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 MYOM2 9172 broad.mit.edu 37 8 2040223 2040223 + Silent SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr8:2040223G>A ENST00000262113.4 + 16 2019 c.1878G>A c.(1876-1878)acG>acA p.T626T MYOM2_ENST00000523438.1_Silent_p.T51T NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 626 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACACCAAGACGTCGGTGGTGG 0.572000 6 218 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184856 130184856 + Missense_Mutation SNP C C A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr12:130184856C>A ENST00000422113.2 - 2 793 c.467G>T c.(466-468)tGg>tTg p.W156L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 156 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCGGTCGTCCCAGTCTCTGCC 0.607000 13 35 1.61879e-10 1.7169e-10 1 1 0 DMGDH 29958 broad.mit.edu 37 5 78322341 78322341 + Missense_Mutation SNP A A C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr5:78322341A>C ENST00000255189.3 - 13 2124 c.2096T>G c.(2095-2097)aTg>aGg p.M699R DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R|DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 699 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GCCTGCATTCATGATAGCGTC 0.512000 4 96 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466799 56466799 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr19:56466799G>A ENST00000291971.3 + 3 1446 c.1375G>A c.(1375-1377)Gca>Aca p.A459T NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 459 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) TCACTTGGCCGCAGACAGCAT 0.498000 4 118 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481888 142481888 + RNA SNP T T C rs138077672 by1000genomes TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr7:142481888T>C ENST00000603901.1 + 0 567 NR_001296.3 TGGGCTTCCTTGAGGGAGGCA 0.522000 3 54 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137323832 137323832 + Silent SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr9:137323832C>T ENST00000540193.1 + 7 1757 c.834C>T c.(832-834)ctC>ctT p.L278L RXRA_ENST00000481739.1_Silent_p.L375L|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 375 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCATCGTCCTCTTTAACCCTG 0.627000 22 24 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47470042 47470042 + Missense_Mutation SNP T T A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr3:47470042T>A ENST00000265565.5 - 4 783 c.371A>T c.(370-372)cAa>cTa p.Q124L SCAP_ENST00000545718.1_Intron|SCAP_ENST00000441517.2_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 124 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CTCCACCAGTTGGAATGCCCG 0.527000 7 201 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29752485 29752485 + Silent SNP G G A rs56022643 byFrequency TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr10:29752485G>A ENST00000375398.2 - 37 6662 c.6213C>T c.(6211-6213)tcC>tcT p.S2071S PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000535393.1_Silent_p.S985S|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Silent_p.S2071S|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.S1645S|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA O95425 SVIL_HUMAN supervillin 2071 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGATGCGGGCGGAACCAGTGA 0.592000 3 57 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175754 79175754 + Silent SNP G G T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr13:79175754G>T ENST00000377208.5 - 2 1267 c.1056C>A c.(1054-1056)ggC>ggA p.G352G RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000606376.1_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 352 axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G352G(1) central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) TCTTCTCGCCGCCGTTGAAGA 0.652000 7 22 2.7689e-08 2.85033e-08 1 1 0 KAT8 84148 broad.mit.edu 37 16 31141896 31141896 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr16:31141896T>C ENST00000543774.2 + 10 1461 c.1126T>C c.(1126-1128)Ttc>Ctc p.F376L KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|KAT8_ENST00000219797.4_Missense_Mutation_p.F376L Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 376 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 CCTGCGGGACTTCCGGGGCAC 0.647000 17 39 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332492 22332492 + RNA SNP A A C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr15:22332492A>C ENST00000558896.1 + 0 299 TATTTCTCTTATTACTATTTT 0.383000 5 209 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30634596 30634596 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr7:30634596T>C ENST00000389266.3 + 1 300 c.59T>C c.