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 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 uc010gnw.3 - 4 680 c.385G>C c.(385-387)Gag>Cag p.E129Q ERG_uc021wjd.1_Missense_Mutation_p.E129Q|ERG_uc002yxa.3_Missense_Mutation_p.E122Q|ERG_uc011aek.2_Missense_Mutation_p.E30Q|ERG_uc010gnv.3_Missense_Mutation_p.E30Q|ERG_uc010gnx.3_Missense_Mutation_p.E129Q|ERG_uc011ael.2_Missense_Mutation_p.E129Q|ERG_uc002yxb.3_Missense_Mutation_p.E129Q|ERG_uc011aem.1_Missense_Mutation_p.E122Q|ERG_uc002yxc.4_Missense_Mutation_p.E129Q NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 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 1 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 uc010qwv.2 - 9 1159 c.1118C>T c.(1117-1119)gCc>gTc p.A373V CHID1_uc010qwu.1_Missense_Mutation_p.A342V|CHID1_uc001lsn.3_Missense_Mutation_p.A337V|CHID1_uc001lso.3_Missense_Mutation_p.A312V|CHID1_uc001lsm.3_Missense_Mutation_p.A312V|CHID1_uc001lsp.3_Missense_Mutation_p.A281V|CHID1_uc010qww.2_Missense_Mutation_p.A312V|AX747537_uc001lsq.1_5'Flank|AX747537_uc001lsr.1_5'Flank NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA. 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 1 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 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) 56 87 0 0 1 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 uc010yvl.2 + 1 367 c.133G>A c.(133-135)Gga>Aga p.G45R COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Missense_Mutation_p.G28R|UNC50_uc002szb.3_Missense_Mutation_p.G28R NM_014044 NP_054763 Q53HI1 UNC50_HUMAN Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA. 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 1 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 uc010hjp.3 - 6 1216 c.612A>G c.(610-612)atA>atG p.I204M KIF9_uc003cqx.3_Missense_Mutation_p.I204M|KIF9_uc003cqy.3_Missense_Mutation_p.I204M|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript NM_001134878 NP_878905 Q9HAQ2 KIF9_HUMAN Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA. 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 1 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 uc002mvn.1 - 1 372 c.226G>A c.(226-228)Ggc>Agc p.G76S DNASE2_uc010xmr.1_Missense_Mutation_p.G76S NM_001375 NP_001366 O00115 DNS2A_HUMAN Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. 76 apoptosis lysosome DNA binding|deoxyribonuclease II activity|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AGGCTTCGGCCCACGGCCCCC 0.692000 25 19 0 0 1 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 uc010gnw.3 - 4 680 c.385G>C c.(385-387)Gag>Cag p.E129Q ERG_uc021wjd.1_Missense_Mutation_p.E129Q|ERG_uc002yxa.3_Missense_Mutation_p.E122Q|ERG_uc011aek.2_Missense_Mutation_p.E30Q|ERG_uc010gnv.3_Missense_Mutation_p.E30Q|ERG_uc010gnx.3_Missense_Mutation_p.E129Q|ERG_uc011ael.2_Missense_Mutation_p.E129Q|ERG_uc002yxb.3_Missense_Mutation_p.E129Q|ERG_uc011aem.1_Missense_Mutation_p.E122Q|ERG_uc002yxc.4_Missense_Mutation_p.E129Q NM_001243428 NP_001230357 P11308 ERG_HUMAN Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA. 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 1 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 uc010qwv.2 - 9 1159 c.1118C>T c.(1117-1119)gCc>gTc p.A373V CHID1_uc010qwu.1_Missense_Mutation_p.A342V|CHID1_uc001lsn.3_Missense_Mutation_p.A337V|CHID1_uc001lso.3_Missense_Mutation_p.A312V|CHID1_uc001lsm.3_Missense_Mutation_p.A312V|CHID1_uc001lsp.3_Missense_Mutation_p.A281V|CHID1_uc010qww.2_Missense_Mutation_p.A312V|AX747537_uc001lsq.1_5'Flank|AX747537_uc001lsr.1_5'Flank NM_023947 NP_076436 Q9BWS9 CHID1_HUMAN Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA. 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 1 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 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) 56 87 0 0 1 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 uc010yvl.2 + 1 367 c.133G>A c.(133-135)Gga>Aga p.G45R COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Missense_Mutation_p.G28R|UNC50_uc002szb.3_Missense_Mutation_p.G28R NM_014044 NP_054763 Q53HI1 UNC50_HUMAN Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA. 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 1 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 uc010hjp.3 - 6 1216 c.612A>G c.(610-612)atA>atG p.I204M KIF9_uc003cqx.3_Missense_Mutation_p.I204M|KIF9_uc003cqy.3_Missense_Mutation_p.I204M|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript NM_001134878 NP_878905 Q9HAQ2 KIF9_HUMAN Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA. 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 1 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 uc002mvn.1 - 1 372 c.226G>A c.(226-228)Ggc>Agc p.G76S DNASE2_uc010xmr.1_Missense_Mutation_p.G76S NM_001375 NP_001366 O00115 DNS2A_HUMAN Homo sapiens deoxyribonuclease II, lysosomal (DNASE2), mRNA. 76 apoptosis lysosome DNA binding|deoxyribonuclease II activity|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AGGCTTCGGCCCACGGCCCCC 0.692000 25 19 0 0 1 0 0 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 uc002kcy.3 + 8 1031 c.934_splice c.e8-1 p.P312_splice ASPSCR1_uc002kcx.3_Splice_Site_p.P312_splice|ASPSCR1_uc021ufj.1_Splice_Site_p.P235_splice|ASPSCR1_uc002kda.3_Splice_Site_p.P235_splice|ASPSCR1_uc002kdb.1_Splice_Site_p.P235_splice NM_001251888 NP_001238817 Q9BZE9 ASPC1_HUMAN Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA. 312 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 --- --- --- ---