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 ST3GAL5 8869 broad.mit.edu 37 2 86075319 86075319 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:86075319C>G ENST00000377332.3 - 4 435 c.327G>C c.(325-327)caG>caC p.Q109H ST3GAL5_ENST00000393805.1_Missense_Mutation_p.Q81H|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.Q86H NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 109 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 GAGCATATTTCTGAGCTCTCT 0.408000 4 172 0 0 1 0 0 POLD1 5424 broad.mit.edu 37 19 50905944 50905944 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:50905944C>T ENST00000440232.2 + 8 969 c.916C>T c.(916-918)Cgc>Tgc p.R306C POLD1_ENST00000599857.1_Missense_Mutation_p.R306C|POLD1_ENST00000595904.1_Missense_Mutation_p.R306C NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 306 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GCCATGGCAGCGCATTGCGCC 0.672000 DNA polymerases (catalytic subunits) 7 9 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126398323 126398323 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:126398323C>T ENST00000394329.3 + 13 12320 c.12307C>T c.(12307-12309)Cag>Tag p.Q4103* FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q2366* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4103 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTTGATGTTCAGCCAAATAG 0.333000 41 86 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56765247 56765247 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:56765247G>C ENST00000370754.5 - 3 388 c.389C>G c.(388-390)tCt>tGt p.S130C Q03001 DYST_HUMAN dystonin 0 Actin-binding.|CH 1. 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) ACCTTGAACAGAGTGATAAAA 0.398000 55 126 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41327878 41327878 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:41327878C>G ENST00000422280.1 + 2 521 c.62C>G c.(61-63)tCt>tGt p.S21C NBR1_ENST00000542611.1_Missense_Mutation_p.S21C|NBR1_ENST00000590996.1_Missense_Mutation_p.S21C|NBR1_ENST00000589872.1_Missense_Mutation_p.S21C|NBR1_ENST00000341165.6_Missense_Mutation_p.S21C|NBR1_ENST00000389312.4_Missense_Mutation_p.S21C NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 21 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) TTTCTGGTTTCTGATCCAGAA 0.383000 4 9 0 0 1 0 0 HTR4 3360 broad.mit.edu 37 5 147928298 147928298 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:147928298G>C ENST00000360693.3 - 4 424 c.286C>G c.(286-288)Cgg>Ggg p.R96G HTR4_ENST00000517929.1_Missense_Mutation_p.R96G|HTR4_ENST00000314512.6_Missense_Mutation_p.R96G|HTR4_ENST00000377888.3_Missense_Mutation_p.R96G|HTR4_ENST00000520514.1_Missense_Mutation_p.R96G|HTR4_ENST00000362016.2_Missense_Mutation_p.R96G|HTR4_ENST00000521530.1_Missense_Mutation_p.R96G|HTR4_ENST00000354217.2_Missense_Mutation_p.R96G|HTR4_ENST00000521735.1_Missense_Mutation_p.R96G NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 96 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity p.R96W(3) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AGAGATGTCCGAACAAGACAA 0.502000 6 15 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52523380 52523380 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:52523380G>A ENST00000345716.4 + 17 3276 c.3142G>A c.(3142-3144)Gca>Aca p.A1048T NISCH_ENST00000479054.1_Missense_Mutation_p.A1048T NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1048 Ala/Pro-rich. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GGAGGTCCCAGCAGAGGCTCT 0.627000 13 28 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347691 38347691 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:38347691G>C ENST00000273173.4 + 1 265 c.174G>C c.(172-174)gcG>gcC p.A58A SLC22A14_ENST00000448498.1_Silent_p.A58A NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 58 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TCCTGGATGCGGTGGGGGAGT 0.532000 22 34 0 0 1 0 0 NT5DC3 51559 broad.mit.edu 37 12 104208848 104208848 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:104208848G>A ENST00000392876.3 - 2 300 c.260C>T c.(259-261)tCa>tTa p.S87L NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 87 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 TTCATTGTTTGAGAAAATGGC 0.328000 14 29 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972178 101972178 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:101972178G>C ENST00000543253.1 + 5 3300 c.2381G>C c.(2380-2382)gGa>gCa p.G794A GPRASP2_ENST00000332262.5_Missense_Mutation_p.G794A|GPRASP2_ENST00000535209.1_Missense_Mutation_p.G794A NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 ATAAAAAGTGGAAAGATGTCC 0.313000 5 80 0 0 1 0 0 CCDC94 55702 broad.mit.edu 37 19 4254471 4254471 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:4254471G>A ENST00000262962.7 + 4 458 c.390G>A c.(388-390)ctG>ctA p.L130L NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 130 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) acgaggagCTGAACAACCCCA 0.592000 6 17 0 0 1 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114077230 114077230 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr13:114077230G>A ENST00000356501.4 - 7 901 c.726C>T c.(724-726)ctC>ctT p.L242L ADPRHL1_ENST00000375418.3_Silent_p.L324L NM_199162.1 NP_954631.1 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 324 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 11 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) CTTTGGGAACGAGGTCCAGGC 0.617000 15 32 0 0 1 0 0 SUCLG2 8801 broad.mit.edu 37 3 67546263 67546263 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:67546263G>C ENST00000307227.5 - 9 1048 c.1021C>G c.(1021-1023)Caa>Gaa p.Q341E SUCLG2_ENST00000493112.1_Missense_Mutation_p.Q341E|SUCLG2_ENST00000492795.1_Missense_Mutation_p.Q341E NM_003848.3 NP_003839.2 Q96I99 SUCB2_HUMAN succinate-CoA ligase, GDP-forming, beta subunit 341 succinyl-CoA metabolic process|tricarboxylic acid cycle mitochondrial matrix ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 10 Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121) BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153) Succinic acid(DB00139) TGATATACTTGAGCTTCCTTT 0.438000 3 55 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106186426 106186426 + Silent SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:106186426T>C ENST00000355610.4 - 15 1969 c.1695A>G c.(1693-1695)aaA>aaG p.K565K MORC4_ENST00000255495.7_Silent_p.K565K|MORC4_ENST00000535534.1_Silent_p.K313K NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 565 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 CTAGGATCCATTTGTACTTAC 0.423000 26 9 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1552120 1552120 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:1552120C>T ENST00000262319.6 + 12 1824 c.1545C>T c.(1543-1545)gtC>gtT p.V515V TELO2_ENST00000564507.1_3'UTR NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 515 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CTGCCTACGTCCGGGACTGCG 0.642000 3 39 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95121288 95121288 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr13:95121288C>A ENST00000377028.5 - 2 720 c.307G>T c.(307-309)Ggc>Tgc p.G103C DCT_ENST00000446125.1_Missense_Mutation_p.G103C NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 103 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) CAATTATAGCCGGCAAAGTTT 0.443000 34 73 1.36615e-20 1.51104e-20 1 1 0 PPP1R3B 79660 broad.mit.edu 37 8 8999029 8999029 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr8:8999029C>T ENST00000310455.3 - 2 283 c.133G>A c.(133-135)Gaa>Aaa p.E45K RP11-10A14.3_ENST00000520017.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.E45K NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 45 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) CCACTGGCTTCATTCTTGCTG 0.547000 17 37 0 0 1 0 0 TTC30A 92104 broad.mit.edu 37 2 178482542 178482542 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:178482542C>A ENST00000355689.5 - 1 1152 c.888G>T c.(886-888)atG>atT p.M296I AC073834.3_ENST00000357045.4_RNA NM_152275.3 NP_689488.3 Q86WT1 TT30A_HUMAN tetratricopeptide repeat domain 30A cell projection organization cilium binding autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169) CATCCATGTTCATTAGTGCCT 0.502000 5 160 0.00116845 0.00120703 1 1 0 FANCE 2178 broad.mit.edu 37 6 35426205 35426205 + Silent SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:35426205C>G ENST00000229769.2 + 5 1286 c.1101C>G c.(1099-1101)ctC>ctG p.L367L NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 367 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 CCAGAAGCCTCTTTCTTGGAC 0.572000 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 71 131 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368554 37368554 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:37368554C>T ENST00000361924.2 + 14 5551 c.5177C>T c.(5176-5178)tCc>tTc p.S1726F GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1748F|GOLGA4_ENST00000444882.1_Intron NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1726 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAAGCAGATTCCCAAGGCTGT 0.368000 6 114 0 0 1 0 0 CCNO 10309 broad.mit.edu 37 5 54529236 54529236 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:54529236C>T ENST00000282572.4 - 1 272 c.116G>A c.(115-117)aGg>aAg p.R39K NM_021147.3 NP_066970.3 P22674 CCNO_HUMAN cyclin O 39 cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity nucleoplasm protein kinase binding|uracil DNA N-glycosylase activity endometrium(1)|lung(3)|skin(1) 5 Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183) LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161) CGGCTGCTTCCTCCGGAGGCG 0.721000 9 12 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66448516 66448516 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:66448516C>G ENST00000404260.3 + 25 3664 c.3356C>G c.(3355-3357)tCc>tGc p.S1119C MAST4_ENST00000403666.1_Missense_Mutation_p.S927C|MAST4_ENST00000405643.1_Missense_Mutation_p.S937C|MAST4_ENST00000403625.2_Missense_Mutation_p.S1116C|MAST4_ENST00000261569.7_Missense_Mutation_p.S922C O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1119 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CATTCCCTGTCCTCGGACCCT 0.522000 5 125 0 0 1 0 0 AGXT 189 broad.mit.edu 37 2 241808420 241808420 + Silent SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:241808420C>A ENST00000307503.3 + 1 525 c.138C>A c.(136-138)atC>atA p.I46I NM_000030.2 NP_000021.1 P21549 SPYA_HUMAN alanine-glyoxylate aminotransferase 46 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TGCAGATGATCGGGTCCATGA 0.642000 12 34 9.31168e-06 9.75721e-06 1 1 0 PLXNB1 5364 broad.mit.edu 37 3 48457566 48457566 + Missense_Mutation SNP A A T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:48457566A>T ENST00000358536.4 - 18 3760 c.3491T>A c.(3490-3492)gTc>gAc p.V1164D PLXNB1_ENST00000456774.1_Missense_Mutation_p.V981D|PLXNB1_ENST00000296440.6_Missense_Mutation_p.V1164D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.V981D|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1164 IPT/TIG 2. 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) GATGGAATGGACCTTCGGATC 0.642000 3 7 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72987257 72987257 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:72987257G>A ENST00000305632.5 - 5 883 c.642C>T c.