p.R1245R|KIF21B_ENST00000422435.2_Silent_p.R1245R NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 1245 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CATTGCGGGGCCGAGTGGGAG 0.627000 20 41 0 0 0.010504 0 0 BIRC6 57448 broad.mit.edu 37 2 32738107 32738107 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:32738107G>T ENST00000421745.2 + 54 10588 c.10454G>T c.(10453-10455)gGt>gTt p.G3485V NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3485 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GTAGAGTATGGTCTTCTGATG 0.453000 9 82 0.000274275 0.000299209 0.004482 1 0 DCK 1633 broad.mit.edu 37 4 71863897 71863897 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:71863897G>A ENST00000286648.5 + 2 602 c.205G>A c.(205-207)Gag>Aag p.E69K DCK_ENST00000504952.1_Missense_Mutation_p.E69K|DCK_ENST00000504730.1_Missense_Mutation_p.E69K|MOB1B_ENST00000511449.1_3'UTR NM_000788.2 NP_000779.1 P27707 DCK_HUMAN deoxycytidine kinase 69 purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process cytosol|nucleus ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1) 9 Lung(101;0.235) Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943) AGATGAATTTGAGGTATGAAA 0.318000 21 28 0 0 0.014323 0 0 SPTB 6710 broad.mit.edu 37 14 65233430 65233430 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:65233430G>A ENST00000542895.1 - 32 6455 c.6359C>T c.(6358-6360)tCt>tTt p.S2120F SPTB_ENST00000389720.3_Silent_p.V2103V|SPTB_ENST00000556626.1_Intron|SPTB_ENST00000389721.5_Missense_Mutation_p.S2120F|SPTB_ENST00000389722.3_Intron P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2120 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGACAAACGAGACCAGAGACT 0.632000 126 35 0 0 0.014410 0 0 TLR10 81793 broad.mit.edu 37 4 38776209 38776209 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:38776209T>G ENST00000308973.4 - 4 1608 c.1003A>C c.(1003-1005)Aat>Cat p.N335H TLR10_ENST00000506111.1_Missense_Mutation_p.N335H|TLR10_ENST00000508334.1_Missense_Mutation_p.N335H|TLR10_ENST00000361424.2_Missense_Mutation_p.N335H NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 335 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 ATTTGTGCATTTGATATTGTC 0.308000 22 20 0 0 0.012319 0 0 RELN 5649 broad.mit.edu 37 7 103214579 103214579 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:103214579T>C ENST00000424685.2 - 30 4630 c.4471A>G c.(4471-4473)Agg>Ggg p.R1491G RELN_ENST00000343529.5_Missense_Mutation_p.R1491G|RELN_ENST00000428762.1_Missense_Mutation_p.R1491G P78509 RELN_HUMAN reelin 1491 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGGGCTTCCCTTTTCCCAGGG 0.468000 3 119 0 0 0.009096 0 0 PTH2 113091 broad.mit.edu 37 19 49925885 49925885 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:49925885C>T ENST00000270631.1 - 2 244 c.143G>A c.(142-144)gGa>gAa p.G48E NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 48 neuropeptide signaling pathway extracellular region endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) CCAGGCCCGTCCTGGGGGGCG 0.756000 5 6 0 0 0.014758 0 0 AOAH 313 broad.mit.edu 37 7 36671706 36671706 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:36671706A>C ENST00000431169.1 - 6 757 c.457T>G c.(457-459)Tct>Gct p.S153A AOAH_ENST00000258749.5_Missense_Mutation_p.S153A|AOAH_ENST00000535891.1_Missense_Mutation_p.S121A NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 153 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CCACTTCTAGAATATTTCTGG 0.393000 6 12 0 0 0.001984 0 0 FAM169B 283777 broad.mit.edu 37 15 98995120 98995120 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:98995120C>T ENST00000558256.1 - 5 553 c.304G>A c.(304-306)Gag>Aag p.E102K FAM169B_ENST00000332908.4_Missense_Mutation_p.E102K NM_182562.2 NP_872368.2 Q8N8A8 F169B_HUMAN family with sequence similarity 169, member B 102 large_intestine(3)|lung(3)|urinary_tract(1) 7 GGGAATGTCTCACAGAAGTCC 0.572000 14 5 0 0 0.020292 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646672 80646672 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:80646672G>A ENST00000466387.1 + 13 1960 c.1236G>A c.(1234-1236)aaG>aaA p.K412K CTNNA2_ENST00000540488.1_Silent_p.K412K|CTNNA2_ENST00000496558.1_Silent_p.K412K|CTNNA2_ENST00000361291.4_Silent_p.K446K|CTNNA2_ENST00000402739.4_Silent_p.K412K|CTNNA2_ENST00000343114.3_Silent_p.K91K|CTNNA2_ENST00000541047.1_Silent_p.K412K P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 412 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.E413*(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GAAATGAAAAGGAAGTGAAAG 0.453000 24 64 0 0 0.018920 0 0 CDH16 1014 broad.mit.edu 37 16 66946442 66946442 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:66946442T>A ENST00000299752.4 - 11 1517 c.1324A>T c.(1324-1326)Atc>Ttc p.I442F CDH16_ENST00000565796.1_Missense_Mutation_p.I442F|CDH16_ENST00000568632.1_Missense_Mutation_p.I345F|CDH16_ENST00000570262.1_Missense_Mutation_p.I362F|CDH16_ENST00000394055.3_Missense_Mutation_p.I442F NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 442 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGATCATTGATATCTGTGACT 0.597000 12 47 0 0 0.016723 0 0 FAM45B 55855 broad.mit.edu 37 X 129629498 129629498 + RNA SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:129629498G>A ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA CAGTTAAAATGATGGAGAGTT 0.443000 84 15 0 0 0.014410 0 0 PHLDB3 653583 broad.mit.edu 37 19 44008260 44008260 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:44008260C>T ENST00000292140.5 - 2 371 c.11G>A c.(10-12)cGa>cAa p.R4Q PHLDB3_ENST00000599242.1_Missense_Mutation_p.R4Q NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 4 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) GGGGCTGCTTCGCGTCCCCAT 0.756000 14 6 0 0 0.020292 0 0 RGS3 5998 broad.mit.edu 37 9 116356425 116356425 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:116356425T>C ENST00000462403.1 + 1 660 c.226T>C c.(226-228)Ttc>Ctc p.F76L RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000350696.5_Intron NM_144489.2 NP_652760.2 P49796 RGS3_HUMAN regulator of G-protein signaling 3 485 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 CAGGCCAGGATTCCAGAGAGC 0.642000 32 109 0 0 0.010818 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6524508 6524508 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:6524508G>A ENST00000377782.3 - 5 536 c.469C>T c.(469-471)Cgc>Tgc p.R157C TNFRSF25_ENST00000348333.3_Missense_Mutation_p.R112C|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.R157C|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.R157C|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000351748.3_Intron NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 157 apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) GTATCTCTGCGGGAACCTGCA 0.607000 11 6 0 0 0.013537 0 0 HIP1 3092 broad.mit.edu 37 7 75178216 75178216 + Silent SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:75178216A>T ENST00000336926.6 - 23 2405 c.2379T>A c.(2377-2379)gcT>gcA p.A793A HIP1_ENST00000434438.2_Silent_p.A793A NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 793 I/LWEQ. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CAGTTTCAATAGCAGCTGAAG 0.552000 T PDGFRB CMML 59 139 0 0 0.014410 0 0 AMBRA1 55626 broad.mit.edu 37 11 46419037 46419037 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:46419037T>C ENST00000458649.2 - 18 4278 c.3860A>G c.(3859-3861)gAc>gGc p.D1287G AMBRA1_ENST00000314845.3_Missense_Mutation_p.D1197G|AMBRA1_ENST00000533727.1_Missense_Mutation_p.D1168G|AMBRA1_ENST00000528950.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000298834.3_Missense_Mutation_p.D1227G|AMBRA1_ENST00000426438.1_Missense_Mutation_p.D1258G|AMBRA1_ENST00000534300.1_Missense_Mutation_p.D1227G Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 1287 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GCCTGCAGCGTCCCCCCTGCT 0.602000 3 79 0 0 0.009096 0 0 SETD2 29072 broad.mit.edu 37 3 47162291 47162291 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:47162291C>T ENST00000409792.3 - 3 3877 c.3835G>A c.(3835-3837)Gga>Aga p.G1279R NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1279 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCACAAGCTCCATAGCTACTG 0.473000 """N, F, S, Mis""" clear cell renal carcinoma 24 50 0 0 0.004656 0 0 MUC6 4588 broad.mit.edu 37 11 1028662 1028662 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1028662G>A ENST00000421673.2 - 13 1625 c.1575C>T c.(1573-1575)ttC>ttT p.F525F NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 525 VWFD 2. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCTGACCTCTGAACTGGGGCC 0.627000 9 3 0 0 0.006214 0 0 OR11H4 390442 broad.mit.edu 37 14 20711591 20711591 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:20711591C>G ENST00000315409.2 + 1 694 c.641C>G c.(640-642)tCc>tGc p.S214C NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ACTCAGAGCTCCCTTGTCCTC 0.443000 21 159 0 0 0.008871 0 0 CCND3 896 broad.mit.edu 37 6 41908297 41908297 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:41908297C>G ENST00000372987.4 - 2 594 c.75G>C c.(73-75)gaG>gaC p.E25D CCND3_ENST00000510503.1_5'UTR|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000511642.1_5'UTR|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372991.4_Missense_Mutation_p.E75D|CCND3_ENST00000372988.4_5'UTR P30281 CCND3_HUMAN cyclin D3 75 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGAAGACTTCCTCCTCACAGC 0.647000 T IGH@ MM 37 38 0 0 0.005524 0 0 MYH3 4621 broad.mit.edu 37 17 10545784 10545784 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:10545784G>C ENST00000583535.1 - 16 1925 c.1838C>G c.(1837-1839)tCt>tGt p.S613C MYH3_ENST00000226209.7_Missense_Mutation_p.S613C NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 613 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTGTTGGAAGACTTCTGGTA 0.542000 48 22 0 0 0.014410 0 0 CDC25B 994 broad.mit.edu 37 20 3781635 3781635 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:3781635G>A ENST00000245960.5 + 7 1297 c.600G>A c.(598-600)aaG>aaA p.K200K CDC25B_ENST00000379598.5_Silent_p.K136K|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.K136K|CDC25B_ENST00000439880.2_Silent_p.K186K|CDC25B_ENST00000340833.4_Silent_p.K159K NM_004358.3|NM_021872.2|NM_021873.2 NP_004349.1|NP_068658.1|NP_068659.1 P30305 MPIP2_HUMAN cell division cycle 25B 200 cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 TTGTCTTCAAGATGCCATGGA 0.637000 13 24 0 0 0.013537 0 0 C4orf29 80167 broad.mit.edu 37 4 128930328 128930328 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:128930328T>A ENST00000388795.5 + 6 581 c.178T>A c.(178-180)Ttg>Atg p.L60M C4orf29_ENST00000398965.1_Missense_Mutation_p.L142M|C4orf29_ENST00000444616.1_Missense_Mutation_p.L142M Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 142 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GGCTTCTTTATTGTTAGAAAA 0.333000 7 11 0 0 0.004482 0 0 DST 667 broad.mit.edu 37 6 56458781 56458781 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:56458781A>T ENST00000370754.5 - 48 12312 c.12313T>A c.(12313-12315)Tta>Ata p.L4105I DST_ENST00000421834.2_Missense_Mutation_p.L1839I|DST_ENST00000361203.3_Missense_Mutation_p.L3925I|DST_ENST00000370769.4_Missense_Mutation_p.L3927I|DST_ENST00000244364.6_Missense_Mutation_p.L1513I|DST_ENST00000446842.2_Missense_Mutation_p.L3601I|DST_ENST00000312431.6_Missense_Mutation_p.L3925I|DST_ENST00000370788.2_Missense_Mutation_p.L1839I Q03001 DYST_HUMAN dystonin 3925 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AACTTTTCTAATTCTTCCTGC 0.423000 42 45 0 0 0.008740 0 0 GSX2 170825 broad.mit.edu 37 4 54967810 54967810 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:54967810G>T ENST00000326902.2 + 2 950 c.636G>T c.(634-636)acG>acT p.T212T GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR NM_133267.2 NP_573574.1 Q9BZM3 GSX2_HUMAN GS homeobox 2 212 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(2)|lung(2) 6 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) TCACTAGCACGCAACTCCTGG 0.572000 29 34 2.12542e-12 2.42592e-12 0.006320 1 0 KBTBD6 89890 broad.mit.edu 37 13 41706188 41706188 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:41706188C>T ENST00000379485.1 - 1 694 c.460G>A c.(460-462)Gaa>Aaa p.E154K KBTBD6_ENST00000499385.2_Missense_Mutation_p.E88K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 154 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CGCACATATTCCAGCTGTAGC 0.582000 17 23 0 0 0.008871 0 0 SUGT1P3 283507 broad.mit.edu 37 13 41495622 41495622 + RNA SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:41495622C>A ENST00000304932.4 - 0 201 NR_003365.2 CTAACGCCGCCTGGGGGTCCT 0.557000 OREG0022377 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 13 3.86212e-05 4.26562e-05 0.008291 1 0 ANGPTL4 51129 broad.mit.edu 37 19 8431173 8431173 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:8431173G>A ENST00000301455.2 + 3 688 c.517G>A c.(517-519)Gac>Aac p.D173N ANGPTL4_ENST00000541807.1_Missense_Mutation_p.D6N|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D173N NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 173 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 CCAGCCAGTTGACCCGGCTCA 0.637000 18 32 0 0 0.008871 0 0 ABHD3 171586 broad.mit.edu 37 18 19231568 19231568 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:19231568C>A ENST00000578270.1 - 8 1569 c.629G>T c.(628-630)gGa>gTa p.G210V ABHD3_ENST00000289119.2_Missense_Mutation_p.G405V|ABHD3_ENST00000580981.1_Missense_Mutation_p.G352V Q8WU67 ABHD3_HUMAN abhydrolase domain containing 3 405 integral to membrane carboxylesterase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2) 10 GAGTTCATGTCCATGCTCAAC 0.423000 58 46 7.41606e-26 8.68794e-26 0.014410 1 0 PIAS3 10401 broad.mit.edu 37 1 145580411 145580411 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:145580411C>G ENST00000369299.3 + 6 984 c.866C>G c.(865-867)tCt>tGt p.S289C PIAS3_ENST00000393045.2_Intron|PIAS3_ENST00000369298.1_Intron Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 0 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCATTTTCCTCTTTATGAGTC 0.522000 7 26 0 0 0.001984 0 0 SYCP2 10388 broad.mit.edu 37 20 58450426 58450426 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:58450426C>G ENST00000357552.3 - 34 3474 c.3249G>C c.(3247-3249)tgG>tgC p.W1083C SYCP2_ENST00000371001.2_Missense_Mutation_p.W1083C Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1083 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ATGAGTTTTTCCATTGTTTTG 0.368000 12 15 0 0 0.010729 0 0 CDHR1 92211 broad.mit.edu 37 10 85973933 85973933 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:85973933C>T ENST00000372117.3 + 17 2239 c.2136C>T c.(2134-2136)gtC>gtT p.V712V CDHR1_ENST00000440770.2_Silent_p.V416V|CDHR1_ENST00000332904.3_Intron NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 712 homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TGGCCACCGTCGTGGCCATCA 0.637000 22 55 0 0 0.012319 0 0 TMCC3 57458 broad.mit.edu 37 12 94965478 94965478 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:94965478C>T ENST00000261226.4 - 4 1298 c.1167G>A c.(1165-1167)aaG>aaA p.K389K TMCC3_ENST00000551457.1_Silent_p.K358K NM_020698.2 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 389 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 GGAGCTCCAGCTTAGAAATGC 0.547000 22 58 0 0 0.016522 0 0 ITPR1 3708 broad.mit.edu 37 3 4709127 4709127 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:4709127A>T ENST00000354582.6 + 18 2130 c.1780A>T c.