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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 6 90 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 5 110 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195599219 195599219 + Missense_Mutation SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:195599219T>C ENST00000333602.6 - 10 1996 c.1379A>G c.(1378-1380)aAc>aGc p.N460S TNK2_ENST00000316664.3_Missense_Mutation_p.N460S|TNK2_ENST00000381916.2_Missense_Mutation_p.N523S|TNK2_ENST00000428187.1_Missense_Mutation_p.N492S|TNK2_ENST00000392400.1_Missense_Mutation_p.N460S NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 460 CRIB. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GATGAAGCTGTTCTGCAGGGG 0.657000 3 26 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195692 18195692 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr11:18195692G>A ENST00000314254.3 + 1 1309 c.889G>A c.(889-891)Gac>Aac p.D297N RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 297 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 GGCTCTGCAGGACAAGCCTGA 0.552000 4 84 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41354569 41354569 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr19:41354569C>T ENST00000301141.5 - 3 463 c.443G>A c.(442-444)cGc>cAc p.R148H CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 148 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CTCCTGGATGCGCTCCTCGAT 0.692000 3 40 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54853144 54853144 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr2:54853144G>A ENST00000333896.5 + 11 1763 c.1378G>A c.(1378-1380)Gca>Aca p.A460T SPTBN1_ENST00000356805.4_Missense_Mutation_p.A473T NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 473 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGACATTGCCGCATACGAGGA 0.537000 3 58 0 0 1 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705336 189705336 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:189705336C>T ENST00000319332.5 - 5 1275 c.1078G>A c.(1078-1080)Gca>Aca p.A360T LEPREL1_ENST00000427335.2_Missense_Mutation_p.A179T NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 360 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCAATGGATGCCGGGTCAATG 0.428000 3 34 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 50 1.024e-07 1.09714e-07 1 1 0 TCHHL1 126637 broad.mit.edu 37 1 152058827 152058827 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr1:152058827G>A ENST00000368806.1 - 3 1395 c.1331C>T c.(1330-1332)aCa>aTa p.T444I NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 444 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TAGATATTGTGTCTCAGAACC 0.453000 10 113 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932274 23932274 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr15:23932274C>T ENST00000331837.4 - 1 176 c.91G>A c.(91-93)Ggg>Agg p.G31R NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 31 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GGAGGAACCCCCTCCGAAACC 0.687000 Prader-Willi syndrome 11 21 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112178930 112178930 + Missense_Mutation SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr5:112178930T>C ENST00000457016.1 + 16 8019 c.7639T>C c.(7639-7641)Tgg>Cgg p.W2547R CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.W2547R|APC_ENST00000257430.4_Missense_Mutation_p.W2547R P25054 APC_HUMAN adenomatous polyposis coli 2547 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.?(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) GTCAGGAACCTGGAAACGTGA 0.428000 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) 4 71 0 0 1 0 0 SLC35G2 80723 broad.mit.edu 37 3 136573458 136573458 + Silent SNP T T C TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:136573458T>C ENST00000446465.2 + 2 784 c.156T>C c.(154-156)aaT>aaC p.N52N RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.N52N NM_025246.2 NP_079522.2 Q8TBE7 TMM22_HUMAN solute carrier family 35, member G2 52 Golgi apparatus|integral to membrane TGGAGGAAAATCCAAAGAAAG 0.408000 46 91 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44221299 44221299 + Silent SNP C C T rs143048794 byFrequency TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr6:44221299C>T ENST00000371554.1 + 12 2353 c.2139C>T c.