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 ZNF571 51276 broad.mit.edu 37 19 38056280 38056280 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr19:38056280C>T ENST00000328550.2 - 4 1149 c.1050G>A c.(1048-1050)ctG>ctA p.L350L ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000451802.2_Silent_p.L350L|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Silent_p.L350L|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Silent_p.L350L|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGTTCATTCAGTTGGGAGG 0.408000 10 45 0 0 0.006214 0 0 VPS13C 54832 broad.mit.edu 37 15 62204152 62204152 + Missense_Mutation SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:62204152G>C ENST00000261517.5 - 63 8675 c.8602C>G c.(8602-8604)Ctg>Gtg p.L2868V VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2868 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGGGAGTCAGGGTAACTATT 0.368000 12 53 0 0 0.001855 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620720 144620720 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr8:144620720G>T ENST00000262577.5 - 2 848 c.817C>A c.(817-819)Cca>Aca p.P273T NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 273 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GACGGAACTGGCTGATCTGTG 0.652000 18 144 3.41278e-10 6.44637e-10 0.004990 1 0 GABRR1 2569 broad.mit.edu 37 6 89888605 89888605 + Silent SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr6:89888605T>G ENST00000435811.1 - 9 1727 c.1273A>C c.(1273-1275)Aga>Cga p.R425R GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 442 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TAGCTGCTTCTCTGACTTTTC 0.478000 14 100 0 0 0.001855 0 0 TRIP4 9325 broad.mit.edu 37 15 64737299 64737299 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:64737299C>G ENST00000261884.3 + 12 1730 c.1670C>G c.(1669-1671)cCa>cGa p.P557R NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 557 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 AAAGGAAATCCAAAAATCTGT 0.348000 11 48 0 0 0.013537 0 0 PCSK6 5046 broad.mit.edu 37 15 101983834 101983834 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:101983834T>C ENST00000348070.1 - 3 325 c.326A>G c.(325-327)tAt>tGt p.Y109C PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 110 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTTGCTGTGATAAAAATGGTA 0.443000 26 169 0 0 0.003330 0 0 ITGB4 3691 broad.mit.edu 37 17 73725380 73725380 + Missense_Mutation SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:73725380T>G ENST00000200181.3 + 7 788 c.601T>G c.(601-603)Ttc>Gtc p.F201V ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 201 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGACCCCCCCTTCTCCTTCAA 0.607000 11 71 0 0 0.001855 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124212379 124212379 + Missense_Mutation SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:124212379A>C ENST00000330342.3 + 6 819 c.571A>C c.(571-573)Atg>Ctg p.M191L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 191 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ATTTGAAAAAATGTTGTGGAG 0.408000 23 61 0 0 0.012319 0 0 PCDHAC1 0 broad.mit.edu 37 5 140308873 140308873 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:140308873G>T ENST00000253807.2 + 1 2396 c.2396G>T c.(2395-2397)cGg>cTg p.R799L PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R799L|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCAGATTCGGAATAGGAAA 0.453000 4 133 0.000602214 0.00109689 0.000602 1 0 SGCD 6444 broad.mit.edu 37 5 155935636 155935636 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:155935636C>G ENST00000435422.3 + 3 702 c.215C>G c.(214-216)aCa>aGa p.T72R SGCD_ENST00000337851.4_Missense_Mutation_p.T73R|SGCD_ENST00000447401.1_Missense_Mutation_p.T73R|SGCD_ENST00000517913.1_Missense_Mutation_p.T73R NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 72 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAGGATCACAGAAAAAGGT 0.413000 13 45 0 0 0.001855 0 0 OR6T1 219874 broad.mit.edu 37 11 123813655 123813655 + Silent SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr11:123813655C>A ENST00000321252.2 - 1 925 c.891G>T c.(889-891)gtG>gtT p.V297V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGCTTGCTGCACCTTGTCAT 0.502000 26 295 2.65835e-16 5.31669e-16 0.007291 1 0 NWD1 284434 broad.mit.edu 37 19 16902377 16902377 + Missense_Mutation SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr19:16902377T>G ENST00000524140.2 + 14 3575 c.3157T>G c.(3157-3159)Tca>Gca p.S1053A NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A|NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1053 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTGTGCCGTCTCAGTCCAGAA 0.478000 13 141 0 0 0.002450 0 0 CD248 57124 broad.mit.edu 37 11 66083697 66083697 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr11:66083697C>G ENST00000311330.3 - 1 818 c.802G>C c.