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 SLC40A1 30061 broad.mit.edu 37 2 190439928 190439928 + Missense_Mutation SNP G G C rs28939076 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr2:190439928G>C ENST00000261024.2 - 3 656 c.230C>G c.(229-231)gCc>gGc p.A77G SLC40A1_ENST00000418714.1_5'UTR NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 77 A -> D (in HFE4). anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) ACCGATGATGGCTCCCAGGAC 0.493000 154 304 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119916995 119916995 + Silent SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr12:119916995C>T ENST00000327554.2 + 4 903 c.438C>T c.(436-438)acC>acT p.T146T CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 146 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CCTCGCTAACCGAGGCTCACG 0.478000 32 43 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17272075 17272075 + Missense_Mutation SNP G G A rs2781608 by1000genomes TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr1:17272075G>A ENST00000375541.5 + 15 2179 c.2110G>A c.(2110-2112)Gcc>Acc p.A704T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 704 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A704T(11) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GGCCGAGAAGGCCGAGGTGGC 0.657000 5 42 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141796143 141796143 + Silent SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr7:141796143C>T ENST00000475668.2 + 65 7674 c.7620C>T c.(7618-7620)gaC>gaT p.D2540D MGAM_ENST00000549489.2_Silent_p.D1644D O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1644 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTGTGTCAGACCAGGTGACAT 0.572000 10 65 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185119602 185119602 + Missense_Mutation SNP C C A TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr1:185119602C>A ENST00000367506.5 - 3 637 c.369G>T c.(367-369)ttG>ttT p.L123F TRMT1L_ENST00000367504.3_5'UTR NM_001202423.1|NM_030934.4 NP_001189352.1|NP_112196.3 Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 123 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 CCTTAGGGCACAATGGACAAG 0.353000 6 24 0.248553 0.25447 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77763175 77763175 + Missense_Mutation SNP T T C TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr13:77763175T>C ENST00000407578.2 - 30 4428 c.4162A>G c.(4162-4164)Acc>Gcc p.T1388A MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.T1350A|MYCBP2_ENST00000357337.6_Missense_Mutation_p.T1350A NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCATCACTGGTTGGAAGTCTA 0.343000 29 42 0 0 1 0 0 LRPAP1 4043 broad.mit.edu 37 4 3516526 3516526 + Missense_Mutation SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr4:3516526C>T ENST00000500728.2 - 7 1110 c.964G>A c.(964-966)Gag>Aag p.E322K LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 322 LDL receptor binding (Potential). negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) GCGTGCTTCTCGCGGCTGCGG 0.662000 42 87 0 0 1 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45971249 45971249 + Silent SNP G G A TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr21:45971249G>A ENST00000391621.1 - 1 139 c.93C>T c.(91-93)tgC>tgT p.C31C TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron NM_198693.2 NP_941966.1 P60368 KR102_HUMAN keratin associated protein 10-2 31 22 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|lung(4)|skin(1) 6 TGGGGGTGCCGCAGGGGAGCT 0.687000 7 147 0 0 1 0 0 WASH2P 0 broad.mit.edu 37 2 114355097 114355097 + RNA SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr2:114355097C>T ENST00000538033.2 + 0 2036 TCGACCCCTCCGGTGGCCGGG 0.647000 7 15 0 0 1 0 0 PCBP1 5093 broad.mit.edu 37 2 70315174 70315174 + Missense_Mutation SNP T T A TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr2:70315174T>A ENST00000303577.5 + 1 590 c.299T>A c.(298-300)cTg>cAg p.L100Q PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 100 KH 2. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding p.L100P(1)|p.L100Q(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 CCGGTCACCCTGAGGCTGGTG 0.602000 12 276 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883923 48883923 + Missense_Mutation SNP A A T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr8:48883923A>T ENST00000262105.2 + 12 2032 c.1823A>T c.