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 TRPA1 8989 broad.mit.edu 37 8 72967934 72967934 + Missense_Mutation SNP G G T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr8:72967934G>T ENST00000262209.4 - 11 1558 c.1351C>A c.(1351-1353)Cat>Aat p.H451N RP11-383H13.1_ENST00000457356.4_3'UTR NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 451 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GCTGCAAAATGCAGAGGTGAT 0.373000 12 55 3.07112e-06 3.33436e-06 1 1 0 CLCN1 1180 broad.mit.edu 37 7 143029831 143029831 + Missense_Mutation SNP A A C TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr7:143029831A>C ENST00000343257.2 + 12 1353 c.1266A>C c.(1264-1266)gaA>gaC p.E422D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 422 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGCCCCGCGAAGCCATCAGTA 0.527000 73 92 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162622178 162622178 + Silent SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr6:162622178C>T ENST00000366898.1 - 4 621 c.519G>A c.(517-519)acG>acA p.T173T PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366892.1_Silent_p.T173T|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.T173T NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 173 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TCAAGGTGAGCGTTGCCTGCC 0.463000 23 45 0 0 1 0 0 KRTAP1-3 81850 broad.mit.edu 37 17 39190675 39190675 + Nonsense_Mutation SNP G G T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr17:39190675G>T ENST00000344363.5 - 1 432 c.399C>A c.(397-399)tgC>tgA p.C133* NM_030966.1 NP_112228.1 Q8IUG1 KRA13_HUMAN keratin associated protein 1-3 143 extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6) 12 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCAGCTGGCAGCAGGTTGGGG 0.672000 11 25 3.86212e-05 4.07668e-05 1 1 0 FLVCR1 28982 broad.mit.edu 37 1 213032441 213032441 + Missense_Mutation SNP T T G TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr1:213032441T>G ENST00000366971.4 + 1 845 c.647T>G c.(646-648)tTc>tGc p.F216C NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 216 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) GCCCAGGTGTTCATCCTGGGC 0.607000 21 21 0 0 1 0 0 DAO 1610 broad.mit.edu 37 12 109288095 109288095 + Silent SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr12:109288095G>A ENST00000228476.3 + 7 768 c.564G>A c.(562-564)gcG>gcA p.A188A DAO_ENST00000551281.1_Silent_p.A122A NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 188 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 GGGCTGGGGCGCTACAACGAG 0.572000 6 15 0 0 1 0 0 AK8 158067 broad.mit.edu 37 9 135698626 135698626 + Silent SNP G G T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr9:135698626G>T ENST00000298545.3 - 9 1376 c.855C>A c.(853-855)gcC>gcA p.A285A AK8_ENST00000477396.1_5'UTR NM_152572.2 NP_689785.1 Q96MA6 KAD8_HUMAN adenylate kinase 8 285 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2) 23 CCAGGAGGGCGGCCTGCAGAC 0.627000 4 127 0.150653 0.150653 1 1 0 EIF3C 8663 broad.mit.edu 37 16 28734595 28734595 + Missense_Mutation SNP A A G TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr16:28734595A>G ENST00000331666.6 + 9 1073 c.887A>G c.(886-888)aAt>aGt p.N296S EIF3C_ENST00000566866.1_Missense_Mutation_p.N296S|EIF3C_ENST00000564243.1_Missense_Mutation_p.N286S|EIF3C_ENST00000395587.1_Missense_Mutation_p.N296S|EIF3C_ENST00000566501.1_Missense_Mutation_p.N296S Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 296 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GAGGAGGACAATGAAGGCGGG 0.532000 144 556 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10107082 10107082 + Missense_Mutation SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr3:10107082G>A ENST00000287647.3 + 24 2266 c.2173G>A c.(2173-2175)Gtg>Atg p.V725M FANCD2_ENST00000383806.1_Missense_Mutation_p.V725M|FANCD2_ENST00000419585.1_Missense_Mutation_p.V725M|FANCD2_ENST00000383807.1_Missense_Mutation_p.V725M NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 725 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TCTCAGATTGGTGTCTCCGCT 0.438000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 28 56 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813675 106813675 + Silent SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr8:106813675G>A ENST00000407775.2 + 8 1615 c.1365G>A c.(1363-1365)gaG>gaA p.E455E RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.E323E|ZFPM2_ENST00000517361.1_Silent_p.E323E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.E186E NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 455 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGAGACCAGAGATACAGCCTA 0.443000 19 31 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115391645 115391645 + Missense_Mutation SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr10:115391645C>T ENST00000369358.4 - 17 1955 c.1711G>A c.