(1780-1782)Act>Tct p.T594S ITPR1_ENST00000423119.2_Missense_Mutation_p.T594S|ITPR1_ENST00000357086.4_Missense_Mutation_p.T594S|ITPR1_ENST00000456211.2_Missense_Mutation_p.T579S|ITPR1_ENST00000443694.2_Missense_Mutation_p.T579S|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.T579S Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 594 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGCTGAAGACACTATCACTGC 0.458000 43 15 0 0 0.007835 0 0 NXPE3 91775 broad.mit.edu 37 3 101540311 101540311 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:101540311A>G ENST00000422132.1 + 5 1390 c.1193A>G c.(1192-1194)aAg>aGg p.K398R NXPE3_ENST00000477909.1_Missense_Mutation_p.K398R|NXPE3_ENST00000491511.2_Missense_Mutation_p.K398R|NXPE3_ENST00000273347.5_Missense_Mutation_p.K398R neurexophilin and PC-esterase domain family, member 3 GTGGACCAGAAGCACAACATC 0.468000 12 24 0 0 0.010729 0 0 GPI 2821 broad.mit.edu 37 19 34884959 34884959 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:34884959G>T ENST00000415930.3 + 12 1253 c.1083G>T c.(1081-1083)gcG>gcT p.A361A GPI_ENST00000356487.5_Silent_p.A350A|GPI_ENST00000586425.1_Silent_p.A350A NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 350 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) GCTTTGCTGCGTACTTCCAGC 0.582000 13 30 0.00185496 0.0020039 0.016723 1 0 MUC16 94025 broad.mit.edu 37 19 9076683 9076683 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:9076683G>T ENST00000397910.4 - 3 10966 c.10763C>A c.(10762-10764)gCa>gAa p.A3588E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3589 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAATCTGATGCAGCTGTGGA 0.493000 6 76 0.00116845 0.00126534 0.001168 1 0 AKAP6 9472 broad.mit.edu 37 14 33291834 33291834 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:33291834C>A ENST00000280979.4 + 13 4985 c.4815C>A c.(4813-4815)agC>agA p.S1605R AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1605 Ser-rich. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CCTATAAAAGCAATGAAGATC 0.428000 9 37 0.000274275 0.000299209 0.004482 1 0 TTN 7273 broad.mit.edu 37 2 179475984 179475984 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:179475984C>T ENST00000589042.1 - 270 51096 c.50872G>A c.(50872-50874)Gac>Aac p.D16958N TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D7893N|TTN_ENST00000359218.5_Missense_Mutation_p.D8018N|TTN_ENST00000342992.6_Missense_Mutation_p.D14390N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15317N|TTN_ENST00000342175.6_Missense_Mutation_p.D8085N|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15317 Fibronectin type-III 23. 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) GTCTCCAGGTCAATTGTTGGC 0.353000 14 14 0 0 0.020292 0 0 NLRC3 197358 broad.mit.edu 37 16 3613416 3613416 + RNA SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:3613416C>G ENST00000301749.7 - 0 1927 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCCAGCCTCCCGTCCTCTGCC 0.667000 3 0 0 0 0.004672 0 0 ARNT2 9915 broad.mit.edu 37 15 80845057 80845057 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:80845057A>G ENST00000533983.1 + 11 1337 c.998A>G c.(997-999)gAt>gGt p.D333G ARNT2_ENST00000527771.1_Missense_Mutation_p.D333G|ARNT2_ENST00000303329.4_Missense_Mutation_p.D344G Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 344 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CATAACTCCGATGGAATCATC 0.473000 46 28 0 0 0.013114 0 0 CSAD 51380 broad.mit.edu 37 12 53565213 53565213 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:53565213G>C ENST00000267085.4 - 8 778 c.545C>G c.(544-546)tCc>tGc p.S182C CSAD_ENST00000379846.1_Intron|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000542115.1_3'UTR|CSAD_ENST00000444623.1_Missense_Mutation_p.S155C|CSAD_ENST00000453446.2_Missense_Mutation_p.S155C NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 155 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) ATACATGTTGGAGATGGAGCC 0.597000 11 29 0 0 0.008291 0 0 MTMR6 9107 broad.mit.edu 37 13 25827950 25827950 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:25827950T>C ENST00000381801.5 - 11 2059 c.1298A>G c.(1297-1299)cAg>cGg p.Q433R MTMR6_ENST00000540661.1_Missense_Mutation_p.Q433R NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 433 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GTTTCCAAACTGGCATGAATG 0.408000 24 48 0 0 0.016522 0 0 GALE 2582 broad.mit.edu 37 1 24124627 24124627 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:24124627C>G ENST00000374497.3 - 5 422 c.331G>C c.(331-333)Ggg>Cgg p.G111R NM_000403.3|NM_001008216.1|NM_001127621.1 NP_000394.2|NP_001008217.1|NP_001121093.1 Q14376 GALE_HUMAN UDP-galactose-4-epimerase 111 galactose catabolic process cytosol coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) TGGATGGTCCCGGTCAGGTTA 0.592000 10 109 0 0 0.010729 0 0 MBD6 114785 broad.mit.edu 37 12 57918589 57918589 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:57918589C>T ENST00000355673.3 + 4 556 c.200C>T c.(199-201)cCa>cTa p.P67L MBD6_ENST00000431731.2_Missense_Mutation_p.P67L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 67 MBD. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 CTGGAGTGTCCACTTAATGTC 0.542000 21 53 0 0 0.016522 0 0 FAM73B 84895 broad.mit.edu 37 9 131802905 131802905 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:131802905T>C ENST00000277475.5 + 2 218 c.32T>C c.(31-33)aTg>aCg p.M11T FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000406926.2_Missense_Mutation_p.M11T|FAM73B_ENST00000358369.4_Missense_Mutation_p.M11T Q7L4E1 FA73B_HUMAN family with sequence similarity 73, member B 11 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1) 13 GGCACGTCTATGATCCAGGCC 0.597000 40 47 0 0 0.008740 0 0 B4GALNT3 283358 broad.mit.edu 37 12 645436 645436 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:645436A>G ENST00000266383.5 + 3 339 c.326A>G c.(325-327)aAc>aGc p.N109S NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 109 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TTGAAGTGGAACAAGCCTGTC 0.448000 14 84 0 0 0.003163 0 0 FGF13 2258 broad.mit.edu 37 X 137717743 137717743 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:137717743A>G ENST00000315930.6 - 4 1137 c.476T>C c.(475-477)aTa>aCa p.I159T FGF13_ENST00000541469.1_Missense_Mutation_p.I113T|FGF13_ENST00000305414.4_Missense_Mutation_p.I106T|FGF13_ENST00000441825.2_Missense_Mutation_p.I140T|FGF13_ENST00000370603.3_Missense_Mutation_p.I169T NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 159 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CTGACGGTATATCATTGATGA 0.398000 53 6 0 0 0.014410 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45518410 45518410 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:45518410A>T ENST00000291574.4 + 21 3516 c.3341A>T c.(3340-3342)tAt>tTt p.Y1114F NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 1114 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 AAGCTTATGTATGAAGGTAGG 0.512000 38 56 0 0 0.005524 0 0 CALHM2 51063 broad.mit.edu 37 10 105209283 105209283 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:105209283G>A ENST00000393235.1 - 3 1613 c.416C>T c.(415-417)tCc>tTc p.S139F CALHM2_ENST00000260743.5_Missense_Mutation_p.S139F|CALHM2_ENST00000369788.3_Missense_Mutation_p.S139F Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 139 integral to membrane NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1) 11 CGTGAGTGAGGAAGGGTCCAC 0.597000 23 49 0 0 0.016522 0 0 PRL 5617 broad.mit.edu 37 6 22297250 22297250 + Translation_Start_Site SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:22297250G>C ENST00000306482.1 - 0 480 RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) CACCAGAGAAGATCTGGAAGT 0.408000 16 29 0 0 0.004007 0 0 FCGR3A 2214 broad.mit.edu 37 1 161512834 161512834 + Missense_Mutation SNP A A G rs1042208 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:161512834A>G ENST00000367969.3 - 5 1024 c.841T>C c.(841-843)Ttt>Ctt p.F281L FCGR3A_ENST00000540048.1_Missense_Mutation_p.F245L|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Missense_Mutation_p.F280L|FCGR3A_ENST00000436743.1_Missense_Mutation_p.F245L NM_000569.6 NP_000560.5 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor (CD16a) 245 immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity p.F281L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTCCATTTAAATTTATGGTCC 0.443000 4 205 0 0 0.010729 0 0 REG1B 5968 broad.mit.edu 37 2 79312628 79312628 + Silent SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:79312628A>C ENST00000305089.3 - 5 503 c.423T>G c.(421-423)acT>acG p.T141T NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 141 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CTGAGCATGAAGTCAGGCTTG 0.547000 37 81 0 0 0.021022 0 0 HERC2 8924 broad.mit.edu 37 15 28460863 28460863 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:28460863C>T ENST00000261609.7 - 39 6222 c.6114G>A c.(6112-6114)caG>caA p.Q2038Q NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 2038 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CGCCGCATACCTGCGGCGTGA 0.627000 23 24 0 0 0.016522 0 0 GRM8 2918 broad.mit.edu 37 7 126086316 126086316 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:126086316C>T ENST00000339582.2 - 10 3349 c.2541G>A c.(2539-2541)caG>caA p.Q847Q GRM8_ENST00000444921.2_Silent_p.Q847Q|GRM8_ENST00000358373.3_Silent_p.Q847Q O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 847 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTTGAACATTCTGTTCTGGAT 0.423000 HNSCC(24;0.065) 20 37 0 0 0.010504 0 0 TRIM43 129868 broad.mit.edu 37 2 96259801 96259801 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:96259801G>C ENST00000272395.2 + 2 166 c.30G>C c.(28-30)caG>caC p.Q10H NM_001164464.1|NM_138800.1 NP_001157936.1|NP_620155.1 Q96BQ3 TRI43_HUMAN tripartite motif containing 43 10 intracellular zinc ion binding p.Q10H(2) breast(1)|large_intestine(3)|lung(7)|ovary(1) 12 ATGCCTTCCAGAAGGAACTCA 0.483000 108 99 0 0 0.014410 0 0 SEMA3D 223117 broad.mit.edu 37 7 84751131 84751131 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:84751131C>T ENST00000284136.6 - 1 120 c.77G>A c.(76-78)aGc>aAc p.S26N SEMA3D_ENST00000444867.1_Missense_Mutation_p.S26N NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 26 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CATGGTCATGCTTAGCATCAT 0.333000 12 24 0 0 0.006122 0 0 RIF1 55183 broad.mit.edu 37 2 152317679 152317679 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:152317679G>T ENST00000243326.5 + 26 3586 c.3103G>T c.(3103-3105)Gta>Tta p.V1035L RIF1_ENST00000430328.2_Missense_Mutation_p.V1035L|RIF1_ENST00000444746.2_Missense_Mutation_p.V1035L|RIF1_ENST00000453091.2_Missense_Mutation_p.V1035L|RIF1_ENST00000428287.2_Missense_Mutation_p.V1035L Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) GTCTTTAAAAGTAAAGGGTGA 0.318000 14 47 6.31663e-08 7.08228e-08 0.003163 1 0 SCFD2 152579 broad.mit.edu 37 4 54231440 54231440 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:54231440G>A ENST00000401642.3 - 1 802 c.669C>T c.(667-669)ctC>ctT p.L223L SCFD2_ENST00000388940.4_Silent_p.L223L NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 223 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACAGAGAACTGAGGCCTGACA 0.547000 9 31 0 0 0.004482 0 0 PRCC 5546 broad.mit.edu 37 1 156756616 156756616 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:156756616A>G ENST00000271526.4 + 3 1005 c.733A>G c.(733-735)Atc>Gtc p.I245V PRCC_ENST00000353233.3_Missense_Mutation_p.I245V|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 245 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCCTCTGCTATCAAGGCTGC 0.552000 T TFE3 papillary renal 9 23 0 0 0.010729 0 0 MED27 9442 broad.mit.edu 37 9 134955168 134955168 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:134955168G>A ENST00000292035.5 - 1 127 c.64C>T c.(64-66)Cag>Tag p.Q22* MED27_ENST00000357028.2_Nonsense_Mutation_p.Q22*|MED27_ENST00000474263.1_Nonsense_Mutation_p.Q22* NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 22 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) CGCAGCGCCTGGATGGCACTA 0.607000 17 12 0 0 0.004007 0 0 ANKRD36B 57730 broad.mit.edu 37 2 98206235 98206235 + RNA SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:98206235G>A ENST00000443455.1 - 0 92 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B CTCGCCTTCGGGGATCGCCGC 0.622000 6 17 0 0 0.001168 0 0 ACIN1 22985 broad.mit.edu 37 14 23559767 23559767 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:23559767G>A ENST00000262710.1 - 3 781 c.454C>T c.(454-456)Ctg>Ttg p.L152L ACIN1_ENST00000555053.1_Silent_p.L152L|ACIN1_ENST00000457657.1_Silent_p.L152L|ACIN1_ENST00000605057.1_Silent_p.L94L NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 152 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCACGTTCCAGACGCTGCCTA 0.438000 7 47 0 0 0.001984 0 0 RCC2 55920 broad.mit.edu 37 1 17738662 17738662 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:17738662C>T ENST00000375436.4 - 11 1529 c.1342G>A c.(1342-1344)Gag>Aag p.E448K RCC2_ENST00000375433.3_Missense_Mutation_p.E448K NM_018715.3 NP_061185.1 Q9P258 RCC2_HUMAN regulator of chromosome condensation 2 448 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) ATGGTGCTCTCATCGGCGGCC 0.622000 39 40 0 0 0.009718 0 0 ADD1 118 broad.mit.edu 37 4 2927796 2927796 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:2927796G>T ENST00000355842.3 + 16 2774 c.1911G>T c.(1909-1911)gcG>gcT p.A637A ADD1_ENST00000398129.1_Silent_p.A606A|ADD1_ENST00000503455.2_Silent_p.A637A|ADD1_ENST00000513328.2_Silent_p.A606A|ADD1_ENST00000264758.7_Silent_p.A637A|ADD1_ENST00000446856.1_Silent_p.A606A|ADD1_ENST00000398123.2_Silent_p.A637A|ADD1_ENST00000398125.1_Silent_p.A637A P35611 ADDA_HUMAN adducin 1 (alpha) 606 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCAGCCTGCGGTCCCCCACC 0.622000 10 45 6.40141e-05 7.05267e-05 0.010729 1 0 CCDC141 285025 broad.mit.edu 37 2 179742771 179742771 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:179742771C>T ENST00000420890.2 - 12 1936 c.1819G>A c.(1819-1821)Gag>Aag p.E607K CCDC141_ENST00000295723.5_Missense_Mutation_p.E32K|CCDC141_ENST00000409284.1_Missense_Mutation_p.E607K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 32 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CACTGCTTCTCAGCCGAGTCA 0.378000 26 35 0 0 0.018920 0 0 MUS81 80198 broad.mit.edu 37 11 65628568 65628568 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:65628568C>T ENST00000308110.4 + 2 609 c.260C>T c.(259-261)tCg>tTg p.S87L MUS81_ENST00000533035.1_Missense_Mutation_p.S12L|CFL1_ENST00000534769.1_Intron NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 87 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) CACCGAACATCGGGCGGTGAG 0.662000 Homologous recombination 35 38 0 0 0.005524 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80328602 80328602 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:80328602T>A ENST00000450142.2 - 1 376 c.110A>T c.(109-111)aAg>aTg p.K37M PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K37M|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.K37M|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K37M NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 37 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 ATCGTCGAACTTCACCTTGGT 0.637000 5 3 0 0 0.001168 0 0 FAM198B 51313 broad.mit.edu 37 4 159092463 159092463 + Missense_Mutation SNP C C T rs148186776 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:159092463C>T ENST00000296530.8 - 2 686 c.65G>A c.