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 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 7 117 0 0 1 0 0 RUNX2 860 broad.mit.edu 37 6 45390466 45390466 + Silent SNP A A G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr6:45390466A>G ENST00000371438.1 + 2 553 c.195A>G c.(193-195)caA>caG p.Q65Q RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 65 Poly-Gln. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 agcagcagcaacagcagcagc 0.731000 3 39 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235929422 235929422 + Nonsense_Mutation SNP G G T rs80338660 TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr1:235929422G>T ENST00000389794.3 - 21 6252 c.6078C>A c.(6076-6078)taC>taA p.Y2026* LYST_ENST00000389793.2_Nonsense_Mutation_p.Y2026*|LYST_ENST00000536965.1_3'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 2026 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGTGACAAACGTAAGTATTAG 0.343000 6 138 5.18039e-06 5.18039e-06 1 1 0 NFKB1 4790 broad.mit.edu 37 4 103516122 103516122 + Silent SNP T T C TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr4:103516122T>C ENST00000226574.4 + 13 1751 c.1284T>C c.(1282-1284)aaT>aaC p.N428N NFKB1_ENST00000600343.1_Silent_p.N247N|NFKB1_ENST00000505458.1_Silent_p.N427N|NFKB1_ENST00000394820.4_Silent_p.N427N NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 427 Gly-rich. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CTAAATCTAATGCTGGGATGA 0.333000 24 42 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544639 186544639 + Silent SNP A A G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr4:186544639A>G ENST00000431808.1 - 14 2495 c.1932T>C c.(1930-1932)caT>caC p.H644H SORBS2_ENST00000418609.1_Silent_p.H548H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000284776.7_Silent_p.H644H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.H744H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 644 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ggtggtggtgatggtggtggt 0.522000 3 38 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145532464 145532464 + Missense_Mutation SNP G G C TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr1:145532464G>C ENST00000369304.3 + 9 1092 c.917G>C c.(916-918)gGt>gCt p.G306A ITGA10_ENST00000538811.1_Missense_Mutation_p.G175A|ITGA10_ENST00000539363.1_Missense_Mutation_p.G163A|ITGA10_ENST00000481236.1_3'UTR NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 306 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TAGGTCCTTGGTCACTACCTC 0.458000 10 48 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 35 15 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059040 79059040 + Silent SNP A A G rs144043775 by1000genomes TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr15:79059040A>G ENST00000388820.4 - 19 3423 c.3213T>C c.(3211-3213)aaT>aaC p.N1071N NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1071 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N1071N(2)|p.N1071S(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCTCGTGGAAATTGATGAAAT 0.617000 3 45 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65007789 65007789 + Silent SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr14:65007789G>A ENST00000247207.6 + 1 604 c.222G>A c.(220-222)ctG>ctA p.L74L HSPA2_ENST00000394709.1_Silent_p.L74L|HSPA2_ENST00000554883.1_Intron NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 74 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CCAAGAGGCTGATTGGACGGA 0.597000 12 21 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47421443 47421443 + Silent SNP C C T TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr18:47421443C>T ENST00000285039.7 - 22 3212 c.2913G>A c.(2911-2913)caG>caA p.Q971Q MYO5B_ENST00000324581.6_Silent_p.Q112Q NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 971 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CACCTGGGCTCTGCTGGTAGT 0.587000 22 38 0 0 1 0 0 DGAT1 8694 broad.mit.edu 37 8 145541987 145541987 + Missense_Mutation SNP A A G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr8:145541987A>G ENST00000332324.4 - 7 886 c.613T>C c.(613-615)Ttc>Ctc p.F205L DGAT1_ENST00000531896.1_Missense_Mutation_p.F205L NM_012079.4 NP_036211.2 O75907 DGAT1_HUMAN diacylglycerol O-acyltransferase 1 205 triglyceride biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AGCTTGAGGAAGAGGATGGTG 0.692000 10 22 0 0 1 0 0 ERCC8 1161 broad.mit.edu 37 5 60214156 60214156 + Missense_Mutation SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr5:60214156G>A ENST00000426742.2 - 5 595 c.161C>T c.(160-162)aCt>aTt p.T54I ERCC8_ENST00000543101.1_5'UTR|ERCC8_ENST00000265038.5_Missense_Mutation_p.T112I|AC104113.3_ENST00000457499.1_RNA Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 112 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) GAACATGCCAGTGTCATGAGG 0.348000 17 41 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43712934 43712934 + Splice_Site SNP C C G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr15:43712934C>G ENST00000263801.3 - 21 4488 c.e21-1 TP53BP1_ENST00000450115.2_Splice_Site|TP53BP1_ENST00000382039.3_Splice_Site|TP53BP1_ENST00000382044.4_Splice_Site NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AGCTGTTTCTCTAAAGAGAGA 0.498000 Other conserved DNA damage response genes 11 28 0 0 1 0 0 MARCH5 54708 broad.mit.edu 37 10 94109245 94109245 + Missense_Mutation SNP G G A TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr10:94109245G>A ENST00000358935.2 + 4 841 c.509G>A c.(508-510)cGc>cAc p.R170H MARCH5_ENST00000467521.2_3'UTR NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 170 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 AGACTGTGGCGCAAATACTCG 0.373000 4 89 0 0 1 0 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811972 129811972 + RNA SNP G G C TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr3:129811972G>C ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA TTGACGGACAGAACCTTCCTT 0.408000 3 47 0 0 1 0 0 GNAI3 2773 broad.mit.edu 37 1 110091364 110091364 + Frame_Shift_Del DEL G G - TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr1:110091364delG ENST00000369851.4 + 1 132 c.22delG c.(22-24)aafs p.E8fs NM_006496.3 NP_006487.1 P08754 GNAI3_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 8 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237) GTTGAGCGCCGAAGACAAGGC 0.642 2 4 --- --- --- --- NOXA1 10811 broad.mit.edu 37 9 140327988 140327988 + Frame_Shift_Del DEL A A - TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr9:140327988delA ENST00000341349.2 + 11 1173 c.993delA c.(991-993)ggfs p.G331fs NOXA1_ENST00000392815.2_Frame_Shift_Del_p.G275fs NM_001256067.1|NM_006647.1 NP_001242996.1|NP_006638.1 Q86UR1 NOXA1_HUMAN NADPH oxidase activator 1 331 OPR. Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate). regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process cytoplasm|NADPH oxidase complex Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) CACGAAGAGGAGCCGACCTGT 0.701 2 4 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 6 9 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-S7-A7WN-01A-12D-A35I-08 TCGA-S7-A7WN-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d79ad63-503c-4bd0-aff3-5610dbf35d6a 6e84f646-7234-440a-91b2-e790945f9726 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 3 5 --- --- --- ---