(640-642)atC>atT p.I214I TBL2_ENST00000452475.1_Silent_p.I214I|TBL2_ENST00000432538.1_Silent_p.I178I|TBL2_ENST00000459913.1_5'UTR NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 214 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) TCAGGCTCCAGATGAGGACAG 0.552000 4 25 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42641590 42641590 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:42641590C>T ENST00000372899.1 + 37 4406 c.4148C>T c.(4147-4149)tCa>tTa p.S1383L UBR2_ENST00000372901.1_Missense_Mutation_p.S1383L|UBR2_ENST00000372883.3_3'UTR NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1383 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) GCATCAGTTTCAGTGGTGCAA 0.338000 17 34 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 78128693 78128693 + Splice_Site SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr11:78128693T>C ENST00000361507.4 - 1 159 c.74A>G c.(73-75)tAt>tGt p.Y25C GAB2_ENST00000526030.1_5'UTR|RP11-452H21.1_ENST00000534168.1_RNA NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 25 PH. osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) cgcACTCACATAGCGCCTCAA 0.781000 2 2 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47685289 47685289 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:47685289G>A ENST00000393331.3 - 9 1131 c.661C>T c.(661-663)Cgt>Tgt p.R221C SPOP_ENST00000504102.1_Missense_Mutation_p.R221C|SPOP_ENST00000347630.2_Missense_Mutation_p.R221C|SPOP_ENST00000393328.2_Missense_Mutation_p.R221C|SPOP_ENST00000503676.1_Missense_Mutation_p.R221C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 221 BTB. mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 ACCGGAGAACGAGCTACAAAG 0.403000 Prostate(2;0.17) 41 80 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21603978 21603978 + Missense_Mutation SNP T T G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:21603978T>G ENST00000328843.6 + 6 1188 c.1157T>G c.(1156-1158)gTt>gGt p.V386G DNAH11_ENST00000409508.3_Missense_Mutation_p.V386G Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 386 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CGGGTTATAGTTTTATTGCAA 0.378000 Kartagener syndrome 13 37 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6645750 6645750 + Silent SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:6645750C>G ENST00000229239.5 + 3 786 c.120C>G c.(118-120)ctC>ctG p.L40L GAPDH_ENST00000396859.1_Silent_p.L40L|GAPDH_ENST00000396861.1_Silent_p.L40L|GAPDH_ENST00000396858.1_5'UTR|GAPDH_ENST00000396856.1_5'UTR NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 40 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) TCATTGACCTCAACTACATGG 0.532000 3 86 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41605777 41605777 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr22:41605777G>C ENST00000216237.5 + 2 260 c.102G>C c.(100-102)cgG>cgC p.R34R RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 34 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 ATAGTTTCCGGAGTTATAACA 0.512000 3 74 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66286281 66286281 + Missense_Mutation SNP G G T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:66286281G>T ENST00000273854.3 - 6 2005 c.1405C>A c.(1405-1407)Cca>Aca p.P469T EPHA5_ENST00000354839.4_Missense_Mutation_p.P469T|EPHA5_ENST00000511294.1_Missense_Mutation_p.P469T|EPHA5_ENST00000432638.2_Missense_Mutation_p.P305T NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 469 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ACTGGAGATGGAGCTGCAAAA 0.368000 TSP Lung(17;0.13) 4 24 0.184627 0.185474 1 1 0 OR5M10 390167 broad.mit.edu 37 11 56344620 56344620 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr11:56344620C>G ENST00000526812.2 - 1 643 c.578G>C c.(577-579)cGt>cCt p.R193P NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 CTTTTTGACACGGGTGTCAGA 0.443000 23 35 0 0 1 0 0 PPARG 5468 broad.mit.edu 37 3 12475550 12475550 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:12475550C>T ENST00000397026.2 + 9 1741 c.1358C>T c.(1357-1359)aCg>aTg p.T453M PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 475 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CAGATTGTCACGGAACACGTG 0.527000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 18 40 0 0 1 0 0 SLC39A14 23516 broad.mit.edu 37 8 22275164 22275164 + Splice_Site SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr8:22275164G>A ENST00000381237.1 + 8 1267 c.1148G>A c.(1147-1149)gGa>gAa p.G383E SLC39A14_ENST00000289952.5_Splice_Site_p.G383E|SLC39A14_ENST00000240095.6_Splice_Site_p.G383E|SLC39A14_ENST00000359741.5_Splice_Site_p.G383E NM_001128431.2 NP_001121903.1 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), member 14 383 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GCTGCTGTAGGAGACTTTGTC 0.537000 17 37 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31647768 31647768 + Nonsense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:31647768C>G ENST00000375494.3 + 4 458 c.458C>G c.(457-459)tCa>tGa p.S153* NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 153 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding GCCGTGAGCTCAAGGGGCACA 0.642000 20 33 0 0 1 0 0 KAT8 84148 broad.mit.edu 37 16 31131791 31131791 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:31131791C>T ENST00000543774.2 + 4 753 c.418C>T c.(418-420)Cgc>Tgc p.R140C KAT8_ENST00000219797.4_Missense_Mutation_p.R140C|KAT8_ENST00000448516.2_Missense_Mutation_p.R140C Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 140 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding CAAGATCACTCGCAACCAAAA 0.577000 15 22 0 0 1 0 0 NIPA2 81614 broad.mit.edu 37 15 23019854 23019854 + Nonsense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr15:23019854G>A ENST00000337451.3 - 5 754 c.142C>T c.(142-144)Caa>Taa p.Q48* NIPA2_ENST00000539711.2_Intron|NIPA2_ENST00000359727.4_Intron|NIPA2_ENST00000398014.2_Nonsense_Mutation_p.Q48*|NIPA2_ENST00000398013.3_Nonsense_Mutation_p.Q48* NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 48 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) TGGCCACCTTGACCTGTGAAT 0.323000 17 34 0 0 1 0 0 RAB4B-EGLN2 100529264 broad.mit.edu 37 19 41292605 41292605 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:41292605G>A ENST00000594136.1 + 6 571 c.466G>A c.(466-468)Gag>Aag p.E156K RAB4B-EGLN2_ENST00000601949.1_3'UTR|RAB4B_ENST00000602069.1_3'UTR|RAB4B_ENST00000357052.2_Missense_Mutation_p.E156K|RAB4B_ENST00000594800.1_Missense_Mutation_p.E156K TCTCACAGGCGAGAACGTGGA 0.632000 10 22 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22056206 22056206 + Nonsense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:22056206G>A ENST00000308271.9 - 10 1939 c.1291C>T c.(1291-1293)Caa>Taa p.Q431* USP48_ENST00000400301.1_Nonsense_Mutation_p.Q431*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q430*|USP48_ENST00000421625.2_Nonsense_Mutation_p.Q431* NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 431 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CCTGGAACTTGAACAGTAGTG 0.373000 28 72 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103575 2103575 + Silent SNP C C T rs113412246 byFrequency TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:2103575C>T ENST00000400921.2 + 9 1277 c.594C>T c.(592-594)aaC>aaT p.N198N PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.N198N NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 381 K -> R (in Ref. 3; BAF83684). anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) AGCTGGACAACGTCCTCCTGG 0.622000 9 29 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117578406 117578406 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:117578406G>A ENST00000254029.3 + 19 2991 c.2596G>A c.(2596-2598)Gaa>Aaa p.E866K WDR44_ENST00000371825.3_Missense_Mutation_p.E858K|WDR44_ENST00000371822.5_Missense_Mutation_p.E777K NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 866 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 TGAAAAATCAGAAGGGAACGA 0.388000 7 47 0 0 1 0 0 HIGD2A 192286 broad.mit.edu 37 5 175816396 175816396 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:175816396G>A ENST00000274787.2 + 2 292 c.219G>A c.(217-219)caG>caA p.Q73Q NM_138820.2 NP_620175.1 Q9BW72 HIG2A_HUMAN HIG1 hypoxia inducible domain family, member 2A 73 HIG1. integral to membrane large_intestine(1) 1 all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.0965) GCAACAGCCAGCGCTCTCAGC 0.637000 6 122 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3779690 3779690 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:3779690C>A ENST00000381771.2 - 11 1084 c.937G>T c.(937-939)Gac>Tac p.D313Y CAMKK1_ENST00000381769.2_Missense_Mutation_p.D302Y|CAMKK1_ENST00000348335.2_Missense_Mutation_p.D275Y|CAMKK1_ENST00000158166.5_Missense_Mutation_p.D313Y Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 275 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) GGCTTGATGTCCCTGTGGACG 0.622000 22 46 7.92952e-12 8.51258e-12 1 1 0 SLC26A10 65012 broad.mit.edu 37 12 58019211 58019211 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:58019211G>A ENST00000320442.4 + 13 1803 c.1492G>A c.(1492-1494)Gat>Aat p.D498N SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR NM_133489.2 NP_597996.2 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 498 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) CCGATGTCGAGATGCTAGGAT 0.582000 13 37 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62324557 62324557 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:62324557G>C ENST00000318100.4 + 30 3740 c.2913G>C c.(2911-2913)ctG>ctC p.L971L RTEL1_ENST00000508582.2_Silent_p.L995L|RTEL1_ENST00000370018.3_Silent_p.L971L|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.L971L|RTEL1_ENST00000360203.5_Silent_p.L971L|RTEL1_ENST00000370003.1_Silent_p.L216L NM_001283009.1 NP_001269938.1 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 971 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GTATCCAGCTGACAGGACGAG 0.617000 41 46 0 0 1 0 0 NSF 4905 broad.mit.edu 37 17 44791224 44791224 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:44791224C>T ENST00000398238.4 + 15 1740 c.1633C>T c.(1633-1635)Cct>Tct p.P545S NSF_ENST00000575068.1_Missense_Mutation_p.P540S|NSF_ENST00000225282.8_Missense_Mutation_p.P451S NM_006178.3 NP_006169.2 P46459 NSF_HUMAN N-ethylmaleimide-sensitive factor 545 protein transport|synaptic transmission cytosol ATP binding|metal ion binding kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) TGCAGGCCCTCCTCACAGTGG 0.408000 6 19 0 0 1 0 0 ZNF329 79673 broad.mit.edu 37 19 58640856 58640856 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:58640856C>A ENST00000598312.1 - 4 248 c.15G>T c.(13-15)atG>atT p.M5I ZNF329_ENST00000358067.4_Missense_Mutation_p.M5I NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TCCGAGTCGTCATTTTCAATC 0.408000 5 140 0.184627 0.185474 1 1 0 IL37 27178 broad.mit.edu 37 2 113676357 113676357 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:113676357G>A ENST00000263326.3 + 5 670 c.628G>A c.(628-630)Gaa>Aaa p.E210K IL37_ENST00000352179.3_Missense_Mutation_p.E189K|IL37_ENST00000349806.3_Missense_Mutation_p.E149K|IL37_ENST00000353225.3_Missense_Mutation_p.E170K|IL37_ENST00000311328.2_Missense_Mutation_p.E184K NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 210 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TTGCAAAGCTGAAATGAGCCC 0.423000 13 39 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132235271 132235271 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:132235271C>T ENST00000260818.6 + 47 5739 c.5491C>T c.