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 CROCCP2 84809 broad.mit.edu 37 1 16946393 16946393 + RNA SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:16946393G>A ENST00000412962.1 - 0 1126 TCCTGCTGCAGGGCAGCAATC 0.662 3 22 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152328894 152328894 + Missense_Mutation SNP A A T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:152328894A>T ENST00000388718.5 - 3 1440 c.1368T>A c.(1366-1368)caT>caA p.H456Q FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 456 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGTAGACTCATGCTGGCCAC 0.493 4 154 --- --- --- --- SWT1 54823 broad.mit.edu 37 1 185159704 185159704 + Missense_Mutation SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:185159704G>T ENST00000367500.4 + 10 1618 c.1453G>T c.(1453-1455)Gat>Tat p.D485Y SWT1_ENST00000367501.3_Missense_Mutation_p.D485Y NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 485 PINc. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 TGAGAACAATGATGATCGAGT 0.363 10 30 --- --- --- --- SPAG16 79582 broad.mit.edu 37 2 215274874 215274874 + Silent SNP A A G TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr2:215274874A>G ENST00000331683.5 + 16 1826 c.1731A>G c.(1729-1731)ttA>ttG p.L577L AC107218.3_ENST00000412896.1_RNA|SPAG16_ENST00000374309.3_Silent_p.L483L|AC107218.3_ENST00000437883.1_RNA NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 577 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GTCGAGTTTTAGCTCAGGCAA 0.413 3 48 --- --- --- --- ST3GAL6 10402 broad.mit.edu 37 3 98487336 98487336 + Missense_Mutation SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr3:98487336G>T ENST00000394162.1 + 3 519 c.52G>T c.(52-54)Gta>Tta p.V18L ST3GAL6_ENST00000265261.6_5'UTR|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.V18L|ST3GAL6_ENST00000468553.1_Missense_Mutation_p.V18L NM_001271145.1|NM_006100.3 NP_001258074.1|NP_006091.1 Q9Y274 SIA10_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 6 18 amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1) 19 CCTCTATTATGTACTGCATTG 0.398 41 88 --- --- --- --- SPATA5 166378 broad.mit.edu 37 4 123848881 123848881 + Missense_Mutation SNP G G C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr4:123848881G>C ENST00000274008.4 + 2 325 c.256G>C c.(256-258)Gtg>Ctg p.V86L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 AGGTCGACCAGTGTTGCTTAC 0.343 34 55 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10556756 10556756 + Nonsense_Mutation SNP C C T rs55965450 TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr6:10556756C>T ENST00000316170.3 + 1 517 c.100C>T c.(100-102)Caa>Taa p.Q34* GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 35 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TCCAAGCTTCCAAAGGCTAAA 0.373 36 70 --- --- --- --- CNR1 1268 broad.mit.edu 37 6 88853757 88853757 + Missense_Mutation SNP G G A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr6:88853757G>A ENST00000537554.1 - 2 4799 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S CNR1_ENST00000549716.1_Missense_Mutation_p.P352S|CNR1_ENST00000428600.2_Missense_Mutation_p.P413S|CNR1_ENST00000535130.1_Missense_Mutation_p.P413S|CNR1_ENST00000369499.2_Missense_Mutation_p.P413S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.P380S|CNR1_ENST00000369501.2_Missense_Mutation_p.P413S|CNR1_ENST00000549890.1_Missense_Mutation_p.P413S NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 413 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TCACAAGAGGGAAACATGCTC 0.562 33 75 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48776073 48776073 + Silent SNP C C A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr8:48776073C>A ENST00000314191.2 - 43 5690 c.5634G>T c.(5632-5634)gtG>gtT p.V1878V PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V1878V NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1879 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GAGAATACATCACGTCTAGAA 0.333 Non-homologous end-joining 35 70 --- --- --- --- ASB6 140459 broad.mit.edu 37 9 132401543 132401543 + Missense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr9:132401543C>T ENST00000277458.4 - 4 614 c.449G>A c.