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 VPS13D 55187 broad.mit.edu 37 1 12446347 12446347 + Missense_Mutation SNP A A G rs144706588 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr1:12446347A>G ENST00000358136.3 + 60 11718 c.11588A>G c.(11587-11589)cAg>cGg p.Q3863R VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R|VPS13D_ENST00000496628.1_3'UTR NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3862 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACTATACACAGCTGGCAACC 0.438 27 51 --- --- --- --- RETSAT 54884 broad.mit.edu 37 2 85570403 85570403 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr2:85570403G>A ENST00000295802.4 - 11 1907 c.1795C>T c.(1795-1797)Ctt>Ttt p.L599F RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 599 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CTAGAATCAAGATTCTTAAGG 0.532 4 88 --- --- --- --- SCN5A 6331 broad.mit.edu 37 3 38591846 38591846 + Missense_Mutation SNP G G T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr3:38591846G>T ENST00000413689.1 - 28 6210 c.6017C>A c.(6016-6018)cCt>cAt p.P2006H SCN5A_ENST00000333535.4_Missense_Mutation_p.P2006H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 2006 P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GTCCGGAGAAGGGGGGAAGTC 0.577 5 43 --- --- --- --- HSPA1L 3305 broad.mit.edu 37 6 31778218 31778218 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr6:31778218C>T ENST00000375654.4 - 2 1721 c.1532G>A c.(1531-1533)cGc>cAc p.R511H HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 511 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 CTTGCTCAGGCGGCCCTTGTC 0.483 5 171 --- --- --- --- YAE1D1 57002 broad.mit.edu 37 7 39606042 39606042 + Silent SNP T T C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr7:39606042T>C ENST00000432096.2 + 1 38 c.25T>C c.(25-27)Ttg>Ctg p.L9L YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000223273.2_Silent_p.L9L NM_001282446.1 NP_001269375.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 9 AGCAGCCTCCTTGATCCAGGG 0.607 8 33 --- --- --- --- COL14A1 7373 broad.mit.edu 37 8 121237425 121237425 + Silent SNP A A T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr8:121237425A>T ENST00000297848.3 + 15 2106 c.1836A>T c.(1834-1836)tcA>tcT p.S612S COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000309791.4_Silent_p.S612S NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 612 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AAGGACAGTCAGAGCCTCTGA 0.418 37 38 --- --- --- --- DMRT2 10655 broad.mit.edu 37 9 1057164 1057164 + Missense_Mutation SNP T T C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr9:1057164T>C ENST00000382251.3 + 5 1906 c.1577T>C c.(1576-1578)tTt>tCt p.F526S DMRT2_ENST00000358146.2_Missense_Mutation_p.F526S|DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 2 526 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) AAAGACCTTTTTGTAGCCAAA 0.403 52 57 --- --- --- --- GABBR2 9568 broad.mit.edu 37 9 101133846 101133846 + Missense_Mutation SNP G G A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr9:101133846G>A ENST00000259455.2 - 12 2129 c.1670C>T c.(1669-1671)aCc>aTc p.T557I NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 557 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GAGAATCCAGGTCCTGACCTA 0.488 10 17 --- --- --- --- BMI1 648 broad.mit.edu 37 10 22615874 22615874 + Nonsense_Mutation SNP T T A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr10:22615874T>A ENST00000376663.3 + 3 673 c.168T>A c.(166-168)tgT>tgA p.C56* COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199* NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 GTCCTATTTGTGATGTCCAAG 0.338 73 127 --- --- --- --- TMEM180 79847 broad.mit.edu 37 10 104232673 104232673 + Silent SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr10:104232673C>T ENST00000238936.4 + 7 1128 c.891C>T c.(889-891)gaC>gaT p.D297D TMEM180_ENST00000366277.2_Silent_p.D26D NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 297 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGTTGTCCGACCATATCTCCC 0.532 8 112 --- --- --- --- OR5A1 219982 broad.mit.edu 37 11 59211176 59211176 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr11:59211176C>T ENST00000302030.2 + 1 560 c.535C>T c.(535-537)Cac>Tac p.H179Y NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 CATCATCAACCACTTCTTCTG 0.542 89 156 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 101890183 101890183 + Missense_Mutation SNP A A T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr13:101890183A>T ENST00000251127.6 - 12 1438 c.1357T>A c.(1357-1359)Ttc>Atc p.F453I NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.F453I NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 453 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGTAGTTCGAATTTGTGGAGA 0.348 4 172 --- --- --- --- TGFB1I1 7041 broad.mit.edu 37 16 31485243 31485243 + Silent SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr16:31485243C>T ENST00000394863.3 + 4 400 c.270C>T c.(268-270)ctC>ctT p.L90L TGFB1I1_ENST00000567607.1_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000394858.2_Silent_p.L73L NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 90 Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity). androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GTACCGGGCTCTGTGAGCTAG 0.597 7 87 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577126 7577126 + Missense_Mutation SNP T T A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:7577126T>A ENST00000420246.2 - 8 944 c.812A>T c.(811-813)gAg>gTg p.E271V TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 271 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(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) AACACGCACCTCAAAGCTGTT 0.532 111 """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) 12 3 --- --- --- --- KRT19 3880 broad.mit.edu 37 17 39680513 39680513 + Missense_Mutation SNP T T A TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr17:39680513T>A ENST00000361566.3 - 5 890 c.830A>T c.(829-831)gAa>gTa p.E277V NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) CCGGTTCAATTCTTCAGTCTG 0.572 4 45 --- --- --- --- PLCB4 5332 broad.mit.edu 37 20 9402051 9402051 + Missense_Mutation SNP G G C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr20:9402051G>C ENST00000378501.2 + 23 2241 c.2226G>C c.(2224-2226)atG>atC p.M742I PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.M742I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 742 C2. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GAACTCGCATGGTTATGAATA 0.403 6 91 --- --- --- --- SPECC1L 23384 broad.mit.edu 37 22 24761555 24761555 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr22:24761555C>T ENST00000314328.9 + 13 3224 c.2939C>T c.(2938-2940)tCt>tTt p.S980F SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 980 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TCCCTGTCCTCTTCTCCAACG 0.512 10 85 --- --- --- --- LARGE 9215 broad.mit.edu 37 22 34046652 34046652 + Missense_Mutation SNP C C T TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chr22:34046652C>T ENST00000354992.2 - 4 680 c.109G>A c.(109-111)Gga>Aga p.G37R LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 37 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ACGGGCTTTCCATCTGGGGAG 0.617 5 28 --- --- --- --- FIGF 2277 broad.mit.edu 37 X 15373392 15373392 + Missense_Mutation SNP G G A rs143510014 TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chrX:15373392G>A ENST00000297904.3 - 4 950 c.521C>T c.(520-522)tCa>tTa p.S174L NM_004469.4 NP_004460.1 O43915 VEGFD_HUMAN c-fos induced growth factor (vascular endothelial growth factor D) 174 angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 17 Hepatocellular(33;0.183) TTCAGGTACTGATGTCAAAGG 0.368 5 46 --- --- --- --- ZNF182 7569 broad.mit.edu 37 X 47835730 47835730 + Missense_Mutation SNP T T C TCGA-VP-A876-01A-11D-A34U-08 TCGA-VP-A876-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b d15683ba-3e40-4447-bca8-760f87c6c438 g.chrX:47835730T>C ENST00000396965.1 - 7 2106 c.1756A>G c.(1756-1758)Act>Gct p.T586A ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A|ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TGATGTACAGTGAATGTTGAC 0.428 13 54 --- --- --- ---