(5491-5493)Cag>Tag p.Q1831* NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1831 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGCAGGTCGTCAGCTTGTTCT 0.393000 13 36 0 0 1 0 0 SCML1 6322 broad.mit.edu 37 X 17763599 17763599 + Nonsense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:17763599C>A ENST00000380041.3 + 3 385 c.57C>A c.(55-57)taC>taA p.Y19* SCML1_ENST00000380043.3_Intron|SCML1_ENST00000380045.3_Intron|SCML1_ENST00000398080.1_Intron NM_001037540.1 NP_001032629.1 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 19 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) TACCTACTTACGATGAAGATG 0.289000 8 6 3.09899e-07 3.26287e-07 1 1 0 RGMA 56963 broad.mit.edu 37 15 93595604 93595604 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr15:93595604C>T ENST00000329082.7 - 3 535 c.264G>A c.(262-264)cgG>cgA p.R88R RGMA_ENST00000425933.2_Silent_p.R72R|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000556087.1_Silent_p.R72R|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000543599.1_Silent_p.R72R|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000557301.1_Silent_p.R96R|RGMA_ENST00000542321.2_Silent_p.R72R NM_020211.2 NP_064596 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 88 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) TGCGGGCCGTCCGCCGCGTGC 0.682000 12 8 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155026830 155026830 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:155026830G>C ENST00000356955.2 + 6 561 c.460G>C c.(460-462)Gag>Cag p.E154Q ADAM15_ENST00000271836.6_Missense_Mutation_p.E154Q|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.E164Q|ADAM15_ENST00000359280.4_Missense_Mutation_p.E154Q|ADAM15_ENST00000368412.3_Missense_Mutation_p.E154Q|ADAM15_ENST00000449910.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.E154Q|ADAM15_ENST00000447332.3_Missense_Mutation_p.E138Q NM_207197.2 NP_997080.1 Q13444 ADA15_HUMAN ADAM metallopeptidase domain 15 154 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) CTATACCCTGGAGCAGGGGCC 0.547000 38 74 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47571870 47571870 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:47571870G>A ENST00000334194.3 + 9 1141 c.1138G>A c.(1138-1140)Gta>Ata p.V380I CYP4A22-AS1_ENST00000444042.2_lincRNA NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 380 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 CGCACCGGTAGTAAACATATC 0.473000 6 77 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34459715 34459715 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:34459715C>T ENST00000374012.3 + 9 1375 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 416 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) ACCGACTTCTCCCCTTGTGGA 0.423000 34 70 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298882 37298882 + Missense_Mutation SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:37298882T>C ENST00000310758.4 - 6 964 c.317A>G c.(316-318)gAc>gGc p.D106G ELMO1_ENST00000448602.1_Missense_Mutation_p.D106G|ELMO1_ENST00000442504.1_Missense_Mutation_p.D106G NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 106 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GCTGGCCAAGTCCTTCAGGGC 0.552000 14 36 0 0 1 0 0 FXR2 9513 broad.mit.edu 37 17 7496403 7496403 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:7496403C>T ENST00000250113.7 - 13 1761 c.1427G>A c.(1426-1428)cGa>cAa p.R476Q NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 476 cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) TTCTTCCCCTCGGGTTGGGGG 0.627000 10 10 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37898867 37898867 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:37898867C>T ENST00000309156.4 + 3 461 c.204C>T c.(202-204)ccC>ccT p.P68P GRB7_ENST00000394211.3_Silent_p.P68P|GRB7_ENST00000445327.2_Silent_p.P91P|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Silent_p.P68P|GRB7_ENST00000394209.2_Silent_p.P68P|GRB7_ENST00000394204.1_Silent_p.P68P NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 68 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|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) CCTCTATCCCCAACCCCTTCC 0.652000 4 89 0 0 1 0 0 CENPI 2491 broad.mit.edu 37 X 100364525 100364525 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:100364525C>G ENST00000372927.1 + 4 705 c.428C>G c.(427-429)tCt>tGt p.S143C CENPI_ENST00000218507.5_Missense_Mutation_p.S143C|CENPI_ENST00000423383.1_Missense_Mutation_p.S143C|CENPI_ENST00000372926.1_Missense_Mutation_p.S143C NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 143 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding p.S143Y(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 TCAGAAGATTCTGTGGTTAAG 0.393000 5 131 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683704 100683704 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:100683704G>A ENST00000306151.4 + 3 9071 c.9007G>A c.(9007-9009)Gag>Aag p.E3003K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3003 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.E3003Q(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCAGTTCTGAGGCTAGCAC 0.512000 6 324 0 0 1 0 0 ZFYVE21 79038 broad.mit.edu 37 14 104194185 104194185 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr14:104194185G>C ENST00000216602.6 + 3 404 c.292G>C c.(292-294)Gag>Cag p.E98Q ZFYVE21_ENST00000311141.2_Missense_Mutation_p.E98Q NM_001198953.1 NP_001185882.1 Q9BQ24 ZFY21_HUMAN zinc finger, FYVE domain containing 21 98 cytoplasmic membrane-bounded vesicle|focal adhesion metal ion binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2) 8 Melanoma(154;0.226) Epithelial(152;0.245) GCAGTGCGCGGAGTGCGCCCT 0.662000 20 30 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55948763 55948763 + Silent SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:55948763C>G ENST00000263923.4 - 28 3997 c.3702G>C c.(3700-3702)gtG>gtC p.V1234V RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1234 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTTTTACACTCACAGGCCGGC 0.353000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 19 56 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8738745 8738745 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:8738745C>A ENST00000311434.9 - 8 729 c.490G>T c.(490-492)Gtg>Ttg p.V164L PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 164 platelet activation cytosol GACGCAGACACCAGCTCAGGA 0.617000 12 26 0.105934 0.107905 1 1 0 MAGI1 9223 broad.mit.edu 37 3 65361561 65361561 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:65361561C>T ENST00000330909.8 - 19 3138 c.3139G>A c.(3139-3141)Gac>Aac p.D1047N MAGI1_ENST00000402939.2_Missense_Mutation_p.D1019N|MAGI1_ENST00000483466.1_Missense_Mutation_p.D1048N|MAGI1_ENST00000497477.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1048 Interaction with FCHSD2.|PDZ 5. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCACAGCGGTCAGCAGGGCTC 0.438000 3 50 0 0 1 0 0 GATA3-AS1 399717 broad.mit.edu 37 10 8092767 8092767 + RNA SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr10:8092767C>G ENST00000355358.1 - 0 1859 NR_024256.1 TAAACACGCTCAAATGACCGC 0.582000 5 13 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217236 26217236 + Silent SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:26217236C>A ENST00000303910.2 + 1 72 c.34C>A c.(34-36)Cgg>Agg p.R12R NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 12 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) CGGCAAAGCTCGGGCAAAAGC 0.527000 13 30 1.49906e-05 1.5633e-05 1 1 0 CCDC47 57003 broad.mit.edu 37 17 61838298 61838298 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:61838298C>T ENST00000225726.5 - 6 1093 c.711G>A c.(709-711)atG>atA p.M237I CCDC47_ENST00000403162.3_Missense_Mutation_p.M237I|CCDC47_ENST00000582252.1_Missense_Mutation_p.M237I NM_020198.2 NP_064583.2 Q96A33 CCD47_HUMAN coiled-coil domain containing 47 237 integral to membrane protein binding endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 18 CTGGCCTCATCATCCGGGCCA 0.353000 10 18 0 0 1 0 0 SH3GL1 6455 broad.mit.edu 37 19 4361657 4361657 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:4361657G>C ENST00000269886.3 - 10 1225 c.1047C>G c.(1045-1047)gaC>gaG p.D349E SH3GL1_ENST00000598564.1_Missense_Mutation_p.D285E|SH3GL1_ENST00000417295.2_Missense_Mutation_p.D301E NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 349 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCGACTGGCCGTCCAGCATGC 0.657000 T MLL AL 3 32 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38320417 38320417 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:38320417G>A ENST00000264645.7 + 7 1695 c.1469G>A c.(1468-1470)cGa>cAa p.R490Q NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 490 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 CGGGAACTTCGAGGTAGGTAT 0.483000 7 13 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230724018 230724018 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:230724018G>C ENST00000283943.5 - 3 549 c.371C>G c.(370-372)tCt>tGt p.S124C TRIP12_ENST00000409677.1_Missense_Mutation_p.S166C|TRIP12_ENST00000543084.1_Missense_Mutation_p.S166C|TRIP12_ENST00000389044.4_Missense_Mutation_p.S166C|TRIP12_ENST00000389045.3_Intron NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 124 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGATTGTGCAGATTTCAGTTG 0.438000 26 77 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222551 140222551 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:140222551G>A ENST00000531613.1 + 1 1645 c.1645G>A c.(1645-1647)Gtg>Atg p.V549M PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V549M|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCAGCAACGTGACGCTGCA 0.687000 8 138 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3779703 3779703 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:3779703C>G ENST00000381771.2 - 11 1071 c.924G>C c.(922-924)aaG>aaC p.K308N CAMKK1_ENST00000381769.2_Missense_Mutation_p.K297N|CAMKK1_ENST00000348335.2_Missense_Mutation_p.K270N|CAMKK1_ENST00000158166.5_Missense_Mutation_p.K308N Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 270 Protein kinase. synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) TGTGGACGATCTTCTGGCAGT 0.632000 19 38 0 0 1 0 0 C21orf59 56683 broad.mit.edu 37 21 33976579 33976579 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr21:33976579G>A ENST00000382549.4 - 4 732 c.390C>T c.(388-390)gcC>gcT p.A130A C21orf59_ENST00000290155.3_Silent_p.A130A|C21orf59_ENST00000540881.1_Silent_p.A74A|AP000275.65_ENST00000553001.1_Silent_p.A130A P57076 CU059_HUMAN chromosome 21 open reading frame 59 130 cytosol|nucleus endometrium(2)|large_intestine(1)|prostate(1)|skin(1) 5 CACAGACACCGGCTTCCACTT 0.488000 4 49 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93588794 93588794 + Nonsense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr15:93588794C>A ENST00000329082.7 - 4 1058 c.787G>T c.(787-789)Gag>Tag p.E263* RGMA_ENST00000425933.2_Nonsense_Mutation_p.E247*|RGMA_ENST00000538818.1_Nonsense_Mutation_p.E154*|RGMA_ENST00000556658.1_Nonsense_Mutation_p.E154*|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Nonsense_Mutation_p.E247*|RGMA_ENST00000557301.1_Nonsense_Mutation_p.E271*|RGMA_ENST00000542321.2_Nonsense_Mutation_p.E247* NM_020211.2 NP_064596 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 263 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) GACACCTTCTCAGTGATCTTC 0.622000 10 26 9.70103e-10 1.03635e-09 1 1 0 ADCK3 56997 broad.mit.edu 37 1 227173038 227173038 + Silent SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:227173038C>G ENST00000366779.1 + 19 4427 c.1656C>G c.