(64-66)cGg>cAg p.R22Q FAM198B_ENST00000585682.1_Missense_Mutation_p.R22Q|RP11-597D13.9_ENST00000503611.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.R22Q|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000592057.1_Missense_Mutation_p.R22Q NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 22 Golgi membrane|integral to membrane p.R22P(3)|p.R22L(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 CTTACGCACCCGCGGGACGCA 0.587000 12 39 0 0 0.003163 0 0 GUF1 60558 broad.mit.edu 37 4 44693709 44693709 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:44693709G>A ENST00000281543.5 + 13 1700 c.1506G>A c.(1504-1506)atG>atA p.M502I GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 502 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 AGAAGAATATGATATTTATTG 0.313000 26 43 0 0 0.021523 0 0 CHAD 1101 broad.mit.edu 37 17 48545626 48545626 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:48545626C>T ENST00000508540.1 - 1 701 c.549G>A c.(547-549)ttG>ttA p.L183L ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Silent_p.L183L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 183 regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCAGGGAGCTCAACGCGTTTT 0.622000 12 114 0 0 0.016723 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 6 16 0 0 0.003080 0 0 ABHD16A 7920 broad.mit.edu 37 6 31668761 31668761 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:31668761C>G ENST00000395952.3 - 4 463 c.301G>C c.(301-303)Ggg>Cgg p.G101R ABHD16A_ENST00000440843.2_Missense_Mutation_p.G68R|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000538874.1_Silent_p.L2L|ABHD16A_ENST00000375842.4_5'UTR NM_021160.2 NP_066983.1 O95870 ABHGA_HUMAN abhydrolase domain containing 16A 101 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 AGCAATGTCCCAGCATAGTGA 0.507000 11 60 0 0 0.013537 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040229 184040229 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:184040229C>T ENST00000342981.4 + 10 2013 c.1599C>T c.(1597-1599)gcC>gcT p.A533A EIF4G1_ENST00000435046.2_Silent_p.A337A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_Silent_p.A493A|EIF4G1_ENST00000424196.1_Silent_p.A540A|EIF4G1_ENST00000427845.1_Silent_p.A446A|EIF4G1_ENST00000411531.1_Silent_p.A493A|EIF4G1_ENST00000352767.3_Silent_p.A540A|EIF4G1_ENST00000441154.1_Silent_p.A369A|EIF4G1_ENST00000434061.2_Silent_p.A337A|EIF4G1_ENST00000392537.2_Silent_p.A446A|EIF4G1_ENST00000382330.3_Silent_p.A540A|EIF4G1_ENST00000350481.5_Silent_p.A369A|EIF4G1_ENST00000319274.6_Silent_p.A533A|EIF4G1_ENST00000346169.2_Silent_p.A533A NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 533 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTCTGGATGCCTTCAAGGAGG 0.438000 8 21 0 0 0.006214 0 0 ZDHHC7 55625 broad.mit.edu 37 16 85011581 85011581 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:85011581G>C ENST00000313732.4 - 6 920 c.568C>G c.(568-570)Ctg>Gtg p.L190V ZDHHC7_ENST00000569488.1_5'UTR|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.L227V NM_017740.2 NP_060210.2 Q9NXF8 ZDHC7_HUMAN zinc finger, DHHC-type containing 7 190 integral to membrane acyltransferase activity|protein binding|zinc ion binding large_intestine(6)|lung(4) 10 CAAAGGATCAGAGCATGGACT 0.428000 45 41 0 0 0.014410 0 0 TP53AIP1 63970 broad.mit.edu 37 11 128805599 128805599 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:128805599G>C ENST00000531399.1 - 4 471 c.262C>G c.(262-264)Cta>Gta p.L88V TP53AIP1_ENST00000530777.1_Intron|TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000602346.1_3'UTR NM_022112.2 NP_071395.2 Q9HCN2 TPIP1_HUMAN tumor protein p53 regulated apoptosis inducing protein 1 88 apoptosis mitochondrion large_intestine(1)|lung(1)|skin(1) 3 GAGAGACCTAGACCAAGGCCT 0.463000 3 5 0 0 0.004672 0 0 KRT2 3849 broad.mit.edu 37 12 53040646 53040646 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:53040646C>G ENST00000309680.3 - 7 1368 c.1347G>C c.(1345-1347)ctG>ctC p.L449L NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 449 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TGGCCTGCTGCAGGGCCTCCT 0.587000 10 78 0 0 0.008291 0 0 HSPG2 3339 broad.mit.edu 37 1 22165877 22165877 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:22165877G>A ENST00000374695.3 - 73 9955 c.9876C>T c.(9874-9876)atC>atT p.I3292I NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3292 Ig-like C2-type 18. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCACGTGCAGGATGATGGTGG 0.597000 32 24 0 0 0.015359 0 0 ZNF513 130557 broad.mit.edu 37 2 27603386 27603386 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:27603386C>T ENST00000323703.6 - 1 206 c.8G>A c.(7-9)cGa>cAa p.R3Q NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 3 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGCTTCCTTCGGGGCATCGT 0.711000 7 8 0 0 0.006214 0 0 COL6A3 1293 broad.mit.edu 37 2 238283323 238283323 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:238283323G>A ENST00000295550.4 - 8 3863 c.3411C>T c.(3409-3411)atC>atT p.I1137I COL6A3_ENST00000346358.4_Silent_p.I937I|COL6A3_ENST00000392003.2_Silent_p.I730I|COL6A3_ENST00000347401.3_Silent_p.I936I|COL6A3_ENST00000353578.4_Silent_p.I931I|COL6A3_ENST00000472056.1_Silent_p.I530I|COL6A3_ENST00000409809.1_Silent_p.I931I|COL6A3_ENST00000392004.3_Silent_p.I931I NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1137 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCGTGAGGACGATCAGCAGCT 0.637000 26 43 0 0 0.009535 0 0 CD163 9332 broad.mit.edu 37 12 7635263 7635263 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:7635263G>A ENST00000359156.4 - 14 3425 c.3223C>T c.(3223-3225)Cga>Tga p.R1075* CD163_ENST00000541972.1_Nonsense_Mutation_p.R1063*|CD163_ENST00000432237.2_Nonsense_Mutation_p.R1075*|CD163_ENST00000396620.3_Nonsense_Mutation_p.R1108* NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1075 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CTCTGTCTTCGCTTTTTAGTC 0.433000 61 72 0 0 0.014410 0 0 UGT1A9 54600 broad.mit.edu 37 2 234580786 234580786 + Nonsense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:234580786C>A ENST00000354728.4 + 1 288 c.206C>A c.(205-207)tCa>tAa p.S69* UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.S69*|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) CTGGGAAGATCACTGAATTGC 0.498000 14 91 1.36491e-13 1.57408e-13 0.016723 1 0 MEOX2 4223 broad.mit.edu 37 7 15725691 15725691 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:15725691C>T ENST00000262041.5 - 1 746 c.337G>A c.(337-339)Gac>Aac p.D113N NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 113 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CCTCCAGAGTCGGGCTGGAGG 0.692000 7 6 0 0 0.001984 0 0 TMCO4 255104 broad.mit.edu 37 1 20107204 20107204 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:20107204C>T ENST00000294543.6 - 4 289 c.48G>A c.(46-48)ctG>ctA p.L16L TMCO4_ENST00000375122.2_Silent_p.L16L|TMCO4_ENST00000375127.1_Silent_p.L16L NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 16 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GCTCAGCTACCAGAGGCTGCT 0.627000 19 18 0 0 0.010504 0 0 ATP8B3 148229 broad.mit.edu 37 19 1796870 1796870 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:1796870G>C ENST00000539485.1 - 16 1826 c.1593C>G c.(1591-1593)ccC>ccG p.P531P ATP8B3_ENST00000310127.6_Silent_p.P531P|ATP8B3_ENST00000525591.1_Silent_p.P484P O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 531 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGAGGTAGGGGTTCTCCT 0.716000 3 22 0 0 0.004672 0 0 RASAL2 9462 broad.mit.edu 37 1 178269155 178269155 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:178269155A>G ENST00000448150.3 + 3 1123 c.305A>G c.(304-306)cAg>cGg p.Q102R RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Missense_Mutation_p.Q120R NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 0 PH. 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 CAGGAGCAGCAGACAGATTCC 0.478000 OREG0014010 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 29 0 0 0.016522 0 0 FUZ 80199 broad.mit.edu 37 19 50311871 50311871 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:50311871C>T ENST00000313777.4 - 9 1081 c.918G>A c.(916-918)ctG>ctA p.L306L FUZ_ENST00000533418.1_Silent_p.L256L|FUZ_ENST00000445575.2_Silent_p.L306L|FUZ_ENST00000528094.1_Silent_p.L270L NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 306 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) GGCAGCGCTTCAGTTCCAGGT 0.657000 13 13 0 0 0.020292 0 0 FAM122C 159091 broad.mit.edu 37 X 133979245 133979245 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:133979245T>C ENST00000370784.4 + 4 663 c.257T>C c.(256-258)aTg>aCg p.M86T FAM122C_ENST00000445123.1_Start_Codon_SNP_p.M1T|FAM122C_ENST00000370785.3_Missense_Mutation_p.M86T NM_001170779.1 NP_001164250.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 86 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) GAAGAAGCCATGGATTTAATA 0.279000 109 27 0 0 0.014410 0 0 SPRED2 200734 broad.mit.edu 37 2 65543912 65543912 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:65543912G>A ENST00000356388.4 - 5 733 c.544C>T c.(544-546)Cac>Tac p.H182Y SPRED2_ENST00000443619.2_Missense_Mutation_p.H179Y|SPRED2_ENST00000474228.1_5'UTR NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 182 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 TCGTGGAGGTGGCCCAGGGTA 0.537000 9 25 0 0 0.004482 0 0 JOSD1 9929 broad.mit.edu 37 22 39095872 39095872 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:39095872G>T ENST00000216039.5 - 1 800 c.121C>A c.(121-123)Ctc>Atc p.L41I NM_014876.5 NP_055691.1 Q15040 JOS1_HUMAN Josephin domain containing 1 41 Josephin. peptidase activity large_intestine(1)|lung(1)|ovary(2)|pancreas(1) 5 Melanoma(58;0.04) ACGTTATTGAGGGCGTGGAGG 0.537000 5 195 0.000602214 0.000655351 0.014758 1 0 PRDM9 56979 broad.mit.edu 37 5 23526685 23526685 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:23526685A>C ENST00000296682.3 + 11 1670 c.1488A>C c.(1486-1488)gaA>gaC p.E496D NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 496 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TAATGGAAGAAGAGTCCAGAA 0.448000 HNSCC(3;0.000094) 6 35 0 0 0.001168 0 0 PHACTR4 65979 broad.mit.edu 37 1 28800272 28800272 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:28800272T>C ENST00000373839.3 + 7 1291 c.1030T>C c.(1030-1032)Tcc>Ccc p.S344P PHACTR4_ENST00000373836.3_Missense_Mutation_p.S354P|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACT 0.512000 4 301 0 0 0.014758 0 0 ABCC12 94160 broad.mit.edu 37 16 48130786 48130786 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:48130786G>A ENST00000311303.3 - 22 3411 c.3066C>T c.(3064-3066)ctC>ctT p.L1022L ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1022 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CAAACCACCTGAGAGCACAGT 0.463000 24 40 0 0 0.005443 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028181 170028181 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:170028181G>T ENST00000284637.9 - 11 2656 c.2315C>A c.(2314-2316)tCc>tAc p.S772Y NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 772 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CACAGGGCAGGAGCCTGCCCT 0.662000 7 21 2.17888e-05 2.42462e-05 0.006214 1 0 PITPNM1 9600 broad.mit.edu 37 11 67271650 67271650 + Translation_Start_Site SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:67271650A>G ENST00000356404.3 - 2 227 c.2T>C c.(1-3)aTg>aCg p.M1T PITPNM1_ENST00000534749.1_Start_Codon_SNP_p.M1T|PITPNM1_ENST00000436757.2_Start_Codon_SNP_p.M1T NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 1 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 CTTGATGAGCATCCTGAAGGC 0.706000 10 25 0 0 0.006214 0 0 CYP24A1 1591 broad.mit.edu 37 20 52774035 52774035 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:52774035C>T ENST00000216862.3 - 10 1719 c.1326G>A c.(1324-1326)caG>caA p.Q442Q CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Silent_p.Q300Q NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 442 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) TTTCCTTCTCCTGAAGCCAAC 0.428000 10 40 0 0 0.006214 0 0 ABCB6 10058 broad.mit.edu 37 2 220075494 220075494 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:220075494T>C ENST00000265316.3 - 16 2511 c.2195A>G c.(2194-2196)aAg>aGg p.K732R ABCB6_ENST00000439002.2_Missense_Mutation_p.K686R NM_005689.2 NP_005680.1 Q9NP58 ABCB6_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 6 732 ABC transporter. cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 34 Renal(207;0.0474) Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACGCGCTGCTTCTCCCCGCC 0.622000 8 28 0 0 0.008291 0 0 MAP3K15 389840 broad.mit.edu 37 X 19389508 19389508 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:19389508C>T ENST00000338883.4 - 23 3248 c.3249G>A c.(3247-3249)tcG>tcA p.S1083S MAP3K15_ENST00000359173.3_Silent_p.S518S|MAP3K15_ENST00000469203.2_Silent_p.S915S|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1083 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GACTGATGGACGAGCTGTCAA 0.522000 43 13 0 0 0.011902 0 0 SLC2A3 6515 broad.mit.edu 37 12 8083956 8083956 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:8083956C>A ENST00000075120.7 - 4 635 c.395G>T c.(394-396)gGa>gTa p.G132V NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 132 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity p.G132V(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) TGTGCAGAGTCCGCAGAAGAG 0.537000 27 70 2.12542e-12 2.42592e-12 0.006320 1 0 LRP4 4038 broad.mit.edu 37 11 46920516 46920516 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:46920516G>A ENST00000378623.1 - 6 857 c.615C>T c.(613-615)ctC>ctT p.L205L NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 205 LDL-receptor class A 5. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GGTAGATGTCGAGGATGCAGC 0.642000 20 10 0 0 0.008871 0 0 UBAP2L 9898 broad.mit.edu 37 1 154224128 154224128 + Splice_Site SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:154224128A>G ENST00000428931.1 + 14 1830 c.1663A>G c.(1663-1665)Agt>Ggt p.S555G UBAP2L_ENST00000361546.2_Splice_Site_p.S555G|UBAP2L_ENST00000271877.7_Splice_Site_p.S566G|UBAP2L_ENST00000343815.6_Splice_Site_p.S555G NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 555 binding of sperm to zona pellucida protein binding p.S555G(2)|p.S51G(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CAGCACGGCCAGGTAGAGGAA 0.493000 31 225 0 0 0.010818 0 0 CSMD2 114784 broad.mit.edu 37 1 34238233 34238233 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:34238233C>G ENST00000373381.4 - 13 1959 c.1783G>C c.(1783-1785)Gga>Cga p.G595R CSMD2_ENST00000338325.1_Missense_Mutation_p.G203R NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 555 CUB 4. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCCTTCTGTCCCACCAGCTCA 0.577000 5 101 0 0 0.001168 0 0 PDIA5 10954 broad.mit.edu 37 3 122865069 122865069 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:122865069C>T ENST00000316218.7 + 13 1200 c.1105C>T c.(1105-1107)Ctc>Ttc p.L369F PDIA5_ENST00000467157.1_3'UTR NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 369 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) AGTGCCTGTGCTCAGGACAAA 0.483000 12 75 0 0 0.013537 0 0 SLC9A7 84679 broad.mit.edu 37 X 46529104 46529104 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:46529104G>A ENST00000328306.4 - 5 756 c.731C>T c.