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 HFM1 164045 broad.mit.edu 37 1 91859724 91859724 + Missense_Mutation SNP C C G TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr1:91859724C>G ENST00000370425.3 - 4 518 c.420G>C c.(418-420)aaG>aaC p.K140N HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 140 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CAGGAACACTCTTCTCAGGTG 0.333 21 66 --- --- --- --- VIT 5212 broad.mit.edu 37 2 37035976 37035976 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:37035976G>A ENST00000379242.3 + 15 2053 c.1751G>A c.(1750-1752)aGt>aAt p.S584N VIT_ENST00000404084.1_Missense_Mutation_p.S521N|VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 569 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GGCTACTGGAGTGGTGGCACC 0.567 3 64 --- --- --- --- OTX1 5013 broad.mit.edu 37 2 63282957 63282957 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:63282957G>A ENST00000366671.3 + 5 847 c.571G>A c.(571-573)Gtg>Atg p.V191M OTX1_ENST00000282549.2_Missense_Mutation_p.V191M NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 191 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) GCCCGCGTCCGTGTCGGTGCC 0.682 3 16 --- --- --- --- DOK1 1796 broad.mit.edu 37 2 74783766 74783766 + Missense_Mutation SNP C C G TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:74783766C>G ENST00000233668.5 + 5 1640 c.971C>G c.(970-972)gCt>gGt p.A324G DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G|DOK1_ENST00000340004.6_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 324 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 AGCACGTCTGCTCAGGCAGGA 0.567 26 100 --- --- --- --- UBR3 130507 broad.mit.edu 37 2 170885949 170885949 + Missense_Mutation SNP T T A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr2:170885949T>A ENST00000272793.5 + 31 4597 c.4547T>A c.(4546-4548)aTg>aAg p.M1516K UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1516 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTAGAAGAGATGAATCCACAG 0.318 13 33 --- --- --- --- PLSCR1 5359 broad.mit.edu 37 3 146246434 146246434 + Silent SNP T T C TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:146246434T>C ENST00000342435.4 - 4 689 c.279A>G c.(277-279)ttA>ttG p.L93L PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L|PLSCR1_ENST00000448205.1_Intron NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 93 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GTGGACAGTTTAATGGAGGCT 0.428 65 99 --- --- --- --- PLSCR5 389158 broad.mit.edu 37 3 146307581 146307581 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:146307581C>T ENST00000443512.1 - 6 1639 c.636G>A c.(634-636)aaG>aaA p.K212K PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Silent_p.K212K|PLSCR5_ENST00000482567.1_Silent_p.K200K NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 212 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CAATTGTAAGCTTTTCATTAA 0.328 3 53 --- --- --- --- HTR3C 170572 broad.mit.edu 37 3 183778109 183778109 + Missense_Mutation SNP T T A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr3:183778109T>A ENST00000318351.1 + 9 1347 c.1313T>A c.(1312-1314)aTc>aAc p.I438N NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 438 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) GCCTCCTCCATCCTTACTGTC 0.567 90 170 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76532380 76532380 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:76532380C>T ENST00000429927.2 - 4 1232 c.529G>A c.(529-531)Gtc>Atc p.V177I CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 177 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CCATACTTGACATCACCAACC 0.418 41 54 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123091780 123091780 + Translation_Start_Site SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr4:123091780G>A ENST00000264501.4 + 0 351 KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame Q2LD37 K1109_HUMAN KIAA1109 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCCTTTAGATGTTGTTCTGGA 0.279 10 7 --- --- --- --- AC005609.1 0 broad.mit.edu 37 5 140242415 140242415 + Silent SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:140242415C>T ENST00000502505.1 - 1 809 c.561G>A c.