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 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 26 0 0 0.000248 0 0 KIF9 64147 broad.mit.edu 37 3 47308733 47308733 + Missense_Mutation SNP T T C TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr3:47308733T>C ENST00000335044.2 - 6 969 c.612A>G c.(610-612)atA>atG p.I204M KIF9_ENST00000265529.3_Missense_Mutation_p.I204M|KIF9_ENST00000444589.2_Missense_Mutation_p.I204M|KIF9_ENST00000452770.2_Missense_Mutation_p.I204M|KIF9_ENST00000352910.4_Missense_Mutation_p.I111M|KIF9_ENST00000487440.1_5'UTR NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 204 Kinesin-motor. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGTGGGAGGCTATAATCCTGT 0.443000 3 236 0 0 0.004672 0 0 DNASE2 1777 broad.mit.edu 37 19 12991827 12991827 + Missense_Mutation SNP C C T TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr19:12991827C>T ENST00000222219.3 - 2 318 c.226G>A c.(226-228)Ggc>Agc p.G76S CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G76S NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 76 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AGGCTTCGGCCCACGGCCCCC 0.692000 25 19 0 0 0.003954 0 0 ERG 2078 broad.mit.edu 37 21 39795356 39795356 + Missense_Mutation SNP C C G TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr21:39795356C>G ENST00000442448.1 - 5 656 c.385G>C c.(385-387)Gag>Cag p.E129Q ERG_ENST00000398907.1_Missense_Mutation_p.E122Q|ERG_ENST00000288319.7_Missense_Mutation_p.E122Q|ERG_ENST00000398897.1_Missense_Mutation_p.E30Q|ERG_ENST00000398919.2_Missense_Mutation_p.E129Q|ERG_ENST00000417133.2_Missense_Mutation_p.E129Q|ERG_ENST00000453032.2_Missense_Mutation_p.E30Q|ERG_ENST00000398911.1_Missense_Mutation_p.E129Q|ERG_ENST00000398905.1_Missense_Mutation_p.E122Q|ERG_ENST00000398910.1_Missense_Mutation_p.E129Q|ERG_ENST00000429727.2_Missense_Mutation_p.E122Q NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 129 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ACTCTGCGCTCGTTCGTGGTC 0.597000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 12 23 0 0 0.001855 0 0 FRG1B 0 broad.mit.edu 37 20 29628251 29628251 + Missense_Mutation SNP A A G TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr20:29628251A>G ENST00000278882.3 + 6 633 c.253A>G c.(253-255)Aat>Gat p.N85D FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D p.N85D(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTGGCCTCAAATAGCTGCTT 0.358000 4 76 0 0 0.006214 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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) 56 87 0 0 0.003610 0 0 UNC50 25972 broad.mit.edu 37 2 99226304 99226304 + Missense_Mutation SNP G G A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr2:99226304G>A ENST00000409975.1 + 1 1263 c.133G>A c.(133-135)Gga>Aga p.G45R UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 28 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 ACACACAGCCGGAGCGAAACG 0.483000 4 191 0 0 0.000248 0 0 PDHA2 5161 broad.mit.edu 37 4 96761513 96761513 + Missense_Mutation SNP G G A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr4:96761513G>A ENST00000295266.4 + 1 275 c.212G>A c.(211-213)cGc>cAc p.R71H NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 71 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.R71H(2) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ACTGTTCGCCGCATGGAATTG 0.507000 4 76 0 0 0.000248 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 4 40 0 0 0.000248 0 0 CHID1 66005 broad.mit.edu 37 11 883172 883172 + Missense_Mutation SNP G G A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr11:883172G>A ENST00000449825.1 - 10 1291 c.935C>T c.(934-936)gCc>gTc p.A312V CHID1_ENST00000454838.2_Missense_Mutation_p.A337V|CHID1_ENST00000323541.7_Missense_Mutation_p.A342V|CHID1_ENST00000436108.2_Missense_Mutation_p.A312V|CHID1_ENST00000429789.2_Missense_Mutation_p.A281V|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000336845.5_Missense_Mutation_p.A337V|CHID1_ENST00000323578.8_Missense_Mutation_p.A312V|CHID1_ENST00000528581.1_Missense_Mutation_p.A337V NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 312 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) AGGCTCACGGGCATCCTTGGA 0.622000 4 144 0 0 0.000248 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 f019b164-6be7-43df-b9db-6191e32ff67f g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 55 0 0 0.001984 0 0 RPF2 84154 broad.mit.edu 37 6 111346773 111346773 + Silent SNP T T A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr6:111346773T>A ENST00000441448.2 + 10 1001 c.909T>A c.(907-909)atT>atA p.I303I NM_032194.1 NP_115570.1 Q9H7B2 RPF2_HUMAN ribosome production factor 2 homolog (S. cerevisiae) 303 nucleolus protein binding p.I303I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2) 7 CAAAAAGAATTAAAAAAAATT 0.368000 7 16 0 0 0.003080 0 0 KIF9 64147 broad.mit.edu 37 3 47308733 47308733 + Missense_Mutation SNP T T C TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr3:47308733T>C ENST00000335044.2 - 6 969 c.612A>G c.