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 TBC1D15 64786 broad.mit.edu 37 12 72315226 72315226 + Nonsense_Mutation SNP A A T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr12:72315226A>T ENST00000550746.1 + 17 1910 c.1846A>T c.(1846-1848)Aaa>Taa p.K616* TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.K599*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.K370*|TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.K607* NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 616 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACAGATGGTAAAATGCAAGGT 0.313000 25 124 0 0 0.717897 0 0 GRHL3 57822 broad.mit.edu 37 1 24663012 24663012 + Missense_Mutation SNP C C A TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr1:24663012C>A ENST00000361548.4 + 4 537 c.307C>A c.(307-309)Ctt>Att p.L103I GRHL3_ENST00000356046.2_Missense_Mutation_p.L57I|GRHL3_ENST00000350501.5_Missense_Mutation_p.L103I|GRHL3_ENST00000342072.4_Missense_Mutation_p.L10I|GRHL3_ENST00000236255.4_Missense_Mutation_p.L108I|GRHL3_ENST00000530984.1_3'UTR NM_198173.2 NP_937816.1 Q8TE85 GRHL3_HUMAN grainyhead-like 3 (Drosophila) 103 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) CCTCACTCCCCTTGAAAGCCC 0.507000 8 130 0.00307968 0.00349964 0.278610 1 0 HKR1 284459 broad.mit.edu 37 19 37854228 37854228 + Missense_Mutation SNP A A T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr19:37854228A>T ENST00000591471.1 + 9 2353 c.712A>T c.(712-714)Acc>Tcc p.T238S HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.T450S|HKR1_ENST00000589392.1_Missense_Mutation_p.T493S|HKR1_ENST00000324411.4_Missense_Mutation_p.T511S|HKR1_ENST00000392153.3_Missense_Mutation_p.T492S|HKR1_ENST00000544914.1_Missense_Mutation_p.T238S P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 511 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCGGAAATCAACCCTGAGCAC 0.507000 5 67 0 0 0.248553 0 0 NOTCH4 4855 broad.mit.edu 37 6 32178697 32178697 + Silent SNP G G T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr6:32178697G>T ENST00000375023.3 - 18 2835 c.2697C>A c.(2695-2697)tcC>tcA p.S899S NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 899 EGF-like 23. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TGTGGCAAAGGGAAGAGACGT 0.582000 3 41 0.115264 0.128071 0.115264 1 0 RTN4R 65078 broad.mit.edu 37 22 20229582 20229582 + Silent SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr22:20229582C>T ENST00000043402.7 - 2 1512 c.1074G>A c.(1072-1074)gcG>gcA p.A358A NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 358 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GTCCCTTCAGCGCATTGCCTG 0.662000 12 50 0 0 0.520397 0 0 LEF1 51176 broad.mit.edu 37 4 109000758 109000758 + Silent SNP A A G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr4:109000758A>G ENST00000379951.2 - 6 1839 c.651T>C c.(649-651)caT>caC p.H217H LEF1_ENST00000438313.2_Silent_p.H217H|LEF1_ENST00000510624.1_Silent_p.H149H|LEF1_ENST00000265165.1_Silent_p.H245H NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 245 Pro-rich. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) CGGGAATCATATGATGGGAAA 0.468000 28 67 0 0 0.769981 0 0 EIF4G3 8672 broad.mit.edu 37 1 21155713 21155713 + Missense_Mutation SNP T T C TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr1:21155713T>C ENST00000602326.1 - 29 4547 c.3964A>G c.(3964-3966)Att>Gtt p.I1322V EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I1316V NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1316 MI. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TACAACCAAATATGGGGAATA 0.378000 38 101 0 0 0.812448 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30863150 30863150 + Missense_Mutation SNP T T G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr12:30863150T>G ENST00000251071.5 - 18 3820 c.3070A>C c.(3070-3072)Aac>Cac p.N1024H CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N690H|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N974H|CAPRIN2_ENST00000395805.2_3'UTR NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 1024 C1q. negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCTAAGTTGTTCAGAAGAAGA 0.443000 36 108 0 0 0.788014 0 0 TFR2 7036 broad.mit.edu 37 7 100229562 100229562 + Silent SNP G G A TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr7:100229562G>A ENST00000462107.1 - 9 1260 c.973C>T c.