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 IFI16 3428 broad.mit.edu 37 1 159021837 159021837 + Silent SNP T T G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:159021837T>G ENST00000295809.7 + 10 2289 c.2034T>G c.(2032-2034)ctT>ctG p.L678L IFI16_ENST00000368132.3_Silent_p.L622L|IFI16_ENST00000448393.2_Silent_p.L566L|IFI16_ENST00000340979.6_Silent_p.L566L|IFI16_ENST00000368131.4_Silent_p.L622L|IFI16_ENST00000430894.2_Silent_p.L626L|IFI16_ENST00000359709.3_Silent_p.L622L Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 678 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TCAATCAGCTTTGCTCACAAA 0.403 35 53 --- --- --- --- IFI16 3428 broad.mit.edu 37 1 159021848 159021848 + Missense_Mutation SNP C C A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:159021848C>A ENST00000295809.7 + 10 2300 c.2045C>A c.(2044-2046)aCt>aAt p.T682N IFI16_ENST00000368132.3_Missense_Mutation_p.T626N|IFI16_ENST00000448393.2_Missense_Mutation_p.T570N|IFI16_ENST00000340979.6_Missense_Mutation_p.T570N|IFI16_ENST00000368131.4_Missense_Mutation_p.T626N|IFI16_ENST00000430894.2_Missense_Mutation_p.T630N|IFI16_ENST00000359709.3_Missense_Mutation_p.T626N Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 682 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) TGCTCACAAACTAAAGGAAGT 0.393 36 54 --- --- --- --- SELP 6403 broad.mit.edu 37 1 169580817 169580817 + Missense_Mutation SNP A A G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:169580817A>G ENST00000263686.6 - 7 1097 c.1060T>C c.(1060-1062)Tgc>Cgc p.C354R SELP_ENST00000367794.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.C292R|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.C292R|SELP_ENST00000367792.2_Intron NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 354 Sushi 3. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CCGGGCTGGCACTCAAATTTA 0.552 4 104 --- --- --- --- LAMC1 3915 broad.mit.edu 37 1 183093828 183093828 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:183093828G>A ENST00000258341.4 + 14 2721 c.2464G>A c.(2464-2466)Gtg>Atg p.V822M NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 822 Laminin EGF-like 7. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AAACGGCCCTGTGAGACTTTG 0.498 36 61 --- --- --- --- CRB1 23418 broad.mit.edu 37 1 197297963 197297963 + Missense_Mutation SNP C C T rs62635651 TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr1:197297963C>T ENST00000367400.3 + 2 617 c.482C>T c.(481-483)gCc>gTc p.A161V CRB1_ENST00000367399.2_Missense_Mutation_p.A161V|CRB1_ENST00000538660.1_Missense_Mutation_p.A161V|CRB1_ENST00000535699.1_Missense_Mutation_p.A92V NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 161 EGF-like 4; calcium-binding (Potential). A -> V (in RP12). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CAAAATGGGGCCGTGTGCCAG 0.507 7 26 --- --- --- --- IQCA1 79781 broad.mit.edu 37 2 237285745 237285745 + Splice_Site SNP C C A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr2:237285745C>A ENST00000409907.3 - 13 1836 c.e13+1 IQCA1_ENST00000431676.2_Splice_Site|IQCA1_ENST00000309507.5_Splice_Site NM_024726.4 NP_079002.3 Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TGTGTACTCACCAATGTAATC 0.418 22 28 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55540777 55540777 + Silent SNP T T A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr8:55540777T>A ENST00000220676.1 + 4 4483 c.4335T>A c.(4333-4335)tcT>tcA p.S1445S NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1445 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CACGGACTTCTGAAGAACCAG 0.343 22 51 --- --- --- --- GPR158 57512 broad.mit.edu 37 10 25887029 25887029 + Missense_Mutation SNP G G A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr10:25887029G>A ENST00000376351.3 + 11 2833 c.2474G>A c.(2473-2475)aGa>aAa p.R825K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 825 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GACCACGTGAGAGACCAAACG 0.493 16 61 --- --- --- --- HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 26 54 --- --- --- --- TRIM51 84767 broad.mit.edu 37 11 55658642 55658642 + Missense_Mutation SNP G G C TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr11:55658642G>C ENST00000449290.2 + 7 985 c.893G>C c.(892-894)aGt>aCt p.S298T TRIM51_ENST00000244891.3_Missense_Mutation_p.S155T NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 298 B30.2/SPRY. intracellular zinc ion binding AGAGCCAATAGTCATATCTTC 0.333 28 45 --- --- --- --- CACNA1C 775 broad.mit.edu 37 12 2566835 2566835 + Silent SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr12:2566835C>T ENST00000399655.1 + 5 985 c.720C>T c.