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 HFM1 164045 broad.mit.edu 37 1 91818120 91818120 + Silent SNP A A G TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr1:91818120A>G ENST00000370425.3 - 16 2018 c.1920T>C c.(1918-1920)ttT>ttC p.F640F HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Silent_p.F319F NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 640 Helicase C-terminal. 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) TGTACTCTTCAAACAGTCCTC 0.358000 19 99 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261778 39261778 + Silent SNP A A G rs143952367 by1000genomes TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr17:39261778A>G ENST00000391415.1 + 1 195 c.138A>G c.(136-138)gtA>gtG p.V46V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 46 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 GCTGTTGTGTATCCAGCTGCT 0.652000 4 54 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561501 44561501 + Silent SNP C C T TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr18:44561501C>T ENST00000332567.4 - 1 487 c.135G>A c.(133-135)gcG>gcA p.A45A KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 45 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTCCAGTCTCCGCCAGGATGT 0.577000 11 43 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 134 0 0 1 0 0 SLC30A2 7780 broad.mit.edu 37 1 26371659 26371659 + Missense_Mutation SNP G G C TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr1:26371659G>C ENST00000374278.3 - 2 316 c.100C>G c.(100-102)Ccc>Gcc p.P34A SLC30A2_ENST00000374276.3_Missense_Mutation_p.P34A|SLC30A2_ENST00000498060.1_5'UTR NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 34 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGTCGGGGCAGAGGAATC 0.597000 24 50 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94923103 94923103 + Missense_Mutation SNP G G A TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr11:94923103G>A ENST00000536441.1 - 4 701 c.365C>T c.(364-366)tCt>tTt p.S122F SESN3_ENST00000393234.1_Missense_Mutation_p.S122F|SESN3_ENST00000416495.2_Missense_Mutation_p.S122F|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Intron|RP11-712B9.2_ENST00000534864.1_RNA NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 122 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TATTAAGTAAGAACACTGATG 0.328000 20 61 0 0 1 0 0 RBMS2 5939 broad.mit.edu 37 12 56975653 56975653 + Missense_Mutation SNP C C G TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr12:56975653C>G ENST00000262031.5 + 8 864 c.769C>G c.(769-771)Ctt>Gtt p.L257V RBMS2_ENST00000552247.2_Missense_Mutation_p.L257V|RBMS2_ENST00000542360.1_Missense_Mutation_p.L112V|RBMS2_ENST00000550726.1_Missense_Mutation_p.L132V NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 257 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 CACCACAGCTCTTCAGAATGG 0.433000 5 211 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64515592 64515592 + Silent SNP C C T rs148616064 TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr1:64515592C>T ENST00000371079.1 + 3 768 c.393C>T c.(391-393)tgC>tgT p.C131C ROR1_ENST00000371080.1_Silent_p.C131C|ROR1_ENST00000482426.1_3'UTR NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 131 Ig-like C2-type. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ACTTCCAGTGCGTGGCAACAA 0.567000 44 81 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153313006 153313006 + Missense_Mutation SNP G G C TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr1:153313006G>C ENST00000368739.3 - 7 1021 c.663C>G c.(661-663)caC>caG p.H221Q PGLYRP4_ENST00000359650.5_Missense_Mutation_p.H225Q Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 225 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCCTGGGACAGTGGGTCTCCC 0.602000 8 88 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38799315 38799315 + Missense_Mutation SNP G G T TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr4:38799315G>T ENST00000308979.2 - 4 1411 c.1138C>A c.(1138-1140)Caa>Aaa p.Q380K TLR1_ENST00000502213.2_Missense_Mutation_p.Q380K NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 380 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 TGATTCATTTGTAAAATAAGT 0.343000 3 61 1 1 1 1 0 ATRX 546 broad.mit.edu 37 X 76939964 76939964 + Nonsense_Mutation SNP G G A TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chrX:76939964G>A ENST00000373344.5 - 9 998 c.784C>T c.