(2137-2139)ggC>ggT p.G713G HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 713 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.G713G(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTCTCGAGGGCGATGAGGATG 0.498000 OREG0017471 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 35 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 38 36 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53516319 53516319 + Missense_Mutation SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr1:53516319G>A ENST00000371514.3 + 16 1755 c.1587G>A c.(1585-1587)atG>atA p.M529I SCP2_ENST00000435345.2_Missense_Mutation_p.M125I|SCP2_ENST00000430330.2_Missense_Mutation_p.M122I|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000528311.1_Missense_Mutation_p.M448I|SCP2_ENST00000407246.2_Missense_Mutation_p.M505I|SCP2_ENST00000371509.4_Missense_Mutation_p.M485I|SCP2_ENST00000488965.1_3'UTR NM_002979.4 NP_002970.2 P22307 NLTP_HUMAN sterol carrier protein 2 529 SCP2. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 CTGGCAACATGGGTCTCGCTA 0.373000 5 41 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 52 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17085364 17085364 + RNA SNP G G A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr1:17085364G>A ENST00000455405.2 - 0 3 CAGGGCCCATGGCTATCCCCA 0.597000 3 22 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178919203 178919203 + Silent SNP C C A TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr3:178919203C>A ENST00000263967.3 + 4 845 c.688C>A c.(688-690)Cga>Aga p.R230R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 230 PI3K-RBD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAAAAAACTCGAAGTATGTT 0.343000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 17 34 1.99824e-07 2.06714e-07 1 1 0 KRT6C 286887 broad.mit.edu 37 12 52863523 52863523 + Missense_Mutation SNP A A G TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr12:52863523A>G ENST00000252250.6 - 7 1402 c.1355T>C c.(1354-1356)aTg>aCg p.M452T NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 452 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CTTGACATTCATCAGCTCCTG 0.597000 18 62 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118372559 118372559 + Silent SNP G G A rs145452548 by1000genomes TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr11:118372559G>A ENST00000534358.1 + 26 6515 c.6492G>A c.(6490-6492)ccG>ccA p.P2164P KMT2A_ENST00000389506.5_Silent_p.P2161P|KMT2A_ENST00000354520.4_Silent_p.P2123P NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GCTGTCGACCGTTGCCTTCTG 0.443000 4 86 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 52 0 0 1 0 0 CST1 1469 broad.mit.edu 37 20 23728528 23728528 + Silent SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr20:23728528C>T ENST00000304749.2 - 3 421 c.351G>A c.(349-351)ttG>ttA p.L117L CST1_ENST00000398402.1_Silent_p.L117L NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 117 extracellular region cysteine-type endopeptidase inhibitor activity p.L117L(1) kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) CGAAAGAGCACAACTGTTTCT 0.527000 3 25 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149523 41149523 + Missense_Mutation SNP C C T TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr5:41149523C>T ENST00000263413.3 - 17 2707 c.2443G>A c.(2443-2445)Gct>Act p.A815T C6_ENST00000337836.5_Missense_Mutation_p.A815T NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 815 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) AACTTACAAGCGGGTGAAGTA 0.418000 5 143 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 832030 832030 + Frame_Shift_Del DEL G G - TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr16:832030delG ENST00000293892.3 - 2 92 c.93delC c.(91-93)ccfs p.P31fs MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GGAAGGTGCTGGGGCCAAGGG 0.662 2 4 --- --- --- --- USP14 9097 broad.mit.edu 37 18 158712 158712 + Frame_Shift_Del DEL C C - TCGA-WB-A80O-01A-11D-A35I-08 TCGA-WB-A80O-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2e09d3fb-45c2-42a5-a7e7-5f4dd76f7a92 8170c6e0-56f4-4b2d-97c0-fce7f75ec117 g.chr18:158712delC ENST00000261601.6 + 1 105 c.14delC c.(13-15)tcfs p.S5fs USP14_ENST00000582707.1_Frame_Shift_Del_p.S5fs|USP14_ENST00000400266.3_Frame_Shift_Del_p.S5fs|USP14_ENST00000383589.2_Frame_Shift_Del_p.S5fs NM_005151.3 NP_005142.1 P54578 UBP14_HUMAN ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) 5 Ubiquitin-like. regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2) 11 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) CCGCTCTACTCCGGTGAGCCC 0.766 2 4 --- --- --- ---