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 IGHV1-45 28466 broad.mit.edu 37 14 106963045 106963045 + RNA SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr14:106963045G>A ENST00000390621.2 - 0 294 ATTTCTGTGCGTAGTTGGTGT 0.547000 74 115 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149314 34149314 + Missense_Mutation SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:34149314C>T ENST00000346193.3 - 1 1133 c.1082G>A c.(1081-1083)cGt>cAt p.R361H NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 361 p.R361H(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TAGGCGGAGACGGGACACTCC 0.647000 4 69 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32480635 32480635 + Missense_Mutation SNP T T A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr22:32480635T>A ENST00000266088.4 + 8 1124 c.874T>A c.(874-876)Tgc>Agc p.C292S SLC5A1_ENST00000543737.1_Missense_Mutation_p.C165S NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 292 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 GTGGTACTGGTGCACAGATCA 0.567000 3 39 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42629113 42629113 + Silent SNP T T A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr4:42629113T>A ENST00000381668.5 - 2 294 c.63A>T c.(61-63)acA>acT p.T21T ATP8A1_ENST00000510289.1_Silent_p.T21T|ATP8A1_ENST00000264449.10_Silent_p.T21T NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 21 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) AAACATCATCTGTCTTCTCAT 0.368000 3 33 0 0 1 0 0 CYP2B6 1555 broad.mit.edu 37 19 41516036 41516036 + Silent SNP T T C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr19:41516036T>C ENST00000324071.4 + 6 967 c.960T>C c.(958-960)gtT>gtC p.V320V CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000330446.5_Intron NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 320 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACCCTCATGTTGCAGGTGGGC 0.572000 8 52 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129803980 129803980 + Missense_Mutation SNP T T G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:129803980T>G ENST00000338144.3 - 8 1157 c.740A>C c.(739-741)tAt>tCt p.Y247S ENOX2_ENST00000370935.1_Missense_Mutation_p.Y218S|ENOX2_ENST00000370927.1_Missense_Mutation_p.Y247S|ENOX2_ENST00000394363.1_Missense_Mutation_p.Y218S NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 247 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 ATGATCTGAATAGTGGACCAC 0.428000 37 60 0 0 1 0 0 CORO7 79585 broad.mit.edu 37 16 4412682 4412682 + Missense_Mutation SNP C C A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr16:4412682C>A ENST00000251166.4 - 15 1478 c.1333G>T c.(1333-1335)Ggg>Tgg p.G445W CORO7_ENST00000539968.1_Missense_Mutation_p.G225W|CORO7_ENST00000537233.2_Missense_Mutation_p.G427W|CORO7_ENST00000574025.1_Missense_Mutation_p.G360W|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.G445W|CORO7_ENST00000423908.2_Missense_Mutation_p.G277W NM_024535.4 NP_078811.3 coronin 7 breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2) 23 AGTGAGGGCCCCAGGCTGGAG 0.667000 3 40 0.004672 0.004672 1 1 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 5 47 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33395149 33395149 + Missense_Mutation SNP T T C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr9:33395149T>C ENST00000539936.1 - 3 309 c.71A>G c.(70-72)aAg>aGg p.K24R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR O14520 AQP7_HUMAN aquaporin 7 24 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) TTCCTGGATCTTTGCTATCAC 0.557000 3 35 0 0 1 0 0 ANO3 63982 broad.mit.edu 37 11 26529704 26529704 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:26529704G>C ENST00000256737.3 + 5 1338 c.486G>C c.(484-486)aaG>aaC p.K162N ANO3_ENST00000525139.1_Missense_Mutation_p.K146N|ANO3_ENST00000531646.1_Missense_Mutation_p.K162N|ANO3_ENST00000531568.1_Missense_Mutation_p.K16N|ANO3_ENST00000537978.1_Missense_Mutation_p.K146N NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 162 K -> R (in Ref. 1; CAC32454). chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 ATGGCAAAAAGAGAATTGATT 0.348000 19 22 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66437025 66437025 + Silent SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr16:66437025C>T ENST00000341529.3 + 12 2456 c.2308C>T c.