(1654-1656)gtC>gtG p.V552V ADCK3_ENST00000433743.2_Silent_p.V226V|ADCK3_ENST00000458507.2_Silent_p.V273V|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Silent_p.V552V|ADCK3_ENST00000366778.1_Silent_p.V500V Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 552 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 GCTACGAGGTCAAGGTGAGCA 0.627000 37 58 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466686 56466686 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:56466686C>G ENST00000291971.3 + 3 1333 c.1262C>G c.(1261-1263)cCa>cGa p.P421R NLRP8_ENST00000590542.1_Missense_Mutation_p.P421R NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 421 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CAGTCATGTCCAAATGCCACC 0.488000 3 68 0 0 1 0 0 EPHA4 2043 broad.mit.edu 37 2 222298867 222298867 + Nonsense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:222298867G>A ENST00000281821.2 - 14 2532 c.2491C>T c.(2491-2493)Caa>Taa p.Q831* EPHA4_ENST00000392071.4_Nonsense_Mutation_p.Q780*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.Q831*|EPHA4_ENST00000409938.1_Nonsense_Mutation_p.Q831* NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 831 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTTACATCTTGATTGGACATA 0.408000 9 30 0 0 1 0 0 VPS11 55823 broad.mit.edu 37 11 118948933 118948933 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr11:118948933G>A ENST00000300793.6 + 12 1851 c.1809G>A c.(1807-1809)ctG>ctA p.L603L VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 604 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) CGCGAGAGCTGAAAGCCTTCC 0.542000 7 220 0 0 1 0 0 NOD2 64127 broad.mit.edu 37 16 50745099 50745099 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:50745099G>A ENST00000300589.2 + 4 1382 c.1277G>A c.(1276-1278)cGt>cAt p.R426H NM_022162.1 NP_071445.1 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain containing 2 426 NACHT. activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|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 cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3) 52 all_cancers(37;0.0156) GTGACCAGCCGTCCGGCCGCT 0.622000 7 38 0 0 1 0 0 QARS 5859 broad.mit.edu 37 3 49135810 49135810 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:49135810C>T ENST00000306125.6 - 21 2397 c.2060G>A c.(2059-2061)tGt>tAt p.C687Y QARS_ENST00000414533.1_Missense_Mutation_p.C676Y P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 687 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GCGAACCTCACACATCAAAGG 0.562000 34 57 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200136952 200136952 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:200136952G>A ENST00000443023.1 - 10 3472 c.2007C>T c.(2005-2007)gcC>gcT p.A669A SATB2_ENST00000417098.1_Silent_p.A728A|SATB2_ENST00000260926.5_Silent_p.A728A|SATB2_ENST00000457245.1_Silent_p.A728A|SATB2_ENST00000428695.1_Silent_p.A610A Q9UPW6 SATB2_HUMAN SATB homeobox 2 728 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGTCAATTTCGGCAGGTGCTG 0.443000 4 92 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 18 36 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325287 47325287 + RNA SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:47325287T>C ENST00000505841.1 - 0 1204 NR_002788.2 AATCCAAACATAGCTGCATTG 0.388000 3 49 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2103551 2103551 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:2103551C>G ENST00000400921.2 + 9 1253 c.570C>G c.(568-570)atC>atG p.I190M PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Missense_Mutation_p.I190M NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 373 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GGGGGATCATCTACAGGGACC 0.627000 9 25 0 0 1 0 0 CSNK1D 1453 broad.mit.edu 37 17 80210377 80210377 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:80210377C>T ENST00000314028.6 - 5 1018 c.669G>A c.(667-669)caG>caA p.Q223Q CSNK1D_ENST00000392334.2_Silent_p.Q223Q|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.Q223Q NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 223 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) TTTCGTATTTCTGTCTCTTGG 0.522000 49 50 0 0 1 0 0 MED23 9439 broad.mit.edu 37 6 131917800 131917800 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:131917800G>A ENST00000403834.3 - 21 2827 c.2654C>T c.(2653-2655)gCc>gTc p.A885V MED23_ENST00000354577.4_Missense_Mutation_p.A885V|MED23_ENST00000368068.3_Missense_Mutation_p.A879V|MED23_ENST00000368060.3_Missense_Mutation_p.A879V|MED23_ENST00000545957.1_Missense_Mutation_p.A520V|MED23_ENST00000368058.1_Missense_Mutation_p.A885V Q9ULK4 MED23_HUMAN mediator complex subunit 23 879 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) ACAAACCTGGGCTTCATTTCC 0.383000 4 46 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66286280 66286280 + Missense_Mutation SNP G G T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:66286280G>T ENST00000273854.3 - 6 2006 c.1406C>A c.(1405-1407)cCa>cAa p.P469Q EPHA5_ENST00000354839.4_Missense_Mutation_p.P469Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.P469Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.P305Q NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 469 Fibronectin type-III 2. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GACTGGAGATGGAGCTGCAAA 0.368000 TSP Lung(17;0.13) 4 23 0.184627 0.185474 1 1 0 ADAMTS14 140766 broad.mit.edu 37 10 72434641 72434641 + Nonsense_Mutation SNP G G T rs144062605 by1000genomes TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr10:72434641G>T ENST00000373208.1 + 2 412 c.412G>T c.(412-414)Gag>Tag p.E138* ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.E138* NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 138 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GGAGTGGCAGGAGGATTTTCG 0.577000 15 17 0.00316338 0.00325249 1 1 0 BAGE2 85319 broad.mit.edu 37 21 11039343 11039343 + RNA SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr21:11039343C>T ENST00000470054.1 - 0 860 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ATTTGATCTTCGCCACAAATA 0.383000 12 243 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50918166 50918166 + Missense_Mutation SNP A A G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr18:50918166A>G ENST00000442544.2 + 17 3213 c.2597A>G c.(2596-2598)gAc>gGc p.D866G DCC_ENST00000412726.1_Missense_Mutation_p.D694G|DCC_ENST00000581580.1_Missense_Mutation_p.D501G NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 866 Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGCTGGGCAGACAACTCTGTC 0.542000 5 41 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24413161 24413161 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:24413161C>T ENST00000330966.7 - 15 1936 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K MYOM3_ENST00000329601.7_Missense_Mutation_p.E591K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E591K|MYOM3_ENST00000475306.1_5'UTR|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 591 Fibronectin type-III 2. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GCGATGGGTTCGCTGGGCTCC 0.632000 5 48 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77742607 77742607 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr13:77742607C>G ENST00000407578.2 - 40 6336 c.6070G>C c.(6070-6072)Gag>Cag p.E2024Q MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1986Q|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1986Q NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1986 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TGCTCACTCTCTATGACAGCA 0.493000 31 46 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7303257 7303257 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:7303257G>A ENST00000537408.1 + 14 2937 c.2399G>A c.(2398-2400)cGt>cAt p.R800H CLSTN3_ENST00000266546.6_Missense_Mutation_p.R788H Q9BQT9 CSTN3_HUMAN calsyntenin 3 788 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ATGAATGGCCGTTACTCCAGC 0.542000 4 62 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2487194 2487194 + Silent SNP C C T rs148977637 TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:2487194C>T ENST00000397066.4 + 5 499 c.411C>T c.(409-411)ctC>ctT p.L137L NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 137 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) TCTTCAGTCTCGCTGAGCGGC 0.612000 6 68 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39552953 39552953 + Splice_Site SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:39552953C>T ENST00000263881.3 - 11 1050 c.e11-1 MAP4K3_ENST00000341681.5_Splice_Site|MAP4K3_ENST00000536018.1_Splice_Site|MAP4K3_ENST00000437545.1_Splice_Site NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 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) ACTATTTGACCTAAGAAATTT 0.274000 9 31 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226447597 226447597 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:226447597C>T ENST00000272907.6 + 4 1877 c.1464C>T c.(1462-1464)gtC>gtT p.V488V NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 488 CCAAGATGGTCAACGCCGCGG 0.677000 8 25 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150935045 150935045 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:150935045G>A ENST00000035307.2 + 4 3110 c.1597G>A c.(1597-1599)Gaa>Aaa p.E533K CHPF2_ENST00000495645.1_Missense_Mutation_p.E525K NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 533 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 CGGGCCACGAGAAGGTGGCCG 0.627000 17 42 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833308 23833308 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:23833308C>T ENST00000264867.2 - 3 420 c.301G>A c.(301-303)Gtg>Atg p.V101M PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 101 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) TCTTCATCCACAGGGAGACTG 0.493000 9 320 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67293551 67293551 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:67293551G>C ENST00000371026.3 - 14 2111 c.2056C>G c.(2056-2058)Cac>Gac p.H686D RP11-342H21.2_ENST00000456389.1_RNA|WDR78_ENST00000431318.1_Intron NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 686 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GAACATTTGTGAATATGACCT 0.313000 18 173 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93588668 93588668 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr15:93588668C>T ENST00000329082.7 - 4 1184 c.913G>A c.(913-915)Gag>Aag p.E305K RGMA_ENST00000425933.2_Missense_Mutation_p.E289K|RGMA_ENST00000538818.1_Missense_Mutation_p.E196K|RGMA_ENST00000556658.1_Missense_Mutation_p.E196K|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000543599.1_Missense_Mutation_p.E289K|RGMA_ENST00000557301.1_Missense_Mutation_p.E313K|RGMA_ENST00000542321.2_Missense_Mutation_p.E289K NM_020211.2 NP_064596 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 305 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) TCCCAGTCCTCCACAGCATTG 0.637000 4 16 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125621070 125621070 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr9:125621070C>G ENST00000373670.1 - 11 2761 c.2161G>C c.