(58-60)cTg>cCg p.L20P NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) CTGCTGCTGCTGCCGCCCCGG 0.736000 3 20 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131355261 131355261 + Splice_Site SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr9:131355261G>A ENST00000372739.3 + 23 3265 c.e23-1 SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 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 CCTCTGTGCAGGACACGCATA 0.532000 3 13 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83857237 83857237 + Missense_Mutation SNP G G C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr4:83857237G>C ENST00000340417.3 - 11 2119 c.1742C>G c.(1741-1743)cCt>cGt p.P581R LIN54_ENST00000506560.1_Missense_Mutation_p.P492R|LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 581 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CCCTATCTTAGGCTTAAAGGC 0.378000 17 94 0 0 1 0 0 DNM1P47 0 broad.mit.edu 37 15 102304770 102304770 + RNA SNP C C T rs62026988 by1000genomes TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr15:102304770C>T ENST00000561463.1 + 0 12816 GGCACAGCGGCGTGACGAGAC 0.592000 3 30 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38137432 38137432 + Missense_Mutation SNP G G C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr21:38137432G>C ENST00000399120.1 - 9 2791 c.1561C>G c.(1561-1563)Ctt>Gtt p.L521V HLCS_ENST00000336648.3_Missense_Mutation_p.L521V NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 521 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGAGTAGAAAGAGCACATCCC 0.572000 4 75 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18513180 18513180 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr8:18513180T>C ENST00000440756.2 - 10 2296 c.2194A>G c.(2194-2196)Atc>Gtc p.I732V PSD3_ENST00000286485.8_Missense_Mutation_p.I196V|PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000327040.8_Missense_Mutation_p.I730V|PSD3_ENST00000523619.1_Missense_Mutation_p.I665V Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 731 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TCATTCTTGATTGAGTTGTAC 0.373000 3 88 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060967 12060967 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr19:12060967G>A ENST00000482090.1 + 3 2492 c.2074G>A c.(2074-2076)Gga>Aga p.G692R ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G710R Q9H0M5 ZN700_HUMAN zinc finger protein 700 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 TAAGGAATGCGGAAAAGCATT 0.383000 3 58 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71519144 71519144 + Missense_Mutation SNP C C A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr12:71519144C>A ENST00000393330.2 - 12 1236 c.684G>T c.(682-684)atG>atT p.M228I TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I|TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I P19075 TSN8_HUMAN tetraspanin 8 228 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) AATACAGGACCATAGAAAACA 0.353000 49 73 1.87854e-15 2.05466e-15 1 1 0 CNOT1 23019 broad.mit.edu 37 16 58560012 58560012 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr16:58560012G>A ENST00000317147.5 - 45 6816 c.6484C>T c.(6484-6486)Ccc>Tcc p.P2162S CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S|CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2162 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGAATCCGGGGAGCAATGTTA 0.378000 32 94 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263440 34263440 + Silent SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr19:34263440C>T ENST00000262622.3 + 4 1505 c.747C>T c.(745-747)agC>agT p.S249S CHST8_ENST00000438847.2_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 249 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) ACCGTCTCAGCACCTACACCA 0.602000 8 108 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21646063 21646063 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr18:21646063G>A ENST00000317571.3 + 3 540 c.304G>A c.(304-306)Gct>Act p.A102T TTC39C_ENST00000578150.1_3'UTR|TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 102 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 AAGTGAAGAGGCTGGAGTAAT 0.358000 12 41 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170802927 170802927 + Missense_Mutation SNP T T A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr3:170802927T>A ENST00000436636.2 - 25 3322 c.2978A>T c.(2977-2979)gAt>gTt p.D993V TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000284483.8_Missense_Mutation_p.D985V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000341852.6_Missense_Mutation_p.D909V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 993 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TGATTCCTCATCCTCTTCATC 0.478000 5 18 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70732321 70732321 + Silent SNP A A G TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr12:70732321A>G ENST00000229195.3 + 10 1578 c.999A>G c.