(730-732)tCa>tTa p.S244L NM_001257291.1|NM_032591.2 NP_001244220.1|NP_115980.1 Q96T83 SL9A7_HUMAN solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 244 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 AAATTTATCTGAGAGCTGTCC 0.348000 15 5 0 0 0.020292 0 0 SNX19 399979 broad.mit.edu 37 11 130785628 130785628 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:130785628G>A ENST00000265909.4 - 1 776 c.207C>T c.(205-207)ctC>ctT p.L69L SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Silent_p.L69L|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000528555.1_Intron NM_014758.2 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 69 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding p.L69L(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CCACTCCAGCGAGGCTGGAGC 0.602000 9 42 0 0 0.004482 0 0 SYNE2 23224 broad.mit.edu 37 14 64457735 64457735 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:64457735A>G ENST00000358025.3 + 21 2778 c.2548A>G c.(2548-2550)Atg>Gtg p.M850V SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.M850V|SYNE2_ENST00000554584.1_Missense_Mutation_p.M850V NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 850 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CAGGCTGAAGATGGAAGAATC 0.413000 43 8 0 0 0.011902 0 0 VAV1 7409 broad.mit.edu 37 19 6836572 6836572 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:6836572G>A ENST00000304076.2 + 20 2001 c.1907G>A c.(1906-1908)tGg>tAg p.W636* VAV1_ENST00000602142.1_Nonsense_Mutation_p.W636*|VAV1_ENST00000596764.1_Nonsense_Mutation_p.W604*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.W539*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.W581* NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 636 SH3 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 GAACAGAACTGGTGGGAGGTA 0.567000 7 24 0 0 0.003080 0 0 ODF3L1 161753 broad.mit.edu 37 15 76017546 76017546 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:76017546G>A ENST00000332145.2 + 2 439 c.216G>A c.(214-216)cgG>cgA p.R72R NM_175881.3 NP_787077.1 Q8IXM7 OD3L1_HUMAN outer dense fiber of sperm tails 3-like 1 72 kidney(1)|lung(1) 2 TGCATAGCCGGCACTCAGAGA 0.592000 4 58 0 0 0.014758 0 0 F12 2161 broad.mit.edu 37 5 176830946 176830946 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:176830946G>A ENST00000253496.3 - 10 1212 c.1164C>T c.(1162-1164)gcC>gcT p.A388A NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 388 Peptidase S1. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTACAGCGCGGCGATGTAGG 0.716000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 6 0 0 0.001984 0 0 RNF219 79596 broad.mit.edu 37 13 79190511 79190511 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:79190511G>C ENST00000282003.6 - 6 1443 c.1385C>G c.(1384-1386)cCa>cGa p.P462R RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA NM_024546.3 NP_078822.3 Q5W0B1 RN219_HUMAN ring finger protein 219 462 Ser-rich. P -> T (in Ref. 1; CAB66586). zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1) 32 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.0414) TCCTGTCTTTGGGGAAGAAAA 0.333000 9 17 0 0 0.008291 0 0 SEMA5A 9037 broad.mit.edu 37 5 9063097 9063097 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:9063097C>T ENST00000382496.5 - 18 3085 c.2420G>A c.(2419-2421)cGg>cAg p.R807Q NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 807 TSP type-1 5. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AACACGCTTCCGGTTCCGAAT 0.592000 8 39 0 0 0.004482 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123151529 123151529 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:123151529G>A ENST00000349780.4 - 38 5846 c.5667C>T c.(5665-5667)agC>agT p.S1889S CDK5RAP2_ENST00000359309.3_Silent_p.S1848S|CDK5RAP2_ENST00000360822.3_Silent_p.S1857S|CDK5RAP2_ENST00000360190.4_Silent_p.S1810S|CDK5RAP2_ENST00000480467.1_5'UTR NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1889 Interaction with PCNT and AKAP9. brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGCCTGGTCTGCTGGGACTGC 0.473000 9 9 0 0 0.004482 0 0 DCAF6 55827 broad.mit.edu 37 1 167906233 167906233 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:167906233G>A ENST00000367840.3 + 1 178 c.84G>A c.(82-84)cgG>cgA p.R28R DCAF6_ENST00000432587.2_Silent_p.R28R|DCAF6_ENST00000312263.6_Silent_p.R28R|DCAF6_ENST00000470919.1_Intron|MPC2_ENST00000271373.4_5'UTR|DCAF6_ENST00000367843.3_Silent_p.R28R NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 28 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 CCCGGCTGCGGAGTCGATACC 0.711000 11 17 0 0 0.020292 0 0 FASTKD3 79072 broad.mit.edu 37 5 7861273 7861273 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:7861273G>C ENST00000264669.5 - 6 2009 c.1873C>G c.(1873-1875)Caa>Gaa p.Q625E MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_5'UTR NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 625 RAP. apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGAACAACTTGATAACCGAGT 0.348000 21 48 0 0 0.010504 0 0 GPLD1 2822 broad.mit.edu 37 6 24433445 24433445 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:24433445G>A ENST00000230036.1 - 24 2516 c.2406C>T c.(2404-2406)agC>agT p.S802S NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 802 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 TGATGAGGGAGCTCCCAAACC 0.453000 17 163 0 0 0.004990 0 0 CNIH3 149111 broad.mit.edu 37 1 224922305 224922305 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:224922305G>A ENST00000272133.3 + 5 1234 c.352G>A c.(352-354)Gac>Aac p.D118N NM_152495.1 NP_689708.1 Q8TBE1 CNIH3_HUMAN cornichon family AMPA receptor auxiliary protein 3 118 intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane large_intestine(5)|lung(4) 9 Breast(184;0.218) GBM - Glioblastoma multiforme(131;0.073) ACTAGCCTACGACCCACCGGT 0.517000 29 41 0 0 0.008361 0 0 WDFY1 57590 broad.mit.edu 37 2 224782693 224782693 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:224782693G>A ENST00000233055.4 - 2 274 c.172C>T c.(172-174)Caa>Taa p.Q58* NM_020830.3 NP_065881.1 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 58 cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2) 18 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) GGCCAGTATTGACCACTGTCT 0.358000 12 28 0 0 0.006122 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86554951 86554951 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:86554951C>A ENST00000450689.2 - 10 1477 c.1292G>T c.(1291-1293)gGa>gTa p.G431V KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G191V|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G431V|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G264V NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 431 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) AGGCTCCGTTCCTGCTGGACA 0.418000 16 48 2.32078e-09 2.62864e-09 0.003163 1 0 SHROOM2 357 broad.mit.edu 37 X 9900215 9900215 + Splice_Site SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:9900215A>G ENST00000380913.3 + 6 2982 c.2892A>G c.(2890-2892)agA>agG p.R964R SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 964 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CTTCCTCTAGACAAGCAGATG 0.502000 27 16 0 0 0.004656 0 0 SLC29A1 2030 broad.mit.edu 37 6 44201158 44201158 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:44201158G>C ENST00000393841.1 + 14 1755 c.1264G>C c.(1264-1266)Gtg>Ctg p.V422L SLC29A1_ENST00000371713.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V422L|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V422L|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V422L|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V422L|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V501L NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 422 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) GCTTAGGAAAGTGAAGCCAGC 0.597000 38 125 0 0 0.010771 0 0 MYO9B 4650 broad.mit.edu 37 19 17321180 17321180 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:17321180G>A ENST00000595618.1 + 37 5939 c.5787G>A c.(5785-5787)gaG>gaA p.E1929E MYO9B_ENST00000397274.2_Silent_p.E1929E|MYO9B_ENST00000594824.1_Silent_p.E1929E NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 1929 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 CTCCCTATGAGGGGGTCCTGG 0.627000 8 6 0 0 0.003080 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42410644 42410644 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:42410644G>A ENST00000599846.1 + 28 2820 c.2695G>A c.(2695-2697)Gaa>Aaa p.E899K ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E858K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E810K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E843K Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 843 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TCCGGCGGAGGAAGACAATGG 0.677000 22 38 0 0 0.018920 0 0 APBA2 321 broad.mit.edu 37 15 29393827 29393827 + Missense_Mutation SNP G G A rs142481200 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:29393827G>A ENST00000558402.1 + 11 1963 c.1364G>A c.(1363-1365)cGt>cAt p.R455H APBA2_ENST00000561069.1_Missense_Mutation_p.R455H|APBA2_ENST00000558330.1_Missense_Mutation_p.R443H|APBA2_ENST00000558259.1_Missense_Mutation_p.R455H|APBA2_ENST00000411764.1_Missense_Mutation_p.R443H Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 455 PID. nervous system development|protein transport protein binding p.R455H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CACGCCTTGCGTACCATCTCC 0.587000 8 15 0 0 0.004482 0 0 SCYL3 57147 broad.mit.edu 37 1 169845137 169845137 + Silent SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:169845137A>C ENST00000367771.6 - 4 661 c.447T>G c.(445-447)gtT>gtG p.V149V SCYL3_ENST00000367770.1_Silent_p.V149V|SCYL3_ENST00000367772.4_Silent_p.V149V|SCYL3_ENST00000470238.1_5'UTR NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGGCCTGAGAAACTTTACAAA 0.463000 3 41 0 0 0.009096 0 0 DOPEY2 9980 broad.mit.edu 37 21 37603050 37603050 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:37603050C>T ENST00000399151.3 + 14 2053 c.1968C>T c.(1966-1968)tcC>tcT p.S656S NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 656 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAAGCAAGTCCGAGGAGCCTG 0.542000 41 46 0 0 0.006999 0 0 EPHA2 1969 broad.mit.edu 37 1 16475491 16475491 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:16475491C>A ENST00000358432.5 - 3 359 c.205G>T c.(205-207)Gtg>Ttg p.V69L EPHA2_ENST00000461614.1_5'UTR NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 69 activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) ACGTTGCACACGGAGTACATG 0.537000 44 42 2.55665e-31 3.00305e-31 0.014410 1 0 ZNF594 84622 broad.mit.edu 37 17 5086957 5086957 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:5086957C>G ENST00000399604.4 - 1 735 c.595G>C c.(595-597)Gtg>Ctg p.V199L ZNF594_ENST00000575779.1_Missense_Mutation_p.V199L Q96JF6 ZN594_HUMAN zinc finger protein 594 199 V -> G (in dbSNP:rs3853648). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTATGTCTCACCAGATTGGAG 0.393000 38 87 0 0 0.006230 0 0 TICAM2 353376 broad.mit.edu 37 5 114916656 114916656 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:114916656G>C ENST00000408996.4 - 4 1191 c.805C>G c.(805-807)Cta>Gta p.L269V TICAM2_ENST00000427199.2_Missense_Mutation_p.L100V|TMED7-TICAM2_ENST00000333314.3_3'UTR|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.L269V NM_001164468.2|NM_001164469.2 NP_001157940.1|NP_001157941.1 toll-like receptor adaptor molecule 2 cervix(1)|kidney(1)|lung(2)|soft_tissue(1) 5 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05) TCATCTTGTAGCAGATTCTGG 0.418000 20 128 0 0 0.014323 0 0 CALD1 800 broad.mit.edu 37 7 134643018 134643018 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:134643018G>A ENST00000361388.2 + 11 1817 c.1351G>A c.(1351-1353)Gag>Aag p.E451K CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.E419K|CALD1_ENST00000393118.2_Missense_Mutation_p.E445K|CALD1_ENST00000422748.1_Missense_Mutation_p.E450K|CALD1_ENST00000361675.2_Missense_Mutation_p.E680K|CALD1_ENST00000495522.1_Missense_Mutation_p.E444K|CALD1_ENST00000543443.1_Missense_Mutation_p.E430K|CALD1_ENST00000361901.2_Missense_Mutation_p.E425K|CALD1_ENST00000417172.1_Missense_Mutation_p.E425K NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 680 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 CAGCAGACTGGAGCAGTATAC 0.388000 59 49 0 0 0.014410 0 0 PTGER4 5734 broad.mit.edu 37 5 40681893 40681893 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:40681893C>G ENST00000302472.3 + 2 1822 c.798C>G c.(796-798)gcC>gcG p.A266A NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 266 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TCGCGGGCGCCGAGATCCAGA 0.706000 6 125 0 0 0.001168 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35505212 35505212 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:35505212C>T ENST00000599564.1 + 11 1322 c.1251C>T c.(1249-1251)acC>acT p.T417T GRAMD1A_ENST00000411896.2_Silent_p.T323T|GRAMD1A_ENST00000504615.2_Silent_p.T96T|GRAMD1A_ENST00000317991.5_Silent_p.T330T Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 330 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GGCCCACCACCCTGGGCCCCT 0.637000 32 63 0 0 0.006999 0 0 DNAJC30 84277 broad.mit.edu 37 7 73097379 73097379 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:73097379G>A ENST00000395176.2 - 1 404 c.375C>T c.(373-375)gtC>gtT p.V125V WBSCR22_ENST00000464615.1_3'UTR NM_032317.2 NP_115693.2 Q96LL9 DJC30_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 30 125 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1) 4 TGGAGGGCCGGACGCCAGGTC 0.741000 9 14 0 0 0.004482 0 0 TP73 7161 broad.mit.edu 37 1 3624302 3624302 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:3624302C>T ENST00000378295.4 + 4 531 c.376C>T c.(376-378)Cac>Tac p.H126Y TP73_ENST00000603362.1_Missense_Mutation_p.H126Y|TP73_ENST00000378288.4_Missense_Mutation_p.H77Y|TP73_ENST00000357733.3_Missense_Mutation_p.H126Y|TP73_ENST00000378280.1_Missense_Mutation_p.H77Y|TP73_ENST00000604074.1_Missense_Mutation_p.H126Y|TP73_ENST00000378285.1_Missense_Mutation_p.H77Y|TP73_ENST00000354437.4_Missense_Mutation_p.H126Y|TP73_ENST00000604479.1_Missense_Mutation_p.H126Y|TP73_ENST00000346387.4_Missense_Mutation_p.H126Y|TP73_ENST00000378290.4_Missense_Mutation_p.H55Y NM_001204185.1|NM_005427.3 NP_001191114.1|NP_005418.1 O15350 P73_HUMAN tumor protein p73 126 cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) CGGACCCCACCACTTTGAGGT 0.667000 16 59 0 0 0.004990 0 0 ANO10 55129 broad.mit.edu 37 3 43408465 43408465 + Splice_Site SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:43408465T>G ENST00000292246.3 - 13 2086 c.1916A>C c.(1915-1917)cAa>cCa p.Q639P ANO10_ENST00000451430.2_Splice_Site_p.Q528P|ANO10_ENST00000396091.3_Splice_Site_p.Q573P|ANO10_ENST00000350459.4_Splice_Site_p.Q449P|ANO10_ENST00000414522.2_3'UTR NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 639 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 GAGCTTCATTTGCTGTTAAGA 0.577000 4 13 0 0 0.014758 0 0 DISP2 85455 broad.mit.edu 37 15 40660107 40660107 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:40660107C>T ENST00000267889.3 + 8 1881 c.1794C>T c.(1792-1794)ctC>ctT p.L598L NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 598 SSD. smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTCCGGCCTCACCACGAGCG 0.706000 6 4 0 0 0.001168 0 0 SOX5 6660 broad.mit.edu 37 12 23999076 23999076 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:23999076T>A ENST00000546136.1 - 2 285 c.283A>T c.