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 MYOM3 127294 broad.mit.edu 37 1 24397629 24397629 + Missense_Mutation SNP T T C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:24397629T>C ENST00000330966.7 - 25 3293 c.3131A>G c.(3130-3132)aAc>aGc p.N1044S MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA Q5VTT5 MYOM3_HUMAN myomesin 3 1043 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GATCTCCTTGTTGTTGAAGAT 0.567 OREG0013235 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 44 --- --- --- --- LPPR5 163404 broad.mit.edu 37 1 99380467 99380467 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:99380467C>T ENST00000370188.3 - 5 1168 c.808G>A c.(808-810)Gtg>Atg p.V270M LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M NM_001010861.2 NP_001010861.1 Q32ZL2 LPPR5_HUMAN 270 integral to membrane hydrolase activity TTATTCACCACGCACACAACC 0.393 19 98 --- --- --- --- CD1C 911 broad.mit.edu 37 1 158262073 158262073 + Silent SNP A A T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr1:158262073A>T ENST00000368170.3 + 3 807 c.528A>T c.(526-528)acA>acT p.T176T NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 176 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TCACAGAAACAGTGTATAATC 0.478 7 281 --- --- --- --- LBH 81606 broad.mit.edu 37 2 30480447 30480447 + Missense_Mutation SNP A A G TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr2:30480447A>G ENST00000395323.3 + 3 486 c.278A>G c.(277-279)gAt>gGt p.D93G LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000467242.1_3'UTR|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000404397.1_Intron NM_030915.3 NP_112177.2 Q53QV2 LBH_HUMAN limb bud and heart development 93 multicellular organismal development|transcription, DNA-dependent cytoplasm|nucleolus endometrium(2)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(172;0.155) GATGAGCAAGATAACTGCGAA 0.557 13 25 --- --- --- --- C6 729 broad.mit.edu 37 5 41160290 41160290 + Silent SNP G G T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr5:41160290G>T ENST00000263413.3 - 11 1902 c.1638C>A c.(1636-1638)ggC>ggA p.G546G C6_ENST00000337836.5_Silent_p.G546G NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 546 EGF-like. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CACCATAGGTGCCACTCTGAC 0.463 19 59 --- --- --- --- FRS3 10817 broad.mit.edu 37 6 41738928 41738928 + Missense_Mutation SNP C C T rs143790685 TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr6:41738928C>T ENST00000373018.3 - 7 1159 c.908G>A c.(907-909)aGc>aAc p.S303N FRS3_ENST00000259748.2_Missense_Mutation_p.S303N NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 303 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTCCTCTGGGCTCAGTCTCCA 0.652 8 23 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69703688 69703688 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr6:69703688G>A ENST00000370598.1 + 11 2584 c.1763G>A c.(1762-1764)cGa>cAa p.R588Q NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 588 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R588P(1)|p.R588Q(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AAGGGGCAGCGAATGCTGGCA 0.418 33 171 --- --- --- --- MYB 4602 broad.mit.edu 37 6 135515025 135515025 + Missense_Mutation SNP A A T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr6:135515025A>T ENST00000341911.5 + 7 1011 c.812A>T c.(811-813)aAt>aTt p.N271I MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 271 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) AATATAGTCAATGTCCCTCAG 0.413 T NFIB adenoid cystic carcinoma 24 61 --- --- --- --- ADAM18 8749 broad.mit.edu 37 8 39495171 39495171 + Nonsense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr8:39495171G>A ENST00000265707.5 + 9 821 c.776G>A c.(775-777)tGg>tAg p.W259* ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 259 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TTTTTGGCATGGAAACGGGAC 0.358 18 65 --- --- --- --- DNHD1 144132 broad.mit.edu 37 11 6541310 6541310 + Missense_Mutation SNP C C T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:6541310C>T ENST00000254579.6 + 9 2327 c.1763C>T c.(1762-1764)tCt>tTt p.S588F DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F|DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 588 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCCTACAGTCTGTCAAGACC 0.483 13 36 --- --- --- --- OR5D16 390144 broad.mit.edu 37 11 55606971 55606971 + Silent SNP T T A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:55606971T>A ENST00000378396.1 + 1 744 c.744T>A c.(742-744)acT>acA p.T248T NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CCCACCTGACTGCCATCACCA 0.507 11 60 --- --- --- --- AASDHPPT 60496 broad.mit.edu 37 11 105948438 105948438 + Translation_Start_Site SNP A A C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr11:105948438A>C ENST00000278618.4 + 1 223 c.1A>C c.(1-3)Atg>Ctg p.M1L KBTBD3_ENST00000531837.1_5'UTR NM_015423.2 NP_056238.2 Q9NRN7 ADPPT_HUMAN aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase 1 macromolecule biosynthetic process|pantothenate metabolic process cytosol holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1) 17 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041) CTTTCAGTGTATGGTTTTCCC 0.667 8 43 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75602590 75602590 + Splice_Site SNP C C G TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr14:75602590C>G ENST00000303575.4 - 4 463 c.e4-1 RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) CTTTTGCAATCTGGAAAAGAA 0.368 20 40 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96829289 96829289 + Missense_Mutation SNP T T C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr14:96829289T>C ENST00000359933.4 - 1 918 c.25A>G c.(25-27)Atc>Gtc p.I9V NM_018036.5 NP_060506 Q96BY7 ATG2B_HUMAN autophagy related 2B 9 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) CTCTTCTTGATGGACTCCGAA 0.647 18 61 --- --- --- --- LASP1 3927 broad.mit.edu 37 17 37074891 37074891 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr17:37074891G>A ENST00000318008.6 + 7 977 c.646G>A c.(646-648)Gcc>Acc p.A216T LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 216 SH3. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 CTACAGCGCCGCCGACGAGGA 0.637 T MLL AML 26 69 --- --- --- --- INTS2 57508 broad.mit.edu 37 17 60003895 60003895 + Silent SNP A A C TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr17:60003895A>C ENST00000444766.3 - 2 210 c.135T>G c.(133-135)ctT>ctG p.L45L INTS2_ENST00000251334.6_Silent_p.L37L NM_020748.2 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 45 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 AACAGGGCAGAAGAAGTCTTA 0.478 6 14 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33324502 33324502 + Missense_Mutation SNP G G A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr20:33324502G>A ENST00000374796.2 - 13 8524 c.5954C>T c.(5953-5955)gCc>gTc p.A1985V NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1985 EP300/CRSP3-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 ACCTGGTCTGGCAACAGAGGC 0.453 3 52 --- --- --- --- GGT7 2686 broad.mit.edu 37 20 33440316 33440316 + Missense_Mutation SNP C C A TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chr20:33440316C>A ENST00000336431.5 - 11 1389 c.1345G>T c.(1345-1347)Ggc>Tgc p.G449C NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 449 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TTGATATGGCCCCGGAGGTAG 0.582 9 48 --- --- --- --- ITIH6 347365 broad.mit.edu 37 X 54783701 54783701 + Missense_Mutation SNP G G T TCGA-2A-A8VL-01A-21D-A377-08 TCGA-2A-A8VL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b47c9044-6b22-4de5-bb95-8f1114d63b96 58fd9726-f7b9-4e5a-8e51-73a8971a1317 g.chrX:54783701G>T ENST00000218436.6 - 8 2835 c.2806C>A c.(2806-2808)Ccc>Acc p.P936T NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 936 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTTCCAGGGGGCAGAGTGGGA 0.562 11 13 --- --- --- ---