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 SCN2A 6326 broad.mit.edu 37 2 166231282 166231282 + Missense_Mutation SNP A A G TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr2:166231282A>G uc002udc.3 + 21 4350 c.4060A>G c.(4060-4062)Atg>Gtg p.M1354V SCN2A_uc002udd.3_Missense_Mutation_p.M1354V|SCN2A_uc002ude.3_Missense_Mutation_p.M1354V NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1354 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) ATTCAGTATCATGGGAGTGAA 0.398000 3 84 0 0 1 0 0 FANCG 2189 broad.mit.edu 37 9 35079474 35079474 + Nonsense_Mutation SNP C C T TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr9:35079474C>T uc003zwb.1 - 0 540 c.48G>A c.(46-48)tgG>tgA p.W16* FANCG_uc010mkj.1_5'UTR|FANCG_uc011lot.1_Nonsense_Mutation_p.W16* NM_004629 NP_004620 O15287 FANCG_HUMAN Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. 16 DNA repair|cell cycle checkpoint|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCTTTTCCCTCCACAGGTCCA 0.617000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 31 61 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30873051 30873051 + Missense_Mutation SNP G G A TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chrX:30873051G>A uc004dck.3 - 6 1278 c.731C>T c.(730-732)aCt>aTt p.T244I TAB3_uc010ngl.3_Missense_Mutation_p.T244I|TAB3_uc004dcj.3_Missense_Mutation_p.T244I NM_152787 NP_690000 Q8N5C8 TAB3_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA. 244 Pro-rich. I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 ACTCTGAGGAGTTTGTCTTCC 0.463000 8 9 0 0 1 0 0 MED6 10001 broad.mit.edu 37 14 71051560 71051560 + Silent SNP G G A TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr14:71051560G>A uc010tth.2 - 7 762 c.732C>T c.(730-732)ggC>ggT p.G244G MED6_uc001xmf.3_Silent_p.G237G|MED6_uc010tti.2_3'UTR NM_005466 NP_005457 O75586 MED6_HUMAN Homo sapiens mediator complex subunit 6 (MED6), mRNA. 237 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) TTTCAGGGGGGCCTTTAGCAC 0.448000 12 129 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150774839 150774839 + Silent SNP G G C TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr7:150774839G>C uc003wix.1 - 5 1166 c.1068C>G c.(1066-1068)cgC>cgG p.R356R AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Silent_p.R117R|FASTK_uc003wiy.1_Silent_p.R215R|FASTK_uc003wiz.1_Silent_p.R329R|FASTK_uc003wja.1_3'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA. 356 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) GGGAGAGGTAGCGACGCACAA 0.692000 3 51 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50679702 50679702 + Missense_Mutation SNP G G A TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr3:50679702G>A uc003day.2 + 6 1085 c.443G>A c.(442-444)cGg>cAg p.R148Q MAPKAPK3_uc003daz.2_Missense_Mutation_p.R148Q|MAPKAPK3_uc003dba.2_Missense_Mutation_p.R148Q|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.R148Q NM_001243926 NP_001230855 Q16644 MAPK3_HUMAN Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA. 148 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GAGATAATGCGGGATATTGGC 0.562000 8 60 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783688 47783688 + Silent SNP G G A TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr21:47783688G>A uc002zji.4 + 13 2555 c.2448G>A c.(2446-2448)gaG>gaA p.E816E PCNT_uc002zjj.3_Silent_p.E698E NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 816 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTTGACGGAGCAGCAGGGCC 0.607000 3 105 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36333350 36333350 + Missense_Mutation SNP C C T TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr19:36333350C>T uc002oby.3 - 17 2593 c.2437G>A c.(2437-2439)Gct>Act p.A813T NM_004646 NP_004637 O60500 NPHN_HUMAN Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA. 813 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACTGGTAAGCGCCAGCCTGG 0.572000 52 70 0 0 1 0 0 MED31 51003 broad.mit.edu 37 17 6553725 6553725 + Missense_Mutation SNP C C A TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr17:6553725C>A uc002gdg.4 - 1 163 c.57G>T c.