(283-285)Acc>Tcc p.T95S SOX5_ENST00000545921.1_Missense_Mutation_p.T98S|SOX5_ENST00000541536.1_Missense_Mutation_p.T95S|SOX5_ENST00000451604.2_Missense_Mutation_p.T108S|SOX5_ENST00000541847.1_Missense_Mutation_p.T98S|SOX5_ENST00000381381.2_Missense_Mutation_p.T95S|SOX5_ENST00000441133.2_Missense_Mutation_p.T73S|SOX5_ENST00000309359.1_Missense_Mutation_p.T95S|SOX5_ENST00000537393.1_Missense_Mutation_p.T73S P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 108 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 TGAGGTGAGGTAGATGAGTTG 0.468000 22 59 0 0 0.004656 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145474162 145474162 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:145474162G>T ENST00000323397.4 + 4 2127 c.834G>T c.(832-834)ctG>ctT p.L278L NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 278 Pro-rich. endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCAATGGCCTGACCCTGACCG 0.652000 22 41 7.41877e-09 8.33908e-09 0.012319 1 0 TMEM154 201799 broad.mit.edu 37 4 153573937 153573937 + Silent SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:153573937C>A ENST00000304385.3 - 2 438 c.207G>T c.(205-207)ccG>ccT p.P69P TMEM154_ENST00000504064.1_Silent_p.P69P NM_152680.2 NP_689893.1 Q6P9G4 TM154_HUMAN transmembrane protein 154 69 integral to membrane kidney(2)|large_intestine(1) 3 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GATTTTCATCCGGAGCAAAGT 0.333000 10 34 7.03913e-09 7.93242e-09 0.013537 1 0 PLXNB1 5364 broad.mit.edu 37 3 48463746 48463746 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:48463746C>T ENST00000358536.4 - 5 1682 c.1413G>A c.(1411-1413)caG>caA p.Q471Q PLXNB1_ENST00000296440.6_Silent_p.Q471Q|PLXNB1_ENST00000358459.4_Silent_p.Q471Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.Q471Q NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 471 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCACTGTGCTCTGGGTCATGA 0.597000 5 17 0 0 0.001168 0 0 MALT1 10892 broad.mit.edu 37 18 56348424 56348424 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:56348424T>C ENST00000348428.3 + 2 490 c.232T>C c.(232-234)Tct>Cct p.S78P RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.S78P NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 78 Death. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 GGAGCAGTGTTCTCTTAAGGT 0.463000 T BIRC3 MALT 36 21 0 0 0.010771 0 0 RREB1 6239 broad.mit.edu 37 6 7211055 7211055 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:7211055G>A ENST00000379938.2 + 7 981 c.444G>A c.(442-444)gaG>gaA p.E148E RREB1_ENST00000349384.6_Silent_p.E148E|RREB1_ENST00000379933.3_Silent_p.E148E|RREB1_ENST00000334984.6_Silent_p.E148E NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 148 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) AGATCCATGAGAAGGACCCTA 0.423000 30 70 0 0 0.006320 0 0 OR2L3 391192 broad.mit.edu 37 1 248224484 248224484 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:248224484T>C ENST00000359959.3 + 1 501 c.501T>C c.(499-501)taT>taC p.Y167Y OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ATATTCCTTATTGCCAATCCA 0.463000 9 61 0 0 0.004990 0 0 YTHDF2 51441 broad.mit.edu 37 1 29095440 29095440 + Splice_Site SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:29095440G>A ENST00000373812.3 + 5 2078 c.e5-1 YTHDF2_ENST00000541996.1_Splice_Site|YTHDF2_ENST00000478283.1_Splice_Site|YTHDF2_ENST00000542507.1_Splice_Site NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TACCTCTGTAGGAACGTCAAG 0.328000 5 20 0 0 0.001168 0 0 KDM6A 7403 broad.mit.edu 37 X 44922802 44922802 + Nonsense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:44922802C>T ENST00000377967.4 + 16 1704 c.1663C>T c.(1663-1665)Cag>Tag p.Q555* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 555 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2)|p.Q555*(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TAGCGTCTCTCAGCCTGGAGT 0.567000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 17 6 0 0 0.004007 0 0 ZNF571 51276 broad.mit.edu 37 19 38055989 38055989 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:38055989A>G ENST00000328550.2 - 4 1440 c.1341T>C c.(1339-1341)ttT>ttC p.F447F ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000451802.2_Silent_p.F447F|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000593133.1_Silent_p.F447F|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Silent_p.F447F|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCTTACATTCAAAGGGTTTCT 0.388000 6 203 0 0 0.001984 0 0 LCMT2 9836 broad.mit.edu 37 15 43622469 43622469 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:43622469C>G ENST00000305641.5 - 1 334 c.219G>C c.(217-219)caG>caC p.Q73H LCMT2_ENST00000544735.1_Intron|LCMT2_ENST00000567039.1_Intron NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 73 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GCGCGCCAATCTGCTCCAAAA 0.682000 19 11 0 0 0.008871 0 0 CRYBG3 131544 broad.mit.edu 37 3 97661173 97661173 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:97661173G>A ENST00000182096.4 + 18 2930 c.2866G>A c.(2866-2868)Gga>Aga p.G956R CRYBG3_ENST00000389622.2_Missense_Mutation_p.G163R|CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 GGACACACCTGGAGCTAAAGT 0.413000 20 48 0 0 0.008871 0 0 F12 2161 broad.mit.edu 37 5 176831565 176831565 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:176831565G>A ENST00000253496.3 - 8 783 c.735C>T c.(733-735)gcC>gcT p.A245A NM_000505.3 NP_000496.2 P00748 FA12_HUMAN coagulation factor XII (Hageman factor) 245 Kringle. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCGGTAGGTGGCCTCCGAGG 0.726000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 4 0 0 0.006214 0 0 AXIN2 8313 broad.mit.edu 37 17 63533517 63533517 + Missense_Mutation SNP C C T rs145717795 byFrequency TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:63533517C>T ENST00000307078.5 - 6 1950 c.1637G>A c.(1636-1638)gGc>gAc p.G546D AXIN2_ENST00000375702.5_Missense_Mutation_p.G546D NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 546 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 ATACTCGCTGCCCCCAGGGCA 0.612000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 10 110 0 0 0.006214 0 0 SFN 2810 broad.mit.edu 37 1 27189796 27189796 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:27189796G>C ENST00000339276.4 + 1 164 c.93G>C c.(91-93)gaG>gaC p.E31D NM_006142.3 NP_006133.1 P31947 1433S_HUMAN stratifin 31 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 9 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) GCGCCGTGGAGAAGGGCGAGG 0.607000 13 114 0 0 0.013537 0 0 ISL1 3670 broad.mit.edu 37 5 50687238 50687238 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:50687238T>C ENST00000230658.7 + 5 1481 c.896T>C c.(895-897)tTg>tCg p.L299S ISL1_ENST00000511384.1_Missense_Mutation_p.L276S|ISL1_ENST00000505475.2_3'UTR NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 299 Gln-rich. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GACTTCGCCTTGCAGAGTGAC 0.517000 36 80 0 0 0.009718 0 0 YIF1B 90522 broad.mit.edu 37 19 38800271 38800271 + Translation_Start_Site SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:38800271C>A ENST00000392124.3 - 0 292 YIF1B_ENST00000592694.1_De_novo_Start_InFrame|YIF1B_ENST00000591755.1_Missense_Mutation_p.R21M|YIF1B_ENST00000337679.8_Missense_Mutation_p.R21M|YIF1B_ENST00000591784.1_De_novo_Start_InFrame|YIF1B_ENST00000329420.8_Missense_Mutation_p.R9M|YIF1B_ENST00000592246.1_De_novo_Start_InFrame|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000339413.6_Missense_Mutation_p.R24M NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CACAGGGATCCTCCGCTTCGA 0.632000 5 82 0.000157383 0.000172539 0.003080 1 0 PRDM2 7799 broad.mit.edu 37 1 14106203 14106203 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:14106203A>G ENST00000235372.7 + 8 2769 c.1913A>G c.(1912-1914)aAg>aGg p.K638R PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K638R|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K437R|PRDM2_ENST00000343137.4_Missense_Mutation_p.K437R NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 638 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GAGGCCAAGAAGCGGAGAACT 0.473000 7 29 0 0 0.001984 0 0 ASAP3 55616 broad.mit.edu 37 1 23782407 23782407 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:23782407G>A ENST00000336689.3 - 3 359 c.315C>T c.(313-315)ttC>ttT p.F105F ASAP3_ENST00000437606.2_Silent_p.F105F NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 105 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CCTCGCGGGTGAACACGGCCA 0.557000 93 46 0 0 0.014410 0 0 IGKV1D-17 28900 broad.mit.edu 37 2 90121868 90121868 + RNA SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:90121868C>T ENST00000483379.1 + 0 267 ATGACCCAGTCTCCATCTGCC 0.443000 122 127 0 0 0.014410 0 0 VCAN 1462 broad.mit.edu 37 5 82817219 82817219 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:82817219C>G ENST00000265077.3 + 7 3659 c.3094C>G c.(3094-3096)Cag>Gag p.Q1032E VCAN_ENST00000512590.2_Missense_Mutation_p.Q984E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.Q1032E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1032 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GGGAACAACTCAGGAAGAATT 0.453000 2 16 0 0 0.004672 0 0 FUZ 80199 broad.mit.edu 37 19 50312751 50312751 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:50312751C>T ENST00000313777.4 - 6 737 c.574G>A c.(574-576)Gag>Aag p.E192K FUZ_ENST00000533418.1_Missense_Mutation_p.E142K|FUZ_ENST00000445575.2_Missense_Mutation_p.E192K|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.E156K NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 192 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CACCAACCCTCTGTTGCTGCC 0.721000 4 11 0 0 0.009096 0 0 DPYS 1807 broad.mit.edu 37 8 105405182 105405182 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:105405182A>C ENST00000351513.2 - 8 1405 c.1273T>G c.(1273-1275)Ttc>Gtc p.F425V DPYS_ENST00000521601.1_Intron NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 425 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAAATGTTGAAGTTAACAGCC 0.423000 9 56 0 0 0.006214 0 0 TLR10 81793 broad.mit.edu 37 4 38776079 38776079 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:38776079A>T ENST00000308973.4 - 4 1738 c.1133T>A c.(1132-1134)aTt>aAt p.I378N TLR10_ENST00000506111.1_Missense_Mutation_p.I378N|TLR10_ENST00000508334.1_Missense_Mutation_p.I378N|TLR10_ENST00000361424.2_Missense_Mutation_p.I378N NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 378 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GCCATTCAAAATGAGAGTTTT 0.328000 24 37 0 0 0.016522 0 0 CMIP 80790 broad.mit.edu 37 16 81712175 81712175 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:81712175G>C ENST00000537098.3 + 10 1402 c.1330G>C c.(1330-1332)Gag>Cag p.E444Q CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E291Q|CMIP_ENST00000539778.2_Missense_Mutation_p.E350Q NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 410 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 CATGAGCATCGAGCTGGGCCC 0.711000 8 9 0 0 0.008291 0 0 LOC220729 220729 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 46 0 0 0.001984 0 0 SDHA 6389 broad.mit.edu 37 5 235398 235398 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:235398G>C ENST00000264932.6 + 9 1319 c.1204G>C c.(1204-1206)Gtc>Ctc p.V402L SDHA_ENST00000510361.1_Missense_Mutation_p.V354L|SDHA_ENST00000504309.1_Missense_Mutation_p.V402L NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 402 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) GCCGATCCCTGTCCTCCCCAC 0.617000 Familial Paragangliomas 18 60 0 0 0.012319 0 0 CBX4 8535 broad.mit.edu 37 17 77808682 77808682 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:77808682G>C ENST00000269397.4 - 5 936 c.759C>G c.(757-759)gtC>gtG p.V253V NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 253 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCTTGTTCTTGACTATCTTCA 0.577000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 130 164 0 0 0.014410 0 0 DNAJB6 10049 broad.mit.edu 37 7 157160089 157160089 + Silent SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:157160089A>G ENST00000262177.4 + 5 463 c.258A>G c.(256-258)ccA>ccG p.P86P DNAJB6_ENST00000429029.2_Silent_p.P86P|DNAJB6_ENST00000443280.1_Silent_p.P86P|DNAJB6_ENST00000452797.2_Silent_p.P37P NM_058246.3 NP_490647.1 O75190 DNJB6_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 6 86 Gly/Phe-rich.|Interaction with HSP70. intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein nucleus|perinuclear region of cytoplasm ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding central_nervous_system(1)|lung(1)|ovary(2)|stomach(1) 5 all_neural(206;0.181) all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196) OV - Ovarian serous cystadenocarcinoma(82;0.00399) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) TTGACAGTCCATTTGAATTTG 0.363000 39 55 0 0 0.009718 0 0 OR2L8 391190 broad.mit.edu 37 1 248112660 248112660 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:248112660T>C ENST00000357191.3 + 1 501 c.501T>C c.(499-501)taT>taC p.Y167Y OR2L13_ENST00000366478.2_Intron NM_001001963.1 NP_001001963.1 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene) 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATATTCCTTATTGCCGATCCA 0.473000 26 92 0 0 0.007291 0 0 PTEN 5728 broad.mit.edu 37 10 89717673 89717673 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:89717673G>A ENST00000371953.3 + 7 2055 c.698G>A c.(697-699)cGa>cAa p.R233Q PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 233 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*10(1)|p.R233fs*12(1)|p.R233fs*20(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACCCACACGACGGGAAGAC 0.423000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 44 0 0 0.006122 0 0 MUC6 4588 broad.mit.edu 37 11 1027765 1027765 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1027765G>A ENST00000421673.2 - 16 1951 c.1901C>T c.(1900-1902)gCc>gTc p.A634V NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 634 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCAGGGCGGCACAGATGTG 0.662000 10 4 0 0 0.008291 0 0 ZHX3 23051 broad.mit.edu 37 20 39832302 39832302 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr20:39832302C>T ENST00000309060.3 - 4 1670 c.1255G>A c.(1255-1257)Gag>Aag p.E419K ZHX3_ENST00000544979.2_Missense_Mutation_p.E419K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.E419K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E419K|ZHX3_ENST00000560361.1_Missense_Mutation_p.E419K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E419K|ZHX3_ENST00000557816.1_Intron Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 419 Required for homodimerization and interaction with NFYA.|Required for repressor activity. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) CCTGTACCCTCTGGCTGCCCC 0.582000 29 35 0 0 0.007291 0 0 C12orf77 196415 broad.mit.edu 37 12 25149238 25149238 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:25149238G>A ENST00000549828.1 - 2 243 c.39C>T c.(37-39)ctC>ctT p.L13L C12orf77_ENST00000549262.1_5'UTR|C12orf77_ENST00000434912.3_5'UTR NM_001101339.1 NP_001094809.1 C9JDV5 CL097_HUMAN chromosome 12 open reading frame 77 13 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 TTATGACTAGGAGGGAAATGT 0.408000 14 57 0 0 0.004990 0 0 ITSN2 50618 broad.mit.edu 37 2 24535188 24535188 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:24535188G>A ENST00000355123.4 - 5 688 c.245C>T c.(244-246)gCt>gTt p.A82V ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000361999.3_Missense_Mutation_p.A82V|ITSN2_ENST00000406921.3_Missense_Mutation_p.A82V NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 82 EF-hand 1.