(559-561)gcG>gcA p.A187A PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron GAGCGCGCGACGCGGGCATGC 0.637 8 33 --- --- --- --- TRIM31 11074 broad.mit.edu 37 6 30078314 30078314 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:30078314C>T ENST00000376734.3 - 4 780 c.655G>A c.(655-657)Gcc>Acc p.A219T TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 219 ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165). mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TCAGTGGAGGCAACATAGTGT 0.522 5 145 --- --- --- --- COL12A1 1303 broad.mit.edu 37 6 75812377 75812377 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:75812377G>A ENST00000322507.8 - 56 8660 c.8351C>T c.(8350-8352)cCt>cTt p.P2784L COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2784 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGGCCTGGAGGACCTATGTC 0.502 13 8 --- --- --- --- MAS1 4142 broad.mit.edu 37 6 160328313 160328313 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr6:160328313C>T ENST00000252660.4 + 1 340 c.326C>T c.(325-327)tCa>tTa p.S109L NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 109 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) GTCACATTATCAGTGACTTTT 0.453 34 88 --- --- --- --- RALYL 138046 broad.mit.edu 37 8 85097149 85097149 + Translation_Start_Site SNP A A T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr8:85097149A>T ENST00000517638.1 + 0 40 RALYL_ENST00000521695.1_Intron|RALYL_ENST00000521268.1_Intron|RALYL_ENST00000522455.1_Intron|RALYL_ENST00000518566.1_Intron NM_001100391.1 NP_001093861.1 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 GCTCCAGGCCACGCGAGCCGG 0.657 11 18 --- --- --- --- NTMT1 28989 broad.mit.edu 37 9 132397600 132397600 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr9:132397600G>T ENST00000372486.1 + 4 878 c.529G>T c.(529-531)Gac>Tac p.D177Y NTMT1_ENST00000482347.1_Missense_Mutation_p.D89Y|NTMT1_ENST00000372480.1_Missense_Mutation_p.D177Y|NTMT1_ENST00000372483.4_Missense_Mutation_p.D177Y|NTMT1_ENST00000372481.3_3'UTR N-terminal Xaa-Pro-Lys N-methyltransferase 1 CGTGATTCTGGACGACGTGGA 0.642 40 78 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129899951 129899951 + Silent SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr10:129899951G>A ENST00000368654.3 - 14 9651 c.9276C>T c.(9274-9276)cgC>cgT p.R3092R MKI67_ENST00000368653.3_Silent_p.R2732R NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3092 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGCGTCTGGAGCGCAGGGATA 0.363 3 30 --- --- --- --- FIBP 9158 broad.mit.edu 37 11 65652991 65652991 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:65652991G>A ENST00000338369.2 - 5 768 c.656C>T c.(655-657)cCc>cTc p.P219L FIBP_ENST00000357519.4_Intron|FIBP_ENST00000533045.1_Intron NM_198897.1 NP_942600.1 O43427 FIBP_HUMAN fibroblast growth factor (acidic) intracellular binding protein 219 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 10 READ - Rectum adenocarcinoma(159;0.166) TGGGTCAGTGGGGGCCTCACC 0.582 OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 130 --- --- --- --- CARD18 59082 broad.mit.edu 37 11 105009575 105009575 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:105009575C>A ENST00000530950.1 - 2 237 c.238G>T c.(238-240)Gac>Tac p.D80Y CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y|CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y NM_021571.3 NP_067546.1 P57730 CAR18_HUMAN caspase recruitment domain family, member 18 80 CARD. inflammatory response|regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity central_nervous_system(1)|ovary(1) 2 AGTTGAGGGTCTTCTTCACAG 0.408 24 179 --- --- --- --- EI24 9538 broad.mit.edu 37 11 125450015 125450015 + Silent SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr11:125450015C>A ENST00000278903.6 + 8 830 c.588C>A c.(586-588)atC>atA p.I196I EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_Silent_p.I196I|STT3A-AS1_ENST00000532714.1_RNA NM_004879.3 NP_004870.3 O14681 EI24_HUMAN etoposide induced 2.4 196 I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions). apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane large_intestine(1)|lung(9)|ovary(1) 11 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) TCTTTCCCATCCATCTTGTCG 0.423 104 179 --- --- --- --- SEMA6D 80031 broad.mit.edu 37 15 48058097 48058097 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr15:48058097G>T ENST00000316364.5 + 14 1898 c.1459G>T c.