(802-804)Ggg>Cgg p.G268R RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 268 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CAACTGCGCCCGTCTGCTGCC 0.672000 7 40 0 0 0.003080 0 0 SMAD6 4091 broad.mit.edu 37 15 67073658 67073658 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:67073658G>T ENST00000288840.5 + 4 2307 c.1276G>T c.(1276-1278)Gtc>Ttc p.V426F SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 426 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCGCGCCCTGGTCGTGCGCAA 0.731000 9 42 2.52707e-12 4.95694e-12 0.006214 1 0 BRE 9577 broad.mit.edu 37 2 28550226 28550226 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr2:28550226C>G ENST00000344773.2 + 12 1312 c.1174C>G c.(1174-1176)Cag>Gag p.Q392E BRE_ENST00000379632.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000361704.2_Intron NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 0 apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CAAGCTGCTCCAGCCCCAGAG 0.557000 29 182 0 0 0.009535 0 0 TNS4 84951 broad.mit.edu 37 17 38638448 38638448 + Silent SNP A A T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:38638448A>T ENST00000254051.6 - 8 1763 c.1605T>A c.(1603-1605)tcT>tcA p.S535S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 535 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACACGAAGGCAGAGAGGCTCC 0.622000 4 47 0 0 0.000602 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533202 94533202 + Silent SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr11:94533202G>T ENST00000433060.2 + 3 987 c.846G>T c.(844-846)tcG>tcT p.S282S AMOTL1_ENST00000317829.8_Silent_p.S232S|AMOTL1_ENST00000317837.9_Silent_p.S282S NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 282 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) TTCCCGGCTCGGGGAATGGAA 0.627000 4 132 0.000602214 0.00109689 0.000602 1 0 ASCC2 84164 broad.mit.edu 37 22 30221628 30221628 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr22:30221628C>T ENST00000397771.2 - 4 400 c.223G>A c.(223-225)Gat>Aat p.D75N ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.D75N Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CAGAATTTATCGTGAGGCAAG 0.502000 10 102 0 0 0.008291 0 0 IRF8 3394 broad.mit.edu 37 16 85936654 85936654 + Silent SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr16:85936654A>C ENST00000268638.5 + 2 455 c.33A>C c.(31-33)cgA>cgC p.R11R IRF8_ENST00000563180.1_Silent_p.R11R NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 11 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GGCGGCTTCGACAGTGGCTGA 0.488000 27 167 0 0 0.012213 0 0 CNPY4 245812 broad.mit.edu 37 7 99720144 99720144 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr7:99720144C>T ENST00000262932.3 + 3 418 c.286C>T c.(286-288)Cgg>Tgg p.R96W RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR NM_152755.1 NP_689968.1 Q8N129 CNPY4_HUMAN canopy FGF signaling regulator 4 96 extracellular region breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TTTATGTGAGCGGATCCTGGA 0.522000 75 190 0 0 0.014410 0 0 CDK13 8621 broad.mit.edu 37 7 40132728 40132728 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr7:40132728C>G ENST00000181839.4 + 13 4185 c.3580C>G c.(3580-3582)Cag>Gag p.Q1194E CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1194 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AATAAAGGCTCAGCAGTCAAA 0.502000 32 165 0 0 0.008361 0 0 TP53 7157 broad.mit.edu 37 17 7578404 7578404 + Missense_Mutation SNP A A G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:7578404A>G ENST00000420246.2 - 5 658 c.526T>C c.(526-528)Tgc>Cgc p.C176R TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000455263.2_Missense_Mutation_p.C176R|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGGGGGCAGCGCCTCACA 0.647000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 56 0 0 0.010504 0 0 TYW1 55253 broad.mit.edu 37 7 66489943 66489943 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr7:66489943G>A ENST00000359626.5 + 7 1082 c.918G>A c.(916-918)caG>caA p.Q306Q NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 306 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) AGGACCATCAGAGCCTAAATT 0.418000 6 120 0 0 0.001168 0 0 LEPREL4 10609 broad.mit.edu 37 17 39968157 39968157 + Missense_Mutation SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr17:39968157A>C ENST00000355468.3 - 2 477 c.11T>G c.(10-12)gTg>gGg p.V4G LEPREL4_ENST00000393928.1_Missense_Mutation_p.V4G Q92791 SC65_HUMAN leprecan-like 4 4 synaptonemal complex assembly nucleolus|synaptonemal complex binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CCCCCACGCCACCCGAGCCAT 0.781000 4 2 0 0 0.000602 0 0 TRIO 7204 broad.mit.edu 37 5 14508079 14508079 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:14508079T>C ENST00000344204.4 + 57 8866 c.8842T>C c.