(997-999)aaA>aaG p.K333K CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Silent_p.K333K NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 333 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) AGCAGAAAAAAGGGATCCAGG 0.323000 3 107 0 0 1 0 0 INO80E 283899 broad.mit.edu 37 16 30012109 30012109 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr16:30012109G>A ENST00000563197.1 + 4 1253 c.236G>A c.(235-237)aGc>aAc p.S79N INO80E_ENST00000567254.1_Missense_Mutation_p.S79N|INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 79 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 TCAGATAACAGCGAGACGGAG 0.587000 3 58 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140530372 140530372 + Missense_Mutation SNP C C A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr5:140530372C>A ENST00000231136.1 + 1 534 c.534C>A c.(532-534)caC>caA p.H178Q PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 178 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCACTTCCACGTTCTCACCC 0.547000 12 357 0.000151284 0.000151284 1 1 0 MID2 11043 broad.mit.edu 37 X 107148766 107148766 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chrX:107148766G>A ENST00000262843.6 + 5 1531 c.983G>A c.(982-984)cGg>cAg p.R328Q RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.R328Q NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 328 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGTCTTGAACGGTCAACAGTC 0.403000 9 115 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152772037 152772037 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chrX:152772037G>A ENST00000331595.4 + 5 802 c.616G>A c.(616-618)Gat>Aat p.D206N BGN_ENST00000370204.1_Missense_Mutation_p.D145N|BGN_ENST00000480756.1_3'UTR NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 206 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGAGCCTTCGATGGCCTGAA 0.612000 12 63 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 38 65 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41539194 41539194 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr21:41539194T>C ENST00000400454.1 - 16 3446 c.2969A>G c.(2968-2970)gAa>gGa p.E990G NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 990 Fibronectin type-III 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGGTGAACTTCCTGAGGTGG 0.532000 3 100 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166536026 166536026 + Silent SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr2:166536026C>T ENST00000314499.7 + 7 1897 c.1521C>T c.(1519-1521)tcC>tcT p.S507S CSRNP3_ENST00000342316.4_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 507 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 GCTCCTCTTCCGAAAATGATA 0.512000 16 37 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2040223 2040223 + Silent SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr8:2040223G>A ENST00000262113.4 + 16 2019 c.1878G>A c.(1876-1878)acG>acA p.T626T MYOM2_ENST00000523438.1_Silent_p.T51T NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 626 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACACCAAGACGTCGGTGGTGG 0.572000 6 218 0 0 1 0 0 FGF5 2250 broad.mit.edu 37 4 81188003 81188003 + Missense_Mutation SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr4:81188003C>T ENST00000456523.3 + 1 211 c.25C>T c.(25-27)Ctc>Ttc p.L9F FGF5_ENST00000312465.7_Missense_Mutation_p.L9F NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 9 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 CCTCCTCCTCCTCTTCTTCAG 0.627000 3 91 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184856 130184856 + Missense_Mutation SNP C C A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr12:130184856C>A ENST00000422113.2 - 2 793 c.467G>T c.(466-468)tGg>tTg p.W156L NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 156 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCGGTCGTCCCAGTCTCTGCC 0.607000 13 35 1.61879e-10 1.66254e-10 1 1 0 DMGDH 29958 broad.mit.edu 37 5 78322341 78322341 + Missense_Mutation SNP A A C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr5:78322341A>C ENST00000255189.3 - 13 2124 c.2096T>G c.(2095-2097)aTg>aGg p.M699R DMGDH_ENST00000540686.1_Missense_Mutation_p.M319R|DMGDH_ENST00000380311.4_Missense_Mutation_p.M498R NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 699 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) GCCTGCATTCATGATAGCGTC 0.512000 4 96 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466799 56466799 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr19:56466799G>A ENST00000291971.3 + 3 1446 c.1375G>A c.