|EH 1. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGTTTCATAGCTATGGAGAA 0.443000 40 58 0 0 0.008740 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361469 70361469 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:70361469C>T ENST00000305107.6 - 1 157 c.111G>A c.(109-111)atG>atA p.M37I UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.M37I|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 37 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TCTTTATATTCATCCAGTGGC 0.468000 36 71 0 0 0.021022 0 0 NFX1 4799 broad.mit.edu 37 9 33366702 33366702 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:33366702C>A ENST00000379540.3 + 22 3177 c.3115C>A c.(3115-3117)Caa>Aaa p.Q1039K NFX1_ENST00000463421.1_3'UTR NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 1039 R3H. inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TGACTTGGCCCAAGTTTATGG 0.517000 40 63 2.6416e-12 3.00736e-12 0.006230 1 0 RNF113A 7737 broad.mit.edu 37 X 119005263 119005263 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:119005263G>A ENST00000371442.2 - 1 528 c.314C>T c.(313-315)tCg>tTg p.S105L NM_006978.2 NP_008909.1 O15541 R113A_HUMAN ring finger protein 113A 105 nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6) 15 GGGTTTCGCCGAACGGGTGGA 0.557000 194 31 0 0 0.014410 0 0 PRDX4 10549 broad.mit.edu 37 X 23700610 23700610 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:23700610C>G ENST00000379341.4 + 5 822 c.697C>G c.(697-699)Caa>Gaa p.Q233E NM_006406.1 NP_006397.1 Q13162 PRDX4_HUMAN peroxiredoxin 4 233 Thioredoxin. cell redox homeostasis|I-kappaB phosphorylation thioredoxin peroxidase activity lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 ACGTTTGGTTCAAGCATTCCA 0.378000 46 7 0 0 0.014410 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41615486 41615486 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:41615486G>A ENST00000216237.5 + 6 822 c.664G>A c.(664-666)Gat>Aat p.D222N NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 222 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCTCAACAGTGATGCTGTGCT 0.572000 39 53 0 0 0.009718 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45507706 45507706 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:45507706C>G ENST00000291574.4 + 17 2841 c.2666C>G c.(2665-2667)cCa>cGa p.P889R NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 889 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CCTTCAGCCCCAGCACTCGGA 0.552000 37 58 0 0 0.017118 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659512 24659512 + RNA SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:24659512A>G ENST00000414583.2 + 0 3037 NR_003714.1 TGCCTGGGCCATGGAGCACTC 0.473000 3 16 0 0 0.004672 0 0 DQX1 165545 broad.mit.edu 37 2 74752218 74752218 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:74752218C>T ENST00000404568.3 - 3 568 c.349G>A c.(349-351)Gat>Aat p.D117N DQX1_ENST00000393951.2_Missense_Mutation_p.D117N NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 117 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 TCCATCTCATCAGCAACCCGC 0.622000 33 179 0 0 0.013726 0 0 UFD1L 7353 broad.mit.edu 37 22 19462610 19462610 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:19462610G>A ENST00000263202.10 - 3 279 c.150C>T c.(148-150)ccC>ccT p.P50P UFD1L_ENST00000360834.4_Intron|UFD1L_ENST00000484101.1_5'UTR|UFD1L_ENST00000399523.1_Silent_p.P50P NM_001035247.2|NM_005659.6 NP_001030324.2|NP_005650.2 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1 like (yeast) skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity large_intestine(3)|upper_aerodigestive_tract(1) 4 Colorectal(54;0.0993) CCAGGGCCGAGGGTGGCATAA 0.373000 31 55 0 0 0.015359 0 0 F5 2153 broad.mit.edu 37 1 169519105 169519105 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:169519105G>A ENST00000367796.3 - 10 1746 c.1545C>T c.(1543-1545)atC>atT p.I515I F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Silent_p.I515I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 515 F5/8 type A 2.|Plastocyanin-like 3. 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) GCCCAGAGGCGATGTCTCTCA 0.423000 9 48 0 0 0.008291 0 0 RBM18 92400 broad.mit.edu 37 9 125009805 125009805 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:125009805G>A ENST00000417201.3 - 4 459 c.319C>T c.(319-321)Caa>Taa p.Q107* RBM18_ENST00000483428.1_5'UTR NM_033117.3 NP_149108.1 Q96H35 RBM18_HUMAN RNA binding motif protein 18 107 nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 ACCTTTACTTGAGCATGTGCC 0.498000 13 30 0 0 0.013537 0 0 DDX11 1663 broad.mit.edu 37 12 31256902 31256902 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:31256902G>A ENST00000407793.2 + 27 3099 c.2848G>A c.(2848-2850)Gag>Aag p.E950K DDX11_ENST00000545668.1_Missense_Mutation_p.E950K|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR NM_030653.3|NM_152438.1 NP_085911.2|NP_689651.1 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 950 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 57 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GTGGAGTCCAGAGTGCTGCCA 0.592000 Multiple Myeloma(12;0.14) 6 6 0 0 0.001168 0 0 MIB1 57534 broad.mit.edu 37 18 19359586 19359586 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:19359586G>C ENST00000261537.6 + 6 1112 c.848G>C c.(847-849)gGa>gCa p.G283A MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 283 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) ACTACAACTGGAACTGTTTGT 0.388000 75 88 0 0 0.014410 0 0 GPR18 2841 broad.mit.edu 37 13 99908094 99908094 + Silent SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:99908094G>C ENST00000340807.3 - 3 589 c.33C>G c.(31-33)gtC>gtG p.V11V GPR18_ENST00000397470.2_Silent_p.V11V|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Silent_p.V11V|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 11 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TGTTAAAAGGGACAGGTTGAT 0.323000 13 37 0 0 0.020292 0 0 MED27 9442 broad.mit.edu 37 9 134955169 134955169 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:134955169G>A ENST00000292035.5 - 1 126 c.63C>T c.(61-63)atC>atT p.I21I MED27_ENST00000357028.2_Silent_p.I21I|MED27_ENST00000474263.1_Silent_p.I21I NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 21 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) GCAGCGCCTGGATGGCACTAA 0.612000 16 11 0 0 0.003163 0 0 N4BP2 55728 broad.mit.edu 37 4 40146392 40146392 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:40146392G>C ENST00000261435.6 + 16 5531 c.5115G>C c.(5113-5115)ttG>ttC p.L1705F NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 1705 Smr. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 TAGAACATTTGATGAGAGTTT 0.393000 10 27 0 0 0.008291 0 0 FKBP5 2289 broad.mit.edu 37 6 35588041 35588041 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:35588041G>C ENST00000542713.1 - 4 418 c.261C>G c.(259-261)atC>atG p.I87M FKBP5_ENST00000536438.1_Missense_Mutation_p.I87M|FKBP5_ENST00000357266.4_Missense_Mutation_p.I87M|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.I87M NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 87 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CCCATGCCTTGATGACTTGGC 0.403000 40 41 0 0 0.009718 0 0 TFB1M 51106 broad.mit.edu 37 6 155619653 155619653 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:155619653C>G ENST00000367166.4 - 3 407 c.352G>C c.(352-354)Gaa>Caa p.E118Q NM_016020.3 NP_057104.2 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) AAAGCCTTTTCTACCTTAAAT 0.338000 20 19 0 0 0.018920 0 0 FLNC 2318 broad.mit.edu 37 7 128486934 128486934 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:128486934C>G ENST00000325888.8 + 24 4524 c.4263C>G c.(4261-4263)atC>atG p.I1421M FLNC_ENST00000346177.6_Missense_Mutation_p.I1421M NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1421 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACGTCAACATCACCTTCGGGG 0.602000 19 34 0 0 0.010504 0 0 TEC 7006 broad.mit.edu 37 4 48140938 48140938 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:48140938G>A ENST00000381501.3 - 16 1794 c.1637C>T c.(1636-1638)tCa>tTa p.S546L NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 546 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 CCAGACATCTGATTTGCTGCT 0.443000 17 21 0 0 0.006122 0 0 DNAH1 25981 broad.mit.edu 37 3 52404221 52404221 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:52404221C>T ENST00000420323.2 + 39 6495 c.6234C>T c.(6232-6234)ttC>ttT p.F2078F NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2078 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) TGGACTGCTTCTTCAAGCCCT 0.572000 14 27 0 0 0.020292 0 0 AFF4 27125 broad.mit.edu 37 5 132223670 132223670 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:132223670T>C ENST00000265343.5 - 16 3180 c.2801A>G c.(2800-2802)gAt>gGt p.D934G NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 934 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTCAAACCTATCAGACTGAAG 0.348000 20 11 0 0 0.010504 0 0 UBN2 254048 broad.mit.edu 37 7 138936757 138936757 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:138936757G>C ENST00000473989.3 + 3 617 c.617G>C c.(616-618)gGc>gCc p.G206A UBN2_ENST00000288561.8_Missense_Mutation_p.G123A NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 ATTGATATAGGCTTTGGCTAT 0.383000 21 56 0 0 0.016522 0 0 ADH1B 125 broad.mit.edu 37 4 100237199 100237199 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:100237199G>A ENST00000305046.8 - 5 490 c.423C>T c.(421-423)ttC>ttT p.F141F ADH1B_ENST00000394887.3_Silent_p.F101F P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 141 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) TGGTGCCAAGGAAGTGGTGAA 0.577000 26 46 0 0 0.018920 0 0 DHX33 56919 broad.mit.edu 37 17 5371895 5371895 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:5371895G>A ENST00000225296.3 - 1 485 c.285C>T c.(283-285)ctC>ctT p.L95L DHX33_ENST00000433302.3_Silent_p.L95L NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 95 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 ACTCACCGATGAGGACCGCGT 0.612000 5 16 0 0 0.001168 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123169489 123169489 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:123169489G>A ENST00000349780.4 - 32 4943 c.4764C>T c.(4762-4764)ttC>ttT p.F1588F CDK5RAP2_ENST00000359309.3_Silent_p.F1547F|CDK5RAP2_ENST00000360822.3_Silent_p.F1556F|CDK5RAP2_ENST00000360190.4_Intron NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1588 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GCAGGTCCCTGAAAGGATCCT 0.567000 19 40 0 0 0.010504 0 0 SLC4A5 57835 broad.mit.edu 37 2 74531720 74531720 + Missense_Mutation SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:74531720T>G ENST00000394019.2 - 7 564 c.167A>C c.(166-168)aAa>aCa p.K56T SLC4A5_ENST00000423644.1_Missense_Mutation_p.K56T|SLC4A5_ENST00000358683.4_Intron|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.K56T|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000346834.4_Missense_Mutation_p.K56T|SLC4A5_ENST00000377634.4_Missense_Mutation_p.K56T|SLC4A5_ENST00000357822.5_Missense_Mutation_p.K56T|SLC4A5_ENST00000359484.4_Intron NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 56 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CCAGTGGACTTTTTGCAGGCC 0.572000 32 182 0 0 0.012213 0 0 KIAA1683 80726 broad.mit.edu 37 19 18377736 18377736 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:18377736G>A ENST00000392413.4 - 3 829 c.614C>T c.(613-615)cCc>cTc p.P205L KIAA1683_ENST00000600328.3_Missense_Mutation_p.P205L|KIAA1683_ENST00000600359.3_Missense_Mutation_p.P159L NM_001145304.1 NP_001138776.1 Q9H0B3 K1683_HUMAN KIAA1683 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 GGACGACTGGGGTCTGCAGAG 0.642000 9 29 0 0 0.004482 0 0 LINC00969 440993 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 4 22 0 0 0.009096 0 0 TCEAL2 140597 broad.mit.edu 37 X 101381895 101381895 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:101381895A>C ENST00000372780.1 + 3 312 c.93A>C c.(91-93)gaA>gaC p.E31D TCEAL2_ENST00000329035.2_Missense_Mutation_p.E31D NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 GAAAGCCAGAAGTAGCTTGTA 0.423000 3 40 0 0 0.009096 0 0 ARVCF 421 broad.mit.edu 37 22 19965031 19965031 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:19965031G>A ENST00000263207.3 - 9 2068 c.1777C>T c.(1777-1779)Cag>Tag p.Q593* ARVCF_ENST00000344269.3_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000406522.1_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000401994.1_Nonsense_Mutation_p.Q530*|ARVCF_ENST00000406259.1_Nonsense_Mutation_p.Q593* NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 593 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) TCGGCCTCCTGGTACCTGTCG 0.662000 58 89 0 0 0.014410 0 0 XKR8 55113 broad.mit.edu 37 1 28290197 28290197 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:28290197C>T ENST00000373884.5 + 2 1091 c.483C>T c.(481-483)taC>taT p.Y161Y XKR8_ENST00000481387.1_3'UTR NM_018053.2 NP_060523.2 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related family, member 8 161 integral to membrane endometrium(1)|large_intestine(2)|lung(1) 4 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) GGGCTGAGTACTACCAGTGTG 0.567000 12 4 0 0 0.010729 0 0 AK7 122481 broad.mit.edu 37 14 96949491 96949491 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:96949491G>A ENST00000267584.4 + 16 1953 c.1909G>A c.(1909-1911)Gaa>Aaa p.E637K NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 637 Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.E637K(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GGCTGCTGAGGAAGCAGAACG 0.567000 16 8 0 0 0.003163 0 0 ACTR3 10096 broad.mit.edu 37 2 114713209 114713209 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:114713209A>G ENST00000263238.2 + 11 1407 c.1087A>G c.(1087-1089)Att>Gtt p.I363V ACTR3_ENST00000536059.1_Missense_Mutation_p.I301V|ACTR3_ENST00000535589.2_Missense_Mutation_p.I312V NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 363 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 GCCAAAACCTATTGATGTACA 0.343000 7 60 0 0 0.001984 0 0 IHH 3549 broad.mit.edu 37 2 219920154 219920154 + Silent SNP T T G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:219920154T>G ENST00000295731.6 - 3 1010 c.1011A>C c.(1009-1011)acA>acC p.T337T NM_002181.3 NP_002172.2 Q14623 IHH_HUMAN indian hedgehog cell-cell signaling|intein-mediated protein splicing|proteolysis extracellular space|plasma membrane cholesterol binding|patched binding|peptidase activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 14 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACCACCAGTGTCCCATGCT 0.662000 23 28 0 0 0.021523 0 0 ERCC2 2068 broad.mit.edu 37 19 45867774 45867774 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:45867774T>C ENST00000391945.4 - 8 703 c.626A>G c.(625-627)tAc>tGc p.Y209C ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.Y185C|ERCC2_ENST00000391944.3_Missense_Mutation_p.Y131C|ERCC2_ENST00000485403.2_Missense_Mutation_p.Y185C NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 209 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) GAGGTAGTGGTAGCTATAAAC 0.632000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 14 39 0 0 0.020292 0 0 HMGN1 3150 broad.mit.edu 37 21 40720485 40720485 + Missense_Mutation SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:40720485C>G ENST00000380749.5 - 2 316 c.34G>C c.