(8842-8844)Tac>Cac p.Y2948H TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H|TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2948 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CACGACCTACTACATCCACCA 0.517000 9 65 0 0 0.006214 0 0 NCAM2 4685 broad.mit.edu 37 21 22782676 22782676 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr21:22782676G>A ENST00000400546.1 + 10 1527 c.1278G>A c.(1276-1278)tcG>tcA p.S426S NCAM2_ENST00000284894.7_Silent_p.S284S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 426 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATGTGAAATCGAATCCACCAG 0.323000 29 80 0 0 0.008361 0 0 CDCA7L 55536 broad.mit.edu 37 7 21942672 21942672 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr7:21942672C>T ENST00000406877.3 - 9 1537 c.1258G>A c.(1258-1260)Ggc>Agc p.G420S CDCA7L_ENST00000356195.5_Missense_Mutation_p.G386S|CDCA7L_ENST00000373934.4_Missense_Mutation_p.G374S NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 420 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GCACAGCGGCCGTCACGCTTC 0.483000 7 80 0 0 0.004482 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50658944 50658944 + Missense_Mutation SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr22:50658944G>C ENST00000439308.2 - 16 4336 c.3844C>G c.(3844-3846)Ctc>Gtc p.L1282V TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1282 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCTGGTGAGAGAGCCCCCAGC 0.652000 6 27 0 0 0.001984 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10145972 10145972 + Missense_Mutation SNP A A G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:10145972A>G ENST00000450660.2 - 2 703 c.487T>C c.(487-489)Tat>Cat p.Y163H FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H NM_001164839.1 NP_001158311.1 FANCD2 opposite strand TAAGTTGCATACAGCAAGAGG 0.483000 33 77 0 0 0.010818 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 68 0 0 0.009096 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156937915 156937915 + Splice_Site SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:156937915G>A ENST00000368194.3 - 11 1866 c.825_splice c.e11-1 p.S276_splice ARHGEF11_ENST00000361409.2_Splice_Site_p.S236_splice NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 236 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATTCATCAATGACTAGAGAAA 0.517000 15 46 0 0 0.002450 0 0 CEP76 79959 broad.mit.edu 37 18 12678245 12678245 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr18:12678245T>C ENST00000262127.2 - 10 1711 c.1486A>G c.(1486-1488)Att>Gtt p.I496V CEP76_ENST00000423709.2_Missense_Mutation_p.I421V|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 496 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGATTTAATTGCTTCCTCA 0.433000 40 122 0 0 0.008740 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:97887879T>C ENST00000356526.2 + 1 336 c.336T>C c.(334-336)tgT>tgC p.C112C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCACAGAATGTTTTCTCTTGG 0.378000 4 239 0 0 0.003080 0 0 PCDHA12 0 broad.mit.edu 37 5 140256229 140256229 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr5:140256229C>T ENST00000398631.2 + 1 1172 c.1172C>T c.(1171-1173)cCt>cTt p.P391L PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACTGACACCTCATGTTCCC 0.567000 21 135 0 0 0.010504 0 0 CLK2 1196 broad.mit.edu 37 1 155240637 155240637 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:155240637C>T ENST00000368361.4 - 2 447 c.132G>A c.(130-132)cgG>cgA p.R44R CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R|CLK2_ENST00000536801.1_Silent_p.R44R P49760 CLK2_HUMAN CDC-like kinase 2 44 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTCGCCGACGCCGTCGTGTCC 0.552000 Other conserved DNA damage response genes 16 215 0 0 0.004990 0 0 LILRA1 11024 broad.mit.edu 37 19 55106382 55106382 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr19:55106382C>T ENST00000453777.1 + 4 493 c.323C>T c.(322-324)tCa>tTa p.S108L LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 108 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCAGGCTGGTCAGAGCCCAGT 0.612000 28 72 0 0 0.006320 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 134 0 0 0.000602 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 78 0 0 0.004672 0 0 SLC44A5 204962 broad.mit.edu 37 1 75708580 75708580 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:75708580C>T ENST00000370855.5 - 8 575 c.462G>A c.