(973-975)Ctg>Ttg p.L325L TFR2_ENST00000223051.3_Silent_p.L325L|TFR2_ENST00000431692.1_Intron|TFR2_ENST00000544242.1_5'UTR Q9UP52 TFR2_HUMAN transferrin receptor 2 325 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CCAGTTCCCAGGTGCACCTGC 0.577000 3 104 0 0 0.115264 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 7 101 0 0 0.307466 0 0 ACVR1B 91 broad.mit.edu 37 12 52370109 52370109 + Splice_Site SNP A A T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr12:52370109A>T ENST00000257963.4 + 3 408 c.e3-1 ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site|ACVR1B_ENST00000415850.2_Splice_Site NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) CACTTGACTCAGGTCACCTCA 0.532000 4 92 0 0 0.150653 0 0 NEO1 4756 broad.mit.edu 37 15 73581488 73581488 + Splice_Site SNP G G A rs150727403 TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr15:73581488G>A ENST00000339362.5 + 26 4098 c.3649_splice c.e26-1 p.G1217_splice NEO1_ENST00000261908.6_Splice_Site_p.G1217_splice|NEO1_ENST00000558964.1_Splice_Site_p.G1206_splice|NEO1_ENST00000560262.1_Splice_Site_p.G1217_splice Q92859 NEO1_HUMAN neogenin 1 1217 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 AACATCTAGGGCATGAGTCAG 0.488000 10 29 0 0 0.411799 0 0 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 3 66 0 0 0.184627 0 0 TP53 7157 broad.mit.edu 37 17 7577580 7577580 + Missense_Mutation SNP T T C TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr17:7577580T>C ENST00000420246.2 - 7 833 c.701A>G c.(700-702)tAc>tGc p.Y234C TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 234 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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) CATGTAGTTGTAGTGGATGGT 0.572000 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) 13 55 0 0 0.435327 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 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 30 67 0 0 0.740014 0 0 CROCCP2 0 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 48 0 0 0.150653 0 0 AQP7 364 broad.mit.edu 37 9 33395107 33395107 + Missense_Mutation SNP A A G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr9:33395107A>G ENST00000539936.1 - 3 351 c.113T>C c.(112-114)cTg>cCg p.L38P AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR O14520 AQP7_HUMAN aquaporin 7 38 L -> V (in dbSNP:rs2381003). 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) GAACTCGGCCAGGAACTCTCG 0.587000 10 62 0 0 0.335167 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18573895 18573895 + Missense_Mutation SNP G G A TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr12:18573895G>A ENST00000433979.1 + 16 2329 c.2213G>A c.(2212-2214)cGt>cAt p.R738H PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779H|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738H NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 738 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) CAAGAAATTCGTAAAGTGGCA 0.363000 5 105 0 0 0.217242 0 0 MMP12 4321 broad.mit.edu 37 11 102743820 102743820 + RNA SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr11:102743820C>T ENST00000532855.1 - 0 221 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TATCTCAAGGCCATAAAATTT 0.333000 8 28 0 0 0.335167 0 0 ZBTB12 221527 broad.mit.edu 37 6 31868387 31868387 + Silent SNP A A G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr6:31868387A>G ENST00000375527.2 - 2 871 c.696T>C c.(694-696)ggT>ggC p.G232G C2_ENST00000469372.1_Intron NM_181842.2 NP_862825.1 Q9Y330 ZBT12_HUMAN zinc finger and BTB domain containing 12 232 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1) 10 CAATGCCCAGACCCCCTCCCA 0.662000 3 89 0 0 0.115264 0 0 PCSK2 5126 broad.mit.edu 37 20 17462658 17462658 + Silent SNP G G A TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr20:17462658G>A ENST00000262545.2 + 12 2175 c.1860G>A c.(1858-1860)gaG>gaA p.E620E PCSK2_ENST00000536609.1_Silent_p.E585E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.E601E NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 620 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AGGAGCTGGAGGAAGAGCTGG 0.587000 7 21 0 0 0.307466 0 0 TRPM6 140803 broad.mit.edu 37 9 77457155 77457155 + Missense_Mutation SNP T T C TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr9:77457155T>C ENST00000451710.3 - 4 494 c.257A>G c.