(1711-1713)Gcc>Acc p.A571T NRAP_ENST00000359988.3_Missense_Mutation_p.A571T|NRAP_ENST00000369360.3_Missense_Mutation_p.A536T|NRAP_ENST00000360478.3_Missense_Mutation_p.A536T Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 571 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding p.A571T(2) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GAGGCTTTGGCGGCCAGCAGA 0.453000 4 112 0 0 1 0 0 IL1A 3552 broad.mit.edu 37 2 113539246 113539246 + Missense_Mutation SNP C C T rs3783531 byFrequency TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr2:113539246C>T ENST00000263339.3 - 4 409 c.254G>A c.(253-255)cGg>cAg p.R85Q NM_000575.3 NP_000566.3 P01583 IL1A_HUMAN interleukin 1, alpha 85 R -> Q (in dbSNP:rs3783531). anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion cytosol|extracellular space copper ion binding|cytokine activity|interleukin-1 receptor binding breast(2)|large_intestine(1)|lung(9) 12 TAAACTCAACCGTCTCTTCTT 0.453000 5 194 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126748827 126748827 + Missense_Mutation SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr3:126748827G>A ENST00000251772.4 + 27 4981 c.4912G>A c.(4912-4914)Gac>Aac p.D1638N PLXNA1_ENST00000393409.2_Missense_Mutation_p.D1661N Q9UIW2 PLXA1_HUMAN plexin A1 1661 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) GAAGAACCACGACCACCTGGA 0.667000 35 46 0 0 1 0 0 MRPL52 122704 broad.mit.edu 37 14 23299461 23299461 + Missense_Mutation SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr14:23299461C>T ENST00000355151.5 + 3 185 c.155C>T c.(154-156)gCg>gTg p.A52V MRPL52_ENST00000432849.3_Missense_Mutation_p.A51V|MRPL52_ENST00000557221.1_Missense_Mutation_p.R2W|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000397505.2_Missense_Mutation_p.A52V|MRPL52_ENST00000397496.3_Missense_Mutation_p.A51V NM_178336.2|NM_180982.2|NM_181306.2 NP_848026.1|NP_851313.1|NP_851823.1 Q86TS9 RM52_HUMAN mitochondrial ribosomal protein L52 52 translation mitochondrial large ribosomal subunit structural constituent of ribosome all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TGGTCATATGCGGGTAAGCGC 0.602000 4 107 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806426 54806426 + Missense_Mutation SNP C C A rs147144028 by1000genomes TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr6:54806426C>A ENST00000306858.7 + 5 2773 c.2657C>A c.(2656-2658)gCc>gAc p.A886D NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 886 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GATGCCTCTGCCCCAAGATTT 0.448000 31 35 5.90632e-09 6.80122e-09 1 1 0 TFB1M 51106 broad.mit.edu 37 6 155632395 155632395 + Missense_Mutation SNP C C G TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr6:155632395C>G ENST00000367166.4 - 2 267 c.212G>C c.(211-213)aGa>aCa p.R71T TFB1M_ENST00000480390.1_5'UTR NM_016020.3 NP_057104.2 Q8WVM0 TFB1M_HUMAN transcription factor B1, mitochondrial 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131) AAGAATAGATCTTGTGATTCC 0.428000 33 47 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684108 100684108 + Silent SNP C C A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr7:100684108C>A ENST00000306151.4 + 3 9475 c.9411C>A c.(9409-9411)acC>acA p.T3137T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3137 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACCTGTGACCACTTCTACTG 0.493000 7 462 0.00448238 0.00460353 1 1 0 RYR2 6262 broad.mit.edu 37 1 237893572 237893572 + Silent SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr1:237893572C>T ENST00000366574.2 + 77 11168 c.10851C>T c.(10849-10851)gtC>gtT p.V3617V RYR2_ENST00000360064.6_Silent_p.V3615V|RYR2_ENST00000542537.1_Silent_p.V3601V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3617 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) ATCGGGCTGTCAATCTCTTTC 0.333000 13 21 0 0 1 0 0 FAM83D 81610 broad.mit.edu 37 20 37580707 37580707 + Silent SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr20:37580707G>A ENST00000217429.4 + 4 1433 c.1392G>A c.(1390-1392)acG>acA p.T464T NM_030919.2 NP_112181.2 Q9H4H8 FA83D_HUMAN family with sequence similarity 83, member D 434 Ser-rich. cell division|mitosis cytoplasm|spindle pole endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1) 28 Myeloproliferative disorder(115;0.00878) CTCAAACCACGATTTGGTCCA 0.493000 29 39 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27412531 27412531 + Silent SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr10:27412531G>A ENST00000326799.3 - 11 1366 c.1218C>T c.(1216-1218)tcC>tcT p.S406S YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Silent_p.S349S|YME1L1_ENST00000375972.3_Silent_p.S316S NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 406 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CATCAAATTCGGATCCAGAAG 0.438000 48 88 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458348 42458348 + Missense_Mutation SNP C C A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr17:42458348C>A ENST00000262407.5 - 13 1323 c.1292G>T c.