(34-36)Gcc>Ccc p.A12P HMGN1_ENST00000380748.1_Missense_Mutation_p.A12P|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380747.1_Missense_Mutation_p.A28P NM_004965.6 NP_004956.5 P05114 HMGN1_HUMAN high mobility group nucleosome binding domain 1 12 positive regulation of transcription elongation, DNA-dependent chromatin|cytoplasm|nucleus DNA binding breast(2)|lung(1) 3 Prostate(19;8.69e-07) TCCTTGGCGGCGCCTTCGGCG 0.677000 7 30 0 0 0.001984 0 0 SRPX2 27286 broad.mit.edu 37 X 99919817 99919817 + Silent SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:99919817C>A ENST00000373004.3 + 5 830 c.402C>A c.(400-402)acC>acA p.T134T NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 134 Sushi 2. angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 GCACTTACACCTGCACAAATG 0.512000 3 13 0.004672 0.00503487 0.004672 1 0 ZFP14 57677 broad.mit.edu 37 19 36832186 36832186 + Missense_Mutation SNP A A C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:36832186A>C ENST00000270001.7 - 5 657 c.542T>G c.(541-543)tTt>tGt p.F181C NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) GCGACGAATAAAGGTCTTCCT 0.403000 24 52 0 0 0.018920 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123170639 123170639 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:123170639T>A ENST00000349780.4 - 31 4891 c.4712A>T c.(4711-4713)cAc>cTc p.H1571L CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1530L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1539L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1571L NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1571 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 CAGTCTCCTGTGCTCTTCATC 0.557000 36 35 0 0 0.021022 0 0 ZNF300 91975 broad.mit.edu 37 5 150275116 150275116 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:150275116G>A ENST00000446148.2 - 7 2160 c.1733C>T c.(1732-1734)tCa>tTa p.S578L ZNF300_ENST00000274599.5_Missense_Mutation_p.S562L|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.S562L|ZNF300_ENST00000418587.2_Missense_Mutation_p.S526L NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACAAGGTCTGACTTCTGAGA 0.458000 34 15 0 0 0.015359 0 0 DNAH7 56171 broad.mit.edu 37 2 196729415 196729415 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:196729415G>T ENST00000312428.6 - 41 7064 c.6964C>A c.(6964-6966)Cac>Aac p.H2322N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2322 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CTGCTGATGTGCTCTATGGCA 0.448000 5 60 3.59834e-05 3.99415e-05 0.001168 1 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011334 105011334 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chrX:105011334C>A ENST00000372582.1 + 11 2497 c.1741C>A c.(1741-1743)Ctc>Atc p.L581I IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L581I NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 581 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TTTTGGAGAACTCCAGCCTAT 0.453000 7 54 5.18039e-06 5.79369e-06 0.003080 1 0 NTRK2 4915 broad.mit.edu 37 9 87338604 87338604 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:87338604A>T ENST00000304053.6 + 7 1183 c.700A>T c.(700-702)Aac>Tac p.N234Y NTRK2_ENST00000359847.3_Missense_Mutation_p.N234Y|NTRK2_ENST00000395866.2_Missense_Mutation_p.N78Y|NTRK2_ENST00000376213.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000323115.4_Missense_Mutation_p.N234Y|NTRK2_ENST00000376214.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000395882.1_Missense_Mutation_p.N234Y|NTRK2_ENST00000277120.3_Missense_Mutation_p.N234Y|NTRK2_ENST00000376208.1_Missense_Mutation_p.N234Y NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 234 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GGATGTTGGTAACCTGGTTTC 0.433000 TSP Lung(25;0.17) 17 88 0 0 0.007413 0 0 NAP1L1 4673 broad.mit.edu 37 12 76447574 76447574 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:76447574C>T ENST00000261182.8 - 9 1232 c.746G>A c.(745-747)gGa>gAa p.G249E NAP1L1_ENST00000548044.1_Missense_Mutation_p.G208E|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G181E|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G186E|NAP1L1_ENST00000393263.3_Missense_Mutation_p.G249E|NAP1L1_ENST00000547993.1_Missense_Mutation_p.G66E|NAP1L1_ENST00000535020.2_Missense_Mutation_p.G249E|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G207E|NAP1L1_ENST00000549596.1_Missense_Mutation_p.G249E|NAP1L1_ENST00000552342.1_Missense_Mutation_p.G260E|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G66E NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 249 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) AATTTCTGGTCCATCAAAAGA 0.323000 8 24 0 0 0.003080 0 0 ESRP2 80004 broad.mit.edu 37 16 68269814 68269814 + Silent SNP C C G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:68269814C>G ENST00000473183.2 - 1 673 c.135G>C c.(133-135)ctG>ctC p.L45L ESRP2_ENST00000565858.1_Silent_p.L45L Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 45 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 CGTCCGAGCCCAGGTCCCGTC 0.706000 10 11 0 0 0.008291 0 0 RGMA 56963 broad.mit.edu 37 15 93588760 93588760 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr15:93588760G>T ENST00000329082.7 - 4 1092 c.821C>A c.(820-822)gCc>gAc p.A274D RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000557301.1_Missense_Mutation_p.A282D|RGMA_ENST00000538818.1_Missense_Mutation_p.A165D|RGMA_ENST00000425933.2_Missense_Mutation_p.A258D|RGMA_ENST00000543599.1_Missense_Mutation_p.A258D|RGMA_ENST00000542321.2_Missense_Mutation_p.A258D|RGMA_ENST00000556658.1_Missense_Mutation_p.A165D NM_020211.2 NP_064596 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 274 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GATGTACTTGGCCTGGATCTC 0.617000 27 9 3.1745e-13 3.65149e-13 0.008361 1 0 TACC2 10579 broad.mit.edu 37 10 123845774 123845774 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:123845774G>A ENST00000369005.1 + 4 4099 c.3759G>A c.(3757-3759)gtG>gtA p.V1253V TACC2_ENST00000515273.1_Silent_p.V1253V|TACC2_ENST00000453444.2_Silent_p.V1253V|TACC2_ENST00000334433.3_Silent_p.V1253V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1253V|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1253 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACAGTGGAGTGAAAGCTGTTT 0.592000 36 54 0 0 0.005524 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 358 0 0 0.001168 0 0 WDR36 134430 broad.mit.edu 37 5 110445967 110445967 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr5:110445967C>T ENST00000506538.2 + 13 2147 c.1574C>T c.(1573-1575)tCt>tTt p.S525F WDR36_ENST00000505303.1_Missense_Mutation_p.S469F|WDR36_ENST00000513710.2_Missense_Mutation_p.S525F NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 525 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) AACATGCAGTCTGGCATACAT 0.358000 29 16 0 0 0.008361 0 0 KCNA6 3742 broad.mit.edu 37 12 4920654 4920654 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:4920654G>A ENST00000433855.1 + 1 2313 c.1447G>A c.(1447-1449)Ggg>Agg p.G483R KCNA6_ENST00000280684.3_Missense_Mutation_p.G483R NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 483 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CGTCACTTGTGGGCAGCCTGC 0.607000 HNSCC(72;0.22) 21 48 0 0 0.012319 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273432 26273432 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:26273432G>A ENST00000377733.2 + 1 289 c.229G>A c.(229-231)Gag>Aag p.E77K NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.E77Q(2)|p.E77K(2) central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 CATTGCAGGCGAGGCTTCCCG 0.587000 32 111 0 0 0.010818 0 0 BIRC6 57448 broad.mit.edu 37 2 32738106 32738106 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:32738106G>A ENST00000421745.2 + 54 10587 c.10453G>A c.(10453-10455)Ggt>Agt p.G3485S NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3485 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGTAGAGTATGGTCTTCTGAT 0.453000 10 81 0 0 0.006214 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814151 106814151 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr8:106814151C>A ENST00000407775.2 + 8 2091 c.1841C>A c.(1840-1842)gCt>gAt p.A614D ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A345D|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A482D|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A482D NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 614 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTCATTCTGCTGATCCTGAG 0.463000 11 62 3.86212e-05 4.26562e-05 0.008291 1 0 MAP4K2 5871 broad.mit.edu 37 11 64570095 64570095 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:64570095A>G ENST00000294066.2 - 3 276 c.185T>C c.(184-186)aTc>aCc p.I62T MAP4K2_ENST00000468062.1_5'UTR|MAP4K2_ENST00000377350.3_Missense_Mutation_p.I62T NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 62 Protein kinase. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CAGGATGGTGATTTCCTGCTG 0.617000 11 20 0 0 0.003163 0 0 EVX2 344191 broad.mit.edu 37 2 176947052 176947052 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:176947052C>T ENST00000308618.4 - 2 689 c.553G>A c.(553-555)Gcg>Acg p.A185T NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 185 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) ACTTGATCCGCGCCAGAGCCG 0.721000 3 11 0 0 0.004672 0 0 CDK17 5128 broad.mit.edu 37 12 96728597 96728597 + Missense_Mutation SNP T T A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:96728597T>A ENST00000261211.3 - 2 621 c.18A>T c.(16-18)agA>agT p.R6S CDK17_ENST00000542666.1_Intron|CDK17_ENST00000543119.2_Missense_Mutation_p.R6S NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 6 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 GGGATAGCCTTCTCTTAAATT 0.338000 5 14 0 0 0.001168 0 0 STAP2 55620 broad.mit.edu 37 19 4338736 4338736 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:4338736C>T ENST00000600324.1 - 1 82 c.15G>A c.(13-15)ctG>ctA p.L5L STAP2_ENST00000594605.1_Silent_p.L5L NM_017720.2 NP_060190.2 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 5 cytoplasm|nucleus protein binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGTGGCCTCAGGGCAGAGG 0.627000 9 26 0 0 0.010729 0 0 EP300 2033 broad.mit.edu 37 22 41565529 41565529 + Missense_Mutation SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:41565529G>T ENST00000263253.7 + 26 5414 c.4195G>T c.(4195-4197)Gat>Tat p.D1399Y RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1399 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding p.D1399N(5)|p.D1399Y(2) NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ATCTTACCTCGATAGTGTTCA 0.338000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 30 55 1.08312e-15 1.25563e-15 0.009535 1 0 AUNIP 79000 broad.mit.edu 37 1 26161564 26161564 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:26161564C>T ENST00000374298.3 - 3 1048 c.994G>A c.(994-996)Ggg>Agg p.G332R AUNIP_ENST00000481602.1_Intron|AUNIP_ENST00000538789.1_Missense_Mutation_p.G332R NM_024037.1 NP_076942.1 aurora kinase A and ninein interacting protein TGAGTTGGCCCATCCTCCTGG 0.443000 35 492 0 0 0.017118 0 0 TBP 6908 broad.mit.edu 37 6 170871088 170871088 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:170871088G>A ENST00000392092.2 + 3 543 c.264G>A c.(262-264)caG>caA p.Q88Q TBP_ENST00000230354.6_Silent_p.Q88Q|TBP_ENST00000540980.1_Silent_p.Q68Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 88 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q88Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 4 20 0 0 0.014758 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102550300 102550300 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:102550300C>T ENST00000334701.7 - 8 1815 c.1534G>A c.(1534-1536)Gac>Aac p.D512N HSP90AA1_ENST00000441629.2_Missense_Mutation_p.D211N|HSP90AA1_ENST00000216281.8_Missense_Mutation_p.D390N NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 390 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TCCTCCGAGTCTACCACCCCT 0.363000 19 10 0 0 0.010504 0 0 LEPR 3953 broad.mit.edu 37 1 66102578 66102578 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:66102578T>C ENST00000349533.6 + 20 3563 c.3378T>C c.(3376-3378)aaT>aaC p.N1126N LEPR_ENST00000406510.3_Silent_p.N193N NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1126 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTGTAGAAAATAATATCAACT 0.403000 5 22 0 0 0.001168 0 0 NCMAP 400746 broad.mit.edu 37 1 24932122 24932122 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:24932122G>A ENST00000374392.2 + 4 259 c.193G>A c.(193-195)Gag>Aag p.E65K NCMAP_ENST00000486262.1_3'UTR NM_001010980.4 NP_001010980.1 noncompact myelin associated protein GCGGGAACTAGAGCCCAAGGG 0.587000 51 29 0 0 0.014410 0 0 LPIN2 9663 broad.mit.edu 37 18 2954522 2954522 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr18:2954522C>T ENST00000261596.4 - 3 506 c.268G>A c.(268-270)Gag>Aag p.E90K RP11-737O24.2_ENST00000584431.1_RNA NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 90 N-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TCAGTCTCCTCAACAAAGAAA 0.453000 18 23 0 0 0.007413 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133667440 133667440 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:133667440G>A ENST00000310926.4 - 8 1318 c.1045C>T c.(1045-1047)Ctc>Ttc p.L349F SLCO2A1_ENST00000493729.1_Missense_Mutation_p.L273F NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 349 sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AACTTGTTGAGGAAGGTGGAG 0.572000 4 169 0 0 0.009096 0 0 TCF25 22980 broad.mit.edu 37 16 89958628 89958628 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:89958628C>T ENST00000263346.8 + 6 698 c.642C>T c.(640-642)ccC>ccT p.P214P TCF25_ENST00000263347.7_5'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 214 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P214L(1) breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) GTGTGTACCCCAAGTGCACAT 0.617000 4 21 0 0 0.001168 0 0 NLGN1 22871 broad.mit.edu 37 3 173996714 173996714 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:173996714A>T ENST00000457714.1 + 6 1352 c.923A>T c.(922-924)cAa>cTa p.Q308L NLGN1_ENST00000545397.1_Missense_Mutation_p.Q308L|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q308L|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q348L|NLGN1_ENST00000466350.1_3'UTR NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 325 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) GTTAGTTTTCAACCTGCAAAA 0.388000 11 23 0 0 0.013537 0 0 FRMD3 257019 broad.mit.edu 37 9 86153040 86153040 + Missense_Mutation SNP A A G TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr9:86153040A>G ENST00000304195.3 - 1 313 c.107T>C c.(106-108)aTc>aCc p.I36T FRMD3_ENST00000376438.1_Missense_Mutation_p.I36T NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 36 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 CAGCAGCCGGATGGTGCATCT 0.652000 9 16 0 0 0.004482 0 0 ZFP57 346171 broad.mit.edu 37 6 29641397 29641397 + Missense_Mutation SNP C C A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:29641397C>A ENST00000376883.1 - 6 842 c.431G>T c.(430-432)cGg>cTg p.R144L ZFP57_ENST00000488757.1_Missense_Mutation_p.R164L|ZFP57_ENST00000376881.3_Missense_Mutation_p.R144L Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 80 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 TTGAAGCACCCGGGTCCTGTC 0.572000 13 187 5.50884e-06 6.14554e-06 0.013537 1 0 MAP4K3 8491 broad.mit.edu 37 2 39499674 39499674 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:39499674G>A ENST00000263881.3 - 25 2128 c.1804C>T c.