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 SATB1 6304 broad.mit.edu 37 3 18435971 18435971 + Missense_Mutation SNP C C A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:18435971C>A ENST00000338745.6 - 7 2923 c.1189G>T c.(1189-1191)Gct>Tct p.A397S TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.A397S|SATB1_ENST00000454909.2_Missense_Mutation_p.A397S NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 397 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTGTTAAAAGCCACACGTGCA 0.433000 46 92 1.61004e-24 1.68794e-24 1 1 0 LRRC37A11P 0 broad.mit.edu 37 17 37186555 37186555 + RNA SNP C C T rs9893920 by1000genomes TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr17:37186555C>T ENST00000425901.2 + 0 397 NR_033753.2 GAACCTTCTCCAGTCCAGCAA 0.587000 3 27 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85607825 85607825 + Missense_Mutation SNP G G C TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr9:85607825G>C ENST00000376447.3 - 15 2296 c.2036C>G c.(2035-2037)gCc>gGc p.A679G NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 679 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TCTTACCATGGCCAGTTTCTC 0.473000 76 156 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15719776 15719776 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:15719776C>T ENST00000399451.2 - 24 2924 c.2557G>A c.(2557-2559)Gac>Aac p.D853N ANKRD28_ENST00000383777.1_Missense_Mutation_p.D886N|ANKRD28_ENST00000497037.1_5'UTR NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 853 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 CCTGTAGAGTCCACAGAATTG 0.398000 16 16 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19026633 19026633 + Splice_Site SNP G G A rs146027196 TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr22:19026633G>A ENST00000263196.7 - 10 1645 c.1396_splice c.e10-1 p.D466_splice DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Splice_Site_p.D425_splice NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 466 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding p.D466D(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) AAGCATCATCGTCTGCAGGAA 0.622000 12 31 0 0 1 0 0 CANT1 124583 broad.mit.edu 37 17 76991172 76991172 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr17:76991172C>T ENST00000302345.2 - 3 1257 c.763G>A c.(763-765)Ggc>Agc p.G255S CANT1_ENST00000591773.1_Missense_Mutation_p.G255S|CANT1_ENST00000392446.5_Missense_Mutation_p.G255S NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 255 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) TCCACGCTGCCCTTGTAGCCC 0.652000 T ETV4 prostate 3 3 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33581234 33581234 + Missense_Mutation SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr20:33581234G>A ENST00000262873.7 + 24 2623 c.2531G>A c.(2530-2532)cGc>cAc p.R844H NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 802 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) AGCCGTGGCCGCCTCATGCGC 0.672000 14 18 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108195254 108195254 + Missense_Mutation SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:108195254G>A ENST00000273353.3 - 13 1339 c.1283C>T c.(1282-1284)aCt>aTt p.T428I NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 428 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTGTTCTATAGTTTGACCTCT 0.338000 26 23 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96215430 96215430 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr5:96215430C>T ENST00000437043.3 + 2 752 c.41C>T c.(40-42)cCa>cTa p.P14L ERAP2_ENST00000379904.4_Missense_Mutation_p.P14L|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.P14L NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 14 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CACAGAAAACCAATGTTTAAC 0.373000 6 82 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159642 18159642 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr11:18159642C>T ENST00000396275.2 + 3 1254 c.893C>T c.(892-894)aCg>aTg p.T298M NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 298 integral to membrane|plasma membrane G-protein coupled receptor activity p.T298M(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CTGCAGGACACGCCTGAGGTG 0.562000 28 11 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27439832 27439832 + Missense_Mutation SNP G G C TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:27439832G>C ENST00000295736.5 - 17 2483 c.2413C>G c.