(448-450)cGc>cAc p.R150H ASB6_ENST00000450050.2_Missense_Mutation_p.R71H|ASB6_ENST00000277459.4_Intron NM_017873.3 NP_060343.1 Q9NWX5 ASB6_HUMAN ankyrin repeat and SOCS box containing 6 150 intracellular signal transduction cytoplasm NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 15 Ovarian(14;0.00556) GCAGGGCAGGCGCTCAGGCTC 0.652 25 69 --- --- --- --- ATM 472 broad.mit.edu 37 11 108199783 108199783 + Silent SNP T T C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr11:108199783T>C ENST00000278616.4 + 49 7510 c.7125T>C c.(7123-7125)agT>agC p.S2375S ATM_ENST00000452508.2_Silent_p.S2375S|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2375 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATGGAGAAAGTAGTGATGAGC 0.323 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 17 27 --- --- --- --- CUL4A 8451 broad.mit.edu 37 13 113887612 113887612 + Missense_Mutation SNP A A C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr13:113887612A>C ENST00000451881.1 + 6 583 c.334A>C c.(334-336)Agc>Cgc p.S112R CUL4A_ENST00000375441.3_Missense_Mutation_p.S112R|CUL4A_ENST00000326335.4_Missense_Mutation_p.S112R|CUL4A_ENST00000375440.4_Missense_Mutation_p.S212R NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 212 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CGTGGACCGGAGCCTGTTGCG 0.542 13 41 --- --- --- --- LAIR1 3903 broad.mit.edu 37 19 54872560 54872560 + Nonsense_Mutation SNP C C T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr19:54872560C>T ENST00000391743.3 - 2 553 c.273G>A c.(271-273)tgG>tgA p.W91* LAIR1_ENST00000434277.2_Nonsense_Mutation_p.W108*|LAIR1_ENST00000391742.2_Nonsense_Mutation_p.W109*|LAIR1_ENST00000313038.6_Nonsense_Mutation_p.W102*|LAIR1_ENST00000463489.1_Intron|LAIR1_ENST00000474878.1_Nonsense_Mutation_p.W108*|LAIR1_ENST00000348231.4_Nonsense_Mutation_p.W109* Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 109 Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCTGCTCAGACCATTTAGGGG 0.557 32 95 --- --- --- --- NLRP9 338321 broad.mit.edu 37 19 56223890 56223890 + Silent SNP C C A TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr19:56223890C>A ENST00000332836.2 - 7 2595 c.2568G>T c.(2566-2568)ggG>ggT p.G856G NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 856 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TCTTCAGTTTCCCATTGCAAA 0.448 10 25 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61541166 61541166 + Missense_Mutation SNP T T C TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr20:61541166T>C ENST00000266070.4 - 4 1371 c.1046A>G c.(1045-1047)gAt>gGt p.D349G DIDO1_ENST00000370368.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395335.2_Missense_Mutation_p.D349G|DIDO1_ENST00000266071.5_Missense_Mutation_p.D349G|DIDO1_ENST00000354665.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370371.4_Missense_Mutation_p.D349G|DIDO1_ENST00000370366.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395343.1_Missense_Mutation_p.D349G|DIDO1_ENST00000395340.1_Missense_Mutation_p.D349G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 349 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTTGTACAATCGGTGCCATC 0.463 30 68 --- --- --- --- ALAS2 212 broad.mit.edu 37 X 55039950 55039950 + Missense_Mutation SNP G G T TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chrX:55039950G>T ENST00000330807.5 - 10 1706 c.1569C>A c.(1567-1569)caC>caA p.H523Q ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Missense_Mutation_p.H510Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.H486Q NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 523 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GAGGGCTGTGGTGGGGGGAGG 0.572 12 7 --- --- --- --- CYP2J2 1573 broad.mit.edu 37 1 60377936 60377936 + Frame_Shift_Del DEL T T - TCGA-V1-A8WL-01A-11D-A377-08 TCGA-V1-A8WL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36aca1a7-bdad-4b88-88b7-6c6f7bd62490 ea6da482-f7f1-4a1a-8380-b96418427d42 g.chr1:60377936delT ENST00000371204.3 - 3 464 c.421delA c.(421-423)actfs p.T141fs CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 141 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) GCTGTCAGAGTGAACCTTCTT 0.418 9 124 --- --- --- ---