(1459-1461)Gtc>Ttc p.V487F SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 487 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AGACAAAAAGGTCATCTCATT 0.428 28 50 --- --- --- --- CDH8 1006 broad.mit.edu 37 16 61891049 61891049 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr16:61891049G>T ENST00000577390.1 - 4 1595 c.641C>A c.(640-642)cCt>cAt p.P214H CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 214 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GGAAAAATAAGGCTGCCCTTC 0.403 8 43 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:7578555C>T ENST00000420246.2 - 5 508 c.e5-1 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) CAGGGGAGTACTGTAGGAAGA 0.552 111 """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) 11 6 --- --- --- --- SLC5A10 125206 broad.mit.edu 37 17 18863892 18863892 + Missense_Mutation SNP G G A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:18863892G>A ENST00000317977.6 + 5 783 c.212G>A c.(211-213)cGc>cAc p.R71H SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H NM_001282417.1 NP_001269346.1 A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 127 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 ATTCAGAAGCGCTACGGGGGC 0.607 OREG0024231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 248 --- --- --- --- AOC2 314 broad.mit.edu 37 17 41002342 41002342 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:41002342C>A ENST00000253799.3 + 4 2275 c.2248C>A c.(2248-2250)Cct>Act p.P750T AOC2_ENST00000452774.2_Missense_Mutation_p.P723T NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 750 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGACTTACCCCCTTTCTCTTA 0.557 5 255 --- --- --- --- FASN 2194 broad.mit.edu 37 17 80046850 80046850 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr17:80046850G>T ENST00000306749.2 - 14 2517 c.2299C>A c.(2299-2301)Ctg>Atg p.L767M NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 767 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CCTACCTGCAGCAGGGCGTGG 0.697 7 9 --- --- --- --- ROCK1 6093 broad.mit.edu 37 18 18625328 18625328 + Missense_Mutation SNP T T C TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr18:18625328T>C ENST00000399799.2 - 5 1455 c.515A>G c.(514-516)gAa>gGa p.E172G NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TGCCCATTTTTCAGGCACATC 0.368 8 5 --- --- --- --- PSG4 5672 broad.mit.edu 37 19 43708257 43708257 + Missense_Mutation SNP G G T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr19:43708257G>T ENST00000405312.3 - 2 448 c.211C>A c.(211-213)Caa>Aaa p.Q71K PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 71 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TATGTCATTTGCCCTTTGTAC 0.418 73 144 --- --- --- --- DIP2A 23181 broad.mit.edu 37 21 47971767 47971767 + Missense_Mutation SNP C C T TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr21:47971767C>T ENST00000318711.7 + 25 3166 c.2983C>T c.(2983-2985)Cgt>Tgt p.R995C DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 994 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GCTGCAGTGGCGTGCCCACAC 0.662 5 25 --- --- --- --- DCAF8L2 347442 broad.mit.edu 37 X 27766321 27766321 + Missense_Mutation SNP C C A TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chrX:27766321C>A ENST00000451261.2 + 5 1708 c.1309C>A c.(1309-1311)Ctg>Atg p.L437M NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TGGCACAGAGCTGCTAGCCAG 0.428 3 42 --- --- --- --- HSPA9 3313 broad.mit.edu 37 5 137892208 137892209 + Frame_Shift_Del DEL TT TT - TCGA-HC-7213-01A-11D-2114-08 TCGA-HC-7213-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 423b7b92-135d-40ff-9db4-37afd44f6094 89d60af8-dd60-4b74-88f5-779f6e026865 g.chr5:137892208_137892209delTT ENST00000297185.3 - 16 2019_2020 c.1894_1895delAA c.(1894-1896)aatfs p.N632fs HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 632 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGTCTAATATTTTCTCCTGTT 0.401 86 100 --- --- --- ---