(256-258)cAc>cGc p.H86R TRPM6_ENST00000449912.2_Missense_Mutation_p.H81R|TRPM6_ENST00000376864.4_Missense_Mutation_p.H86R|TRPM6_ENST00000376871.3_Missense_Mutation_p.H86R|TRPM6_ENST00000361255.3_Missense_Mutation_p.H81R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H86R|TRPM6_ENST00000360774.1_Missense_Mutation_p.H86R|TRPM6_ENST00000359047.2_Missense_Mutation_p.H86R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 86 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TTTCGTTGTGTGCTTTTCAAC 0.443000 6 158 0 0 0.248553 0 0 SLC24A3 57419 broad.mit.edu 37 20 19664885 19664885 + Missense_Mutation SNP C C G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr20:19664885C>G ENST00000328041.6 + 11 1164 c.967C>G c.(967-969)Ctt>Gtt p.L323V NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 323 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCCACACCAGCTTTCCTTCTC 0.498000 20 39 0 0 0.592651 0 0 RASA1 5921 broad.mit.edu 37 5 86659176 86659176 + Missense_Mutation SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr5:86659176C>T ENST00000456692.2 + 11 1049 c.934C>T c.(934-936)Cgt>Tgt p.R312C RASA1_ENST00000512763.1_Missense_Mutation_p.R322C|RASA1_ENST00000274376.6_Missense_Mutation_p.R489C|RASA1_ENST00000506290.1_Missense_Mutation_p.R323C NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 489 SH3. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CAAAGGAAAACGTTGGAAAAA 0.274000 16 75 0 0 0.520397 0 0 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G A rs28934874 TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr17:7578479G>A ENST00000420246.2 - 5 583 c.451C>T c.(451-453)Ccc>Tcc p.P151S TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 151 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612000 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) 19 61 0 0 0.557998 0 0 FOXA3 3171 broad.mit.edu 37 19 46376150 46376150 + Missense_Mutation SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr19:46376150C>T ENST00000302177.2 + 2 1084 c.887C>T c.(886-888)gCg>gTg p.A296V NM_004497.2 NP_004488.2 P55318 FOXA3_HUMAN forkhead box A3 296 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) AAGCTGGACGCGCCCTACAAC 0.602000 6 32 0 0 0.248553 0 0 MUC16 94025 broad.mit.edu 37 19 9046721 9046721 + Missense_Mutation SNP C C A TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr19:9046721C>A ENST00000397910.4 - 5 35113 c.34910G>T c.(34909-34911)aGt>aTt p.S11637I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11639 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTTGCAGAACTAGTGACCTG 0.522000 45 111 2.24893e-16 2.61504e-16 0.847076 1 0 HPS1 3257 broad.mit.edu 37 10 100195403 100195403 + Missense_Mutation SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr10:100195403C>T ENST00000325103.6 - 4 477 c.244G>A c.(244-246)Gtc>Atc p.V82I HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.V82I|HPS1_ENST00000338546.5_Missense_Mutation_p.V82I NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 82 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) AGGTGAAGGACATACAGGAAG 0.537000 Hermansky-Pudlak syndrome 6 182 0 0 0.217242 0 0 SBF2 81846 broad.mit.edu 37 11 9875143 9875143 + Missense_Mutation SNP C C A TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr11:9875143C>A ENST00000256190.8 - 20 2617 c.2480G>T c.(2479-2481)tGt>tTt p.C827F RP11-1H15.2_ENST00000533659.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 827 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) ACTCTCTGTACAAACTTTGTC 0.398000 4 190 0.150653 0.163754 0.150653 1 0 HYDIN 54768 broad.mit.edu 37 16 71098695 71098695 + Silent SNP C C G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr16:71098695C>G ENST00000393567.2 - 16 2274 c.2124G>C c.(2122-2124)ggG>ggC p.G708G HYDIN_ENST00000321489.5_Silent_p.G708G|HYDIN_ENST00000541601.1_Silent_p.G725G|HYDIN_ENST00000448691.1_Silent_p.G708G|HYDIN_ENST00000448089.2_Silent_p.G708G|HYDIN_ENST00000538248.1_Silent_p.G735G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 708 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GGAAGCAGTGCCCAAAGTCCA 0.502000 12 39 0 0 0.500413 0 0 DOCK7 85440 broad.mit.edu 37 1 63090967 63090967 + Missense_Mutation SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr1:63090967C>T ENST00000251157.5 - 12 1421 c.1388G>A c.