(1375-1377)Gca>Aca p.A459T NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 459 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) TCACTTGGCCGCAGACAGCAT 0.498000 4 118 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962666 41962666 + RNA SNP T T G TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr9:41962666T>G ENST00000454645.1 - 0 838 NR_003670.1 CCTCCGTTGTTTGTCCATTTA 0.358000 3 24 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137323832 137323832 + Silent SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr9:137323832C>T ENST00000540193.1 + 7 1757 c.834C>T c.(832-834)ctC>ctT p.L278L RXRA_ENST00000481739.1_Silent_p.L375L|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 375 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCATCGTCCTCTTTAACCCTG 0.627000 22 24 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47470042 47470042 + Missense_Mutation SNP T T A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr3:47470042T>A ENST00000265565.5 - 4 783 c.371A>T c.(370-372)cAa>cTa p.Q124L SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 124 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CTCCACCAGTTGGAATGCCCG 0.527000 7 201 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29752485 29752485 + Silent SNP G G A rs56022643 byFrequency TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr10:29752485G>A ENST00000375398.2 - 37 6662 c.6213C>T c.(6211-6213)tcC>tcT p.S2071S SVIL_ENST00000535393.1_Silent_p.S985S|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Silent_p.S1645S|SVIL_ENST00000355867.4_Silent_p.S2071S O95425 SVIL_HUMAN supervillin 2071 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGATGCGGGCGGAACCAGTGA 0.592000 3 57 0 0 1 0 0 KAT8 84148 broad.mit.edu 37 16 31141896 31141896 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr16:31141896T>C ENST00000543774.2 + 10 1461 c.1126T>C c.(1126-1128)Ttc>Ctc p.F376L KAT8_ENST00000448516.2_Missense_Mutation_p.F376L|KAT8_ENST00000219797.4_Missense_Mutation_p.F376L Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 376 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 CCTGCGGGACTTCCGGGGCAC 0.647000 17 39 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41539194 41539194 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr21:41539194T>C ENST00000400454.1 - 16 3446 c.2969A>G c.(2968-2970)gAa>gGa p.E990G NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 990 Fibronectin type-III 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CAGGTGAACTTCCTGAGGTGG 0.532000 3 100 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131355261 131355261 + Splice_Site SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr9:131355261G>A ENST00000372739.3 + 23 3265 c.e23-1 SPTAN1_ENST00000358161.5_Splice_Site|SPTAN1_ENST00000372731.4_Splice_Site NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 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 CCTCTGTGCAGGACACGCATA 0.532000 3 13 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6307 6307 + Missense_Mutation SNP A A G TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chrM:6307A>G ENST00000361624.2 + 1 404 c.404A>G c.(403-405)aAc>aGc p.135_135insS mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CTTAGCAGGGAACTACTCCCA 0.522000 76 273 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83857237 83857237 + Missense_Mutation SNP G G C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr4:83857237G>C ENST00000340417.3 - 11 2119 c.1742C>G c.(1741-1743)cCt>cGt p.P581R LIN54_ENST00000442461.2_Missense_Mutation_p.P360R|LIN54_ENST00000510557.1_Missense_Mutation_p.P360R|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Missense_Mutation_p.P581R|LIN54_ENST00000446851.2_Missense_Mutation_p.P360R|LIN54_ENST00000395283.2_Missense_Mutation_p.P492R|LIN54_ENST00000506560.1_Missense_Mutation_p.P492R NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 581 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) CCCTATCTTAGGCTTAAAGGC 0.378000 17 94 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38137432 38137432 + Missense_Mutation SNP G G C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr21:38137432G>C ENST00000399120.1 - 9 2791 c.1561C>G c.(1561-1563)Ctt>Gtt p.L521V HLCS_ENST00000336648.3_Missense_Mutation_p.L521V NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 521 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGAGTAGAAAGAGCACATCCC 0.572000 4 75 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18513180 18513180 + Missense_Mutation SNP T T C TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr8:18513180T>C ENST00000440756.2 - 10 2296 c.2194A>G c.(2194-2196)Atc>Gtc p.I732V PSD3_ENST00000428502.2_Missense_Mutation_p.I59V|PSD3_ENST00000286485.8_Missense_Mutation_p.I196V|PSD3_ENST00000327040.8_Missense_Mutation_p.I730V|PSD3_ENST00000523619.1_Missense_Mutation_p.I665V Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 731 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) TCATTCTTGATTGAGTTGTAC 0.373000 3 88 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060967 12060967 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr19:12060967G>A ENST00000482090.1 + 3 2492 c.2074G>A c.