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 MAP4 4134 broad.mit.edu 37 3 47958147 47958147 + Silent SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr3:47958147C>T ENST00000426837.2 - 8 1308 c.1221G>A c.(1219-1221)ttG>ttA p.L407L MAP4_ENST00000395734.3_Silent_p.L390L|MAP4_ENST00000360240.6_Silent_p.L390L|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 390 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity p.L390L(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGGAAGGAGCCAAGTCCATTT 0.448000 4 164 0 0 1 0 0 PATE2 399967 broad.mit.edu 37 11 125647896 125647896 + Splice_Site SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr11:125647896C>T ENST00000358524.3 - 3 123 c.76_splice c.e3-1 p.A26_splice PATE2_ENST00000436890.2_Intron NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 26 extracellular space p.A26A(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 TTATTTCAGTCGCTGCCAGAT 0.438000 21 36 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76576719 76576719 + Missense_Mutation SNP A A T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr6:76576719A>T ENST00000369981.3 + 18 2120 c.1841A>T c.(1840-1842)gAt>gTt p.D614V MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369977.3_Missense_Mutation_p.D614V Q9UM54 MYO6_HUMAN myosin VI 614 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GAATCCAGAGATAAGTTTATA 0.318000 12 24 0 0 1 0 0 COL8A2 1296 broad.mit.edu 37 1 36563588 36563588 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr1:36563588C>T ENST00000397799.1 - 4 1918 c.1694G>A c.(1693-1695)gGg>gAg p.G565E COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 565 Nonhelical region (NC1). angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTCGCCCAGCCCAAACTGTGG 0.677000 7 15 0 0 1 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40849769 40849769 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr17:40849769C>T ENST00000264638.4 + 22 3983 c.3766C>T c.(3766-3768)Ctt>Ttt p.L1256F CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 1256 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) TATGCCACGTCTTGTTTCAGA 0.562000 5 123 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 71 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9167356 9167356 + Missense_Mutation SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr11:9167356G>A ENST00000328194.3 - 17 3184 c.2864C>T c.(2863-2865)cCg>cTg p.P955L DENND5A_ENST00000530044.1_Missense_Mutation_p.P955L|DENND5A_ENST00000527700.1_Missense_Mutation_p.P298L NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 955 PLAT. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AATGTGGTACGGGATCACTGT 0.498000 4 238 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185681525 185681525 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr4:185681525C>T ENST00000515030.1 - 18 2093 c.1768G>A c.(1768-1770)Gga>Aga p.G590R ACSL1_ENST00000504342.1_Missense_Mutation_p.G590R|ACSL1_ENST00000437665.3_Missense_Mutation_p.G419R|ACSL1_ENST00000281455.2_Missense_Mutation_p.G590R|ACSL1_ENST00000507295.1_Missense_Mutation_p.G556R|ACSL1_ENST00000513317.1_Missense_Mutation_p.G590R|ACSL1_ENST00000454703.2_Missense_Mutation_p.G419R P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 590 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AGGCTTTCTCCGTGGACAAAC 0.443000 7 228 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911368 88911368 + Missense_Mutation SNP G G A rs149684917 TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr11:88911368G>A ENST00000263321.5 + 1 749 c.247G>A c.(247-249)Gtc>Atc p.V83I TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 83 eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) GTGGCCTTCCGTCTTTTATAA 0.512000 3 33 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35084650 35084650 + Missense_Mutation SNP A A T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr5:35084650A>T ENST00000382002.5 - 5 721 c.295T>A c.(295-297)Tac>Aac p.Y99N PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N|PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 99 Fibronectin type-III 1. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATCATGATGTATGTCCTCCAC 0.483000 4 128 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100382037 100382037 + Missense_Mutation SNP A A G rs143815159 TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr1:100382037A>G ENST00000294724.4 + 32 4809 c.4331A>G c.(4330-4332)aAt>aGt p.N1444S AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1444 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) AAAGGTTTCAATTATCACCAA 0.264000 7 30 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18082059 18082059 + Missense_Mutation SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr17:18082059G>A ENST00000418233.3 + 24 2934 c.2312G>A c.(2311-2313)cGt>cAt p.R771H RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000205890.5_Intron|RP11-258F1.1_ENST00000583062.1_RNA|MYO15A_ENST00000451725.2_3'UTR Q9UKN7 MYO15_HUMAN myosin XVA 0 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TTGGATGGGCGTGGACTGTCA 0.577000 13 38 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113267504 113267504 + Missense_Mutation SNP C C A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr8:113267504C>A ENST00000297405.5 - 62 10259 c.10015G>T c.