(1804-1806)Cga>Tga p.R602* MAP4K3_ENST00000437545.1_Nonsense_Mutation_p.R518*|MAP4K3_ENST00000341681.5_Nonsense_Mutation_p.R581*|MAP4K3_ENST00000536018.1_Nonsense_Mutation_p.R155* NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 602 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GTACACCTTCGAGGGAATAGC 0.294000 32 72 0 0 0.005524 0 0 SACS 26278 broad.mit.edu 37 13 23906653 23906653 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:23906653G>A ENST00000382298.3 - 10 11950 c.11362C>T c.(11362-11364)Cgt>Tgt p.R3788C SACS_ENST00000402364.1_Missense_Mutation_p.R3038C|SACS_ENST00000382292.3_Missense_Mutation_p.R3788C NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3788 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding p.R3641C(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTGAAAACGAAATTCCCTT 0.383000 28 48 0 0 0.005443 0 0 TYW1B 441250 broad.mit.edu 37 7 72298686 72298686 + RNA SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:72298686C>T ENST00000438904.2 - 0 67 TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ACTAGGATCTCGGACCTGGAG 0.632000 9 17 0 0 0.008291 0 0 UPK1A 11045 broad.mit.edu 37 19 36157752 36157752 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr19:36157752C>T ENST00000222275.2 + 1 38 c.38C>T c.(37-39)tCt>tTt p.S13F UPK1A_ENST00000379013.2_Missense_Mutation_p.S13F NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 13 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGAAGGGATCTCCAGTTGTG 0.622000 24 52 0 0 0.016522 0 0 SSH3 54961 broad.mit.edu 37 11 67071614 67071614 + Missense_Mutation SNP G G A rs138958962 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:67071614G>A ENST00000308127.4 + 2 270 c.92G>A c.(91-93)cGa>cAa p.R31Q SSH3_ENST00000376757.5_Missense_Mutation_p.R31Q|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.R31Q NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 31 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CGAAGGAGTCGACTCCAGCGA 0.692000 13 14 0 0 0.016723 0 0 ITGA4 3676 broad.mit.edu 37 2 182347105 182347105 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:182347105G>A ENST00000397033.2 + 8 1289 c.859G>A c.(859-861)Gat>Aat p.D287N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 287 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATTCAGCATTGATGAAAAAGA 0.308000 15 35 0 0 0.003163 0 0 INTS1 26173 broad.mit.edu 37 7 1544185 1544185 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr7:1544185C>T ENST00000389470.4 - 2 116 c.117G>A c.(115-117)cgG>cgA p.R39R Q8N201 INT1_HUMAN integrator complex subunit 1 0 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGCATGTGGTCCGGTCCAGGT 0.771000 11 12 0 0 0.020292 0 0 EVL 51466 broad.mit.edu 37 14 100604145 100604145 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:100604145G>A ENST00000544450.2 + 11 1395 c.1112G>A c.(1111-1113)cGa>cAa p.R371Q EVL_ENST00000392920.3_Intron|EVL_ENST00000402714.2_Intron Q9UI08 EVL_HUMAN Enah/Vasp-like 365 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) TCTAGGTACCGAACAACCCTC 0.567000 34 22 0 0 0.013726 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562941 32562941 + Silent SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr14:32562941T>C ENST00000345122.3 + 2 3381 c.3066T>C c.(3064-3066)caT>caC p.H1022H ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Silent_p.H1022H|ARHGAP5_ENST00000432921.1_Silent_p.H1022H|ARHGAP5_ENST00000556611.1_Silent_p.H1022H|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1022 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATCCTATTCATAGTACCCCAA 0.403000 15 65 0 0 0.003163 0 0 ADCK3 56997 broad.mit.edu 37 1 227152913 227152913 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:227152913C>T ENST00000366779.1 + 8 3161 c.390C>T c.(388-390)ttC>ttT p.F130F ADCK3_ENST00000366778.1_Silent_p.F78F|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366777.3_Silent_p.F130F|ADCK3_ENST00000458507.2_Intron Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 130 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 AAGCCGGGTTCCCCGGCCAGG 0.657000 16 28 0 0 0.004990 0 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr21:44524456G>A ENST00000291552.4 - 2 193 c.101C>T c.(100-102)tCt>tTt p.S34F U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 34 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.S34F(45)|p.S34Y(12) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 GTGCAACCGAGAGCACCTGTC 0.358000 Mis """CLL, MDS""" 8 14 0 0 0.004482 0 0 ZNF267 10308 broad.mit.edu 37 16 31927008 31927008 + Missense_Mutation SNP A A T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:31927008A>T ENST00000300870.10 + 4 1647 c.1438A>T c.(1438-1440)Att>Ttt p.I480F NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 480 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 TTCAAATCTTATTATGCATCA 0.363000 11 56 0 0 0.008291 0 0 IKZF3 22806 broad.mit.edu 37 17 37947792 37947792 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:37947792G>A ENST00000346872.3 - 5 530 c.469C>T c.(469-471)Cag>Tag p.Q157* IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000377958.2_Nonsense_Mutation_p.Q70*|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000350532.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000351680.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000346243.3_Nonsense_Mutation_p.Q157*|IKZF3_ENST00000439167.2_Nonsense_Mutation_p.Q123*|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000535189.1_Nonsense_Mutation_p.Q123* NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 157 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TTACCTTTCTGAGTAAAAGAT 0.448000 1024 103 0 0 0.014410 0 0 ITGA3 3675 broad.mit.edu 37 17 48153806 48153806 + Silent SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:48153806C>T ENST00000320031.8 + 13 2121 c.1791C>T c.(1789-1791)ctC>ctT p.L597L ITGA3_ENST00000007722.7_Silent_p.L597L|ITGA3_ENST00000544892.1_3'UTR NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 597 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 ACCCGATCCTCAACCAGGCAC 0.647000 32 160 0 0 0.010818 0 0 SH3RF1 57630 broad.mit.edu 37 4 170028077 170028077 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr4:170028077G>A ENST00000284637.9 - 11 2760 c.2419C>T c.(2419-2421)Ccc>Tcc p.P807S NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 807 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GGAGCGATGGGAACTGCGGAG 0.587000 30 45 0 0 0.007291 0 0 GOLGB1 2804 broad.mit.edu 37 3 121413222 121413222 + Silent SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:121413222G>A ENST00000393667.3 - 13 6258 c.6148C>T c.(6148-6150)Cta>Tta p.L2050L GOLGB1_ENST00000340645.5_Silent_p.L2045L NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2045 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ACAAATTCTAGAGCTTTAACA 0.373000 56 24 0 0 0.014410 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 42 0 0 0.009096 0 0 LRRTM3 347731 broad.mit.edu 37 10 68688007 68688007 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:68688007T>C ENST00000361320.4 + 2 1911 c.1333T>C c.(1333-1335)Tac>Cac p.Y445H CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 445 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 ATGGAAGCGGTACCCTGCGAG 0.552000 18 57 0 0 0.007413 0 0 TP53 7157 broad.mit.edu 37 17 7578500 7578500 + Nonsense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr17:7578500G>A ENST00000420246.2 - 5 562 c.430C>T c.(430-432)Cag>Tag p.Q144* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q144*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q144*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q144* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 144 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144K(2)|p.Q12*(2)|p.Q144fs*26(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACCCACAGCTGCACAGGGCAG 0.597000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 32 39 0 0 0.013726 0 0 SMAGP 57228 broad.mit.edu 37 12 51639758 51639758 + Silent SNP G G T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:51639758G>T ENST00000603798.1 - 4 933 c.261C>A c.(259-261)gcC>gcA p.A87A DAZAP2_ENST00000604900.1_Intron|SMAGP_ENST00000398453.3_Silent_p.A87A|DAZAP2_ENST00000425012.2_Intron|SMAGP_ENST00000605627.1_Silent_p.A73A|SMAGP_ENST00000603864.1_Silent_p.A87A NM_001031628.1 NP_001026798.1 Q0VAQ4 SMAGP_HUMAN small cell adhesion glycoprotein 87 cytoplasmic vesicle membrane|integral to membrane|plasma membrane CGCTGCCCTTGGCCAAGTCAC 0.488000 22 36 3.8784e-16 4.50788e-16 0.012319 1 0 GPLD1 2822 broad.mit.edu 37 6 24454389 24454389 + Missense_Mutation SNP C C T TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:24454389C>T ENST00000230036.1 - 14 1299 c.1189G>A c.(1189-1191)Gac>Aac p.D397N NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 397 extracellular region glycosylphosphatidylinositol phospholipase D activity breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 32 ACCACGAGGTCACCGTGCCCA 0.612000 20 30 0 0 0.008871 0 0 TMEM5 10329 broad.mit.edu 37 12 64199128 64199128 + Missense_Mutation SNP G G A TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr12:64199128G>A ENST00000537373.1 + 5 1026 c.78G>A c.(76-78)atG>atA p.M26I TMEM5_ENST00000261234.6_Missense_Mutation_p.M286I NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 286 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) AGGCACTAATGAACATTTTGA 0.368000 22 50 0 0 0.018920 0 0 PADI2 11240 broad.mit.edu 37 1 17402183 17402190 + Frame_Shift_Del DEL GGGGATGG GGGGATGG - rs146438183 byFrequency TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr1:17402183_17402190delGGGGATGG ENST00000375486.4 - 12 1502_1509 c.1439_1446delCCATCCCC c.(1438-1446)cccatccccfs p.PIP480fs PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Frame_Shift_Del_p.PIP364fs NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 480 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CCTTTGTGCCGGGGATGGGGACAAAGGA 0.591 OREG0013145 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 52 --- --- --- --- KIDINS220 57498 broad.mit.edu 37 2 8919881 8919894 + Frame_Shift_Del DEL TCTGAGTGAAGCTG TCTGAGTGAAGCTG - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:8919881_8919894delTCTGAGTGAAGCTG ENST00000256707.3 - 18 2461_2474 c.2280_2293delCAGCTTCACTCAGA c.(2278-2295)gacagcttcactcagaatfs p.DSFTQN760fs KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.DSFTQN761fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.DSFTQN760fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.DSFTQN760fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.DSFTQN718fs NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 760 KAP NTPase. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane p.Q764*(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CTTGTCTGATTCTGAGTGAAGCTGTCAATGGTTT 0.458 13 39 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85852670 85852684 + In_Frame_Del DEL GAAGCCCACTTTCAC GAAGCCCACTTTCAC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:85852670_85852684delGAAGCCCACTTTCAC ENST00000323701.6 + 5 589_603 c.579_593delGAAGCCCACTTTCAC c.(577-594)ttgaagcccactttcaca>tta p.KPTFT194del USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_In_Frame_Del_p.KPTFT194del|USP39_ENST00000409766.3_In_Frame_Del_p.KPTFT194del|USP39_ENST00000450066.2_In_Frame_Del_p.KPTFT91del|USP39_ENST00000409470.1_In_Frame_Del_p.KPTFT194del NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 194 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 AGTATGTGTTGAAGCCCACTTTCACAAAGCAGCAA 0.391 9 80 --- --- --- --- TMEM131 23505 broad.mit.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr2:98427639delT ENST00000186436.5 - 18 2148 c.1920delA c.(1918-1920)aaafs p.K640fs NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 640 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TCCCCTCTAATTTTTTTGCAG 0.393 9 442 --- --- --- --- GRIP2 80852 broad.mit.edu 37 3 14555758 14555759 + RNA INS - - AGTT rs10656368 by1000genomes TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr3:14555758_14555759insAGTT ENST00000273083.3 - 0 1558 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CAGTTTCTCTCAGAGAGTGGCA 0.579 5 1 --- --- --- --- SLC22A1 6580 broad.mit.edu 37 6 160560699 160560713 + In_Frame_Del DEL TGCTCTATCAGGGGC TGCTCTATCAGGGGC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr6:160560699_160560713delTGCTCTATCAGGGGC ENST00000366963.4 + 7 1223_1237 c.1076_1090delTGCTCTATCAGGGGC c.(1075-1092)gtgctctatcaggggctc>gtc p.LYQGL360del SLC22A1_ENST00000457470.2_In_Frame_Del_p.LYQGL360del|SLC22A1_ENST00000324965.4_In_Frame_Del_p.LYQGL360del NM_003057.2|NM_153187.1 NP_003048.1|NP_694857.1 O15245 S22A1_HUMAN solute carrier family 22 (organic cation transporter), member 1 360 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ACGGACTCTGTGCTCTATCAGGGGCTCATCCTGCA 0.516 11 30 --- --- --- --- CSTF2T 23283 broad.mit.edu 37 10 53459010 53459012 + In_Frame_Del DEL CTC CTC - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr10:53459010_53459012delCTC ENST00000331173.4 - 1 343_345 c.298_300delGAG c.(298-300)gagdel p.E100del PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 100 mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GGCTCTTTAACTCCTCCTTATTC 0.557 21 107 --- --- --- --- DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG CG - rs61747093 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:1577819_1577820delCG ENST00000397374.3 - 7 1933_1934 c.1806_1807delCG c.(1804-1809)cgcggcfs p.G603fs DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G603fs NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 603 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 4 5 --- --- --- --- KMT2A 4297 broad.mit.edu 37 11 118392755 118392756 + Frame_Shift_Del DEL TG TG - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr11:118392755_118392756delTG ENST00000534358.1 + 36 11810_11811 c.11787_11788delTG c.(11785-11790)attgtcfs p.V3930fs RP11-770J1.3_ENST00000532597.1_RNA|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.V3889fs|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000389506.5_Frame_Shift_Del_p.V3927fs NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGAAGCACATTGTCATCTTTGC 0.490 47 62 --- --- --- --- MTUS2 23281 broad.mit.edu 37 13 30077186 30077188 + In_Frame_Del DEL AGA AGA - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr13:30077186_30077188delAGA ENST00000431530.3 + 14 4041_4043 c.3983_3985delAGA c.(3982-3987)gagaag>gag p.K1330del MTUS2_ENST00000380808.2_In_Frame_Del_p.K299del|MTUS2_ENST00000542829.1_In_Frame_Del_p.K209del|MTUS2_ENST00000400542.3_3'UTR NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1320 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAAACCCAGGAGAAGAAGAGATT 0.493 7 60 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19073098 19073101 + Splice_Site DEL AGGA AGGA - TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr16:19073098_19073101delAGGA ENST00000421369.3 + 16 2334_2336 c.1776_1778delAGGA c.(1774-1779)ctagga>cta p.G593fs TMC7_ENST00000304381.5_Splice_Site_p.G703fs NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 703 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 ATTATTTTTTAGGAAAGTCGTGAC 0.402 8 8 --- --- --- --- IGLV3-9 28804 broad.mit.edu 37 22 23161844 23161845 + RNA DEL CC CC - rs72002333 TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 97a755af-ca00-4116-8a32-0984dbfb1585 985f656f-21ff-4dad-8ff3-4678322e5b31 g.chr22:23161844_23161845delCC ENST00000390316.2 + 0 161 TGCTCATGGTCCCCTGAGGACA 0.554 9 5 --- --- --- ---