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 AGPAT2 10555 broad.mit.edu 37 9 139581702 139581702 + Silent SNP C C A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr9:139581702C>A ENST00000371696.2 - 1 173 c.108G>T c.(106-108)ctG>ctT p.L36L AGPAT2_ENST00000538402.1_Silent_p.L36L|AGPAT2_ENST00000371694.3_Silent_p.L36L NM_006412.3 NP_006403.2 O15120 PLCB_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 2 36 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) CCGTGAAGCACAGCGCGCAGT 0.726000 7 35 0.000274275 0.000281894 1 1 0 EIF3E 3646 broad.mit.edu 37 8 109215251 109215251 + Missense_Mutation SNP C C T TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr8:109215251C>T ENST00000220849.5 - 12 1322 c.1260G>A c.(1258-1260)atG>atA p.M420I EIF3E_ENST00000519030.1_Missense_Mutation_p.M327I NM_001568.2 NP_001559.1 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, subunit E 420 Sufficient for interaction with MCM7. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding EIF3E/RSPO2(6) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) TCTCAATATTCATGGCCAACA 0.398000 13 20 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50097869 50097869 + Missense_Mutation SNP A A G TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr19:50097869A>G ENST00000418929.2 + 3 370 c.358A>G c.(358-360)Aca>Gca p.T120A NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 534 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) TTCCTGGCAAACAGGTAAGCC 0.667000 16 36 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112103497 112103497 + Missense_Mutation SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr12:112103497G>A ENST00000419234.4 - 6 1035 c.842C>T c.(841-843)aCg>aTg p.T281M BRAP_ENST00000539060.1_Missense_Mutation_p.T102M|BRAP_ENST00000327551.6_Missense_Mutation_p.T251M NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 281 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 GTTACATAACGTTGTGAGGAT 0.582000 3 52 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46826302 46826302 + Missense_Mutation SNP T T C TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr6:46826302T>C ENST00000283296.7 - 17 3626 c.3338A>G c.(3337-3339)tAt>tGt p.Y1113C GPR116_ENST00000456426.2_Missense_Mutation_p.Y971C|GPR116_ENST00000265417.7_Missense_Mutation_p.Y1113C|GPR116_ENST00000362015.4_Missense_Mutation_p.Y1113C|GPR116_ENST00000545669.1_Missense_Mutation_p.Y542C NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1113 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) AACCAGGCGATAGAACAGCAT 0.517000 3 35 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5237086 5237086 + Silent SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr5:5237086G>A ENST00000274181.7 + 14 2166 c.2028G>A c.(2026-2028)caG>caA p.Q676Q ADAMTS16_ENST00000513709.1_Intron NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 676 Cys-rich. 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 TTTAAGATCAGGACTTATGCA 0.353000 7 31 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2098652 2098652 + Silent SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr16:2098652G>A ENST00000219476.3 + 2 666 c.36G>A c.(34-36)aaG>aaA p.K12K TSC2_ENST00000568454.1_Silent_p.K23K|TSC2_ENST00000350773.4_Silent_p.K12K|TSC2_ENST00000439673.2_Silent_p.K12K|TSC2_ENST00000353929.4_Silent_p.K12K|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Silent_p.K12K NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 12 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CAGGCTTGAAGGAGAAGTTTA 0.502000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 3 43 0 0 1 0 0 MSL3P1 0 broad.mit.edu 37 2 234774852 234774852 + RNA SNP G G C TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr2:234774852G>C ENST00000438684.1 - 0 1262 NR_024322.1 CTGGGAAGAAGTCATCGTGGT 0.433000 19 32 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135763731 135763731 + Silent SNP C C T TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr9:135763731C>T ENST00000372136.3 + 4 849 c.402C>T c.(400-402)taC>taT p.Y134Y C9orf9_ENST00000350499.6_Silent_p.Y134Y|C9orf9_ENST00000356311.5_Silent_p.Y134Y Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 134 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) GGAACCACTACGGCGGCGTGG 0.607000 18 48 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 4 99 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93088558 93088558 + Missense_Mutation SNP G G C TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr11:93088558G>C ENST00000298050.3 + 3 151 c.51G>C c.