(2413-2415)Ctt>Gtt p.L805V SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L814V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L797V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L355V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L690V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L681V NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 805 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 ACACCACGAAGTTTTTTACAT 0.363000 43 43 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104170609 104170609 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr9:104170609C>T ENST00000374861.3 + 3 801 c.517C>T c.(517-519)Cgc>Tgc p.R173C ZNF189_ENST00000259395.4_Missense_Mutation_p.R145C|ZNF189_ENST00000339664.2_Missense_Mutation_p.R187C NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 187 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AAGTTTTAGTCGCAGTTCATT 0.413000 37 107 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr17:7577538C>T ENST00000420246.2 - 7 875 c.743G>A c.(742-744)cGg>cAg p.R248Q TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 248 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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) GATGGGCCTCCGGTTCATGCC 0.572000 R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) 24 36 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76940431 76940431 + Splice_Site SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chrX:76940431C>T ENST00000373344.5 - 8 876 c.662_splice c.e8+1 p.R221_splice ATRX_ENST00000395603.3_Splice_Site_p.R183_splice|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 221 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TATTACCTACCTACATTGTTC 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 36 62 0 0 1 0 0 CIDECP 0 broad.mit.edu 37 3 10059658 10059658 + RNA SNP G G T rs9862221 by1000genomes TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:10059658G>T ENST00000432401.1 - 0 505 GGGGATGCCCGTCCTCTGTGG 0.597000 7 80 5.18039e-06 5.34485e-06 1 1 0 VASH1 22846 broad.mit.edu 37 14 77239567 77239567 + Silent SNP A A G rs2075772 by1000genomes TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr14:77239567A>G ENST00000554237.1 + 4 1036 c.543A>G c.(541-543)tcA>tcG p.S181S VASH1_ENST00000167106.4_Intron|VASH1_ENST00000556038.1_Intron Q7L8A9 VASH1_HUMAN vasohibin 1 0 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space p.S181S(1) breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) ATCCTTCCTCACCTGAAGGGG 0.582000 5 38 0 0 1 0 0 MPP7 143098 broad.mit.edu 37 10 28345529 28345529 + Silent SNP T T C TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr10:28345529T>C ENST00000337532.5 - 17 1707 c.1431A>G c.(1429-1431)ctA>ctG p.L477L MPP7_ENST00000445954.2_3'UTR|MPP7_ENST00000375719.3_Silent_p.L477L|MPP7_ENST00000375732.1_Silent_p.L477L|MPP7_ENST00000540098.1_Silent_p.L477L NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 477 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GCTTAAATTCTAGTGTCCTTA 0.333000 49 49 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166211024 166211024 + Missense_Mutation SNP G G C TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr2:166211024G>C ENST00000375437.2 + 17 3532 c.3242G>C c.(3241-3243)aGt>aCt p.S1081T SCN2A_ENST00000375427.2_Missense_Mutation_p.S1081T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1081T|SCN2A_ENST00000283256.6_Missense_Mutation_p.S1081T NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1081 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATAGGCAGCAGTGTAGAAAAA 0.388000 29 49 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 44 0 0 1 0 0 OR2T1 26696 broad.mit.edu 37 1 248570030 248570030 + Silent SNP C C T rs148427102 TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr1:248570030C>T ENST00000366474.1 + 1 735 c.735C>T c.(733-735)taC>taT p.Y245Y NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CAGCCCTCTACGAGACAGTGA 0.493000 33 45 0 0 1 0 0 PLS3 5358 broad.mit.edu 37 X 114882253 114882253 + Missense_Mutation SNP T T G TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chrX:114882253T>G ENST00000420625.2 + 15 1810 c.1676T>G c.(1675-1677)aTt>aGt p.I559S PLS3_ENST00000355899.3_Missense_Mutation_p.I559S|PLS3_ENST00000289290.3_Missense_Mutation_p.I523S|PLS3_ENST00000543070.1_Missense_Mutation_p.I153S|PLS3_ENST00000539310.1_Missense_Mutation_p.I514S|PLS3_ENST00000537301.1_Missense_Mutation_p.I546S NM_001136025.3|NM_001172335.1 NP_001129497.1|NP_001165806.1 P13797 PLST_HUMAN plastin 3 559 Actin-binding 2.|CH 4. cytoplasm actin binding|calcium ion binding NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 GTGGATTTAATTGATGCCATC 0.403000 61 94 0 0 1 0 0 OR52I2 143502 broad.mit.edu 37 11 4608789 4608789 + Missense_Mutation SNP C C G TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr11:4608789C>G ENST00000312614.4 + 1 769 c.747C>G c.(745-747)atC>atG p.I249M NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CCTCCTATATCTTAATTCTCA 0.488000 64 44 0 0 1 0 0 PTGR2 145482 broad.mit.edu 37 14 74347933 74347933 + Missense_Mutation SNP A A G TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr14:74347933A>G ENST00000555661.1 + 8 1022 c.877A>G c.