(2074-2076)Gga>Aga p.G692R ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.G710R Q9H0M5 ZN700_HUMAN zinc finger protein 700 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 TAAGGAATGCGGAAAAGCATT 0.383000 3 58 0 0 1 0 0 TSPAN8 7103 broad.mit.edu 37 12 71519144 71519144 + Missense_Mutation SNP C C A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr12:71519144C>A ENST00000393330.2 - 12 1236 c.684G>T c.(682-684)atG>atT p.M228I TSPAN8_ENST00000247829.3_Missense_Mutation_p.M228I|TSPAN8_ENST00000552128.1_Missense_Mutation_p.M145I|TSPAN8_ENST00000546561.1_Missense_Mutation_p.M228I P19075 TSN8_HUMAN tetraspanin 8 228 protein glycosylation integral to membrane|lysosome signal transducer activity breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) AATACAGGACCATAGAAAACA 0.353000 49 73 1.87854e-15 1.98291e-15 1 1 0 CNOT1 23019 broad.mit.edu 37 16 58560012 58560012 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr16:58560012G>A ENST00000317147.5 - 45 6816 c.6484C>T c.(6484-6486)Ccc>Tcc p.P2162S CNOT1_ENST00000245138.4_Missense_Mutation_p.P1013S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P2157S NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2162 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) AGAATCCGGGGAGCAATGTTA 0.378000 32 94 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263440 34263440 + Silent SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr19:34263440C>T ENST00000262622.3 + 4 1505 c.747C>T c.(745-747)agC>agT p.S249S CHST8_ENST00000438847.2_Silent_p.S249S|CHST8_ENST00000434302.1_Silent_p.S249S NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 249 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) ACCGTCTCAGCACCTACACCA 0.602000 8 108 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21646063 21646063 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr18:21646063G>A ENST00000317571.3 + 3 540 c.304G>A c.(304-306)Gct>Act p.A102T TTC39C_ENST00000304621.6_Missense_Mutation_p.A41T|TTC39C_ENST00000578150.1_3'UTR NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 102 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 AAGTGAAGAGGCTGGAGTAAT 0.358000 12 41 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170802927 170802927 + Missense_Mutation SNP T T A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr3:170802927T>A ENST00000436636.2 - 25 3322 c.2978A>T c.(2977-2979)gAt>gTt p.D993V TNIK_ENST00000284483.8_Missense_Mutation_p.D985V|TNIK_ENST00000470834.1_Missense_Mutation_p.D956V|TNIK_ENST00000538048.1_Missense_Mutation_p.D945V|TNIK_ENST00000460047.1_Missense_Mutation_p.D930V|TNIK_ENST00000488470.1_Missense_Mutation_p.D938V|TNIK_ENST00000475336.1_Missense_Mutation_p.D901V|TNIK_ENST00000369326.5_Missense_Mutation_p.D971V|TNIK_ENST00000357327.5_Missense_Mutation_p.D964V|TNIK_ENST00000341852.6_Missense_Mutation_p.D909V NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 993 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TGATTCCTCATCCTCTTCATC 0.478000 5 18 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166536026 166536026 + Silent SNP C C T TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr2:166536026C>T ENST00000314499.7 + 7 1897 c.1521C>T c.(1519-1521)tcC>tcT p.S507S CSRNP3_ENST00000342316.4_Silent_p.S507S|CSRNP3_ENST00000409420.1_Silent_p.S539S NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 507 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 GCTCCTCTTCCGAAAATGATA 0.512000 16 37 0 0 1 0 0 INO80E 283899 broad.mit.edu 37 16 30012109 30012109 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr16:30012109G>A ENST00000563197.1 + 4 1253 c.236G>A c.(235-237)aGc>aAc p.S79N INO80E_ENST00000567254.1_Missense_Mutation_p.S79N|INO80E_ENST00000304516.7_Missense_Mutation_p.S79N|INO80E_ENST00000567705.1_Missense_Mutation_p.S79N NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 79 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 TCAGATAACAGCGAGACGGAG 0.587000 3 58 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140530372 140530372 + Missense_Mutation SNP C C A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr5:140530372C>A ENST00000231136.1 + 1 534 c.534C>A c.(532-534)caC>caA p.H178Q PCDHB6_ENST00000543635.1_Missense_Mutation_p.H42Q NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 178 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCACTTCCACGTTCTCACCC 0.547000 12 357 0.000151284 0.000151284 1 1 0 MID2 11043 broad.mit.edu 37 X 107148766 107148766 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chrX:107148766G>A ENST00000262843.6 + 5 1531 c.983G>A c.