(718-720)cgC>cgT p.R240R CACNA1C_ENST00000399601.1_Silent_p.R240R|CACNA1C_ENST00000347598.4_Silent_p.R240R|CACNA1C_ENST00000399641.1_Silent_p.R240R|CACNA1C_ENST00000399595.1_Silent_p.R240R|CACNA1C_ENST00000399603.1_Silent_p.R240R|CACNA1C_ENST00000480911.1_Silent_p.R240R|CACNA1C_ENST00000402845.3_Silent_p.R240R|CACNA1C_ENST00000335762.5_Silent_p.R240R|CACNA1C_ENST00000399629.1_Silent_p.R240R|CACNA1C_ENST00000399606.1_Silent_p.R240R|CACNA1C_ENST00000399649.1_Silent_p.R240R|CACNA1C_ENST00000327702.7_Silent_p.R240R|CACNA1C_ENST00000399638.1_Silent_p.R240R|CACNA1C_ENST00000399591.1_Silent_p.R240R|CACNA1C_ENST00000399597.1_Silent_p.R240R|CACNA1C_ENST00000399621.1_Silent_p.R240R|CACNA1C_ENST00000399637.1_Silent_p.R240R|CACNA1C_ENST00000406454.3_Silent_p.R240R|CACNA1C_ENST00000399644.1_Silent_p.R240R|CACNA1C_ENST00000344100.3_Silent_p.R240R|CACNA1C_ENST00000399634.1_Silent_p.R240R|CACNA1C_ENST00000399617.1_Silent_p.R240R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 240 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GGGCCTTCCGCGTGCTGCGCC 0.552 20 217 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11532900 11532900 + Splice_Site SNP C C T rs141702885 by1000genomes TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:11532900C>T ENST00000262442.4 + 7 1585 c.1517C>T c.(1516-1518)aCg>aTg p.T506M DNAH9_ENST00000454412.2_Splice_Site_p.T506M NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCCAAAGCACGGTAGGGTTG 0.507 4 43 --- --- --- --- ALDOC 230 broad.mit.edu 37 17 26902441 26902441 + Missense_Mutation SNP A A G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:26902441A>G ENST00000226253.4 - 2 585 c.110T>C c.(109-111)gTa>gCa p.V37A ALDOC_ENST00000395319.3_Missense_Mutation_p.V37A|ALDOC_ENST00000395321.2_Missense_Mutation_p.V37A NM_005165.2 NP_005156.1 P09972 ALDOC_HUMAN aldolase C, fructose-bisphosphate 37 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) CCACTTACCTACAGACTCATC 0.567 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 41 --- --- --- --- CCDC40 55036 broad.mit.edu 37 17 78061450 78061450 + Missense_Mutation SNP C C G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr17:78061450C>G ENST00000397545.4 + 15 2521 c.2494C>G c.(2494-2496)Cac>Gac p.H832D CCDC40_ENST00000374877.3_Missense_Mutation_p.H832D NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 832 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GATCGAGCACCACATGAAGGA 0.542 6 19 --- --- --- --- CCBE1 147372 broad.mit.edu 37 18 57133976 57133976 + Missense_Mutation SNP T T C TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr18:57133976T>C ENST00000439986.4 - 5 585 c.548A>G c.(547-549)gAc>gGc p.D183G CCBE1_ENST00000398179.2_5'UTR NM_133459.3 NP_597716.1 Q6UXH8 CCBE1_HUMAN collagen and calcium binding EGF domains 1 183 lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis collagen calcium ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3) 24 Colorectal(73;0.175) CTTACCAGTGTCATTGGGATA 0.398 30 114 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45377223 45377223 + Missense_Mutation SNP C C T TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr19:45377223C>T ENST00000252483.5 + 4 826 c.826C>T c.(826-828)Cgt>Tgt p.R276C PVRL2_ENST00000252485.4_Missense_Mutation_p.R276C NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 276 Ig-like C2-type 2. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) GTACCTCGGCCGTACTGATGC 0.602 30 51 --- --- --- --- SON 6651 broad.mit.edu 37 21 34924043 34924043 + Missense_Mutation SNP T T G TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chr21:34924043T>G ENST00000356577.4 + 3 2981 c.2506T>G c.(2506-2508)Tta>Gta p.L836V SON_ENST00000300278.4_Missense_Mutation_p.L836V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.L836V|SON_ENST00000290239.6_Missense_Mutation_p.L836V NM_138927.1 NP_620305 P18583 SON_HUMAN SON DNA binding protein 836 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CTCCCAGATGTTAGCAACCAG 0.507 89 169 --- --- --- --- IL1RAPL2 26280 broad.mit.edu 37 X 104984612 104984612 + Missense_Mutation SNP C C A TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chrX:104984612C>A ENST00000372582.1 + 8 1732 c.976C>A c.(976-978)Ctg>Atg p.L326M IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L326M NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 326 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGAAGCTGACCTGGCGAATTA 0.398 48 19 --- --- --- --- BCOR 54880 broad.mit.edu 37 X 39932270 39932279 + Frame_Shift_Del DEL GATGTAACTT GATGTAACTT - TCGA-VN-A88N-01A-11D-A364-08 TCGA-VN-A88N-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx d074f30a-3b97-4e7d-a291-576c573768e9 a8f14eb8-6c49-4824-95e3-5d14cfe55729 g.chrX:39932270_39932279delGATGTAACTT ENST00000342274.4 - 4 2682_2691 c.2320_2329delAAGTTACATC c.(2320-2331)aagttacatccafs p.KLHP774fs BCOR_ENST00000378444.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KLHP774fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KLHP774fs NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 774 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGGACATCTGGATGTAACTTGGTGCTGCTA 0.524 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 71 58 --- --- --- ---