(784-786)Caa>Taa p.Q262* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q224* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 262 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CAATACCATTGGTTGTTTTCA 0.393000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 146 59 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 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 28 72 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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) 35 11 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130185090 130185090 + Missense_Mutation SNP C C T TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr12:130185090C>T ENST00000422113.2 - 2 559 c.233G>A c.(232-234)cGg>cAg p.R78Q NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 78 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGACTCCACCCGGGACTGCAG 0.547000 27 64 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 179016595 179016595 + Nonsense_Mutation SNP C C T TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr5:179016595C>T ENST00000319449.4 + 9 1087 c.1075C>T c.(1075-1077)Cag>Tag p.Q359* RUFY1_ENST00000377001.2_Missense_Mutation_p.A407V|RUFY1_ENST00000393438.2_Nonsense_Mutation_p.Q251*|RUFY1_ENST00000437570.2_Nonsense_Mutation_p.Q251* NM_025158.4 NP_079434.3 Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 359 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAACAGCAGCAGTTAAGAGA 0.353000 HNSCC(44;0.11) 25 48 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109294621 109294621 + Silent SNP T T C TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr6:109294621T>C ENST00000392644.4 + 18 2676 c.2508T>C c.(2506-2508)caT>caC p.H836H ARMC2_ENST00000368972.3_Silent_p.H671H NM_032131.4 NP_115507.4 Q8NEN0 ARMC2_HUMAN armadillo repeat containing 2 836 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) ACAAACTCCATTGGGAAACAG 0.393000 50 70 0 0 1 0 0 GPR45 11250 broad.mit.edu 37 2 105858978 105858978 + Silent SNP G G A rs141451236 TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr2:105858978G>A ENST00000258456.1 + 1 779 c.663G>A c.(661-663)acG>acA p.T221T NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 221 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 TCCTCAACACGGTCCGCAAGA 0.677000 25 62 0 0 1 0 0 LIMA1 51474 broad.mit.edu 37 12 50586281 50586281 + Missense_Mutation SNP G G A TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr12:50586281G>A ENST00000547825.1 - 3 1457 c.188C>T c.(187-189)tCc>tTc p.S63F LIMA1_ENST00000552783.1_Missense_Mutation_p.S206F|LIMA1_ENST00000341247.4_Missense_Mutation_p.S365F|LIMA1_ENST00000552909.1_Missense_Mutation_p.S205F|LIMA1_ENST00000552823.1_Missense_Mutation_p.S205F|LIMA1_ENST00000394943.3_Missense_Mutation_p.S366F|LIMA1_ENST00000552491.1_Missense_Mutation_p.S63F|LIMA1_ENST00000552008.1_5'UTR NM_001243775.1 NP_001230704.1 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 365 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 GGAGGCTCTGGAATCTGGACT 0.458000 8 90 0 0 1 0 0 SNED1 25992 broad.mit.edu 37 2 241969887 241969887 + Missense_Mutation SNP G G A TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr2:241969887G>A ENST00000310397.8 + 2 400 c.400G>A c.(400-402)Gtc>Atc p.V134I SNED1_ENST00000401884.1_Missense_Mutation_p.V134I|SNED1_ENST00000342631.6_Missense_Mutation_p.V134I|SNED1_ENST00000405547.3_Missense_Mutation_p.V134I|AC005237.4_ENST00000458377.1_RNA NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 134 NIDO. cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CACGGAGGACGTCAGGCACTA 0.627000 6 22 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143793006 143793006 + Missense_Mutation SNP G G A TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr7:143793006G>A ENST00000408949.2 + 1 866 c.806G>A c.(805-807)cGg>cAg p.R269Q NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TCTCAAGAACGGAGGAAGATC 0.527000 8 335 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258829 56258829 + Silent SNP C C T rs137871700 TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr11:56258829C>T ENST00000327216.2 - 1 42 c.18G>A c.