(49-51)gaG>gaC p.E17D CCDC67_ENST00000527307.1_Missense_Mutation_p.E17D|CCDC67_ENST00000530053.1_3'UTR NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 17 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GTGAGGCTGAGCTTCAGGAAT 0.378000 8 52 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4935111 4935111 + Missense_Mutation SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr16:4935111G>A ENST00000345988.2 - 22 3634 c.3545C>T c.(3544-3546)cCc>cTc p.P1182L PPL_ENST00000590782.2_Missense_Mutation_p.P1180L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1182 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TTCCGCCTTGGGGTCTGGCCG 0.622000 31 64 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50827018 50827018 + Missense_Mutation SNP G G C TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr19:50827018G>C ENST00000376959.2 - 2 1355 c.1192C>G c.(1192-1194)Ctc>Gtc p.L398V KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.L398V|KCNC3_ENST00000391818.2_Intron Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 398 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) AGGCCCGAGAGGCCCACCTCG 0.597000 5 46 0 0 1 0 0 JMJD4 65094 broad.mit.edu 37 1 227922874 227922874 + Missense_Mutation SNP G G C TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr1:227922874G>C ENST00000366758.3 - 1 238 c.239C>G c.(238-240)tCg>tGg p.S80W JMJD4_ENST00000438896.2_Missense_Mutation_p.S80W|SNAP47_ENST00000366759.4_5'UTR|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'UTR NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 80 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) GCCCGGCTCCGAGACGAAGGC 0.711000 7 5 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296674 39296674 + Silent SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr17:39296674G>A ENST00000345847.4 - 1 65 c.66C>T c.(64-66)cgC>cgT p.R22R NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 22 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 AGCAGCTGGGGCGGCAGCAGG 0.632000 6 76 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296626 39296626 + Silent SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr17:39296626G>A ENST00000345847.4 - 1 113 c.114C>T c.(112-114)ccC>ccT p.P38P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 38 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CACAGCAGCTGGGGCGGCAGC 0.667000 5 102 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e 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 6 21 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058248 11058248 + RNA SNP G G A rs8130203 by1000genomes TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr21:11058248G>A ENST00000470054.1 - 0 399 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAGCACAAGGATAATGATAC 0.433000 5 59 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31305327 31305327 + Missense_Mutation SNP C C A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr5:31305327C>A ENST00000265071.2 + 7 1311 c.1046C>A c.(1045-1047)gCc>gAc p.A349D CDH6_ENST00000514738.1_Missense_Mutation_p.A294D NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 349 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AAAGTGGAAGCCTCCAATCCT 0.463000 18 27 4.75885e-15 5.17875e-15 1 1 0 FBXO10 26267 broad.mit.edu 37 9 37541400 37541400 + Silent SNP G G A TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr9:37541400G>A ENST00000432825.2 - 2 414 c.366C>T c.(364-366)ggC>ggT p.G122G FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 122 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CCAAGGCACTGCCCAGGCTGT 0.552000 5 109 0 0 1 0 0 ZC3H15 55854 broad.mit.edu 37 2 187351112 187351113 + Translation_Start_Site INS - - C TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr2:187351112_187351113insC ENST00000337859.6 + 0 230_231 ZC3H15_ENST00000544130.1_5'UTR NM_018471.2 NP_060941.2 Q8WU90 ZC3HF_HUMAN zinc finger CCCH-type containing 15 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TCTCCGCAATGCCCCCCAAGAA 0.609 2 4 --- --- --- --- PODXL 5420 broad.mit.edu 37 7 131241030 131241035 + In_Frame_Del DEL GGCGAC GGCGAC - rs11277659 TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr7:131241030_131241035delGGCGAC ENST00000541194.1 - 1 341_346 c.84_89delGTCGCC c.(82-90)ccc>cc p.PSP28del PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 28 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle p.P30_S31delPS(2) NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ATTCTGGGAGggcgacggcgacggcg 0.748 3 3 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 2 4 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-FY-A4B3-01A-11D-A23U-08 TCGA-FY-A4B3-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbe5a458-6112-46da-bc88-5bf6467f73bb f27473dd-f2e2-4039-a2f4-e60e8f59a93e g.chr18:112402_112405delAACC ENST00000576266.1 + 0 36_39 CCCTGCCCCGAACCACCCGACCCC 0.711 4 7 --- --- --- ---