(460-462)aaG>aaA p.K154K SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 154 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCTTCACAGGCTTAGCAGTGG 0.368000 16 170 0 0 0.006122 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 134 0 0 0.000602 0 0 GRIP2 80852 broad.mit.edu 37 3 14561979 14561979 + RNA SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:14561979C>G ENST00000273083.3 - 0 843 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 AGCGAGATCCCCAGGGCAGAC 0.552000 8 37 0 0 0.004482 0 0 GRIA2 2891 broad.mit.edu 37 4 158254022 158254022 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr4:158254022C>T ENST00000296526.7 + 7 1259 c.934C>T c.(934-936)Cgc>Tgc p.R312C GRIA2_ENST00000393815.2_Missense_Mutation_p.R265C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R265C|GRIA2_ENST00000264426.9_Missense_Mutation_p.R312C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R265C NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 312 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGAAGCCTTCCGCAACCTAAG 0.468000 35 124 0 0 0.003755 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136405789 136405789 + Missense_Mutation SNP T T A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr9:136405789T>A ENST00000393061.3 + 6 1241 c.809T>A c.(808-810)cTc>cAc p.L270H ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H Q86TH1 ATL2_HUMAN ADAMTS-like 2 161 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CAGCGGCAGCTCATGGTCCCC 0.557000 18 54 0 0 0.010504 0 0 LOXL3 84695 broad.mit.edu 37 2 74762839 74762839 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr2:74762839T>C ENST00000264094.3 - 8 1363 c.1292A>G c.(1291-1293)gAg>gGg p.E431G LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 431 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 TATTTGCACCTCGACTCGCCC 0.622000 3 90 0 0 0.009096 0 0 TMEM63A 9725 broad.mit.edu 37 1 226059717 226059717 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr1:226059717G>A ENST00000366835.3 - 5 573 c.303C>T c.(301-303)tcC>tcT p.S101S NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 101 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) GTTGACCTGAGGAGGAAGTCG 0.438000 4 22 0 0 0.009096 0 0 PCDHAC1 0 broad.mit.edu 37 5 140308873 140308873 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr5:140308873G>T ENST00000253807.2 + 1 2396 c.2396G>T c.(2395-2397)cGg>cTg p.R799L PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R799L|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCAGATTCGGAATAGGAAA 0.453000 4 133 0.000602214 0.000996391 0.000602 1 0 TNS4 84951 broad.mit.edu 37 17 38638448 38638448 + Silent SNP A A T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr17:38638448A>T ENST00000254051.6 - 8 1763 c.1605T>A c.(1603-1605)tcT>tcA p.S535S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 535 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) ACACGAAGGCAGAGAGGCTCC 0.622000 4 47 0 0 0.000602 0 0 ZNF571 51276 broad.mit.edu 37 19 38056280 38056280 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr19:38056280C>T ENST00000328550.2 - 4 1149 c.1050G>A c.(1048-1050)ctG>ctA p.L350L ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000451802.2_Silent_p.L350L|ZNF571_ENST00000593133.1_Silent_p.L350L|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000358744.3_Silent_p.L350L|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGTTCATTCAGTTGGGAGG 0.408000 10 45 0 0 0.006214 0 0 VPS13C 54832 broad.mit.edu 37 15 62204152 62204152 + Missense_Mutation SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr15:62204152G>C ENST00000261517.5 - 63 8675 c.8602C>G c.(8602-8604)Ctg>Gtg p.L2868V VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2868 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AAGGGAGTCAGGGTAACTATT 0.368000 12 53 0 0 0.001855 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620720 144620720 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr8:144620720G>T ENST00000262577.5 - 2 848 c.817C>A c.(817-819)Cca>Aca p.P273T NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 273 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GACGGAACTGGCTGATCTGTG 0.652000 18 144 3.41278e-10 5.85968e-10 0.004990 1 0 GABRR1 2569 broad.mit.edu 37 6 89888605 89888605 + Silent SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr6:89888605T>G ENST00000435811.1 - 9 1727 c.1273A>C c.(1273-1275)Aga>Cga p.R425R GABRR1_ENST00000369451.3_Silent_p.R355R|GABRR1_ENST00000454853.2_Silent_p.R442R NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 442 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) TAGCTGCTTCTCTGACTTTTC 0.478000 14 100 0 0 0.001855 0 0 TRIP4 9325 broad.mit.edu 37 15 64737299 64737299 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr15:64737299C>G ENST00000261884.3 + 12 1730 c.1670C>G c.