(2308-2310)Ctg>Ttg p.L770L CDH5_ENST00000539168.1_Silent_p.L209L NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 770 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GTTTAAGATGCTGGCTGAGCT 0.632000 3 18 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152279816 152279816 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr1:152279816G>C ENST00000368799.1 - 3 7581 c.7546C>G c.(7546-7548)Caa>Gaa p.Q2516E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2516 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTACGAGTTTGTCTGCTTGCA 0.567000 Ichthyosis 5 468 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010713 78010713 + Missense_Mutation SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:78010713C>T ENST00000435339.2 + 2 752 c.347C>T c.(346-348)aCt>aTt p.T116I LPAR4_ENST00000373301.2_Missense_Mutation_p.T116I NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 116 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 ATCTCTGGAACTGCATTCCTT 0.423000 33 113 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 4 159 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51285806 51285806 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr15:51285806A>G ENST00000261842.5 + 17 2436 c.2330A>G c.(2329-2331)gAa>gGa p.E777G AP4E1_ENST00000560508.1_Missense_Mutation_p.E702G NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 777 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) CTAGGATCAGAAAGTACAATC 0.378000 32 61 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109818700 109818700 + Silent SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr6:109818700A>G ENST00000424296.2 - 38 5359 c.5283T>C c.(5281-5283)tgT>tgC p.C1761C RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 CTTTGTTCTCACAAATATATA 0.338000 27 45 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 3 33 0 0 1 0 0 SLC26A2 1836 broad.mit.edu 37 5 149360408 149360408 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr5:149360408A>G ENST00000286298.4 + 3 1520 c.1252A>G c.(1252-1254)Atg>Gtg p.M418V NM_000112.3 NP_000103.2 P50443 S26A2_HUMAN solute carrier family 26 (anion exchanger), member 2 418 integral to plasma membrane|membrane fraction secondary active sulfate transmembrane transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AAACCAGGAAATGTATGCCAT 0.388000 5 83 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187630130 187630130 + Silent SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr4:187630130A>G ENST00000441802.2 - 2 1061 c.852T>C c.(850-852)ggT>ggC p.G284G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 284 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CACCATTGGCACCCTGATCGC 0.483000 HNSCC(5;0.00058) 9 263 0 0 1 0 0 SSX6 280657 broad.mit.edu 37 X 47972599 47972599 + Missense_Mutation SNP G G T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:47972599G>T ENST00000319275.3 + 5 376 c.10G>T c.(10-12)Ggc>Tgc p.G4C SSX6_ENST00000376932.2_Missense_Mutation_p.G102C large_intestine(6)|lung(4)|skin(2)|stomach(1) 13 GATGACTTTTGGCAGGCTCCA 0.453000 90 161 2.05045e-34 2.16762e-34 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22363510 22363510 + Missense_Mutation SNP A A G TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr19:22363510A>G ENST00000397121.2 - 3 1326 c.1009T>C c.(1009-1011)Tac>Cac p.Y337H NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TCACATTTGTAGGGTTTCTCT 0.413000 14 142 0 0 1 0 0 ARHGEF39 84904 broad.mit.edu 37 9 35664419 35664419 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr9:35664419G>A ENST00000378387.3 - 3 421 c.304C>T c.(304-306)Ctc>Ttc p.L102F ARHGEF39_ENST00000378395.2_Missense_Mutation_p.L66F|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.L102F|ARHGEF39_ENST00000490970.1_5'UTR NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 TGGTTATAGAGCTCCAAGTGG 0.572000 30 59 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221718 5221718 + Silent SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr11:5221718G>A ENST00000321255.1 - 1 212 c.213C>T c.(211-213)ttC>ttT p.F71F NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCATGGACAGGAAGTAAAACA 0.527000 27 46 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6833230 6833230 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr19:6833230G>A ENST00000304076.2 + 16 1638 c.1544G>A c.