(2161-2163)Gat>Cat p.D721H RC3H2_ENST00000423239.2_Missense_Mutation_p.D721H|RC3H2_ENST00000357244.2_Missense_Mutation_p.D721H Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 721 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TGCATCACATCCATTGGAGGT 0.453000 19 30 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47817295 47817295 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr21:47817295G>A ENST00000359568.5 + 22 4440 c.4333G>A c.(4333-4335)Gaa>Aaa p.E1445K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 1445 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TGAGTTAGAAGAACAGCTGTC 0.577000 23 29 0 0 1 0 0 FUT1 2523 broad.mit.edu 37 19 49253609 49253609 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:49253609G>A ENST00000310160.3 - 4 1904 c.930C>T c.(928-930)ttC>ttT p.F310F NM_000148.3 NP_000139.1 P19526 FUT1_HUMAN fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 310 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 17 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) CCCAGAAGCCGAAGGTGCCAA 0.572000 17 36 0 0 1 0 0 MROH7-TTC4 100527960 broad.mit.edu 37 1 55118794 55118794 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:55118794G>C ENST00000414150.2 + 3 473 c.195G>C c.(193-195)ttG>ttC p.L65F MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.L65F|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.L65F|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.L65F ATGATTCTTTGAGTCCAGTCT 0.557000 18 47 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25978935 25978935 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:25978935C>T ENST00000435504.4 - 10 1281 c.988G>A c.(988-990)Gaa>Aaa p.E330K ASXL2_ENST00000272341.4_Missense_Mutation_p.E70K|ASXL2_ENST00000404843.1_Missense_Mutation_p.E70K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E302K Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.E70Q(1)|p.E330Q(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAAGAATTCATTGTTAAGG 0.448000 27 35 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61526407 61526407 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:61526407C>T ENST00000266070.4 - 9 2650 c.2325G>A c.(2323-2325)gcG>gcA p.A775A DIDO1_ENST00000395340.1_Silent_p.A775A|DIDO1_ENST00000395343.1_Silent_p.A775A|DIDO1_ENST00000395335.2_Silent_p.A775A NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 775 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TCACAGATCTCGCTGGCCTCT 0.488000 6 230 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13206063 13206063 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:13206063G>A ENST00000379350.1 + 7 810 c.681G>A c.(679-681)gtG>gtA p.V227V PHACTR1_ENST00000332995.7_Silent_p.V227V|PHACTR1_ENST00000457702.2_Silent_p.V82V|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 227 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GCGCCCCTGTGAAATTGCCTT 0.562000 17 38 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19606875 19606875 + Missense_Mutation SNP A A G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:19606875A>G ENST00000397821.3 - 12 1474 c.1184T>C c.(1183-1185)gTt>gCt p.V395A SH3KBP1_ENST00000379698.4_Missense_Mutation_p.V358A|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.V157A|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.V134A|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.V439A NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 395 Pro-rich. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TATGGCAGGAACGGAGGGCTT 0.502000 6 79 0 0 1 0 0 PI4KA 5297 broad.mit.edu 37 22 21156327 21156327 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr22:21156327G>A ENST00000255882.6 - 14 1744 c.1658C>T c.(1657-1659)tCg>tTg p.S553L PI4KA_ENST00000572273.1_Missense_Mutation_p.S495L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 495 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) CTTCTTACCCGACATGACGTT 0.463000 13 46 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31598376 31598376 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:31598376C>T ENST00000376033.2 + 15 2497 c.2263C>T c.(2263-2265)Ccc>Tcc p.P755S PRRC2A_ENST00000376007.4_Missense_Mutation_p.P755S NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 755 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AGGCCTAGTTCCCCGAGAGCG 0.522000 12 30 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119297190 119297190 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:119297190G>C ENST00000338891.7 - 12 2918 c.2475C>G c.(2473-2475)ctC>ctG p.L825L FAM184A_ENST00000368475.4_Silent_p.L705L|FAM184A_ENST00000352896.5_Silent_p.L705L|FAM184A_ENST00000521531.1_Silent_p.L825L|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 825 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 GTTGATGGTTGAGTTCTGAGC 0.338000 19 30 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79164521 79164521 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:79164521C>T ENST00000269392.4 - 24 3281 c.3034G>A c.(3034-3036)Gag>Aag p.E1012K AZI1_ENST00000450824.2_Missense_Mutation_p.E1009K|AZI1_ENST00000575907.1_Missense_Mutation_p.E976K|AZI1_ENST00000374782.3_Missense_Mutation_p.E973K NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 1012 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) GTCTCCTCCTCAGAGGCTGCC 0.706000 8 8 0 0 1 0 0 HIP1 3092 broad.mit.edu 37 7 75182856 75182856 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:75182856C>T ENST00000336926.6 - 22 2217 c.2191G>A c.(2191-2193)Gaa>Aaa p.E731K HIP1_ENST00000434438.2_Missense_Mutation_p.E731K NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 731 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 GCGAGGGTTTCCCTGCCATAC 0.552000 T PDGFRB CMML 11 36 0 0 1 0 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420336 69420336 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr9:69420336C>T ENST00000357336.3 + 13 1507 c.1226C>T c.(1225-1227)tCt>tTt p.S409F NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 409 breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 AGTACATCTTCTGCTGCTGCT 0.333000 26 49 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 9 11 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676221 113676221 + Nonsense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:113676221G>A ENST00000263326.3 + 5 534 c.492G>A c.(490-492)tgG>tgA p.W164* IL37_ENST00000352179.3_Nonsense_Mutation_p.W143*|IL37_ENST00000349806.3_Nonsense_Mutation_p.W103*|IL37_ENST00000353225.3_Nonsense_Mutation_p.W124*|IL37_ENST00000311328.2_Nonsense_Mutation_p.W138* NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 164 W -> R (in dbSNP:rs2708947). immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TGGGCTCCTGGAACATGCTGG 0.522000 16 39 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137284588 137284588 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:137284588G>C ENST00000453654.2 - 11 870 c.331C>G c.(331-333)Cag>Gag p.Q111E DGKI_ENST00000446122.1_Missense_Mutation_p.Q411E|DGKI_ENST00000424189.2_Missense_Mutation_p.Q411E|DGKI_ENST00000288490.5_Missense_Mutation_p.Q411E O75912 DGKI_HUMAN diacylglycerol kinase, iota activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GGCCCTTCCTGAGAAAGATCA 0.383000 3 69 0 0 1 0 0 GLTP 51228 broad.mit.edu 37 12 110318078 110318078 + Splice_Site SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:110318078G>A ENST00000318348.4 - 1 215 c.102C>T c.(100-102)ttC>ttT p.F34F GLTP_ENST00000544393.1_Splice_Site_p.F34F NM_016433.3 NP_057517.1 Q9NZD2 GLTP_HUMAN glycolipid transfer protein 34 cytoplasm glycolipid binding|glycolipid transporter activity endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1) 4 Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122) BRCA - Breast invasive adenocarcinoma(302;0.0025) CCGGCTCACCGAAGAAGGGCG 0.692000 5 8 0 0 1 0 0 CRYBB1 1414 broad.mit.edu 37 22 26997881 26997881 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr22:26997881G>A ENST00000215939.2 - 5 667 c.537C>T c.(535-537)ttC>ttT p.F179F NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 179 Beta/gamma crystallin 'Greek key' 3. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 CGCGGTCACTGAAGCCGTAGA 0.597000 11 28 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96167542 96167542 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:96167542G>A ENST00000324765.8 + 7 1070 c.723G>A c.(721-723)atG>atA p.M241I DIAPH2_ENST00000373061.3_Missense_Mutation_p.M241I|DIAPH2_ENST00000355827.4_Missense_Mutation_p.M241I|DIAPH2_ENST00000373054.4_Missense_Mutation_p.M237I|DIAPH2_ENST00000373049.4_Missense_Mutation_p.M241I O60879 DIAP2_HUMAN diaphanous-related formin 2 241 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 AAGCATTTATGAATAATAAGG 0.284000 14 8 0 0 1 0 0 RNASEH2B 79621 broad.mit.edu 37 13 51519637 51519637 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr13:51519637C>G ENST00000336617.3 + 7 984 c.585C>G c.(583-585)ttC>ttG p.F195L RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.F195L NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 195 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) CTGCATTTTTCTCTGGTGACC 0.393000 15 45 0 0 1 0 0 FAP 2191 broad.mit.edu 37 2 163075645 163075645 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:163075645G>A ENST00000188790.4 - 8 742 c.535C>T c.(535-537)Cca>Tca p.P179S FAP_ENST00000443424.1_Missense_Mutation_p.P154S NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 179 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 TGAAAAGGTGGATCTCCTGGT 0.328000 27 39 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192079 152192079 + Missense_Mutation SNP C C T rs141565920 TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:152192079C>T ENST00000368801.2 - 3 2101 c.2026G>A c.(2026-2028)Ggc>Agc p.G676S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 676 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGGCCGTAGCTGGAA 0.587000 107 155 0 0 1 0 0 MFSD6 54842 broad.mit.edu 37 2 191301091 191301091 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:191301091C>T ENST00000392328.1 + 3 660 c.336C>T c.(334-336)ttC>ttT p.F112F MFSD6_ENST00000281416.7_Silent_p.F112F NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 112 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 TTCGTTACTTCATTGAATTCT 0.438000 5 93 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361948 83361948 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:83361948G>A ENST00000262752.2 - 14 1219 c.1212C>T c.(1210-1212)atC>atT p.I404I RPS6KA6_ENST00000543399.1_Silent_p.I404I NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 404 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TTGCACTTGTGATAGGAGTGA 0.348000 9 7 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9923342 9923342 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:9923342G>A ENST00000396573.2 - 10 2254 c.1945C>T c.(1945-1947)Ctg>Ttg p.L649L GRIN2A_ENST00000404927.2_Silent_p.L649L|GRIN2A_ENST00000396575.2_Silent_p.L649L|GRIN2A_ENST00000562109.1_Silent_p.L649L|GRIN2A_ENST00000330684.3_Silent_p.L649L|GRIN2A_ENST00000535259.1_Silent_p.L492L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 649 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGGCAGCCAGATTGGCTGTG 0.512000 60 56 0 0 1 0 0 TRIP6 7205 broad.mit.edu 37 7 100468338 100468338 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:100468338G>A ENST00000200457.4 + 6 1332 c.972G>A c.(970-972)agG>agA p.R324R NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 324 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) CCGTGGAGAGGAGGGCATATT 0.607000 10 24 0 0 1 0 0 IRAK1BP1 134728 broad.mit.edu 37 6 79607666 79607666 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:79607666G>A ENST00000369940.2 + 3 607 c.502G>A c.