(1822-1824)aAt>aTt p.N608I MCM4_ENST00000523944.1_Missense_Mutation_p.N608I NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 608 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGTCAGCTCAATGCGCGCACC 0.498000 18 69 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 7 106 0 0 1 0 0 ZNF630 57232 broad.mit.edu 37 X 47918136 47918136 + Silent SNP A A G TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chrX:47918136A>G ENST00000276054.4 - 5 2257 c.1323T>C c.(1321-1323)caT>caC p.H441H ZNF630_ENST00000409324.3_Silent_p.H565H|ZNF630_ENST00000442455.3_Silent_p.H551H|ZNF630-AS1_ENST00000436124.1_RNA Q2M218 ZN630_HUMAN zinc finger protein 630 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TCTCTCCAGTATGACCTCTCT 0.453000 4 15 0 0 1 0 0 GRK1 6011 broad.mit.edu 37 13 114324127 114324127 + Silent SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr13:114324127C>T ENST00000335678.6 + 2 1057 c.825C>T c.(823-825)atC>atT p.I275I NM_002929.2 NP_002920.1 Q15835 RK_HUMAN G protein-coupled receptor kinase 1 275 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity ovary(2) 2 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.234) GAGGTGACATCAGGTAAGGGC 0.597000 7 139 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47333995 47333995 + Missense_Mutation SNP A A C TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr21:47333995A>C ENST00000400304.1 + 7 635 c.635A>C c.(634-636)cAc>cCc p.H212P PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000468429.1_Intron|PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Intron P57721 PCBP3_HUMAN poly(rC) binding protein 3 225 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTACTGCAGCACCCGCCGCTG 0.627000 6 21 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 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 29 48 0 0 1 0 0 FPGT-TNNI3K 0 broad.mit.edu 37 1 74715180 74715180 + Missense_Mutation SNP C C T rs79045456 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr1:74715180C>T ENST00000370895.1 + 5 525 c.490C>T c.(490-492)Cgc>Tgc p.R164C FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R164C|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164C|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63C|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R164C Q59H18 TNI3K_HUMAN 63 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding TTTAAATTACCGCACTGAAAA 0.333000 7 50 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 4 31 0 0 1 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45721473 45721473 + Missense_Mutation SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr19:45721473C>T ENST00000413988.1 - 7 685 c.645G>A c.(643-645)atG>atA p.M215I EXOC3L2_ENST00000252482.3_Missense_Mutation_p.M215I NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 215 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) GCTCGTCCTGCATTCTGCGCA 0.667000 5 8 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043241 20043241 + Missense_Mutation SNP C C T TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr16:20043241C>T ENST00000570682.1 - 2 1178 c.878G>A c.(877-879)cGc>cAc p.R293H NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 293 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGCCATGGTGCGGAACCGCTT 0.512000 75 141 0 0 1 0 0 OR2T7 81458 broad.mit.edu 37 1 248604559 248604560 + Frame_Shift_Ins INS - - TC rs58223479 by1000genomes TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr1:248604559_248604560insTC ENST00000460972.3 + 1 52_53 c.52_53insTC c.(52-54)cttfs p.L18fs olfactory receptor, family 2, subfamily T, member 7 TTCCCCTGGCTTCTTTGCCCTC 0.515 2 4 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 7 513 --- --- --- --- IGHV3-38 0 broad.mit.edu 37 14 106866725 106866726 + RNA DEL CC CC - TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr14:106866725_106866726delCC ENST00000390618.2 - 0 124 CACAGAGACACCAAGGTCAGAA 0.520 8 493 --- --- --- --- CTD-2245F17.3 0 broad.mit.edu 37 19 53703995 53703995 + RNA DEL T T - rs113703393 TCGA-DJ-A3VB-01A-11D-A23M-08 TCGA-DJ-A3VB-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx db8ed773-385b-403c-84c7-b844e09dc4c1 0332cc08-f29e-466a-a43f-a653c565ab06 g.chr19:53703995delT ENST00000597550.1 + 0 232 TGTTTCCCCCttttttttttt 0.473 3 5 --- --- --- ---