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 SVIL 6840 broad.mit.edu 37 10 29759247 29759247 + Missense_Mutation SNP G G A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr10:29759247G>A uc001iut.1 - 32 6554 c.5801C>T c.(5800-5802)ACG>ATG p.T1934M LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.T848M|SVIL_uc001iuu.1_Missense_Mutation_p.T1508M NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1934 Gelsolin-like 4. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GACCTCCTTCGTGTGGGCCTG 0.597000 DOCK1 1793 broad.mit.edu 37 10 128851029 128851029 + Silent SNP G G T TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr10:128851029G>T uc001ljt.2 + 22 2287 c.2223G>T c.(2221-2223)GCG>GCT p.A741A DOCK1_uc010qun.1_Silent_p.A762A NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 741 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCATGAAAGCGCTAGAATCCA 0.502000 CHID1 66005 broad.mit.edu 37 11 902239 902239 + Missense_Mutation SNP C C A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr11:902239C>A uc001lsl.2 - 4 514 c.353G>T c.(352-354)CGT>CTT p.R118L CHID1_uc010qwu.1_Missense_Mutation_p.R148L|CHID1_uc010qwv.1_Missense_Mutation_p.R179L|CHID1_uc001lsn.2_Missense_Mutation_p.R143L|CHID1_uc001lsm.2_Missense_Mutation_p.R118L|CHID1_uc001lso.2_Missense_Mutation_p.R118L|CHID1_uc001lsp.2_Missense_Mutation_p.R118L|CHID1_uc010qww.1_Missense_Mutation_p.R118L NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 isoform a 118 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity 0 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) AAACATCTCACGGCCACGTCT 0.557000 MTUS2 23281 broad.mit.edu 37 13 29600602 29600602 + Missense_Mutation SNP C C G TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr13:29600602C>G uc001usl.3 + 1 1855 c.1797C>G c.(1795-1797)GAC>GAG p.D599E NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 589 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AAGTGCCTGACAAGAACACTT 0.532000 TTLL5 23093 broad.mit.edu 37 14 76241900 76241900 + Missense_Mutation SNP G G A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr14:76241900G>A uc001xrx.2 + 22 2415 c.2210G>A c.(2209-2211)CGA>CAA p.R737Q TTLL5_uc010ask.1_Missense_Mutation_p.R751Q|TTLL5_uc001xrz.2_Missense_Mutation_p.R312Q|TTLL5_uc001xry.1_RNA NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 737 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) TTACCCAGTCGACGATTGGCA 0.448000 TLN2 83660 broad.mit.edu 37 15 63084979 63084979 + Missense_Mutation SNP C C T rs140861754 byFrequency TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr15:63084979C>T uc002alb.3 + 43 5876 c.5876C>T c.(5875-5877)ACG>ATG p.T1959M TLN2_uc002alc.3_Missense_Mutation_p.T352M NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1959 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CGTGCCGTCACGGAAAAGGTA 0.567000 CDH1 999 broad.mit.edu 37 16 68844172 68844172 + Missense_Mutation SNP G G T TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr16:68844172G>T uc002ewg.1 + 6 884 c.760G>T c.(760-762)GAT>TAT p.D254Y CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.D254Y NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 254 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.D254fs*9(1)|p.D254H(1)|p.D254Y(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CACGGTAACCGATCAGAATGA 0.468000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer TP53 7157 broad.mit.edu 37 17 7578542 7578542 + Missense_Mutation SNP G G A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr17:7578542G>A uc002gim.2 - 5 582 c.388C>T c.(388-390)CTC>TTC p.L130F TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.2_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.L91F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 130 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L130V(11)|p.L130F(7)|p.L130R(7)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.L130L(4)|p.L130H(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 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) ATCTTGTTGAGGGCAGGGGAG 0.552000 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 Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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) SPAG5 10615 broad.mit.edu 37 17 26905534 26905534 + Missense_Mutation SNP C C T TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr17:26905534C>T uc002hbq.2 - 21 3303 c.3211G>A c.(3211-3213)GAG>AAG p.E1071K ALDOC_uc002hbp.2_5'Flank|ALDOC_uc010cro.2_5'Flank NM_006461 NP_006452 Q96R06 SPAG5_HUMAN sperm associated antigen 5 1071 Potential. cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytoplasm|spindle pole protein binding central_nervous_system(1) 1 Lung NSC(42;0.00431) TGGGTCACCTCCTCTCTAAGG 0.532000 PSD4 23550 broad.mit.edu 37 2 113955401 113955401 + Silent SNP G G A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr2:113955401G>A uc002tjc.2 + 14 2718 c.2535G>A c.(2533-2535)TCG>TCA p.S845S PSD4_uc002tjd.2_Silent_p.S465S|PSD4_uc002tje.2_Silent_p.S815S|PSD4_uc002tjf.2_Silent_p.S466S|PSD4_uc002tjg.2_Silent_p.S11S|PSD4_uc010yxs.1_Silent_p.S75S|PSD4_uc002tjh.