(982-984)cGg>cAg p.R328Q MID2_ENST00000443968.2_Missense_Mutation_p.R328Q|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 328 centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 TGTCTTGAACGGTCAACAGTC 0.403000 9 115 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152772037 152772037 + Missense_Mutation SNP G G A TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chrX:152772037G>A ENST00000331595.4 + 5 802 c.616G>A c.(616-618)Gat>Aat p.D206N BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.D145N NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 206 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGAGCCTTCGATGGCCTGAA 0.612000 12 63 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 38 65 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 3 2 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70732321 70732321 + Silent SNP A A G TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr12:70732321A>G ENST00000229195.3 + 10 1578 c.999A>G c.(997-999)aaA>aaG p.K333K CNOT2_ENST00000418359.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR NM_014515.5 NP_055330.1 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 333 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) AGCAGAAAAAAGGGATCCAGG 0.323000 3 107 0 0 1 0 0 RP11-419C5.2 0 broad.mit.edu 37 16 70011854 70011854 + Missense_Mutation SNP T T C rs145494569 by1000genomes TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr16:70011854T>C ENST00000325845.7 - 26 2740 c.671A>G c.(670-672)aAg>aGg p.K224R RP11-419C5.2_ENST00000532298.1_Intron|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 ACTGTGATGCTTGTAGGCAGC 0.522000 6 42 0 0 1 0 0 FAM76A 199870 broad.mit.edu 37 1 28087061 28087062 + Frame_Shift_Del DEL CA CA - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr1:28087061_28087062delCA ENST00000373954.6 + 9 995_996 c.893_894delCA c.(892-894)tfs p.S298fs FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs|FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 298 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) AGCAAGAAGTCAGAGAAGTCAG 0.480 19 17 --- --- --- --- TMC7 79905 broad.mit.edu 37 16 19058506 19058506 + Frame_Shift_Del DEL T T - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d bb3c6413-0dd0-419e-b1a7-6af329df63c7 g.chr16:19058506delT ENST00000421369.3 + 12 1903 c.1345delT c.(1345-1347)ttfs p.F450fs TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs|TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs NM_001160364.1 NP_001153836.1 Q7Z402 TMC7_HUMAN transmembrane channel-like 7 560 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GATCGGAGCCTTTTTCTCACC 0.502 7 752 --- --- --- --- FAM76A 199870 broad.mit.edu 37 1 28087061 28087062 + Frame_Shift_Del DEL CA CA - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr1:28087061_28087062delCA ENST00000373954.6 + 9 995_996 c.893_894delCA c.(892-894)tfs p.S298fs FAM76A_ENST00000234549.7_Frame_Shift_Del_p.S303fs|FAM76A_ENST00000010299.6_Frame_Shift_Del_p.S332fs|FAM76A_ENST00000419687.2_Frame_Shift_Del_p.S218fs|FAM76A_ENST00000373949.1_Frame_Shift_Del_p.S269fs NM_001143912.1|NM_152660.2 NP_001137384.1|NP_689873.1 Q8TAV0 FA76A_HUMAN family with sequence similarity 76, member A 298 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) AGCAAGAAGTCAGAGAAGTCAG 0.480 19 17 --- --- --- --- PRRC2A 7916 broad.mit.edu 37 6 31604005 31604005 + Frame_Shift_Del DEL C C - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr6:31604005delC ENST00000376033.2 + 26 5878 c.5644delC c.(5644-5646)ccfs p.P1883fs PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1883 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 CCTATACCTACCCCCCGGCCC 0.522 7 524 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187646 116187648 + In_Frame_Del DEL GCA GCA - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr9:116187646_116187648delGCA ENST00000288462.4 + 10 1334_1336 c.888_890delGCA c.(886-891)cgg>cg p.RQ296del C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 agcagcagcggcagcagcagcag 0.557 8 67 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 7 122 --- --- --- --- LILRB4 0 broad.mit.edu 37 19 55179244 55179244 + Splice_Site DEL G G - TCGA-BJ-A3PU-01A-11D-A21Z-08 TCGA-BJ-A3PU-11A-11D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx ba44b965-4879-47b7-8501-a0c2e28ed95d 76aa02be-13b4-40c3-bb19-d0cf1c4cc210 g.chr19:55179244delG ENST00000391736.1 + 13 1515 c.1200_splice c.e13+1 p.E400_splice LILRB4_ENST00000391733.3_Splice_Site_p.E401_splice|LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000270452.2_Splice_Site_p.E400_splice|LILRB4_ENST00000430952.2_Splice_Site_p.E399_splice NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 400 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) TGGACACTGAGGTGAGTCCTT 0.617 4 6 --- --- --- ---