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 BRCC3 79184 broad.mit.edu 37 X 154305462 154305462 + Silent SNP T T A TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chrX:154305462T>A uc004fna.3 + 3 321 c.213T>A c.(211-213)atT>atA p.I71I BRCC3_uc011mzz.2_Non-coding_Transcript|BRCC3_uc004fnb.3_Silent_p.I71I|BRCC3_uc011mzy.2_Silent_p.I72I NM_024332 NP_077308 P46736 BRCC3_HUMAN Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA. 71 G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCGTCAGAATTGTTCACATTC 0.413000 20 30 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118362606 118362606 + Missense_Mutation SNP A A C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr11:118362606A>C uc001ptb.3 + 14 4990 c.4967A>C c.(4966-4968)aAt>aCt p.N1656T MLL_uc001pta.3_Missense_Mutation_p.N1653T|MLL_uc001pte.1_Non-coding_Transcript NM_001197104 NP_001184033 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA. 1653 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GCTTTGTTGAATTCTCGGACT 0.473000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 5 51 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541435 32541435 + Missense_Mutation SNP G G A TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr9:32541435G>A uc003zrb.3 - 2 3280 c.3088C>T c.(3088-3090)Cgg>Tgg p.R1030W TOPORS_uc003zrc.3_Missense_Mutation_p.R965W NM_005802 NP_001182551 Q9NS56 TOPRS_HUMAN Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA. 1030 DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent PML body|nuclear speck DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) AATGATGTCCGTGGCGATGGC 0.393000 4 62 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28846948 28846948 + Missense_Mutation SNP A A C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr16:28846948A>C uc002dqy.3 + 20 2931 c.2764A>C c.(2764-2766)Acg>Ccg p.T922P NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T922P|ATXN2L_uc002dra.3_Missense_Mutation_p.T922P|ATXN2L_uc002drb.3_Missense_Mutation_p.T922P|ATXN2L_uc002drc.3_Missense_Mutation_p.T922P|ATXN2L_uc010vdb.2_Missense_Mutation_p.T928P|ATXN2L_uc002dre.3_Missense_Mutation_p.T922P|ATXN2L_uc002drf.3_Missense_Mutation_p.T331P|ATXN2L_uc002drg.3_Missense_Mutation_p.T205P NM_148414 NP_680780 Q8WWM7 ATX2L_HUMAN Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA. 922 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCTGACAGGCACGCCGCCCTC 0.672000 15 34 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128445518 128445518 + Missense_Mutation SNP G G T TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr7:128445518G>T uc003vnv.2 + 5 1304 c.888G>T c.(886-888)atG>atT p.M296I CCDC136_uc003vnu.2_Missense_Mutation_p.M334I|CCDC136_uc003vnx.2_Missense_Mutation_p.M112I|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank NM_022742 NP_073579 Q96JN2 CC136_HUMAN Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA. 296 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 ATCCTGAAATGCAGTTGTTAC 0.502000 38 66 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72093914 72093914 + Silent SNP C C A TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr7:72093914C>A uc011kej.2 - 13 1731 c.1572G>T c.(1570-1572)gcG>gcT p.A524A TYW1B_uc011keh.1_Silent_p.A362A|TYW1B_uc011kei.2_Silent_p.A151A NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA. 525 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity ACACGAGCTGCGCGTAGGCCT 0.527000 3 19 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr1:115256529T>C uc009wgu.3 - 2 436 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 57 63 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20909296 20909296 + Silent SNP G G C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr22:20909296G>C uc002zsp.3 + 4 392 c.312G>C c.(310-312)cgG>cgC p.R104R MED15_uc002zsn.1_Silent_p.R23R|MED15_uc002zso.2_Intron|MED15_uc002zsq.3_Silent_p.R104R|MED15_uc010gso.3_Silent_p.R104R|MED15_uc002zsr.3_Silent_p.R78R|MED15_uc011ahs.2_Silent_p.R78R|MED15_uc011aht.1_Silent_p.R78R|MED15_uc002zss.3_Silent_p.R23R NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA. 104 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TGCCTCCTCGGGGCCCGGGAC 0.647000 5 50 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3788151 3788151 + Missense_Mutation SNP T T C TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr12:3788151T>C uc010sen.1 - 5 1026 c.454A>G c.(454-456)Atg>Gtg p.M152V EFCAB4B_uc001qmj.2_Missense_Mutation_p.M152V NM_001144958 NP_001138430 Q9BSW2 EFC4B_HUMAN Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA. 152 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) TCTTCGCCCATGTCGCCCAGA 0.532000 48 74 0 0 1 0 0 FAM131C 348487 broad.mit.edu 37 1 16388993 16388993 + Splice_Site SNP C C T TCGA-EL-A3ZH-01A-31D-A23M-08 TCGA-EL-A3ZH-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3cc31e6b-07a9-4f0e-b3f3-9005473057fa 14208ab1-4d73-4805-9538-8f63d23152a3 g.chr1:16388993C>T uc001axz.4 - 3 364 c.174_splice c.e3+1 p.Q58_splice NM_182623 NP_872429 Q96AQ9 F131C_HUMAN Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA. 58 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCACTGACCTGCCAAGGA 0.607000 3 5 0 0 1 0 0