(10015-10017)Ggt>Tgt p.G3339C CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3339 Sushi 26. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGTGATGAACCACTCCAAGTG 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 19 52 5.26018e-13 5.53703e-13 1 1 0 GRID1 2894 broad.mit.edu 37 10 87362425 87362425 + Missense_Mutation SNP G G T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr10:87362425G>T ENST00000327946.7 - 16 2720 c.2635C>A c.(2635-2637)Cgc>Agc p.R879S GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|GRID1_ENST00000552278.2_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 879 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGTTCATGCGCCGGTGGACC 0.577000 Multiple Myeloma(13;0.14) 3 20 0.150653 0.150653 1 1 0 FLNC 2318 broad.mit.edu 37 7 128484983 128484983 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr7:128484983C>T ENST00000325888.8 + 21 3725 c.3464C>T c.(3463-3465)cCg>cTg p.P1155L FLNC_ENST00000346177.6_Missense_Mutation_p.P1155L NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1155 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding p.P1155L(1) biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGTTTGACCCGAGCAAGGTG 0.652000 6 57 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517106 20517106 + Missense_Mutation SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr1:20517106G>A ENST00000375099.3 + 2 136 c.52G>A c.(52-54)Gtc>Atc p.V18I NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 18 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 TAGCACTGTTGTCAGCACAGC 0.517000 18 76 0 0 1 0 0 OR10J5 127385 broad.mit.edu 37 1 159505100 159505100 + Missense_Mutation SNP C C T rs141462119 TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr1:159505100C>T ENST00000334857.2 - 1 742 c.698G>A c.(697-699)cGg>cAg p.R233Q NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 233 R -> W (in dbSNP:rs35393723). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GGTCTTCTTCCGGCCCTCAGC 0.483000 14 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086805 9086805 + Silent SNP A A G TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr19:9086805A>G ENST00000397910.4 - 1 5213 c.5010T>C c.(5008-5010)agT>agC p.S1670S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1670 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGCTGTAGAACTTCTTCTTT 0.517000 5 79 0 0 1 0 0 CEP120 153241 broad.mit.edu 37 5 122718571 122718571 + Missense_Mutation SNP C C G TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr5:122718571C>G ENST00000306467.5 - 13 2177 c.1873G>C c.(1873-1875)Gta>Cta p.V625L CEP120_ENST00000328236.5_Missense_Mutation_p.V625L|CEP120_ENST00000306481.6_Missense_Mutation_p.V599L Q8N960 CE120_HUMAN centrosomal protein 120kDa 625 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 TTTTGCTGTACGGCAGATACA 0.393000 18 27 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 3 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4735742 4735742 + Missense_Mutation SNP C C T rs148740017 byFrequency TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr12:4735742C>T ENST00000545990.2 - 5 2850 c.2326G>A c.(2326-2328)Gtc>Atc p.V776I AKAP3_ENST00000228850.1_Missense_Mutation_p.V776I NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 776 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 CATTGAAGGACGGCTTGGAGT 0.507000 29 66 0 0 1 0 0 SIRT3 23410 broad.mit.edu 37 11 233049 233049 + Missense_Mutation SNP G G A rs1734492 TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr11:233049G>A ENST00000382743.4 - 3 742 c.640C>T c.(640-642)Cgg>Tgg p.R214W SIRT3_ENST00000525319.1_Missense_Mutation_p.R133W|SIRT3_ENST00000524564.1_Missense_Mutation_p.R150W|SIRT3_ENST00000532956.1_Missense_Mutation_p.R214W|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000529382.1_Missense_Mutation_p.R72W NM_001017524.2|NM_012239.5 NP_001017524.1|NP_036371.1 Q9NTG7 SIRT3_HUMAN sirtuin 3 214 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding endometrium(1)|lung(5)|urinary_tract(1) 7 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) TGAAGCAGCCGGAGAAAGTAG 0.517000 18 54 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118867003 118867003 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr5:118867003C>T ENST00000504811.1 + 23 2156 c.1972C>T c.(1972-1974)Cgc>Tgc p.R658C HSD17B4_ENST00000513628.1_Missense_Mutation_p.R496C|HSD17B4_ENST00000510025.1_Missense_Mutation_p.R609C|HSD17B4_ENST00000509514.1_Missense_Mutation_p.R371C|HSD17B4_ENST00000515320.1_Missense_Mutation_p.R615C|HSD17B4_ENST00000414835.2_Missense_Mutation_p.R493C|HSD17B4_ENST00000256216.6_Missense_Mutation_p.R633C|HSD17B4_ENST00000522415.1_3'UTR NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 633 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) GGAAATAGGACGCCGCCTAAA 0.398000 18 41 0 0 1 0 0 CCNH 902 broad.mit.edu 37 5 86707138 86707138 + Missense_Mutation SNP A A G TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr5:86707138A>G ENST00000256897.4 - 2 367 c.143T>C c.