(1387-1389)cGa>cAa p.R463Q DOCK7_ENST00000404627.2_Missense_Mutation_p.R463Q|DOCK7_ENST00000340370.5_Missense_Mutation_p.R463Q NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 463 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 AGTAGCTGGTCGAAAGCTCGT 0.388000 5 218 0 0 0.184627 0 0 DEPDC5 9681 broad.mit.edu 37 22 32293560 32293560 + Silent SNP C C T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr22:32293560C>T ENST00000400246.1 + 40 4438 c.4296C>T c.(4294-4296)ggC>ggT p.G1432G DEPDC5_ENST00000535622.1_Silent_p.G1332G|DEPDC5_ENST00000382111.2_Silent_p.G1432G|DEPDC5_ENST00000400248.1_Silent_p.G1401G|DEPDC5_ENST00000400249.2_Silent_p.G1401G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.G1423G|DEPDC5_ENST00000266091.3_Silent_p.G1410G|DEPDC5_ENST00000539165.1_Silent_p.G249G O75140 DEPD5_HUMAN DEP domain containing 5 1401 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ACCTGTATGGCGACCCCCTTC 0.547000 38 132 0 0 0.819951 0 0 OR5J2 282775 broad.mit.edu 37 11 55944144 55944144 + Missense_Mutation SNP G G C TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr11:55944144G>C ENST00000312298.1 + 1 51 c.51G>C c.(49-51)ttG>ttC p.L17F NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TTTTGGGATTGACAGATCATG 0.358000 39 148 0 0 0.840704 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 108 0 0 0.150653 0 0 LETMD1 25875 broad.mit.edu 37 12 51449667 51449667 + Missense_Mutation SNP C C G TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr12:51449667C>G ENST00000418425.2 + 5 581 c.562C>G c.(562-564)Caa>Gaa p.Q188E LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000552739.1_Missense_Mutation_p.Q58E|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q175E|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q119E NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 175 LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 GACCCCAAAACAACAAACTGA 0.413000 3 163 0 0 0.115264 0 0 AF146191.4 0 broad.mit.edu 37 4 190757381 190757382 + RNA INS - - CAC TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr4:190757381_190757382insCAC ENST00000511785.1 - 0 425 cacaccaccatcaccacatcac 0.510 4 3 --- --- --- --- FOXK1 221937 broad.mit.edu 37 7 4800775 4800776 + Frame_Shift_Ins INS - - C TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr7:4800775_4800776insC ENST00000328914.4 + 8 1777_1778 c.1777_1778insC c.(1777-1779)cccfs p.P593fs FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.P430fs NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 593 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) CAGCCAGATGGCCCCCGGGGTC 0.673 8 150 --- --- --- --- RP11-89K10.1 0 broad.mit.edu 37 8 127580025 127580026 + RNA INS - - CTTT rs149531186 by1000genomes TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr8:127580025_127580026insCTTT ENST00000519880.1 + 0 57 RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA tttcttgttccctttctttctt 0.455 3 4 --- --- --- --- IGHV3-33 0 broad.mit.edu 37 14 106816104 106816107 + RNA DEL TCTC TCTC - TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr14:106816104_106816107delTCTC ENST00000390615.2 - 0 126 TCACACTCAGTCTCTCTATTTCTC 0.471 7 6 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57524958 57524962 + Frame_Shift_Del DEL CCACC CCACC - TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chr15:57524958_57524962delCCACC ENST00000267811.5 + 11 1178_1182 c.874_878delCCACC c.(874-879)afs p.PP292fs TCF12_ENST00000452095.2_Frame_Shift_Del_p.PP288fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.PP56fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.PP292fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 292 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CACGAGTCTTCCACCAATGTCCAGC 0.424 T TEC extraskeletal myxoid chondrosarcoma 14 91 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939371 76939372 + Frame_Shift_Ins INS - - T TCGA-DB-5270-01A-02D-1468-08 TCGA-DB-5270-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf a52afc7f-a694-44cb-8235-ef78e8c30fa2 g.chrX:76939371_76939372insT ENST00000373344.5 - 9 1590_1591 c.1376_1377insA c.(1375-1377)atcfs p.I459fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.I421fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 459 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) TAGCTTCTGACTTTGAAATATC 0.361 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 80 343 --- --- --- ---