(610-612)atA>atG p.I204M KIF9_ENST00000452770.2_Missense_Mutation_p.I204M|KIF9_ENST00000265529.3_Missense_Mutation_p.I204M|KIF9_ENST00000444589.2_Missense_Mutation_p.I204M|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.I111M NM_001134878.1|NM_182902.3 NP_001128350.1|NP_878905.2 Q9HAQ2 KIF9_HUMAN kinesin family member 9 204 Kinesin-motor. blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) TGTGGGAGGCTATAATCCTGT 0.443000 3 236 0 0 0.004672 0 0 DNASE2 1777 broad.mit.edu 37 19 12991827 12991827 + Missense_Mutation SNP C C T TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr19:12991827C>T ENST00000222219.3 - 2 318 c.226G>A c.(226-228)Ggc>Agc p.G76S CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G76S NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 76 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AGGCTTCGGCCCACGGCCCCC 0.692000 25 19 0 0 0.003954 0 0 ERG 2078 broad.mit.edu 37 21 39795356 39795356 + Missense_Mutation SNP C C G TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr21:39795356C>G ENST00000442448.1 - 5 656 c.385G>C c.(385-387)Gag>Cag p.E129Q ERG_ENST00000398919.2_Missense_Mutation_p.E129Q|ERG_ENST00000398907.1_Missense_Mutation_p.E122Q|ERG_ENST00000398905.1_Missense_Mutation_p.E122Q|ERG_ENST00000429727.2_Missense_Mutation_p.E122Q|ERG_ENST00000398910.1_Missense_Mutation_p.E129Q|ERG_ENST00000398911.1_Missense_Mutation_p.E129Q|ERG_ENST00000398897.1_Missense_Mutation_p.E30Q|ERG_ENST00000417133.2_Missense_Mutation_p.E129Q|ERG_ENST00000453032.2_Missense_Mutation_p.E30Q|ERG_ENST00000288319.7_Missense_Mutation_p.E122Q NM_004449.4 NP_004440.1 P11308 ERG_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 129 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50) lung(2)|ovary(1)|skin(1) 4 Prostate(19;3.6e-06) ACTCTGCGCTCGTTCGTGGTC 0.597000 T """EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1""" """Ewing sarcoma, prostate, AML""" 12 23 0 0 0.001855 0 0 LINC00969 0 broad.mit.edu 37 3 195410627 195410627 + RNA SNP A A G rs6583272 by1000genomes TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr3:195410627A>G ENST00000445430.1 + 0 1824 CCTCAGGTGCAGATTGATGAG 0.473000 4 12 0 0 0.000602 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(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) 56 87 0 0 0.003610 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84547870 84547870 + RNA SNP T T C rs138226188 by1000genomes TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr9:84547870T>C ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CGTGAACCCATAGAAATCTTC 0.428000 11 26 0 0 0.008291 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 6 44 0 0 0.003080 0 0 UNC50 25972 broad.mit.edu 37 2 99226304 99226304 + Missense_Mutation SNP G G A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr2:99226304G>A ENST00000409975.1 + 1 1263 c.133G>A c.(133-135)Gga>Aga p.G45R UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|UNC50_ENST00000357765.2_Missense_Mutation_p.G28R Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 28 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 ACACACAGCCGGAGCGAAACG 0.483000 4 191 0 0 0.000248 0 0 PDHA2 5161 broad.mit.edu 37 4 96761513 96761513 + Missense_Mutation SNP G G A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr4:96761513G>A ENST00000295266.4 + 1 275 c.212G>A c.(211-213)cGc>cAc p.R71H NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 71 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.R71H(2) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ACTGTTCGCCGCATGGAATTG 0.507000 4 76 0 0 0.000248 0 0 CHID1 66005 broad.mit.edu 37 11 883172 883172 + Missense_Mutation SNP G G A TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr11:883172G>A ENST00000449825.1 - 10 1291 c.935C>T c.(934-936)gCc>gTc p.A312V CHID1_ENST00000454838.2_Missense_Mutation_p.A337V|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Missense_Mutation_p.A312V|CHID1_ENST00000336845.5_Missense_Mutation_p.A337V|CHID1_ENST00000429789.2_Missense_Mutation_p.A281V|CHID1_ENST00000323541.7_Missense_Mutation_p.A342V|CHID1_ENST00000323578.8_Missense_Mutation_p.A312V|CHID1_ENST00000528581.1_Missense_Mutation_p.A337V NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 312 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) AGGCTCACGGGCATCCTTGGA 0.622000 4 144 0 0 0.000248 0 0 ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 7 149 --- --- --- --- ASPSCR1 79058 broad.mit.edu 37 17 79966911 79966925 + Splice_Site DEL AGCCCGTGGACCGGG AGCCCGTGGACCGGG - TCGA-BJ-A2N7-01A-11D-A18F-08 TCGA-BJ-A2N7-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx de442e29-fc8d-43ac-ab0f-2998b2ca7df2 aabbbea7-bee7-4732-aa63-bbeebc54dcd4 g.chr17:79966911_79966925delAGCCCGTGGACCGGG ENST00000306729.7 + 8 1030_1043 c.933_splice c.e8-1 p.R311_splice ASPSCR1_ENST00000306739.4_Splice_Site_p.R311_splice|ASPSCR1_ENST00000580534.1_Splice_Site_p.R234_splice NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 311 Breakpoint for translocation to form ASPSCR1-TFE3. protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTCTGCCTCCAGCCCGTGGACCGGGAGCCCGTGGA 0.721 T TFE3 alveolar soft part sarcoma 4 5 --- --- --- ---