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 ANKRD30BP2 0 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 3 29 0 0 1 0 0 ST8SIA6 338596 broad.mit.edu 37 10 17373483 17373483 + Missense_Mutation SNP C C T TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr10:17373483C>T ENST00000377602.4 - 5 520 c.446G>A c.(445-447)gGg>gAg p.G149E NM_001004470.1 NP_001004470.1 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 149 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1) 37 CATATTAGTCCCAACTGGAGT 0.388000 3 25 0 0 1 0 0 KIT 3815 broad.mit.edu 37 4 55573316 55573316 + Silent SNP C C T rs148594615 TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr4:55573316C>T ENST00000288135.5 + 6 1075 c.978C>T c.(976-978)aaC>aaT p.N326N NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 326 Ig-like C2-type 4. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.N326N(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TATTTGTAAACGATGGAGAAA 0.333000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 5 10 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 132 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 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 12 37 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5235247 5235247 + Missense_Mutation SNP C C A TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr5:5235247C>A ENST00000274181.7 + 13 2109 c.1971C>A c.(1969-1971)agC>agA p.S657R ADAMTS16_ENST00000513709.1_3'UTR NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 657 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 AGCACAACAGCAGACGATTCA 0.512000 3 33 0.115264 0.115264 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 38 0 0 1 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 3 29 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481996 142481997 + RNA INS - - C TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr7:142481996_142481997insC ENST00000603901.1 + 0 591 NR_001296.3 TCCCAAGGTGGGGGGCTGAGGA 0.564 4 3 --- --- --- --- GIPC1 10755 broad.mit.edu 37 19 14590242 14590242 + Frame_Shift_Del DEL G G - TCGA-DJ-A3V2-01A-11D-A22Z-08 TCGA-DJ-A3V2-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx a110ba2f-d614-40c7-bef1-6d10230f8a68 e59aedfe-f1b1-49f0-a7b0-d7f783110c62 g.chr19:14590242delG ENST00000393033.4 - 7 1019 c.750delC c.(748-750)ccfs p.P250fs GIPC1_ENST00000586027.1_Frame_Shift_Del_p.P250fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000393029.3_Frame_Shift_Del_p.P153fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.P250fs NM_005716.3 NP_005707.1 O14908 GIPC1_HUMAN GIPC PDZ domain containing family, member 1 250 endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 CCACCGTGGCGGGGCCCCGGG 0.617 2 4 --- --- --- ---