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 118375798 118375798 + Missense_Mutation SNP A A G TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr11:118375798A>G ENST00000534358.1 + 27 9214 c.9191A>G c.(9190-9192)aAt>aGt p.N3064S KMT2A_ENST00000354520.4_Missense_Mutation_p.N3023S|KMT2A_ENST00000389506.5_Missense_Mutation_p.N3061S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CAGATTTCCAATGCAGCTGTC 0.502000 31 126 0 0 0.00283554 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) 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) GCACTGGGGCCTGCAGCAGCT 0.672000 5 36 0 0 0.000673444 0 0 ZW10 9183 broad.mit.edu 37 11 113644351 113644351 + Missense_Mutation SNP C C T TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr11:113644351C>T ENST00000200135.3 - 1 182 c.38G>A c.(37-39)gGg>gAg p.G13E NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 13 Interaction with RINT1.|Interaction with ZWINT. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TTCCAGCCTCCCGGAGTGTGC 0.642000 23 43 0 0 0.000878237 0 0 RXFP1 59350 broad.mit.edu 37 4 159568291 159568291 + Missense_Mutation SNP C C T TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr4:159568291C>T ENST00000307765.5 + 16 1945 c.1694C>T c.(1693-1695)cCt>cTt p.P565L RXFP1_ENST00000343542.5_Missense_Mutation_p.P517L|RXFP1_ENST00000460056.2_Missense_Mutation_p.P484L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P532L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P460L NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 565 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GTATGCTTCCCTCTTCATTCA 0.333000 30 36 0 0 0.00106085 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 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 29 38 0 0 0.00178596 0 0 TBCC 6903 broad.mit.edu 37 6 42713803 42713803 + Silent SNP G G A TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr6:42713803G>A ENST00000244625.2 - 2 572 c.9C>T c.(7-9)tcC>tcT p.S3S TBCC_ENST00000372876.1_Silent_p.S3S Q15814 TBCC_HUMAN tubulin folding cofactor C 3 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|photoreceptor connecting cilium chaperone binding|GTPase activity p.S3S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3) 14 Colorectal(47;0.196) all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125) AGCAACTGACGGACTCCATAT 0.617000 6 52 0 0 0.00307968 0 0 MAML3 55534 broad.mit.edu 37 4 140811108 140811108 + Silent SNP C C T TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr4:140811108C>T ENST00000509479.2 - 2 2338 c.1482G>A c.(1480-1482)caG>caA p.Q494Q MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 494 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.537000 3 28 0 0 6.4e-05 0 0 C12orf66 144577 broad.mit.edu 37 12 64615867 64615867 + Missense_Mutation SNP A A G TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr12:64615867A>G ENST00000311915.8 - 1 178 c.151T>C c.(151-153)Tgg>Cgg p.W51R C12orf66_ENST00000544871.1_Intron|C12orf66_ENST00000398055.3_Missense_Mutation_p.W51R|C12orf66_ENST00000540673.1_5'UTR Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 51 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 AGCGACAGCCAGCTGCCCCCC 0.622000 3 21 0 0 6.4e-05 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 28 0 0 0.00448238 0 0 ZKSCAN8 0 broad.mit.edu 37 6 28116601 28116601 + Splice_Site SNP C C A TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr6:28116601C>A ENST00000330236.6 + 2 600 c.417_splice c.e2+1 p.P139_splice ZKSCAN8_ENST00000457389.2_Splice_Site_p.P139_splice NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2 NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2 zinc finger with KRAB and SCAN domains 8 CTAGGACGACCAGTAAGTAGA 0.498000 5 43 0.000602214 0.00882067 0.000602214 1 0 AC006293.3 0 broad.mit.edu 37 19 55224692 55224692 + RNA SNP T T C rs17207369 by1000genomes TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr19:55224692T>C ENST00000413439.1 + 0 1864 TGCTTTAGGATTGGCACAGCT 0.542000 2 14 0 0 6.4e-05 0 0 HRCT1 646962 broad.mit.edu 37 9 35906584 35906586 + In_Frame_Del DEL CCA CCA - TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr9:35906584_35906586delCCA ENST00000354323.2 + 1 396_398 c.300_302delCCA c.(298-303)ctc>ct p.LH100del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 ctcaccacctccaccaccaccac 0.660 6 12 --- --- --- --- RP1-85F18.5 0 broad.mit.edu 37 22 41586192 41586192 + RNA DEL C C - rs76554533 TCGA-FY-A3BL-01A-11D-A19J-08 TCGA-FY-A3BL-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx effadd42-bbb3-4ec9-bcd4-80d9e2d09a8d a8cbca5d-503d-4484-928b-ae5d9a9726a3 g.chr22:41586192delC ENST00000420537.1 - 0 223 TCTTCAAAGGCaaaaaaaaaa 0.408 4 6 --- --- --- ---