(16-18)acG>acA p.T6T NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) CAGTCACCAACGTGCAGTTTC 0.408000 36 88 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55607493 55607493 + Missense_Mutation SNP G G C TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr19:55607493G>C ENST00000263433.3 - 8 1094 c.1079C>G c.(1078-1080)tCc>tGc p.S360C PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S286C|PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S360C NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 360 cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GCGCTCCTTGGACAAGTCCTG 0.657000 14 83 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152406213 152406213 + Silent SNP A A G TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr2:152406213A>G ENST00000397345.3 - 130 20188 c.19986T>C c.(19984-19986)taT>taC p.Y6662Y NEB_ENST00000172853.10_Silent_p.Y4961Y|NEB_ENST00000427231.2_Silent_p.Y6662Y|NEB_ENST00000603639.1_Silent_p.Y6662Y|NEB_ENST00000604864.1_Silent_p.Y6662Y|NEB_ENST00000409198.1_Silent_p.Y4961Y NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 4961 SH3. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGGAAGTCTATATCCAGTGG 0.488000 4 22 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237619969 237619969 + Missense_Mutation SNP G G T TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr1:237619969G>T ENST00000366574.2 + 16 1863 c.1546G>T c.(1546-1548)Gat>Tat p.D516Y RYR2_ENST00000360064.6_Missense_Mutation_p.D514Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D500Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 516 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACACTTTGCTGATGTTGCTGG 0.438000 4 137 1 1 1 1 0 ADAM32 203102 broad.mit.edu 37 8 39091490 39091490 + Silent SNP G G C TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr8:39091490G>C ENST00000379907.4 + 16 1834 c.1707G>C c.(1705-1707)gtG>gtC p.V569V ADAM32_ENST00000437682.2_Silent_p.V470V|ADAM32_ENST00000519315.1_Silent_p.V463V NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 569 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATGGTGATGTGATTTATGCTT 0.368000 8 16 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241696841 241696843 + In_Frame_Del DEL TCC TCC - rs71779512 TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr2:241696841_241696843delTCC ENST00000498729.2 - 27 2997_2999 c.2751_2753delGGA c.(2749-2754)gat>ga p.ED917del KIF1A_ENST00000320389.7_Intron NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 697 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ctcctcctcatcctcctcctcct 0.675 2 4 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134072600 134072601 + Frame_Shift_Ins INS - - C TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr4:134072600_134072601insC ENST00000264360.4 + 1 2131_2132 c.1305_1306insC c.(1303-1308)gcgggafs p.AG435fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 435 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A435A(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CTGTAGTGGCTCGGGACCGGGG 0.594 8 299 --- --- --- --- RP11-119F19.2 0 broad.mit.edu 37 10 81444693 81444693 + RNA DEL C C - TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr10:81444693delC ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GGCGCTCCTACCAGCAGCAGT 0.557 2 4 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116066621 116066622 + RNA INS - - CA rs145364106 by1000genomes TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr12:116066621_116066622insCA ENST00000551940.1 - 0 90 GGTGGGTGTTTcacacacacac 0.356 3 3 --- --- --- --- UBE2Q2P3 0 broad.mit.edu 37 15 83040943 83040944 + RNA INS - - T TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr15:83040943_83040944insT ENST00000558477.1 + 0 233 NR_004847.2 GAACAAAAATCTTTTTTTTTTT 0.312 2 4 --- --- --- --- RP11-333E1.1 0 broad.mit.edu 37 17 5096766 5096766 + RNA DEL A A - TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr17:5096766delA ENST00000571689.1 + 0 60 RP11-333E1.1_ENST00000575601.1_RNA NR_034082.1 tcaaaaaaataaaaaaaaaaa 0.507 4 2 --- --- --- --- UHRF1 29128 broad.mit.edu 37 19 4960949 4960949 + RNA DEL T T - rs147409935 TCGA-DB-5273-01A-01D-1468-08 TCGA-DB-5273-10A-01D-1468-08 Untested Somatic Phase_I WXS none Illumina GAIIx 938f1aec-2069-4c76-8110-7f086b59e86b 54997159-244a-485c-a81f-e546b76046e8 g.chr19:4960949delT ENST00000592666.1 + 0 3092 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) TTTGTCTTCCttttttttttt 0.343 6 1 --- --- --- ---