(502-504)Gag>Aag p.E168K IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.E81K NM_001010844.2 NP_001010844.1 Q5VVH5 IKBP1_HUMAN interleukin-1 receptor-associated kinase 1 binding protein 1 168 I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3) 12 all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223) BRCA - Breast invasive adenocarcinoma(397;0.21) AGGTTCTGTTGAGAATCTTCG 0.338000 20 55 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40657451 40657451 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr15:40657451G>C ENST00000267889.3 + 6 910 c.823G>C c.(823-825)Gag>Cag p.E275Q NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 275 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) CAGAAGGCAAGAGAACTTCTT 0.617000 11 31 0 0 1 0 0 GFRAL 389400 broad.mit.edu 37 6 55216139 55216139 + Missense_Mutation SNP A A C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:55216139A>C ENST00000340465.2 + 5 545 c.459A>C c.(457-459)aaA>aaC p.K153N NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 153 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CTTACCTTAAAGCTTGCTCAG 0.453000 41 99 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133059751 133059751 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:133059751C>G ENST00000253861.4 + 7 1206 c.1177C>G c.(1177-1179)Cta>Gta p.L393V EXOC4_ENST00000393161.2_Missense_Mutation_p.L393V|EXOC4_ENST00000539845.1_Missense_Mutation_p.L292V NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 393 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) CCAAGATGTTCTACAGGTAAG 0.418000 16 28 0 0 1 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437628 201437628 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:201437628G>C ENST00000367311.3 - 1 684 c.287C>G c.(286-288)gCc>gGc p.A96G PHLDA3_ENST00000367309.1_Missense_Mutation_p.A96G|PHLDA3_ENST00000485436.1_5'UTR NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 96 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 GGTGATCTGGGCGTTCCAGCC 0.657000 48 73 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36651906 36651906 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:36651906C>T ENST00000405375.1 + 2 263 c.28C>T c.(28-30)Cag>Tag p.Q10* CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.Q10*|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.Q44*|CDKN1A_ENST00000478800.1_3'UTR NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 10 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGATGTCCGTCAGAACCCATG 0.637000 6 23 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118526323 118526323 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr11:118526323G>A ENST00000361417.2 + 22 4294 c.3883G>A c.(3883-3885)Gag>Aag p.E1295K PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.E346K|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E1248K|PHLDB1_ENST00000524713.1_Missense_Mutation_p.E438K NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 1295 PH. breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGACAAGCATGAGACGAAGCT 0.547000 4 61 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33637720 33637720 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:33637720C>T ENST00000252015.2 - 6 695 c.606G>A c.(604-606)aaG>aaA p.K202K TRPC4AP_ENST00000432634.2_Silent_p.K163K|TRPC4AP_ENST00000451813.2_Silent_p.K202K Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 202 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) GTAAGAATGTCTTCTTACTTG 0.423000 27 51 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339475 131339475 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr9:131339475C>T ENST00000372739.3 + 7 963 c.853C>T c.(853-855)Cga>Tga p.R285* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R285*|SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.R285* NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 285 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TGATTTTGGCCGAGACCTGGC 0.483000 47 37 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38481878 38481878 + Missense_Mutation SNP T T G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:38481878T>G ENST00000263409.4 - 20 3275 c.3113A>C c.(3112-3114)aAt>aCt p.N1038T LIFR_ENST00000453190.2_Missense_Mutation_p.N1038T NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 1038 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) AGACACTAAATTCCATGTATT 0.418000 T PLAG1 salivary adenoma 5 64 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148614342 148614342 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:148614342G>A ENST00000296046.3 + 11 1154 c.1102G>A c.(1102-1104)Gac>Aac p.D368N RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 368 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTGGGCTTATGACCTGGGCAT 0.393000 43 60 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229536 7229536 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:7229536C>T ENST00000379938.2 + 10 1741 c.1204C>T c.(1204-1206)Cag>Tag p.Q402* RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q402*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q402*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q402* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 402 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) TCAGCTACCTCAGGACCCCGG 0.607000 7 15 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83290148 83290148 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:83290148C>G ENST00000549919.1 + 4 2993 c.1188C>G c.(1186-1188)atC>atG p.I396M TMTC2_ENST00000321196.3_Missense_Mutation_p.I402M|TMTC2_ENST00000548305.1_Missense_Mutation_p.I402M Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 402 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTTTGTTAATCATACCCTTTG 0.388000 38 80 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20108131 20108131 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:20108131C>T ENST00000395530.2 + 2 734 c.526C>T c.(526-528)Ctt>Ttt p.L176F AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.L257F|SPECC1_ENST00000395525.3_Missense_Mutation_p.L176F|SPECC1_ENST00000395529.3_Missense_Mutation_p.L257F|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.L257F|SPECC1_ENST00000395522.2_Missense_Mutation_p.L176F NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 257 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ACTGATCTATCTTGAGCACTC 0.483000 33 79 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170019075 170019075 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:170019075C>T ENST00000263816.3 - 63 12079 c.11794G>A c.(11794-11796)Gaa>Aaa p.E3932K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3932 LDL-receptor class A 36. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTTATATTCATATTCTGTA 0.388000 47 44 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145651076 145651076 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:145651076C>T ENST00000265271.5 + 19 2993 c.2827C>T c.(2827-2829)Cga>Tga p.R943* RBM27_ENST00000506502.1_Nonsense_Mutation_p.R888* NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 943 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCTGTGGGTCGAGGAAAGAC 0.453000 15 24 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30950114 30950114 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr18:30950114C>G ENST00000383096.3 - 6 430 c.248G>C c.(247-249)cGt>cCt p.R83P CCDC178_ENST00000406524.2_Missense_Mutation_p.R83P|CCDC178_ENST00000403303.1_Missense_Mutation_p.R83P|CCDC178_ENST00000402325.1_Missense_Mutation_p.R83P|CCDC178_ENST00000579947.1_Missense_Mutation_p.R83P|CCDC178_ENST00000579916.1_Missense_Mutation_p.R83P|CCDC178_ENST00000300227.8_Missense_Mutation_p.R83P|CCDC178_ENST00000583930.1_Missense_Mutation_p.R83P coiled-coil domain containing 178 ACAGCTGTGACGTCGACATGG 0.373000 14 37 0 0 1 0 0 TMEM248 55069 broad.mit.edu 37 7 66418223 66418223 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:66418223C>T ENST00000341567.4 + 6 1046 c.791C>T c.(790-792)tCa>tTa p.S264L NM_017994.4 NP_060464.1 transmembrane protein 248 GATGACCGTTCATTAATAAAT 0.378000 33 75 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5789319 5789319 + Nonsense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr10:5789319C>G ENST00000328090.5 + 15 4560 c.3935C>G c.(3934-3936)tCa>tGa p.S1312* NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1312 GCCCCATTCTCAAATTTAGAA 0.443000 40 95 0 0 1 0 0 USP9Y 8287 broad.mit.edu 37 Y 14848137 14848137 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrY:14848137G>A ENST00000338981.3 + 9 1924 c.979G>A c.(979-981)Gag>Aag p.E327K USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 327 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 AGGACAAGATGAGACTATAAA 0.289000 12 2 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187952 62187952 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:62187952C>T ENST00000370098.3 + 2 1028 c.936C>T c.(934-936)ccC>ccT p.P312P C20orf195_ENST00000370097.1_Silent_p.P312P NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 312 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TGGAGGGGCCCGCCCTCAGCC 0.498000 42 71 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94060057 94060057 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr14:94060057C>G ENST00000553484.1 + 23 3218 c.3064C>G c.(3064-3066)Cag>Gag p.Q1022E UNC79_ENST00000256339.4_Missense_Mutation_p.Q845E|UNC79_ENST00000555664.1_Missense_Mutation_p.Q1022E|UNC79_ENST00000393151.2_Missense_Mutation_p.Q1022E Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1022 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CGAGTTCTCTCAGCTGTCTTC 0.478000 4 54 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233748753 233748753 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:233748753G>C ENST00000264051.3 - 11 1817 c.1539C>G c.(1537-1539)ctC>ctG p.L513L NGEF_ENST00000539537.1_Silent_p.L236L|NGEF_ENST00000373552.4_Silent_p.L421L NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 513 PH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) TTTCGTGGAAGAGCTTCTTGG 0.622000 3 15 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42442563 42442563 + Silent SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr13:42442563T>C ENST00000379310.3 - 10 1199 c.1131A>G c.(1129-1131)gtA>gtG p.V377V VWA8_ENST00000281496.6_Silent_p.V377V NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TCTCTACTTTTACAATCTCTT 0.353000 23 36 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227895264 227895264 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:227895264C>T ENST00000396625.3 - 41 4075 c.3868G>A c.(3868-3870)Gag>Aag p.E1290K COL4A4_ENST00000329662.7_Missense_Mutation_p.E1290K NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1290 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCACCTGGCTCCCCTCTCAGA 0.557000 6 44 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4858805 4858805 + Nonsense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:4858805C>A ENST00000323997.6 + 8 903 c.771C>A c.(769-771)taC>taA p.Y257* ENO3_ENST00000518175.1_Nonsense_Mutation_p.Y257*|ENO3_ENST00000519584.1_Nonsense_Mutation_p.Y214* NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 257 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 ATGGGAAGTACGATCTTGACT 0.537000 12 227 7.03913e-09 7.44719e-09 1 1 0 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:1803568C>G ENST00000340107.4 + 7 1002 c.746C>G c.