(1291-1293)aGg>aTg p.R431M ITGA2B_ENST00000377068.3_Missense_Mutation_p.R116M|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R431M NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 431 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity p.R431M(1) biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGGACGTGACCTCAGCCCCTC 0.617000 21 20 1.87028e-06 2.09032e-06 1 1 0 SLC44A4 80736 broad.mit.edu 37 6 31833774 31833774 + Missense_Mutation SNP T T C TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr6:31833774T>C ENST00000544672.1 - 14 1431 c.1135A>G c.(1135-1137)Aac>Gac p.N379D SLC44A4_ENST00000229729.6_Missense_Mutation_p.N455D|SLC44A4_ENST00000375562.4_Missense_Mutation_p.N413D NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 455 LATSGQPQ -> PLPTQPATLG (in Ref. 4; AAD21813 and 5; BAB63296). integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AGTACCCAGTTAAGGGTCCAG 0.557000 3 86 0 0 1 0 0 MMP17 4326 broad.mit.edu 37 12 132329952 132329952 + Missense_Mutation SNP G G A TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr12:132329952G>A ENST00000360564.1 + 8 1264 c.1162G>A c.(1162-1164)Gtg>Atg p.V388M MMP17_ENST00000535004.1_5'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.V304M NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 388 Hemopexin-like 2. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CGTGGACGCCGTGTACGAGCG 0.692000 10 9 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732860 152732860 + Missense_Mutation SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr1:152732860C>T ENST00000368773.1 + 2 854 c.796C>T c.(796-798)Ccc>Tcc p.P266S KPRP_ENST00000606109.1_Missense_Mutation_p.P266S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 266 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGCTTTTCCCCCGCAGCTG 0.617000 20 32 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 68 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88328681 88328681 + Silent SNP T T C TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr13:88328681T>C ENST00000325089.6 + 2 1257 c.1038T>C c.(1036-1038)tcT>tcC p.S346S SLITRK5_ENST00000400028.3_Silent_p.S105S NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 346 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCCCCACCTCTCGGCAGCCCT 0.587000 43 59 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204926875 204926875 + Silent SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr1:204926875C>T ENST00000367172.4 + 8 955 c.627C>T c.(625-627)acC>acT p.T209T NFASC_ENST00000367171.4_Silent_p.T209T|NFASC_ENST00000338515.6_Silent_p.T209T|NFASC_ENST00000367169.4_Silent_p.T209T|NFASC_ENST00000513543.1_Silent_p.T203T|NFASC_ENST00000539706.1_Silent_p.T203T|NFASC_ENST00000403080.1_Silent_p.T209T|NFASC_ENST00000401399.1_Silent_p.T209T|NFASC_ENST00000404076.1_Silent_p.T203T|NFASC_ENST00000367170.4_Silent_p.T209T|NFASC_ENST00000338586.6_Silent_p.T209T|NFASC_ENST00000404907.1_Silent_p.T203T|NFASC_ENST00000360049.4_Silent_p.T203T|NFASC_ENST00000339876.6_Silent_p.T209T O94856 NFASC_HUMAN neurofascin 209 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.T209T(1)|p.T203T(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACATGCAGACCGACTACAGTT 0.537000 11 73 0 0 1 0 0 GGPS1 9453 broad.mit.edu 37 1 235505067 235505067 + Silent SNP C C T TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr1:235505067C>T ENST00000282841.5 + 3 347 c.115C>T c.(115-117)Ctg>Ttg p.L39L GGPS1_ENST00000358966.2_Silent_p.L39L|GGPS1_ENST00000488594.1_Silent_p.L39L|GGPS1_ENST00000476121.1_Silent_p.L39L|GGPS1_ENST00000391855.2_5'UTR O95749 GGPPS_HUMAN geranylgeranyl diphosphate synthase 1 39 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|soluble fraction dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 8 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;1.39e-05) TAATCATTGGCTGAAAGTTCC 0.328000 21 68 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10315826 10315826 + Missense_Mutation SNP G G A rs150633264 TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr17:10315826G>A ENST00000403437.2 - 14 1371 c.1277C>T c.(1276-1278)gCg>gTg p.A426V CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 426 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 AGCACCCACCGCATTGTACAC 0.498000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 11 290 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 67 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175907 112175907 + Nonsense_Mutation SNP C C G TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr5:112175907C>G ENST00000457016.1 + 16 4996 c.4616C>G c.