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 CYP4F24P 388514 broad.mit.edu 37 19 15871166 15871166 + RNA SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr19:15871166G>A ENST00000587443.2 - 0 1446 NR_033864.1 AAGCGGAAGCGCAGCAGCGTC 0.667000 5 19 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61645010 61645010 + Silent SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr11:61645010C>T ENST00000540820.1 - 7 930 c.858G>A c.(856-858)gcG>gcA p.A286A FADS3_ENST00000525588.1_Silent_p.A258A|FADS3_ENST00000278829.2_Silent_p.A286A|FADS3_ENST00000527697.1_Silent_p.A162A Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 286 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCAGCATGTACGCCAGATTTT 0.637000 10 42 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4790576 4790576 + Silent SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr16:4790576G>A ENST00000299320.5 + 4 1177 c.699G>A c.(697-699)gcG>gcA p.A233A C16orf71_ENST00000590191.1_Silent_p.A247A|RP11-127I20.7_ENST00000588099.1_RNA NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 233 p.A233A(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 TGAAGGAGGCGCCCTGCCACG 0.637000 5 76 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839076 15839076 + Missense_Mutation SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr19:15839076G>A ENST00000305899.3 + 1 243 c.223G>A c.(223-225)Gtg>Atg p.V75M NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CCTCTACACCGTGGCCATCAT 0.622000 36 99 0 0 1 0 0 NPTN 27020 broad.mit.edu 37 15 73862761 73862761 + Missense_Mutation SNP T T C TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr15:73862761T>C ENST00000351217.6 - 5 1414 c.496A>G c.(496-498)Att>Gtt p.I166V NPTN_ENST00000564551.1_5'UTR|NPTN_ENST00000562924.1_Missense_Mutation_p.I166V|NPTN_ENST00000545878.1_Missense_Mutation_p.I282V|NPTN_ENST00000287226.8_Missense_Mutation_p.I282V|NPTN_ENST00000345330.4_Missense_Mutation_p.I282V|NPTN_ENST00000563691.1_Missense_Mutation_p.I282V|NPTN_ENST00000542234.1_Missense_Mutation_p.I77V NM_001161364.1|NM_017455.3 NP_001154836.1|NP_059429.1 Q9Y639 NPTN_HUMAN neuroplastin 282 Ig-like 2. elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 13 GTATTGACAATGTCCTGCAAA 0.453000 9 32 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423216 48423216 + Missense_Mutation SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr3:48423216G>A ENST00000296438.5 + 9 1198 c.1012G>A c.(1012-1014)Gca>Aca p.A338T FBXW12_ENST00000415155.1_Missense_Mutation_p.A268T|FBXW12_ENST00000436231.1_Missense_Mutation_p.A181T|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.A319T NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 338 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTTCCAGGTGGCAGCTCATCT 0.403000 10 34 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67021837 67021837 + Silent SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr11:67021837C>T ENST00000529006.2 + 20 3701 c.3255C>T c.(3253-3255)ctC>ctT p.L1085L KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Silent_p.L646L|KDM2A_ENST00000308783.5_Silent_p.L543L NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 1085 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CCAATCTACTCACTGCTGTCG 0.557000 19 100 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39739887 39739887 + Silent SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr17:39739887C>T ENST00000167586.6 - 5 1055 c.969G>A c.(967-969)ctG>ctA p.L323L NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 323 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CGCTCTGCACCAGCTCGCTGT 0.587000 26 111 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471294 4471294 + Missense_Mutation SNP C C A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr11:4471294C>A ENST00000325719.4 + 1 770 c.725C>A c.(724-726)aCa>aAa p.T242K NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6) 25 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) GCATTTGGGACATGTGTCTCT 0.507000 41 108 4.40281e-34 4.51019e-34 1 1 0 FAM117A 81558 broad.mit.edu 37 17 47794987 47794987 + Silent SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr17:47794987G>A ENST00000240364.2 - 6 877 c.798C>T c.(796-798)aaC>aaT p.N266N RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 266 haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 AGCTGGCAAGGTTGCCAGGCT 0.632000 17 55 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 42003311 42003311 + Nonsense_Mutation SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr15:42003311C>T ENST00000219905.7 + 8 3029 c.2848C>T c.