(745-747)tCc>tGc p.S249C FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000260795.2_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 249 S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1204)|p.R248_S249del(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.736000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 13 15 0 0 1 0 0 LRRC18 474354 broad.mit.edu 37 10 50121548 50121548 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr10:50121548C>T ENST00000374160.3 - 1 729 c.653G>A c.(652-654)cGg>cAg p.R218Q WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.R218Q|WDFY4_ENST00000413659.2_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 218 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CAGGTTGTCCCGGGCGTTTTG 0.498000 20 61 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189873943 189873943 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:189873943G>A ENST00000304636.3 + 48 3989 c.3819G>A c.(3817-3819)aaG>aaA p.K1273K COL3A1_ENST00000317840.5_Silent_p.K970K NM_000090.3 NP_000081 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1273 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGAACTCAAGAGTGGTATGT 0.398000 20 27 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50123664 50123664 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:50123664G>C ENST00000418929.2 + 10 5565 c.5553G>C c.(5551-5553)cgG>cgC p.R1851R NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 1030 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGATGTACCGGAGCTACGTGG 0.607000 2 4 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24535666 24535666 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr14:24535666C>T ENST00000342740.5 + 35 3739 c.3585C>T c.(3583-3585)gaC>gaT p.D1195D LRRC16B_ENST00000334420.7_Silent_p.D248D NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1195 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCTCTTCAGACGACGCAGGTA 0.542000 25 53 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83841922 83841922 + Silent SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:83841922T>C ENST00000349129.2 + 18 2904 c.2644T>C c.(2644-2646)Ttg>Ctg p.L882L DOPEY1_ENST00000369739.3_Silent_p.L873L|DOPEY1_ENST00000237163.5_Silent_p.L863L NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 882 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) GTGGGACCAGTTGGGAGATGG 0.353000 23 43 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972243 101972243 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chrX:101972243G>C ENST00000543253.1 + 5 3365 c.2446G>C c.(2446-2448)Gag>Cag p.E816Q GPRASP2_ENST00000332262.5_Missense_Mutation_p.E816Q|GPRASP2_ENST00000535209.1_Missense_Mutation_p.E816Q NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 TCGTGAATTTGAGGAGTTAGC 0.378000 5 69 0 0 1 0 0 SGSM2 9905 broad.mit.edu 37 17 2266166 2266166 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:2266166C>A ENST00000268989.3 + 5 670 c.493C>A c.(493-495)Cct>Act p.P165T SGSM2_ENST00000574563.1_Missense_Mutation_p.P165T|SGSM2_ENST00000426855.2_Missense_Mutation_p.P165T NM_014853.2 NP_055668.2 O43147 SGSM2_HUMAN small G protein signaling modulator 2 165 RUN. intracellular Rab GTPase activator activity biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) GCTGGCAGACCCTGTGTTCGG 0.627000 18 40 6.49762e-13 7.0795e-13 1 1 0 PRRC2C 23215 broad.mit.edu 37 1 171556229 171556229 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:171556229C>T ENST00000367742.3 + 31 8079 c.7837C>T c.(7837-7839)Cag>Tag p.Q2613* PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.Q2546*|PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.Q2611*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.Q2613* Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 2611 Gln-rich. protein C-terminus binding TCAGACTCTTCAGCCCCCATT 0.478000 3 16 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492988 21492988 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr20:21492988C>G ENST00000377142.4 - 2 751 c.395G>C c.(394-396)cGa>cCa p.R132P NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 132 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GAAAAGCACTCGCCGCTTTCG 0.682000 5 17 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201450847 201450847 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:201450847G>C ENST00000374700.2 + 1 257 c.16G>C c.(16-18)Gag>Cag p.E6Q NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 6 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CCGGGCGTCCGAGCTGCTCTT 0.726000 3 1 0 0 1 0 0 CCDC17 149483 broad.mit.edu 37 1 46088753 46088753 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:46088753C>T ENST00000421127.2 - 4 646 c.503G>A c.(502-504)cGg>cAg p.R168Q CCDC17_ENST00000528266.1_Missense_Mutation_p.R177Q|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Missense_Mutation_p.R145Q NM_001114938.2|NM_001190182.1 NP_001108410.2|NP_001177111.1 Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 177 kidney(1)|large_intestine(1)|lung(1)|ovary(2) 5 Acute lymphoblastic leukemia(166;0.155) CATCCCGCCCCGCGTACAGGC 0.657000 6 11 0 0 1 0 0 VWA5A 4013 broad.mit.edu 37 11 124006841 124006841 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr11:124006841C>T ENST00000456829.2 + 13 1616 c.1365C>T c.(1363-1365)ctC>ctT p.L455L VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Silent_p.L455L NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 455 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 ATTAGGCTCTCAGGACTCTGA 0.438000 56 88 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672259 186672259 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:186672259G>A ENST00000343098.5 + 17 18493 c.18493G>A c.(18493-18495)Gat>Aat p.D6165N FSIP2_ENST00000424728.1_Missense_Mutation_p.D6076N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTTACAATCTGATGATGATGA 0.328000 33 97 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52588011 52588011 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr10:52588011C>G ENST00000374001.2 - 6 788 c.649G>C c.(649-651)Gag>Cag p.E217Q A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.E217Q|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000373997.3_Missense_Mutation_p.E217Q|A1CF_ENST00000373995.3_Missense_Mutation_p.E225Q|A1CF_ENST00000395489.2_Missense_Mutation_p.E210Q|A1CF_ENST00000373993.1_Missense_Mutation_p.E217Q Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 ACTTCTGGCTCTGCCCAGTCT 0.368000 4 96 0 0 1 0 0 C14orf166B 145497 broad.mit.edu 37 14 77319640 77319640 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr14:77319640C>T ENST00000393774.3 + 9 1019 c.895C>T c.(895-897)Cga>Tga p.R299* C14orf166B_ENST00000450042.2_3'UTR NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 299 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GGAAGTCCTCCGACTCAACCG 0.537000 28 38 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676300 113676300 + Missense_Mutation SNP G G T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:113676300G>T ENST00000263326.3 + 5 613 c.571G>T c.(571-573)Gat>Tat p.D191Y IL37_ENST00000352179.3_Missense_Mutation_p.D170Y|IL37_ENST00000349806.3_Missense_Mutation_p.D130Y|IL37_ENST00000353225.3_Missense_Mutation_p.D151Y|IL37_ENST00000311328.2_Missense_Mutation_p.D165Y NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 191 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 TGGGGTGACAGATAAATTTGA 0.498000 15 31 1.05317e-09 1.11963e-09 1 1 0 GTF2B 2959 broad.mit.edu 37 1 89323155 89323155 + Nonsense_Mutation SNP G G T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:89323155G>T ENST00000370500.5 - 6 669 c.551C>A c.(550-552)tCa>tAa p.S184* GTF2B_ENST00000494819.1_5'UTR NM_001514.5 NP_001505.1 Q00403 TF2B_HUMAN general transcription factor IIB 184 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Lung NSC(277;0.123) all cancers(265;0.0131)|Epithelial(280;0.0255) AGAAATTCGTGATACGGCACA 0.299000 31 45 1.55811e-20 1.7147e-20 1 1 0 SPNS1 83985 broad.mit.edu 37 16 28994238 28994238 + Missense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:28994238C>A ENST00000311008.11 + 9 1593 c.1216C>A c.(1216-1218)Ctg>Atg p.L406M SPNS1_ENST00000352260.7_Missense_Mutation_p.L332M|SPNS1_ENST00000334536.8_Missense_Mutation_p.L354M|SPNS1_ENST00000323081.8_Missense_Mutation_p.L333M|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.L451M NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 406 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 GGCCGACATTCTGCTGGTGAG 0.582000 28 41 1.17739e-12 1.27648e-12 1 1 0 NCKAP5 344148 broad.mit.edu 37 2 133542664 133542664 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:133542664C>T ENST00000409261.1 - 14 2093 c.1720G>A c.(1720-1722)Gct>Act p.A574T NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A574T NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 574 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 AGGTTGAGAGCCATGCGGCCA 0.552000 4 91 0 0 1 0 0 ETNPPL 64850 broad.mit.edu 37 4 109669170 109669170 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:109669170C>T ENST00000296486.3 - 9 1227 c.1073G>A c.(1072-1074)gGa>gAa p.G358E ETNPPL_ENST00000411864.2_Missense_Mutation_p.G352E|ETNPPL_ENST00000510706.1_Missense_Mutation_p.G318E|ETNPPL_ENST00000512646.1_Missense_Mutation_p.G300E NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase p.G358V(1) CCTAATATCTCCTATCAAAGT 0.348000 3 43 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101578176 101578176 + Silent SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:101578176G>A ENST00000326172.5 + 12 2233 c.2118G>A c.(2116-2118)ctG>ctA p.L706L NFKBIZ_ENST00000394054.2_Silent_p.L606L|NFKBIZ_ENST00000326151.5_Silent_p.L584L NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 706 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 GACGTATCCTGAAGGGAAAGT 0.428000 6 26 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44223148 44223148 + Nonsense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:44223148C>T ENST00000393812.3 - 4 737 c.594G>A c.(592-594)tgG>tgA p.W198* SLC35B2_ENST00000537814.1_Nonsense_Mutation_p.W65*|SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Nonsense_Mutation_p.W105* NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 198 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CGTATTGGCACCAGCTGCTAA 0.572000 44 61 0 0 1 0 0 FAM177A1 283635 broad.mit.edu 37 14 35546420 35546420 + Nonsense_Mutation SNP C C A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr14:35546420C>A ENST00000396472.1 + 5 794 c.335C>A c.(334-336)tCa>tAa p.S112* FAM177A1_ENST00000280987.4_Nonsense_Mutation_p.S135*|FAM177A1_ENST00000382406.3_Nonsense_Mutation_p.S112* NM_001079519.1 NP_001072987.1 Q8N128 F177A_HUMAN family with sequence similarity 177, member A1 112 breast(1)|large_intestine(1)|lung(2)|urinary_tract(1) 5 TCAACTCTCTCAGGTATTGCT 0.388000 56 115 1.74971e-23 1.94511e-23 1 1 0 BZRAP1 9256 broad.mit.edu 37 17 56389782 56389782 + Silent SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:56389782G>C ENST00000355701.3 - 17 3270 c.2400C>G c.(2398-2400)ctC>ctG p.L800L BZRAP1_ENST00000268893.6_Silent_p.L740L|BZRAP1_ENST00000343736.4_Silent_p.L800L NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 800 Fibronectin type-III 1. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCAGCTGCTTGAGGACCACCA 0.662000 10 19 0 0 1 0 0 BTBD11 121551 broad.mit.edu 37 12 107937752 107937752 + Silent SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:107937752C>G ENST00000280758.5 + 3 1854 c.1326C>G c.