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 845 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 TGCACCACTCGCTGGCCACCC 0.647000 GPR155 151556 broad.mit.edu 37 2 175304637 175304637 + Silent SNP G G C TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr2:175304637G>C uc002uit.2 - 16 2692 c.2301C>G c.(2299-2301)GTC>GTG p.V767V GPR155_uc002uiu.2_Silent_p.V767V|GPR155_uc002uiv.2_Silent_p.V767V|GPR155_uc010fqs.2_Silent_p.V739V NM_001033045 NP_001028217 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 isoform 9 767 DEP. intracellular signal transduction|transmembrane transport integral to membrane ovary(1) 1 TTCTTTCTTTGACAATGTTTC 0.348000 CTSA 5476 broad.mit.edu 37 20 44521890 44521890 + Missense_Mutation SNP A A G TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr20:44521890A>G uc002xqj.3 + 7 1106 c.632A>G c.(631-633)TAT>TGT p.Y211C NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Missense_Mutation_p.Y229C|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Missense_Mutation_p.Y212C|CTSA_uc002xqk.3_Missense_Mutation_p.Y211C NM_001127695 NP_001121167 P10619 PPGB_HUMAN cathepsin A isoform b precursor 211 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) CTCTCCTCCTATGAGCAGAAT 0.567000 NRIP1 8204 broad.mit.edu 37 21 16339654 16339654 + Missense_Mutation SNP G G A rs150993445 TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr21:16339654G>A uc002yjx.2 - 4 1458 c.860C>T c.(859-861)ACG>ATG p.T287M NM_003489 NP_003480 P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 287 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity 0 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TGCATTTTGCGTTTTTAAAGC 0.458000 C22orf33 339669 broad.mit.edu 37 22 37395899 37395899 + Missense_Mutation SNP G G A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr22:37395899G>A uc003aqf.2 - 4 762 c.616C>T c.(616-618)CGG>TGG p.R206W C22orf33_uc003aqe.2_Missense_Mutation_p.R121W NM_001163857 NP_001157329 O43247 EAN57_HUMAN hypothetical protein LOC339669 isoform 1 206 0 AAGTTTGACCGCATGTTGTAG 0.567000 PCDHGA8 9708 broad.mit.edu 37 5 140773225 140773225 + Missense_Mutation SNP G G A rs141295392 by1000genomes TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr5:140773225G>A uc003lkd.1 + 1 1743 c.845G>A c.(844-846)CGG>CAG p.R282Q PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.R282Q NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 282 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TACAAATTCCGGAAAATTAAT 0.408000 FAT2 2196 broad.mit.edu 37 5 150924600 150924600 + Missense_Mutation SNP G G A TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr5:150924600G>A uc003lue.3 - 9 6101 c.6088C>T c.(6088-6090)CGG>TGG p.R2030W GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2030 Extracellular (Potential).|Cadherin 17. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCTGCTCCCGGTCAAACGCC 0.507000 AK3 50808 broad.mit.edu 37 9 4713048 4713048 + Missense_Mutation SNP A A C TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr9:4713048A>C uc003ziq.1 - 5 752 c.612T>G c.(610-612)ATT>ATG p.I204M AK3_uc003zip.1_RNA|AK3_uc011lma.1_Missense_Mutation_p.I164M|AK3_uc003zir.1_Missense_Mutation_p.I134M NM_016282 NP_057366 Q9UIJ7 KAD3_HUMAN adenylate kinase 3 204 blood coagulation mitochondrial matrix ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity ovary(2) 2 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0302) CATAGGGCCAAATCTTGTTGG 0.378000 MAGEB1 4112 broad.mit.edu 37 X 30269600 30269600 + Silent SNP G G T TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chrX:30269600G>T uc004dcc.2 + 4 1310 c.990G>T c.(988-990)ACG>ACT p.T330T MAGEB1_uc004dcd.2_Silent_p.T330T|MAGEB1_uc004dce.2_Silent_p.T330T NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 330 0 CTACTGCCACGACTTTTAGAG 0.527000 SIRT6 51548 broad.mit.edu 37 19 4174643 4174643 + Frame_Shift_Del DEL T T - TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr19:4174643delT uc002lzo.2 - 8 1099 c.1039delA c.(1039-1041)AGGfs p.R347fs SIRT6_uc002lzn.2_3'UTR|SIRT6_uc002lzp.2_3'UTR|SIRT6_uc010xid.1_Frame_Shift_Del_p.R275fs|SIRT6_uc002lzq.2_Frame_Shift_Del_p.R320fs|SIRT6_uc002lzr.2_Frame_Shift_Del_p.R248fs NM_016539 NP_057623 Q8N6T7 SIRT6_HUMAN sirtuin 6 347 chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTTCACCCTTTTGGGGGGT 0.647 NRXN1 9378 broad.mit.edu 37 2 50765683 50765683 + Frame_Shift_Del DEL C C - TCGA-BR-6803-01A-11D-1882-08 TCGA-BR-6803-10A-01D-1882-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2275270e-2d72-4999-9b99-b5c2269ac152 a320b394-175a-41dd-bf3c-e86f7ecdc735 g.chr2:50765682_50765682GC>G uc021vhh.1 - 8 2773 c.1852_1852GC>C c.(1852-1854)ctgfs p.L618fs NRXN1_uc002rxb.4_Frame_Shift_Del_p.L290fs|NRXN1_uc021vhg.1_Frame_Shift_Del_p.L658fs|NRXN1_uc021vhi.1_Frame_Shift_Del_p.L654fs|NRXN1_uc021vhj.1_Frame_Shift_Del_p.L614fs|NRXN1_uc002rxc.1_Non-coding_Transcript NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 618 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTTTCTGGCAGCCCCCCCAGG 0.522