(1543-1545)gGg>gAg p.G515E VAV1_ENST00000602142.1_Missense_Mutation_p.G515E|VAV1_ENST00000596764.1_Missense_Mutation_p.G483E|VAV1_ENST00000599806.1_Missense_Mutation_p.G460E|VAV1_ENST00000539284.1_Missense_Mutation_p.G418E NM_001258206.1 NP_001245135.1 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 515 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 ACCGCCAACGGGCATGACTTC 0.468000 18 24 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31432959 31432959 + Missense_Mutation SNP G G C TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr18:31432959G>C ENST00000261592.5 - 11 2061 c.1764C>G c.(1762-1764)agC>agG p.S588R NOL4_ENST00000269185.4_Missense_Mutation_p.S372R|NOL4_ENST00000589544.1_Missense_Mutation_p.S486R|NOL4_ENST00000535384.1_Missense_Mutation_p.S303R|NOL4_ENST00000538587.1_Missense_Mutation_p.S514R|NOL4_ENST00000535475.1_Missense_Mutation_p.S369R NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 588 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 AGGATCCTGAGCTAGTCGCCA 0.443000 5 58 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21710341 21710341 + Missense_Mutation SNP C C T TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr18:21710341C>T ENST00000540918.2 + 7 912 c.662C>T c.(661-663)gCc>gTc p.A221V TTC39C_ENST00000317571.3_Missense_Mutation_p.A528V|TTC39C_ENST00000304621.6_Missense_Mutation_p.A467V Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 528 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 CAGCCGTATGCCTGTTATGAA 0.313000 5 139 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414926 14414926 + RNA SNP A A C rs2821611 TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr21:14414926A>C ENST00000507941.1 + 0 95 AAACAGGACAACTCTGATGAA 0.403000 4 91 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1554459 1554459 + Missense_Mutation SNP G G A TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr17:1554459G>A ENST00000572621.1 - 41 7061 c.6796C>T c.(6796-6798)Cgt>Tgt p.R2266C PRPF8_ENST00000304992.6_Missense_Mutation_p.R2266C Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2266 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CCAAGGAAACGGTCCGACAGC 0.572000 3 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577084 7577084 + Missense_Mutation SNP T T A rs121912667 TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr17:7577084T>A ENST00000420246.2 - 8 986 c.854A>T c.(853-855)gAg>gTg p.E285V TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000269305.4_Missense_Mutation_p.E285V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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|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.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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) ATTCTCTTCCTCTGTGCGCCG 0.562000 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) 21 5 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 7 7 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 4 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82835161 82835163 + In_Frame_Del DEL AAC AAC - TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr5:82835161_82835163delAAC ENST00000265077.3 + 8 6904_6906 c.6339_6341delAAC c.(6337-6342)gaa>ga p.ET2113del VCAN_ENST00000343200.5_In_Frame_Del_p.ET1126del|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2113 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTGAAAGTGAAACAACATCAGAG 0.379 20 56 --- --- --- --- PRR25 388199 broad.mit.edu 37 16 863356 863372 + Frame_Shift_Del DEL GGACGCCGGACCGACAC GGACGCCGGACCGACAC - rs113623365 TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chr16:863356_863372delGGACGCCGGACCGACAC ENST00000301698.1 + 3 704_720 c.704_720delGGACGCCGGACCGACAC c.(703-720)afs p.RTPDRH235fs NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 235 large_intestine(1)|lung(1)|skin(1) 3 GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA 0.714 6 3 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-QR-A6GY-01A-11D-A35D-08 TCGA-QR-A6GY-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 86338271-40b0-4a06-82c5-1ed79b637423 a43fd969-ffd2-4085-9a2f-81bb5b805c09 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 7 219 --- --- --- ---