(1324-1326)ctC>ctG p.L442L BTBD11_ENST00000420571.2_Silent_p.L442L|BTBD11_ENST00000490090.2_Silent_p.L442L NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 442 integral to membrane DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TGCAGCCCCTCAATGCCAAGC 0.567000 11 10 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21230763 21230763 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:21230763C>G ENST00000233242.1 - 26 9104 c.8977G>C c.(8977-8979)Gat>Cat p.D2993H NM_000384.2 NP_000375 P04114 APOB_HUMAN apolipoprotein B 2993 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCTGGGAATCGACTTGTGAT 0.418000 19 41 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 80020847 80020847 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr9:80020847G>A ENST00000360280.3 + 70 9603 c.9343G>A c.(9343-9345)Gaa>Aaa p.E3115K VPS13A_ENST00000376646.3_Missense_Mutation_p.E51K|VPS13A_ENST00000376636.3_Missense_Mutation_p.E3076K|VPS13A_ENST00000484581.2_Missense_Mutation_p.E51K NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 3115 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TAGTTTTGATGAATTTACCAA 0.338000 29 24 0 0 1 0 0 NOL3 8996 broad.mit.edu 37 16 67208956 67208956 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:67208956G>A ENST00000568146.1 + 4 669 c.616G>A c.(616-618)Gaa>Aaa p.E206K NOL3_ENST00000564053.1_Silent_p.*271*|NOL3_ENST00000268605.7_Silent_p.*209*|NOL3_ENST00000432069.2_Silent_p.*209* O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 206 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CTAGATTCCTGAAGGCCAGAG 0.647000 4 129 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13072797 13072797 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr18:13072797C>G ENST00000506447.1 + 29 5472 c.5392C>G c.(5392-5394)Caa>Gaa p.Q1798E CEP192_ENST00000325971.8_Missense_Mutation_p.Q1202E|CEP192_ENST00000430049.2_Missense_Mutation_p.Q1323E NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1393 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 ATCTACAACTCAACATTTACG 0.363000 22 52 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135304280 135304280 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr7:135304280C>T ENST00000285968.6 + 29 4099 c.4073C>T c.(4072-4074)tCa>tTa p.S1358L NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1358 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AAGGAAACATCAGTCTTGGGA 0.512000 15 38 0 0 1 0 0 NMI 9111 broad.mit.edu 37 2 152132312 152132312 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:152132312G>A ENST00000243346.5 - 5 877 c.407C>T c.(406-408)aCg>aTg p.T136M NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 136 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) TGGCTTGGCCGTAACCTCCAG 0.353000 3 53 0 0 1 0 0 LIG4 3981 broad.mit.edu 37 13 108861580 108861580 + Silent SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr13:108861580C>T ENST00000356922.4 - 2 2309 c.2037G>A c.(2035-2037)gaG>gaA p.E679E LIG4_ENST00000442234.1_Silent_p.E679E|LIG4_ENST00000405925.1_Silent_p.E679E NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 679 BRCT 1. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CAATTCTGTTCTCCAGGTCAG 0.383000 Non-homologous end-joining 26 47 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86705339 86705339 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr2:86705339G>C ENST00000409556.1 + 15 2504 c.2139G>C c.(2137-2139)caG>caC p.Q713H KDM3A_ENST00000542128.1_Missense_Mutation_p.Q661H|KDM3A_ENST00000312912.5_Missense_Mutation_p.Q713H|KDM3A_ENST00000409064.1_Missense_Mutation_p.Q713H Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 713 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 TGAAGAGTCAGATACATGAAC 0.403000 3 61 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228495952 228495952 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:228495952G>A ENST00000570156.2 + 58 15552 c.15478G>A c.(15478-15480)Gag>Aag p.E5160K OBSCN_ENST00000366709.4_Missense_Mutation_p.E1322K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E1837K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4203K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E4203K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4203 Ig-like 49. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCAAAGCAATGAGGTGACAGA 0.627000 18 31 0 0 1 0 0 S100A7L2 645922 broad.mit.edu 37 1 153410822 153410822 + Splice_Site SNP C C A rs10888561 by1000genomes TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:153410822C>A ENST00000368725.2 - 2 16 c.17G>T c.(16-18)gGc>gTc p.G6V NM_001045479.1 NP_001038944.2 S100 calcium binding protein A7-like 2 NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TTTCAAAAAGCCTTCAGGAAA 0.408000 22 41 7.45023e-12 8.03743e-12 1 1 0 CSNK1D 1453 broad.mit.edu 37 17 80210471 80210471 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr17:80210471C>T ENST00000314028.6 - 5 924 c.575G>A c.(574-576)cGa>cAa p.R192Q CSNK1D_ENST00000392334.2_Missense_Mutation_p.R192Q|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Missense_Mutation_p.R192Q NM_001893.4 NP_001884.2 P48730 KC1D_HUMAN casein kinase 1, delta 192 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|large_intestine(2)|lung(7) 11 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) GTCATCTCTTCGGGATTGTTC 0.542000 8 32 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54966534 54966534 + Missense_Mutation SNP C C T TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:54966534C>T ENST00000394636.4 + 2 711 c.374C>T c.(373-375)aCg>aTg p.T125M IRX5_ENST00000558597.1_Missense_Mutation_p.T59M|IRX5_ENST00000320990.5_Missense_Mutation_p.T125M|IRX5_ENST00000560154.1_Intron P78411 IRX5_HUMAN iroquois homeobox 5 125 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 AGGGACGCCACGGCTACCCTC 0.637000 5 73 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645406 122645406 + Missense_Mutation SNP C C G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr3:122645406C>G ENST00000195173.4 - 9 1272 c.969G>C c.(967-969)aaG>aaC p.K323N SEMA5B_ENST00000451055.2_Missense_Mutation_p.K377N|SEMA5B_ENST00000357599.3_Missense_Mutation_p.K323N Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 323 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) CCACGTCATTCTTGCACACGC 0.597000 5 15 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 705107 705107 + Missense_Mutation SNP G G C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr16:705107G>C ENST00000549091.1 + 14 1608 c.1516G>C c.(1516-1518)Gac>Cac p.D506H LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Missense_Mutation_p.D506H NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 506 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CACTGACTTTGACGTCCAGGC 0.647000 13 32 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 90 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174588 112174588 + Silent SNP T T G TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:112174588T>G ENST00000457016.1 + 16 3677 c.3297T>G c.(3295-3297)gtT>gtG p.V1099V CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.V1099V|APC_ENST00000257430.4_Silent_p.V1099V P25054 APC_HUMAN adenomatous polyposis coli 1099 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGGAATGTGTTTCTCCATACA 0.403000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 20 52 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324558 152324559 + Frame_Shift_Del DEL TG TG - rs140875805 byFrequency TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr1:152324558_152324559delTG ENST00000388718.5 - 3 5775_5776 c.5703_5704delCA c.(5701-5706)cacagcfs p.HS1901fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1901 calcium ion binding|structural molecule activity p.H1901fs*30(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTTGGCTGTGTGTGTGTC 0.515 8 342 --- --- --- --- CAMLG 819 broad.mit.edu 37 5 134076756 134076759 + Frame_Shift_Del DEL AAGA AAGA - TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr5:134076756_134076759delAAGA ENST00000297156.2 + 2 296_299 c.176_179delAAGA c.(175-180)gaagaafs p.EE59fs CAMLG_ENST00000514518.1_Intron NM_001745.3 NP_001736.1 P49069 CAMLG_HUMAN calcium modulating ligand 59 defense response endoplasmic reticulum|integral to membrane NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Cyclosporine(DB00091) TTCTCAGAAGAAGAAAGTCAAACA 0.382 10 16 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652053 36652068 + Frame_Shift_Del DEL CTGGAGGGTGACTTCG CTGGAGGGTGACTTCG - rs4986867 byFrequency TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr6:36652053_36652068delCTGGAGGGTGACTTCG ENST00000405375.1 + 2 410_425 c.175_190delCTGGAGGGTGACTTCG c.(175-192)ctggagggtgacttcgccfs p.LEGDFA59fs CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.LEGDFA93fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.LEGDFA59fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.LEGDFA59fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 59 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding p.G61V(1)|p.A64fs*25(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CGAGACACCACTGGAGGGTGACTTCGCCTGGGAGCG 0.676 9 32 --- --- --- --- TSC1 7248 broad.mit.edu 37 9 135787750 135787751 + Frame_Shift_Del DEL AC AC - rs118203456 TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr9:135787750_135787751delAC ENST00000298552.3 - 9 1052_1053 c.831_832delGT c.(829-834)gtgtctfs p.S278fs TSC1_ENST00000545250.1_Frame_Shift_Del_p.S227fs|TSC1_ENST00000403810.1_Frame_Shift_Del_p.S278fs|TSC1_ENST00000440111.2_Frame_Shift_Del_p.S278fs NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 278 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) ATTTGGTGAGACACAGAATAGC 0.450 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 11 16 --- --- --- --- SOX5 6660 broad.mit.edu 37 12 23999053 23999053 + Frame_Shift_Del DEL T T - TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:23999053delT ENST00000546136.1 - 2 308 c.306delA c.(304-306)gaafs p.E102fs SOX5_ENST00000541847.1_Frame_Shift_Del_p.E105fs|SOX5_ENST00000541536.1_Frame_Shift_Del_p.E102fs|SOX5_ENST00000537393.1_Frame_Shift_Del_p.E80fs|SOX5_ENST00000309359.1_Frame_Shift_Del_p.E102fs|SOX5_ENST00000451604.2_Frame_Shift_Del_p.E115fs|SOX5_ENST00000545921.1_Frame_Shift_Del_p.E105fs|SOX5_ENST00000381381.2_Frame_Shift_Del_p.E102fs|SOX5_ENST00000441133.2_Frame_Shift_Del_p.E80fs P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 115 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 GTCGCCCACCTTCTTCTGCCT 0.478 31 41 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46243452 46243452 + Frame_Shift_Del DEL G G - TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr12:46243452delG ENST00000334344.6 + 14 1977 c.1805delG c.(1804-1806)aggfs p.R602fs ARID2_ENST00000444670.1_Frame_Shift_Del_p.R212fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.R453fs|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 602 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GTAAAACGGAGGGCTATACCA 0.443 """N, S, F""" hepatocellular carcinoma 49 125 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G rs11375503 TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3e957106-6640-40e8-b34f-d7be77ed8a3d a26ae277-b5b8-4c1e-80c9-34e2ffee09b7 g.chr19:54754838_54754839insG ENST00000450632.1 - 13 1873_1874 c.1796_1797insC c.(1795-1797)ccafs p.P599fs LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 424 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGGTGGGGGTGGGGAGGCCTG 0.604 4 9 --- --- --- ---