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 APC 324 broad.mit.edu 37 5 112116592 112116592 + Nonsense_Mutation SNP C C T TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr5:112116592C>T uc003kpz.4 + 6 830 c.637C>T c.(637-639)Cga>Tga p.R213* APC_uc011cvt.2_Nonsense_Mutation_p.R223*|APC_uc003kpy.4_Nonsense_Mutation_p.R213*|APC_uc010jbz.3_5'UTR NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 213 Leu-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 APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|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.R213*(43)|p.K212*(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) TATGGAAAAACGAGCACAGGT 0.348000 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) 16 1 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128470999 128470999 + Missense_Mutation SNP C C G TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr7:128470999C>G uc003vnz.4 + 0 517 c.308C>G c.(307-309)gCc>gGc p.A103G FLNC_uc003voa.4_Missense_Mutation_p.A103G NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 103 Actin-binding.|CH 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GTGTCCGTGGCCCTCGAGTTC 0.652000 16 25 0 0 1 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45457267 45457267 + RNA SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr12:45457267T>C uc001rol.3 - 0 c.1928A>G Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CACTTGAGCATTGAAGAAGCA 0.463000 21 23 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34326989 34326989 + Missense_Mutation SNP G G A TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr18:34326989G>A uc021uiv.1 + 23 4220 c.4123G>A c.(4123-4125)Gca>Aca p.A1375T FHOD3_uc002kzs.1_Missense_Mutation_p.A1200T|FHOD3_uc002kzt.1_Missense_Mutation_p.A1183T|FHOD3_uc010dmz.1_Missense_Mutation_p.A915T|FHOD3_uc010dnb.1_Missense_Mutation_p.A179T NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 1183 DAD. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CAAGGCAATTGCAAAACATGA 0.373000 33 28 0 0 1 0 0 OR5H14 403273 broad.mit.edu 37 3 97868995 97868995 + Missense_Mutation SNP G G A rs148799830 TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:97868995G>A uc003dsg.1 + 0 766 c.766G>A c.(766-768)Gcc>Acc p.A256T NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA. 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGGGCCCCTCGCCTTCATGTA 0.413000 20 34 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20506939 20506939 + Missense_Mutation SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr20:20506939T>C uc002wrz.3 - 27 3793 c.3650A>G c.(3649-3651)aAg>aGg p.K1217R RALGAPA2_uc002wry.3_Missense_Mutation_p.K832R|RALGAPA2_uc010zsg.2_Missense_Mutation_p.K665R|RALGAPA2_uc002wsa.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA. 1217 activation of Ral GTPase activity cytosol|nucleus Ral GTPase activator activity|protein heterodimerization activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CATCTGAAGCTTCTCCCAGTA 0.408000 3 15 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98073450 98073450 + Silent SNP T T C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:98073450T>C uc011bgv.2 + 0 753 c.753T>C c.(751-753)ttT>ttC p.F251F NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 TCTCAATATTTTACATTTGTC 0.363000 67 62 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389482 129389482 + Missense_Mutation SNP G G C TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr3:129389482G>C uc021xdy.1 - 3 1636 c.1202C>G c.(1201-1203)gCg>gGg p.A401G TMCC1_uc003emy.4_Missense_Mutation_p.A77G|TMCC1_uc011blc.2_Missense_Mutation_p.A222G|TMCC1_uc010htg.3_Missense_Mutation_p.A287G NM_001017395 NP_001121696 O94876 TMCC1_HUMAN Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA. 401 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 AGCCTTCCCCGCATCATCCAC 0.483000 35 48 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857420 90857421 + Frame_Shift_Del DEL AG AG - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr4:90857420_90857421delAG uc003hst.3 + 5 2660_2661 c.2589_2590delAG c.(2587-2592)caagacfs p.Q863fs MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Frame_Shift_Del_p.Q605fs NM_007351 NP_031377 Q13201 MMRN1_HUMAN Homo sapiens multimerin 1 (MMRN1), mRNA. 863 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.L862L(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) CTCGGTTGCAAGACATTGAGTC 0.366 8 12 --- --- --- --- ADAMTS16 170690 broad.mit.edu 37 5 5140871 5140871 + Frame_Shift_Del DEL A A - TCGA-EL-A3CX-01A-11D-A19J-08 TCGA-EL-A3CX-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0a33fd2-085c-488b-b843-2ca97c85a5cb 180bbc51-bde0-4489-ad9d-ec66b632839b g.chr5:5140871delA uc003jdl.3 + 1 305 c.167delA c.(166-168)gaafs p.E56fs ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.E56fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.E56fs NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 56 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGCTGGATGGAAAAGGGCGGT 0.652 2 4 --- --- --- ---