(877-879)Aaa>Gaa p.K293E RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.K159E|PTGR2_ENST00000554885.1_Intron|PTGR2_ENST00000555228.1_Missense_Mutation_p.K293E|PTGR2_ENST00000267568.4_Missense_Mutation_p.K293E Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 293 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 ATTAAATTATAAAGACAAATT 0.358000 48 55 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21226157 21226157 + Missense_Mutation SNP C C T rs149273387 TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr2:21226157C>T ENST00000233242.1 - 29 12264 c.12137G>A c.(12136-12138)cGg>cAg p.R4046Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4046 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) ATCAGATTCCCGGACCCTCAA 0.408000 110 214 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325319 158325319 + Silent SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr1:158325319G>A ENST00000444681.2 + 2 581 c.288G>A c.(286-288)gcG>gcA p.A96A CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000434258.1_Silent_p.A193A|CD1E_ENST00000368167.3_Silent_p.A195A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.A195A|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368160.3_Silent_p.A195A|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Silent_p.A195A|CD1E_ENST00000368165.3_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 195 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GATTTCTAGCGGGGCTCATGG 0.478000 3 31 0 0 1 0 0 PBDC1 51260 broad.mit.edu 37 X 75396760 75396760 + Missense_Mutation SNP C C G TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chrX:75396760C>G ENST00000373358.3 + 5 545 c.342C>G c.(340-342)gaC>gaG p.D114E PBDC1_ENST00000373357.3_Intron NM_016500.3 NP_057584.2 polysaccharide biosynthesis domain containing 1 TTGTTGAAGACTTCAACTATG 0.423000 27 80 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152612569 152612569 + Silent SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chrX:152612569G>A ENST00000421401.3 + 4 603 c.426G>A c.(424-426)gcG>gcA p.A142A ZNF275_ENST00000370251.2_Silent_p.A142A|ZNF275_ENST00000370249.2_Silent_p.A89A|ZNF275_ENST00000440091.1_Silent_p.A172A NM_001080485.3 NP_001073954.3 A6NFS0 A6NFS0_HUMAN zinc finger protein 275 142 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGGGGTGGCGGAGTTTAATG 0.607000 16 18 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510829 56510829 + Silent SNP G G A rs149257582 TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr11:56510829G>A ENST00000302957.3 - 1 458 c.459C>T c.(457-459)acC>acT p.T153T NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TACAGAGGGCGGTGGACATGG 0.478000 13 175 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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) CCTTCCACTCGGATAAGATGC 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 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) 24 22 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1706072 1706072 + Silent SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr16:1706072C>T ENST00000397412.3 + 10 1413 c.1314C>T c.(1312-1314)gaC>gaT p.D438D LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000436138.3_Silent_p.D435D|CRAMP1L_ENST00000293925.5_Silent_p.D438D|CRAMP1L_ENST00000262317.4_Intron Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 438 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GTGCCAAGGACGCCCACGTGC 0.706000 10 16 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86021973 86021973 + Missense_Mutation SNP T T G TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr8:86021973T>G ENST00000414626.2 + 1 1077 c.188T>G c.(187-189)cTa>cGa p.L63R LRRCC1_ENST00000360375.3_Missense_Mutation_p.L83R Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 83 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ATTGAAGGACTAAACACACTG 0.323000 9 11 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124348622 124348622 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr10:124348622C>T ENST00000338354.3 + 17 2052 c.1946C>T c.(1945-1947)aCg>aTg p.T649M DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.T639M|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.T639M|DMBT1_ENST00000368909.3_Missense_Mutation_p.T649M Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 649 SRCR 5. T -> M. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GGCTGGGCCACGTCAGCCCCA 0.612000 12 194 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262407 45262407 + Silent SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr5:45262407C>T ENST00000303230.4 - 8 2346 c.2289G>A c.