(1669-1671)cCa>cGa p.P557R NM_016213.4 NP_057297.2 Q15650 TRIP4_HUMAN thyroid hormone receptor interactor 4 557 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 AAAGGAAATCCAAAAATCTGT 0.348000 11 48 0 0 0.013537 0 0 PCSK6 5046 broad.mit.edu 37 15 101983834 101983834 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr15:101983834T>C ENST00000348070.1 - 3 325 c.326A>G c.(325-327)tAt>tGt p.Y109C PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 110 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTTGCTGTGATAAAAATGGTA 0.443000 26 169 0 0 0.003330 0 0 ITGB4 3691 broad.mit.edu 37 17 73725380 73725380 + Missense_Mutation SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr17:73725380T>G ENST00000200181.3 + 7 788 c.601T>G c.(601-603)Ttc>Gtc p.F201V ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 201 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGACCCCCCCTTCTCCTTCAA 0.607000 11 71 0 0 0.001855 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124212379 124212379 + Missense_Mutation SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr12:124212379A>C ENST00000330342.3 + 6 819 c.571A>C c.(571-573)Atg>Ctg p.M191L NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 191 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) ATTTGAAAAAATGTTGTGGAG 0.408000 23 61 0 0 0.012319 0 0 SGCD 6444 broad.mit.edu 37 5 155935636 155935636 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr5:155935636C>G ENST00000435422.3 + 3 702 c.215C>G c.(214-216)aCa>aGa p.T72R SGCD_ENST00000447401.1_Missense_Mutation_p.T73R|SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 72 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAGGATCACAGAAAAAGGT 0.413000 13 45 0 0 0.001855 0 0 OR6T1 219874 broad.mit.edu 37 11 123813655 123813655 + Silent SNP C C A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr11:123813655C>A ENST00000321252.2 - 1 925 c.891G>T c.(889-891)gtG>gtT p.V297V NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GTGCTTGCTGCACCTTGTCAT 0.502000 26 295 2.65835e-16 4.83819e-16 0.007291 1 0 NWD1 284434 broad.mit.edu 37 19 16902377 16902377 + Missense_Mutation SNP T T G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr19:16902377T>G ENST00000524140.2 + 14 3575 c.3157T>G c.(3157-3159)Tca>Gca p.S1053A NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A|NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1053 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTGTGCCGTCTCAGTCCAGAA 0.478000 13 141 0 0 0.002450 0 0 CD248 57124 broad.mit.edu 37 11 66083697 66083697 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr11:66083697C>G ENST00000311330.3 - 1 818 c.802G>C c.(802-804)Ggg>Cgg p.G268R RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 268 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CAACTGCGCCCGTCTGCTGCC 0.672000 7 40 0 0 0.003080 0 0 SMAD6 4091 broad.mit.edu 37 15 67073658 67073658 + Missense_Mutation SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr15:67073658G>T ENST00000288840.5 + 4 2307 c.1276G>T c.(1276-1278)Gtc>Ttc p.V426F SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 426 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCGCGCCCTGGTCGTGCGCAA 0.731000 9 42 2.52707e-12 4.50908e-12 0.006214 1 0 BRE 9577 broad.mit.edu 37 2 28550226 28550226 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr2:28550226C>G ENST00000344773.2 + 12 1312 c.1174C>G c.(1174-1176)Cag>Gag p.Q392E BRE_ENST00000379632.2_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000342045.2_Intron|BRE_ENST00000379624.1_Intron NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 0 apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CAAGCTGCTCCAGCCCCAGAG 0.557000 29 182 0 0 0.009535 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533202 94533202 + Silent SNP G G T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr11:94533202G>T ENST00000433060.2 + 3 987 c.846G>T c.(844-846)tcG>tcT p.S282S AMOTL1_ENST00000317829.8_Silent_p.S232S|AMOTL1_ENST00000317837.9_Silent_p.S282S NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 282 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) TTCCCGGCTCGGGGAATGGAA 0.627000 4 132 0.000602214 0.000996391 0.000602 1 0 ASCC2 84164 broad.mit.edu 37 22 30221628 30221628 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr22:30221628C>T ENST00000397771.2 - 4 400 c.223G>A c.(223-225)Gat>Aat p.D75N ASCC2_ENST00000307790.3_Missense_Mutation_p.D75N|ASCC2_ENST00000542393.1_Intron Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) CAGAATTTATCGTGAGGCAAG 0.502000 10 102 0 0 0.008291 0 0 IRF8 3394 broad.mit.edu 37 16 85936654 85936654 + Silent SNP A A C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr16:85936654A>C ENST00000268638.5 + 2 455 c.33A>C c.