(142-144)cTt>cCt p.L48P CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR NM_001239.3 NP_001230.1 P51946 CCNH_HUMAN cyclin H 48 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) ATGAGGCTCAAGAAAGACTGG 0.343000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 6 45 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30308085 30308085 + Silent SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr6:30308085G>A ENST00000376656.4 + 7 1152 c.840G>A c.(838-840)acG>acA p.T280T TRIM39_ENST00000396547.1_Silent_p.T280T|TRIM39_ENST00000396551.3_Intron|TRIM39_ENST00000396548.1_Intron|TRIM39_ENST00000540416.1_Intron|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000376659.5_Intron NM_021253.3 NP_067076.2 tripartite motif containing 39 ovary(3) 3 CACTCTCAACGATCTGTCCAC 0.463000 14 44 0 0 1 0 0 OR10G4 390264 broad.mit.edu 37 11 123886347 123886347 + Silent SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr11:123886347C>T ENST00000320891.4 + 1 66 c.66C>T c.(64-66)gaC>gaT p.D22D NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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) CAGGGCTGGACGCCCTCCTCT 0.582000 41 77 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585819 178585819 + Missense_Mutation SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr5:178585819G>A ENST00000251582.7 - 6 1138 c.1037C>T c.(1036-1038)gCc>gTc p.A346V ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 346 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CTGGAGGTAGGCCCAGCGGCA 0.592000 7 59 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122283293 122283293 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr3:122283293C>T ENST00000296161.4 + 1 209 c.20C>T c.(19-21)cCg>cTg p.P7L DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000360356.2_5'UTR|PARP9_ENST00000477522.2_5'UTR NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 7 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) CACCTGCGCCCGCCGTCCCCG 0.736000 5 20 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968185 4968185 + Missense_Mutation SNP G G T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chrY:4968185G>T ENST00000333703.4 + 5 3046 c.2533G>T c.(2533-2535)Gtc>Ttc p.V845F PCDH11Y_ENST00000215473.6_Missense_Mutation_p.V856F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.V856F NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 856 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CACCATAACTGTCGTTGTAGT 0.468000 33 8 1.22674e-20 1.32621e-20 1 1 0 FLRT3 23767 broad.mit.edu 37 20 14306920 14306920 + Silent SNP A A G TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr20:14306920A>G ENST00000378053.3 - 2 1489 c.1233T>C c.(1231-1233)atT>atC p.I411I MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 411 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CAGTAATTGTAATTGTTTTTC 0.458000 50 143 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A rs117795868 by1000genomes TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr10:129906577G>A ENST00000368654.3 - 13 3902 c.3527C>T c.(3526-3528)aCg>aTg p.T1176M MKI67_ENST00000368653.3_Missense_Mutation_p.T816M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1176 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTTTGGGCGTAAGCATGGC 0.463000 4 235 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44933129 44933129 + Silent SNP G G A TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr19:44933129G>A ENST00000291187.4 - 6 2131 c.1809C>T c.(1807-1809)ttC>ttT p.F603F CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.F609F NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 609 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) AGCTGTAGATGAAACCCTTCC 0.557000 14 65 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151111116 151111116 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr1:151111116C>T ENST00000341697.3 - 7 2137 c.446G>A c.(445-447)cGc>cAc p.R149H Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 149 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CCCATAGCTGCGGCACACAGG 0.547000 4 40 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085096 9085096 + Missense_Mutation SNP G G T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr19:9085096G>T ENST00000397910.4 - 1 6922 c.6719C>A c.(6718-6720)cCt>cAt p.P2240H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2240 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCCATCTGAAGGTGTGTCAAT 0.473000 11 19 2.80697e-09 2.87895e-09 1 1 0 TP53 7157 broad.mit.edu 37 17 7579402 7579418 + Frame_Shift_Del DEL AGATGACAGGGGCCAGG AGATGACAGGGGCCAGG - TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr17:7579402_7579418delAGATGACAGGGGCCAGG ENST00000420246.2 - 4 401_417 c.269_285delCCTGGCCCCTGTCATCT c.(268-285)tfs p.SWPLSS90fs TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 90 Interaction with WWOX. S -> F (in sporadic cancers; somatic mutation).|S -> Y (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.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(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) AAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGG 0.631 111 """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) 28 31 --- --- --- --- RP5-1043L13.1 0 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2de10b8-8e9d-4cf0-bc63-b624df4eca9d 6b09169a-4356-4d2b-a82b-0ac0e7bceb74 g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 5 2 --- --- --- ---