(2287-2289)ccG>ccA p.P763P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 763 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 CTTCATTTTTCGGCGTGGAGC 0.652000 29 31 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570840 47570840 + Silent SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr19:47570840G>A ENST00000253048.5 - 15 2722 c.2685C>T c.(2683-2685)gcC>gcT p.A895A ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 895 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) AGGTGGGCAGGGCGCGAGCCA 0.701000 13 19 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111885310 111885310 + Missense_Mutation SNP G G A rs72650673 byFrequency TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr12:111885310G>A ENST00000341259.2 + 6 1555 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K SH2B3_ENST00000538307.1_Missense_Mutation_p.E198K NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 400 SH2. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 GCGGCGTGGGGAATACGTGCT 0.632000 5 93 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 41978828 41978828 + Missense_Mutation SNP C C T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr1:41978828C>T ENST00000372584.1 - 7 7078 c.6064G>A c.(6064-6066)Ggc>Agc p.G2022S HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2022S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2022S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2022S|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2022 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGGAGAGCGCCCATGCCCCTT 0.632000 31 38 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467824 74467824 + Missense_Mutation SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr15:74467824G>A ENST00000249842.3 + 2 982 c.625G>A c.(625-627)Gcc>Acc p.A209T RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.A209T NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 209 LRRCT. cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GGACAACATCGCCTGCACCTC 0.652000 12 48 0 0 1 0 0 LIMK1 3984 broad.mit.edu 37 7 73511062 73511062 + Missense_Mutation SNP C C G TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr7:73511062C>G ENST00000418310.1 + 3 455 c.353C>G c.(352-354)tCt>tGt p.S118C LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S54C|LIMK1_ENST00000336180.2_Missense_Mutation_p.S88C P53667 LIMK1_HUMAN LIM domain kinase 1 88 LIM zinc-binding 2. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 Lung NSC(55;0.137) CATGGGTGCTCTGAGCAAATC 0.597000 18 34 0 0 1 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713009 138713009 + Silent SNP G G A TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr9:138713009G>A ENST00000389532.4 - 11 3562 c.3498C>T c.(3496-3498)ttC>ttT p.F1166F CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F1177F|CAMSAP1_ENST00000312405.6_Silent_p.F888F NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1166 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGTAACTGTCGAAGAGACACT 0.567000 105 108 0 0 1 0 0 CIDECP 0 broad.mit.edu 37 3 10059664 10059664 + RNA SNP T T C rs73017232 by1000genomes TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:10059664T>C ENST00000432401.1 - 0 505 GCCCGTCCTCTGTGGCATCGA 0.607000 7 78 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021019 5021019 + Silent SNP T T C TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr11:5021019T>C ENST00000321543.1 + 1 807 c.807T>C c.(805-807)caT>caC p.H269H NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGGAAGCATCTGTCTCCCA 0.463000 5 34 0 0 1 0 0 RP4-663N10.1 0 broad.mit.edu 37 1 115828508 115828508 + RNA DEL A A - TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr1:115828508delA ENST00000425449.1 + 0 207 GATTTTACTCAAAAAAAATAA 0.408 2 4 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810380 36810381 + RNA INS - - T TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr3:36810380_36810381insT ENST00000424886.1 - 0 405_406 TGAGTGAGGCCttttttttttt 0.540 2 4 --- --- --- --- AKAP5 9495 broad.mit.edu 37 14 64936370 64936374 + Frame_Shift_Del DEL AATAA AATAA - TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr14:64936370_64936374delAATAA ENST00000320636.5 + 1 2546_2550 c.1258_1262delAATAA c.(1258-1263)afs p.NK420fs ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Frame_Shift_Del_p.NK420fs P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 420 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) CTCTGATGATAATAAAATAAACAAT 0.341 21 86 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 32989896 32989897 + RNA DEL TA TA - TCGA-HW-8319-01A-11D-2395-08 TCGA-HW-8319-10A-01D-2396-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb65935e-13c0-445a-aa77-e8dde888957e cc240084-66ac-4c53-a3ee-12444b168db2 g.chr16:32989896_32989897delTA ENST00000567619.1 - 0 499 TCCACTCCTGTATTCTCTCCAC 0.510 3 5 --- --- --- ---