(55-57)caG>caT p.Q19H MED31_uc002gdh.4_Non-coding_Transcript|C17orf100_uc010clp.1_5'Flank NM_016060 NP_057144 Q9Y3C7 MED31_HUMAN Homo sapiens mediator complex subunit 31 (MED31), mRNA. 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding p.Q19*(1) cervix(1)|endometrium(1)|large_intestine(1) 3 CCAACTCCAACTGAAACCGAA 0.348000 10 108 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44089851 44089851 + Silent SNP C C T TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr7:44089851C>T uc003tjq.4 + 1 209 c.111C>T c.(109-111)agC>agT p.S37S DBNL_uc003tjo.4_Silent_p.S37S|DBNL_uc003tjp.4_Silent_p.S37S|DBNL_uc011kbm.2_Silent_p.S37S|DBNL_uc011kbo.2_5'UTR|DBNL_uc011kbp.2_Silent_p.S37S|DBNL_uc011kbq.2_5'UTR|DBNL_uc011kbn.2_Intron|DBNL_uc011kbr.2_5'UTR|DBNL_uc011kbs.2_5'Flank NM_001122956 NP_001116428 Q9UJU6 DBNL_HUMAN Homo sapiens drebrin-like (DBNL), transcript variant 3, mRNA. 37 ADF-H. Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 AAGGCAACAGCAATGACATCC 0.557000 7 106 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 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) 80 85 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19460201 19460201 + Missense_Mutation SNP C C T TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr19:19460201C>T uc002nmk.4 + 15 1543 c.1504C>T c.(1504-1506)Ctc>Ttc p.L502F MAU2_uc002nml.4_Missense_Mutation_p.L107F|MAU2_uc010ecd.3_Missense_Mutation_p.L107F|MAU2_uc010ece.3_Missense_Mutation_p.L78F NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA. 502 cell division|maintenance of mitotic sister chromatid cohesion SMC loading complex|chromatin|nucleoplasm protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 AGCCTGCTCCCTCGTGCTTCT 0.592000 6 173 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128641196 128641196 + Silent SNP C C T TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr7:128641196C>T uc010lly.2 - 5 1192 c.789G>A c.(787-789)ttG>ttA p.L263L TNPO3_uc003vol.2_Silent_p.L263L|TNPO3_uc010llz.2_Silent_p.L263L|TNPO3_uc003vom.2_Silent_p.L197L NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA. 263 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TGGCTAATGGCAAGTTAGTCT 0.463000 61 107 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53340255 53340255 + Missense_Mutation SNP G G T TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr16:53340255G>T uc002ehb.3 + 30 6890 c.6726G>T c.(6724-6726)gaG>gaT p.E2242D CHD9_uc002egy.3_Missense_Mutation_p.E2242D|CHD9_uc002ehc.3_Missense_Mutation_p.E2243D|CHD9_uc002ehf.3_Missense_Mutation_p.E1356D|CHD9_uc002ehg.2_Missense_Mutation_p.E1357D|CHD9_uc010cbw.3_Missense_Mutation_p.E308D NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 2242 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GGACACCAGAGTCTGCTTATA 0.408000 8 31 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100919704 100919704 + Missense_Mutation SNP G G A TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr9:100919704G>A uc004ayn.2 - 1 355 c.239C>T c.(238-240)gCa>gTa p.A80V CORO2A_uc004ayl.3_Intron|CORO2A_uc004aym.3_Intron Q92828 COR2A_HUMAN Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA. 0 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) gtcctGCCCTGCCTCCAGAGA 0.547000 18 23 0 0 1 0 0 SIGMAR1 10280 broad.mit.edu 37 9 34637622 34637622 + Frame_Shift_Del DEL C C - TCGA-EL-A3GW-01A-11D-A202-08 TCGA-EL-A3GW-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f3f423d-d21f-4330-9986-26097a9378e7 cd043df0-4d9a-45c5-8a09-4da1761f4f78 g.chr9:34637622delC uc003zvb.3 - 0 147 c.73delG c.(73-75)gtcfs p.V25fs SIGMAR1_uc003zva.4_Frame_Shift_Del_p.V25fs|SIGMAR1_uc003zuz.3_5'UTR|SIGMAR1_uc003zvd.3_Non-coding_Transcript|SIGMAR1_uc003zvc.3_Frame_Shift_Del_p.V25fs|SIGMAR1_uc011loo.1_Frame_Shift_Del_p.V25fs NM_005866 NP_005857 Q99720 SGMR1_HUMAN Homo sapiens sigma non-opioid intracellular receptor 1 (SIGMAR1), transcript variant 1, mRNA. 25 ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding large_intestine(1)|lung(1) 2 Dextromethorphan(DB00514) AGCCAGACGACCTGGGTCAGC 0.726 2 4 --- --- --- ---