(31-33)cgA>cgC p.R11R IRF8_ENST00000563180.1_Silent_p.R11R NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 11 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) GGCGGCTTCGACAGTGGCTGA 0.488000 27 167 0 0 0.012213 0 0 TP53 7157 broad.mit.edu 37 17 7578404 7578404 + Missense_Mutation SNP A A G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr17:7578404A>G ENST00000420246.2 - 5 658 c.526T>C c.(526-528)Tgc>Cgc p.C176R TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000455263.2_Missense_Mutation_p.C176R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGGGGGCAGCGCCTCACA 0.647000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 22 56 0 0 0.010504 0 0 CDK13 8621 broad.mit.edu 37 7 40132728 40132728 + Missense_Mutation SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr7:40132728C>G ENST00000181839.4 + 13 4185 c.3580C>G c.(3580-3582)Cag>Gag p.Q1194E CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 1194 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AATAAAGGCTCAGCAGTCAAA 0.502000 32 165 0 0 0.008361 0 0 TYW1 55253 broad.mit.edu 37 7 66489943 66489943 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr7:66489943G>A ENST00000359626.5 + 7 1082 c.918G>A c.(916-918)caG>caA p.Q306Q NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 306 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) AGGACCATCAGAGCCTAAATT 0.418000 6 120 0 0 0.001168 0 0 TRIO 7204 broad.mit.edu 37 5 14508079 14508079 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr5:14508079T>C ENST00000344204.4 + 57 8866 c.8842T>C c.(8842-8844)Tac>Cac p.Y2948H TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H|TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2948 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CACGACCTACTACATCCACCA 0.517000 9 65 0 0 0.006214 0 0 NCAM2 4685 broad.mit.edu 37 21 22782676 22782676 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr21:22782676G>A ENST00000400546.1 + 10 1527 c.1278G>A c.(1276-1278)tcG>tcA p.S426S NCAM2_ENST00000284894.7_Silent_p.S284S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 426 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATGTGAAATCGAATCCACCAG 0.323000 29 80 0 0 0.008361 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 26 0 0 0.009096 0 0 CDCA7L 55536 broad.mit.edu 37 7 21942672 21942672 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr7:21942672C>T ENST00000406877.3 - 9 1537 c.1258G>A c.(1258-1260)Ggc>Agc p.G420S CDCA7L_ENST00000373934.4_Missense_Mutation_p.G374S|CDCA7L_ENST00000356195.5_Missense_Mutation_p.G386S NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 420 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 GCACAGCGGCCGTCACGCTTC 0.483000 7 80 0 0 0.004482 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50658944 50658944 + Missense_Mutation SNP G G C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr22:50658944G>C ENST00000439308.2 - 16 4336 c.3844C>G c.(3844-3846)Ctc>Gtc p.L1282V TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1282 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) TCTGGTGAGAGAGCCCCCAGC 0.652000 6 27 0 0 0.001984 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10145972 10145972 + Missense_Mutation SNP A A G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr3:10145972A>G ENST00000450660.2 - 2 703 c.487T>C c.(487-489)Tat>Cat p.Y163H FANCD2OS_ENST00000524279.1_Missense_Mutation_p.Y163H NM_001164839.1 NP_001158311.1 FANCD2 opposite strand TAAGTTGCATACAGCAAGAGG 0.483000 33 77 0 0 0.010818 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156937915 156937915 + Splice_Site SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr1:156937915G>A ENST00000368194.3 - 11 1866 c.825_splice c.e11-1 p.S276_splice ARHGEF11_ENST00000361409.2_Splice_Site_p.S236_splice NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 236 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATTCATCAATGACTAGAGAAA 0.517000 15 46 0 0 0.002450 0 0 CEP76 79959 broad.mit.edu 37 18 12678245 12678245 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr18:12678245T>C ENST00000262127.2 - 10 1711 c.1486A>G c.(1486-1488)Att>Gtt p.I496V RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.I421V NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 496 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACAGATTTAATTGCTTCCTCA 0.433000 40 122 0 0 0.008740 0 0 PCDHA12 0 broad.mit.edu 37 5 140256229 140256229 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr5:140256229C>T ENST00000398631.2 + 1 1172 c.1172C>T c.(1171-1173)cCt>cTt p.P391L PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACTGACACCTCATGTTCCC 0.567000 21 135 0 0 0.010504 0 0 LILRA1 11024 broad.mit.edu 37 19 55106382 55106382 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr19:55106382C>T ENST00000453777.1 + 4 493 c.323C>T c.