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 MSL3P1 151507 broad.mit.edu 37 2 234774852 234774852 + 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.chr2:234774852G>C uc010znf.2 - 1 1228 c.990C>G c.(988-990)gaC>gaG p.D330E Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA. CTGGGAAGAAGTCATCGTGGT 0.433000 19 32 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 uc001pdq.3 + 2 151 c.51G>C c.(49-51)gaG>gaC p.E17D CCDC67_uc001pdo.1_Missense_Mutation_p.E17D|CCDC67_uc001pdp.3_Missense_Mutation_p.E17D NM_181645 NP_857596 Q05D60 CCD67_HUMAN Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA. 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 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 uc004cbx.1 + 3 513 c.402C>T c.(400-402)taC>taT p.Y134Y C9orf9_uc004cby.1_Silent_p.Y134Y|C9orf9_uc004cbz.1_Silent_p.Y134Y NM_018956 NP_061829 Q96E40 CI009_HUMAN Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA. 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 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 uc002poo.4 + 2 358 c.358A>G c.(358-360)Aca>Gca p.T120A NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 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 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 uc003ymu.3 - 11 1288 c.1260G>A c.(1258-1260)atG>atA p.M420I EIF3E_uc003ymt.3_Missense_Mutation_p.M371I NM_001568 NP_001559 P60228 EIF3E_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA. 420 Sufficient for interaction with MCM7. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay PML body|cytosol|eukaryotic translation initiation factor 3 complex 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 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 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 6 21 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 uc003oyo.3 - 16 3627 c.3338A>G c.(3337-3339)tAt>tGt p.Y1113C GPR116_uc011dwj.1_Missense_Mutation_p.Y668C|GPR116_uc011dwk.1_Missense_Mutation_p.Y542C|GPR116_uc003oyp.3_Missense_Mutation_p.Y971C|GPR116_uc003oyq.3_Missense_Mutation_p.Y1113C|GPR116_uc010jzi.1_Missense_Mutation_p.Y785C NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 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 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 uc004cii.1 - 0 210 c.108G>T c.(106-108)ctG>ctT p.L36L AGPAT2_uc004cij.1_Silent_p.L36L NM_006412 NP_006403 O15120 PLCB_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA. 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 p.L36Q(1) 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 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 uc003jhe.2 + 6 1406 c.1046C>A c.(1045-1047)gCc>gAc p.A349D CDH6_uc003jhd.2_Missense_Mutation_p.A349D NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 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 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 uc002cyd.1 - 21 3635 c.3545C>T c.(3544-3546)cCc>cTc p.P1182L NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 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 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 uc003jdl.3 + 13 2166 c.2028G>A c.(2026-2028)caG>caA p.Q676Q ADAMTS16_uc003jdk.1_Silent_p.Q676Q|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 676 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q676E(1) 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 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 uc002pru.1 - 1 1487 c.1192C>G c.(1192-1194)Ctc>Gtc p.L398V KCNC3_uc002prt.1_Missense_Mutation_p.L34V NM_004977 NP_004968 Q14003 KCNC3_HUMAN Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA. 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 ZC3H15 55854 broad.mit.edu 37 2 187351112 187351113 + Frame_Shift_Ins 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 uc002upo.3 + 0 228_229 c.3_4insC c.(1-6)atgcccfs p.M1fs NM_018471 NP_060941 Q8WU90 ZC3HF_HUMAN Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA. 1 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 --- --- --- ---