(4615-4617)tCa>tGa p.S1539* CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.S1539*|APC_ENST00000508376.2_Nonsense_Mutation_p.S1539* P25054 APC_HUMAN adenomatous polyposis coli 1539 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1540fs*4(1)|p.K1192fs*3(1)|p.?(1)|p.S1539*(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) GAAACAGAATCAGAGCAGCCT 0.368000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 35 16 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201822858 201822858 + Splice_Site SNP T T C TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr2:201822858T>C ENST00000234296.2 - 3 240 c.e3-2 ORC2_ENST00000467605.1_Intron NM_006190.4 NP_006181.1 Q13416 ORC2_HUMAN origin recognition complex, subunit 2 cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 GTTGCCAACCTAAACAAAAAC 0.313000 3 82 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128844792 128844792 + Missense_Mutation SNP T T C TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr11:128844792T>C ENST00000310343.9 - 20 2257 c.2258A>G c.(2257-2259)aAt>aGt p.N753S ARHGAP32_ENST00000392657.3_Missense_Mutation_p.N404S|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.N404S|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.N679S NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 753 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 ATGAGGCAGATTATCATAGGA 0.498000 22 39 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183513586 183513589 + Frame_Shift_Del DEL CCCC CCCC - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr1:183513586_183513589delCCCC ENST00000367537.3 + 16 2085_2088 c.1890_1893delCCCC c.(1888-1893)atfs p.IP630fs SMG7_ENST00000507469.1_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.IP559fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.IP605fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.IP601fs|SMG7_ENST00000347615.2_Frame_Shift_Del_p.IP647fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 647 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CCCAGTTCATCCCCATTCATCACC 0.426 32 80 --- --- --- --- LRRN1 57633 broad.mit.edu 37 3 3887021 3887021 + Frame_Shift_Del DEL A A - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr3:3887021delA ENST00000319331.3 + 2 1457 c.696delA c.(694-696)ggfs p.G232fs SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 232 integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) ATATTCCTGGAAATGCTTTGG 0.408 9 229 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 10 162 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169188601 169188601 + Frame_Shift_Del DEL A A - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr5:169188601delA ENST00000256935.8 + 25 2606 c.2526delA c.(2524-2526)atfs p.I842fs DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Frame_Shift_Del_p.I334fs NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 842 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGAATGAGATAGTCCAGAGCA 0.488 65 111 --- --- --- --- PXN 5829 broad.mit.edu 37 12 120661542 120661542 + Frame_Shift_Del DEL C C - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr12:120661542delC ENST00000536957.1 - 3 804 c.329delG c.(328-330)gtfs p.G110fs PXN_ENST00000424649.2_Frame_Shift_Del_p.G112fs|PXN_ENST00000267257.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000228307.7_Frame_Shift_Del_p.G112fs|PXN_ENST00000538144.1_5'UTR P49023 PAXI_HUMAN paxillin 112 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCTCCTCACCCACTCGGGA 0.612 2 4 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 3 4 --- --- --- --- PSMB6 5694 broad.mit.edu 37 17 4699584 4699584 + Frame_Shift_Del DEL C C - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr17:4699584delC ENST00000270586.3 + 1 146 c.95delC c.(94-96)tcfs p.S32fs NM_001270481.1|NM_002798.2 NP_001257410.1|NP_002789.1 P28072 PSB6_HUMAN proteasome (prosome, macropain) subunit, beta type, 6 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 CGAGAAGTTTCCACTGGGGTG 0.607 2 4 --- --- --- --- BCAM 4059 broad.mit.edu 37 19 45324017 45324017 + Frame_Shift_Del DEL G G - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr19:45324017delG ENST00000270233.6 + 14 1841 c.1819delG c.(1819-1821)gcfs p.G607fs NM_001013257.2|NM_005581.4 NP_001013275.1|NP_005572.2 P50895 BCAM_HUMAN basal cell adhesion molecule (Lutheran blood group) 607 cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) AGAGCAGACCGGCCTTCTCAT 0.726 2 4 --- --- --- --- SCARF2 0 broad.mit.edu 37 22 20779786 20779786 + Frame_Shift_Del DEL G G - TCGA-EJ-7325-01B-11D-A32B-08 TCGA-EJ-7325-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57c67ced-cab5-4e66-a6b8-04c020bd4a3e 16fc1662-ec00-4bfc-abf6-ce18b7ae0f4d g.chr22:20779786delG ENST00000405555.3 - 11 2547 c.2477delC c.(2476-2478)ggfs p.A827fs SCARF2_ENST00000266214.5_Frame_Shift_Del_p.A832fs NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 828 Pro-rich. cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GTCGGTCGCCGCCTTCTCAGG 0.746 2 4 --- --- --- ---