(322-324)tCa>tTa p.S108L LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 108 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCAGGCTGGTCAGAGCCCAGT 0.612000 28 72 0 0 0.006320 0 0 CLK2 1196 broad.mit.edu 37 1 155240637 155240637 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr1:155240637C>T ENST00000368361.4 - 2 447 c.132G>A c.(130-132)cgG>cgA p.R44R CLK2_ENST00000361168.5_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R|CLK2_ENST00000536801.1_Silent_p.R44R P49760 CLK2_HUMAN CDC-like kinase 2 44 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTCGCCGACGCCGTCGTGTCC 0.552000 Other conserved DNA damage response genes 16 215 0 0 0.004990 0 0 SLC44A5 204962 broad.mit.edu 37 1 75708580 75708580 + Silent SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr1:75708580C>T ENST00000370855.5 - 8 575 c.462G>A c.(460-462)aaG>aaA p.K154K SLC44A5_ENST00000535611.1_Silent_p.K24K|SLC44A5_ENST00000370859.3_Silent_p.K154K NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 154 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CCTTCACAGGCTTAGCAGTGG 0.368000 16 170 0 0 0.006122 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000538617.1_Intron P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 134 0 0 0.000602 0 0 GRIP2 80852 broad.mit.edu 37 3 14561979 14561979 + RNA SNP C C G TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr3:14561979C>G ENST00000273083.3 - 0 843 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 AGCGAGATCCCCAGGGCAGAC 0.552000 8 37 0 0 0.004482 0 0 GRIA2 2891 broad.mit.edu 37 4 158254022 158254022 + Missense_Mutation SNP C C T TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr4:158254022C>T ENST00000296526.7 + 7 1259 c.934C>T c.(934-936)Cgc>Tgc p.R312C GRIA2_ENST00000393815.2_Missense_Mutation_p.R265C|GRIA2_ENST00000264426.9_Missense_Mutation_p.R312C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R265C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R265C NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 312 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGAAGCCTTCCGCAACCTAAG 0.468000 35 124 0 0 0.003755 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136405789 136405789 + Missense_Mutation SNP T T A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr9:136405789T>A ENST00000393061.3 + 6 1241 c.809T>A c.(808-810)cTc>cAc p.L270H ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H Q86TH1 ATL2_HUMAN ADAMTS-like 2 161 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) CAGCGGCAGCTCATGGTCCCC 0.557000 18 54 0 0 0.010504 0 0 LOXL3 84695 broad.mit.edu 37 2 74762839 74762839 + Missense_Mutation SNP T T C TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr2:74762839T>C ENST00000264094.3 - 8 1363 c.1292A>G c.(1291-1293)gAg>gGg p.E431G LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G|LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 431 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 TATTTGCACCTCGACTCGCCC 0.622000 3 90 0 0 0.009096 0 0 TMEM63A 9725 broad.mit.edu 37 1 226059717 226059717 + Silent SNP G G A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr1:226059717G>A ENST00000366835.3 - 5 573 c.303C>T c.(301-303)tcC>tcT p.S101S NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 101 integral to membrane|lysosomal membrane nucleotide binding breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) GTTGACCTGAGGAGGAAGTCG 0.438000 4 22 0 0 0.009096 0 0 CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893081 + RNA DEL A A - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr2:130893081delA ENST00000427638.1 + 0 542 NR_033903.1 actccatctcaaaaaaaaaaa 0.562 2 4 --- --- --- --- GPX1 2876 broad.mit.edu 37 3 49395674 49395676 + In_Frame_Del DEL GCC GCC - rs56041243 TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr3:49395674_49395676delGCC ENST00000419783.1 - 1 357_359 c.36_38delGGC c.(34-39)gcc>gc p.AA12del GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 12 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding p.A12_A13delAA(1) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccg 0.690 3 5 --- --- --- --- SNAPC4 6621 broad.mit.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs34222232 TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr9:139277995_139277997delGCT ENST00000298532.2 - 15 1992_1994 c.1624_1626delAGC c.(1624-1626)del p.S542del NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 542 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.S542delS(2) biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGTCCTCCTCgctgctgctgctg 0.690 7 17 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46246100 46246100 + Frame_Shift_Del DEL T T - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:46246100delT ENST00000334344.6 + 15 4366 c.4194delT c.