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 PRICKLE1 144165 broad.mit.edu 37 12 42860031 42860031 + Missense_Mutation SNP T T C TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr12:42860031T>C uc010skv.2 - 5 1027 c.740A>G c.(739-741)tAt>tGt p.Y247C PRICKLE1_uc001rnl.3_Missense_Mutation_p.Y247C|PRICKLE1_uc010skw.2_Missense_Mutation_p.Y247C|PRICKLE1_uc001rnm.3_Missense_Mutation_p.Y247C NM_001144881 NP_694571 Q96MT3 PRIC1_HUMAN Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA. 247 LIM zinc-binding 2. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GTACTCCGCATAGAGAGACTC 0.522000 12 57 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137504371 137504371 + Missense_Mutation SNP G G A TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr5:137504371G>A uc003lcg.3 - 8 704 c.649C>T c.(649-651)Ccc>Tcc p.P217S BRD8_uc003lcf.1_Intron|BRD8_uc011cyl.2_5'Flank|BRD8_uc021yea.1_Missense_Mutation_p.P73S|BRD8_uc003lci.3_Missense_Mutation_p.P217S|BRD8_uc011cym.2_Intron|BRD8_uc011cyn.1_Intron|BRD8_uc010jes.1_Intron NM_006696 NP_006687 Q9H0E9 BRD8_HUMAN Homo sapiens bromodomain containing 8 (BRD8), transcript variant 1, mRNA. 177 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter NuA4 histone acetyltransferase complex|mitochondrion sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAAGTCCCGGGGGTTACCTAA 0.483000 7 50 0 0 1 0 0 TMEM234 56063 broad.mit.edu 37 1 32682537 32682537 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr1:32682537C>T uc001buq.4 - 4 343 c.340G>A c.(340-342)Ggc>Agc p.G114S TMEM234_uc001buo.3_Non-coding_Transcript|TMEM234_uc001bup.3_Non-coding_Transcript|TMEM234_uc009vub.1_3'UTR|TMEM234_uc010oha.2_Non-coding_Transcript NM_019118 NP_061991 Q8WY98 TM234_HUMAN Homo sapiens transmembrane protein 234 (TMEM234), mRNA. 114 integral to membrane kidney(2)|lung(3) 5 AGCACCATGCCAGCAACTGCT 0.552000 3 49 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233750036 233750036 + Missense_Mutation SNP T T A TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr1:233750036T>A uc010pxo.1 + 0 287 c.119T>A c.(118-120)gTc>gAc p.V40D NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 40 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GGCGCAGTGGTCTTCTCCTCG 0.657000 6 31 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 14 95 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53421761 53421761 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr13:53421761C>T uc001vhi.3 - 0 1015 c.811G>A c.(811-813)Gcc>Acc p.A271T PCDH8_uc001vhj.3_Missense_Mutation_p.A271T NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 271 Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TCGGGGTCGGCTGCGTCCAGG 0.716000 2 4 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121766258 121766258 + Missense_Mutation SNP C C T TCGA-DJ-A13O-01A-11D-A10S-08 TCGA-DJ-A13O-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx a21bf2df-ffb9-416b-a024-1d2c2dcd8dc5 4d57a896-48c1-4083-b177-faad58d5dfaf g.chr12:121766258C>T uc001uag.3 - 9 1287 c.1165G>A c.(1165-1167)Gct>Act p.A389T ANAPC5_uc010szu.2_Missense_Mutation_p.A55T|ANAPC5_uc001uae.3_5'UTR|ANAPC5_uc010szv.2_5'UTR|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.A277T NM_016237 NP_057321 Q9UJX4 APC5_HUMAN Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA. 389 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CCAGCAAAAGCTCTCTGTTGA 0.488000 8 60 0 0 1 0 0