(2848-2850)Cag>Tag p.Q950* MGA_ENST00000570161.1_Nonsense_Mutation_p.Q950*|MGA_ENST00000566586.1_Nonsense_Mutation_p.Q950*|MGA_ENST00000389936.4_Nonsense_Mutation_p.Q950*|MGA_ENST00000545763.1_Nonsense_Mutation_p.Q950* NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 950 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTCAGAAAATCAGGCGAATAA 0.413000 14 59 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 93511314 93511314 + Missense_Mutation SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr4:93511314G>A ENST00000282020.4 + 2 379 c.121G>A c.(121-123)Gat>Aat p.D41N GRID2_ENST00000510992.1_Missense_Mutation_p.D41N|GRID2_ENST00000505687.1_3'UTR NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 41 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CAAAAAGGATGATGAGGTATT 0.368000 4 39 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228755 39228755 + Missense_Mutation SNP A A G TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr3:39228755A>G ENST00000340369.3 - 2 2410 c.2182T>C c.(2182-2184)Ttc>Ctc p.F728L XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.F728L NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 728 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) AGCCAAGTGAACTTGTGGACA 0.582000 8 51 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4164782 4164782 + Missense_Mutation SNP A A G TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr16:4164782A>G ENST00000294016.3 - 2 1200 c.662T>C c.(661-663)gTg>gCg p.V221A NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 221 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GAAGCTCCCCACTTGAGATAA 0.557000 30 74 0 0 1 0 0 IL10RB 3588 broad.mit.edu 37 21 34652077 34652077 + Missense_Mutation SNP A A T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr21:34652077A>T ENST00000290200.2 + 4 460 c.352A>T c.(352-354)Atg>Ttg p.M118L AP000295.9_ENST00000433395.2_Missense_Mutation_p.E245D NM_000628.4 NP_000619.3 interleukin 10 receptor, beta endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 ACCCCCTGGAATGCAAGTAGA 0.338000 13 41 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50450266 50450266 + Silent SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr7:50450266C>T ENST00000331340.3 + 5 605 c.450C>T c.(448-450)tgC>tgT p.C150C IKZF1_ENST00000438033.1_Silent_p.C63C|IKZF1_ENST00000357364.4_Silent_p.C150C|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Silent_p.C150C|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Silent_p.C150C|IKZF1_ENST00000343574.5_Silent_p.C63C|IKZF1_ENST00000440768.2_Silent_p.C150C NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 150 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(131) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GCAATCAGTGCGGGGCCTCAT 0.592000 """D,T""" BCL6 """ALL, DLBCL""" 11 17 0 0 1 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103593769 103593769 + Silent SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr14:103593769C>T ENST00000560869.1 + 3 1302 c.663C>T c.(661-663)ggC>ggT p.G221G TNFAIP2_ENST00000333007.1_Silent_p.G221G Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 221 angiogenesis|cell differentiation extracellular space NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 11 Melanoma(154;0.155) Epithelial(46;0.191) TGCACTTGGGCCGCACCATGA 0.741000 4 15 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575021 136575021 + Missense_Mutation SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr2:136575021G>A ENST00000264162.2 - 6 1607 c.1597C>T c.(1597-1599)Cgt>Tgt p.R533C NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 533 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCTTCACACGGTCCCCAAAT 0.617000 24 62 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263913 34263913 + Missense_Mutation SNP A A G TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr19:34263913A>G ENST00000262622.3 + 4 1978 c.1220A>G c.(1219-1221)tAc>tGc p.Y407C CHST8_ENST00000434302.1_Missense_Mutation_p.Y407C|CHST8_ENST00000438847.2_Missense_Mutation_p.Y407C NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 407 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) TACGACTTCTACTACATGGAT 0.627000 27 54 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 9 21 0 0 1 0 0 WFDC10A 140832 broad.mit.edu 37 20 44258523 44258523 + Missense_Mutation SNP G G A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr20:44258523G>A ENST00000372643.3 + 1 359 c.71G>A c.