(4192-4194)acfs p.T1398fs ARID2_ENST00000457135.1_Frame_Shift_Del_p.T6fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.T1008fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.T1249fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1398 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) CACAAGGGACTTTAGATATCA 0.368 """N, S, F""" hepatocellular carcinoma 13 64 --- --- --- --- CD63 0 broad.mit.edu 37 12 56119956 56119956 + Frame_Shift_Del DEL A A - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr12:56119956delA ENST00000549117.1 - 6 952 c.516delT c.(514-516)aafs p.N172fs CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs NM_001257389.1 NP_001244318.1 P08962 CD63_HUMAN CD63 molecule 172 platelet activation|platelet degranulation integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane kidney(1)|large_intestine(3)|lung(2)|ovary(1) 7 CCACAGTAACATTAATGCAGC 0.498 13 99 --- --- --- --- INO80 54617 broad.mit.edu 37 15 41319812 41319813 + Frame_Shift_Ins INS - - A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr15:41319812_41319813insA ENST00000361937.3 - 25 3453_3454 c.3029_3030insT c.(3028-3030)ttgfs p.L1010fs RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Frame_Shift_Ins_p.L1010fs Q9ULG1 INO80_HUMAN INO80 complex subunit 1010 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGCCACACACAAAAAAGATGG 0.470 11 70 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831219 72831223 + Frame_Shift_Del DEL GCAGG GCAGG - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chr16:72831219_72831223delGCAGG ENST00000268489.5 - 9 6030_6034 c.5358_5362delCCTGC c.(5356-5364)actgfs p.TLL1786fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.TLL872fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1786 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) TGTAGTTGCAGCAGGGTCTCAGTTG 0.580 7 146 --- --- --- --- TSPAN7 7102 broad.mit.edu 37 X 38525456 38525456 + Frame_Shift_Del DEL T T - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chrX:38525456delT ENST00000378482.2 + 2 340 c.163delT c.(163-165)ccfs p.S55fs TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 55 interspecies interaction between organisms integral to plasma membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCCGAGAACTCCACAAATGC 0.512 17 38 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5fcb803a-2051-46ce-bd29-cc6ad5825bcd g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 5 10 --- --- --- --- CCDC74B-AS1 0 broad.mit.edu 37 2 130893081 130893081 + RNA DEL A A - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr2:130893081delA ENST00000427638.1 + 0 542 NR_033903.1 actccatctcaaaaaaaaaaa 0.562 2 4 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46246100 46246100 + Frame_Shift_Del DEL T T - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr12:46246100delT ENST00000334344.6 + 15 4366 c.4194delT c.(4192-4194)acfs p.T1398fs ARID2_ENST00000457135.1_Frame_Shift_Del_p.T6fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.T1249fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.T1008fs NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1398 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) CACAAGGGACTTTAGATATCA 0.368 """N, S, F""" hepatocellular carcinoma 13 64 --- --- --- --- INO80 54617 broad.mit.edu 37 15 41319812 41319813 + Frame_Shift_Ins INS - - A TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr15:41319812_41319813insA ENST00000361937.3 - 25 3453_3454 c.3029_3030insT c.(3028-3030)ttgfs p.L1010fs INO80_ENST00000401393.3_Frame_Shift_Ins_p.L1010fs|RP11-540O11.4_ENST00000560178.1_RNA Q9ULG1 INO80_HUMAN INO80 complex subunit 1010 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGGCCACACACAAAAAAGATGG 0.470 11 70 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72831219 72831223 + Frame_Shift_Del DEL GCAGG GCAGG - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chr16:72831219_72831223delGCAGG ENST00000268489.5 - 9 6030_6034 c.5358_5362delCCTGC c.(5356-5364)actgfs p.TLL1786fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.TLL872fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1786 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) TGTAGTTGCAGCAGGGTCTCAGTTG 0.580 7 146 --- --- --- --- TSPAN7 7102 broad.mit.edu 37 X 38525456 38525456 + Frame_Shift_Del DEL T T - TCGA-G9-6499-01A-12D-1961-08 TCGA-G9-6499-11A-02D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3fa7c553-f043-4ce7-9587-bb7ffc8d4b65 5895ffb1-af15-44ed-bd87-f78efc38c41d g.chrX:38525456delT ENST00000378482.2 + 2 340 c.163delT c.(163-165)ccfs p.S55fs TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 55 interspecies interaction between organisms integral to plasma membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCCGAGAACTCCACAAATGC 0.512 17 38 --- --- --- ---