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 KMT2A 4297 broad.mit.edu 37 11 118379887 118379887 + Missense_Mutation SNP A A C TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr11:118379887A>C ENST00000534358.1 + 29 10895 c.10872A>C c.(10870-10872)caA>caC p.Q3624H KMT2A_ENST00000389506.5_Missense_Mutation_p.Q3621H|KMT2A_ENST00000354520.4_Missense_Mutation_p.Q3583H NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGGTGACCCAAAATCCAGCAA 0.368000 4 38 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76495940 76495940 + Missense_Mutation SNP C C G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr16:76495940C>G ENST00000307431.8 + 10 1803 c.1418C>G c.(1417-1419)gCt>gGt p.A473G CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A425G|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A401G|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A477G NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 474 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GGCCAGATGGCTTCTGCTGCT 0.488000 7 60 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91628470 91628470 + Silent SNP G G T TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr9:91628470G>T ENST00000375835.4 - 12 1983 c.1677C>A c.(1675-1677)gtC>gtA p.V559V NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 559 SH2. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TACTGTCAAAGACTCTGTCCT 0.493000 10 105 4.68919e-08 4.87676e-08 1 1 0 ZNF223 7766 broad.mit.edu 37 19 44564909 44564909 + Silent SNP A A G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr19:44564909A>G ENST00000591793.1 + 6 563 c.480A>G c.(478-480)caA>caG p.Q160Q ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000585552.1_Silent_p.Q50Q|ZNF223_ENST00000434772.3_Silent_p.Q50Q Q9UK11 ZN223_HUMAN zinc finger protein 223 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) CAGGGCATCAACCATTCCACC 0.408000 68 173 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966572 139966572 + Missense_Mutation SNP C C G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr4:139966572C>G ENST00000280614.2 + 3 1433 c.1240C>G c.(1240-1242)Cac>Gac p.H414D ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 414 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) TCCTTCAGACCACCTGTCTCT 0.383000 25 73 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164050124 164050124 + Silent SNP T T G TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr4:164050124T>G ENST00000274054.2 - 8 1603 c.1410A>C c.(1408-1410)ccA>ccC p.P470P NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 470 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) ggggagggggtgggggtaggg 0.522000 3 15 0 0 1 0 0 LMLN 89782 broad.mit.edu 37 3 197723067 197723067 + Missense_Mutation SNP G G A TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr3:197723067G>A ENST00000330198.4 + 10 1091 c.1069G>A c.(1069-1071)Gat>Aat p.D357N LMLN_ENST00000482695.1_Missense_Mutation_p.D305N|LMLN_ENST00000420910.2_Missense_Mutation_p.D357N|LMLN_ENST00000332636.5_Missense_Mutation_p.D305N NM_033029.3 NP_149018.2 Q96KR4 LMLN_HUMAN leishmanolysin-like (metallopeptidase M8 family) 357 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) AAAACATTTTGATTGTCCAGT 0.368000 6 44 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274518 39274518 + Missense_Mutation SNP C C T rs9897031 by1000genomes TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr17:39274518C>T ENST00000391413.2 - 1 88 c.50G>A c.(49-51)cGa>cAa p.R17Q NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 17 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. R -> Q (in Ref. 1; CAC27583 and 3; AAI26132/AAI30563). keratin filament 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) GCAGAGGTCTCGGCCACAGCC 0.592000 4 58 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b 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 28 62 0 0 1 0 0 POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-E8-A419-01A-11D-A23M-08 TCGA-E8-A419-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 59d39493-4797-45ee-ae2b-bbb49c3a801d bf895cab-a1b0-42e8-8b95-7cfe22084e9b g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 3 3 --- --- --- ---