(70-72)cGt>cAt p.R24H WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A 24 extracellular region serine-type endopeptidase inhibitor activity large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) GGAGGATACCGTGACAAGAAG 0.582000 OREG0025983 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 19 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 5 63 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54080589 54080589 + Missense_Mutation SNP A A T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr19:54080589A>T ENST00000253144.9 + 7 2108 c.775A>T c.(775-777)Att>Ttt p.I259F ZNF331_ENST00000411977.2_Missense_Mutation_p.I259F|ZNF331_ENST00000511593.2_Missense_Mutation_p.I259F|ZNF331_ENST00000513999.1_Missense_Mutation_p.I259F|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.I259F|ZNF331_ENST00000449416.1_Missense_Mutation_p.I259F|ZNF331_ENST00000511154.1_Missense_Mutation_p.I259F NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GTATAAACTTATTCAGCACAA 0.448000 T ? follicular thyroid adenoma 10 36 0 0 1 0 0 TMEM120A 83862 broad.mit.edu 37 7 75617065 75617065 + RNA SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr7:75617065C>T ENST00000493111.2 - 0 754 TMEM120A_ENST00000338761.4_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane GTGCCGCTCGCCCAGCGCCCG 0.662000 7 37 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93595488 93595488 + Missense_Mutation SNP C C T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr15:93595488C>T ENST00000329082.7 - 3 651 c.380G>A c.(379-381)cGc>cAc p.R127H RGMA_ENST00000538818.1_Missense_Mutation_p.R18H|RGMA_ENST00000556658.1_Missense_Mutation_p.R18H|RGMA_ENST00000542321.2_Missense_Mutation_p.R111H|RGMA_ENST00000557301.1_Missense_Mutation_p.R135H|RGMA_ENST00000556087.1_Missense_Mutation_p.R111H|RGMA_ENST00000543599.1_Missense_Mutation_p.R111H|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Missense_Mutation_p.R111H NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 127 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) TGGGAGCGTGCGCAGGCGTGG 0.652000 23 83 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594507 148594507 + Frame_Shift_Del DEL A A - TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr1:148594507delA ENST00000442702.2 + 21 2947 c.1880delA c.(1879-1881)ccfs p.H627fs NBPF15_ENST00000369187.3_Frame_Shift_Del_p.H627fs NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 627 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) TCATTCCAGCACTACAGAAGT 0.443 9 252 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 5 4 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 3 6 --- --- --- --- SUGT1P3 283507 broad.mit.edu 37 13 41486862 41486862 + RNA DEL A A - TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr13:41486862delA ENST00000304932.4 - 0 214 NR_003365.2 cgtctctactaaaaaaaaaat 0.517 3 5 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299146 23299147 + RNA INS - - A TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr15:23299146_23299147insA ENST00000560464.1 - 0 4510 TACATTCAAAGAAAAAAAAAAA 0.317 2 4 --- --- --- --- RRN3P2 653390 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 5 9 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 7 259 --- --- --- --- DLGAP4 22839 broad.mit.edu 37 20 35060511 35060512 + Frame_Shift_Ins INS - - T TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr20:35060511_35060512insT ENST00000373913.3 + 3 871_872 c.391_392insT c.(391-393)ccgfs p.P131fs DLGAP4_ENST00000373907.2_Frame_Shift_Ins_p.P131fs|DLGAP4_ENST00000401952.2_Frame_Shift_Ins_p.P131fs|DLGAP4_ENST00000339266.5_Frame_Shift_Ins_p.P131fs Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 131 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGAGGCCAAGGCCCGTGGTGAG 0.649 30 110 --- --- --- --- CBR3-AS1 100506428 broad.mit.edu 37 21 37518922 37518922 + RNA DEL T T - TCGA-91-A4BD-01A-11D-A24D-08 TCGA-91-A4BD-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7bff9689-fa15-47fc-9e30-9453355ca0a9 b4b32ea8-e727-4f29-936f-9ce180d4fa18 g.chr21:37518922delT ENST00000413862.1 - 0 79 CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000427491.1_RNA NR_038892.1 agtctcgctcttgttgcccag 0.478 3 4 --- --- --- ---