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 ATRX 546 broad.mit.edu 37 X 76875970 76875970 + Missense_Mutation SNP T T C TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chrX:76875970T>C ENST00000373344.5 - 20 5379 c.5165A>G c.(5164-5166)cAt>cGt p.H1722R ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.H1684R NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1722 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTTAGAATATGGCCTTCATC 0.294000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 4 7 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150815375 150815375 + Missense_Mutation SNP C C A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr7:150815375C>A ENST00000397238.2 + 6 785 c.785C>A c.(784-786)aCc>aAc p.T262N AGAP3_ENST00000473312.1_Missense_Mutation_p.T262N|AGAP3_ENST00000463381.1_Missense_Mutation_p.T34N|AGAP3_ENST00000479901.1_Missense_Mutation_p.T262N|AGAP3_ENST00000335367.3_Missense_Mutation_p.T442N|AGAP3_ENST00000476375.1_3'UTR NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 226 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 AAGCGGTGCACCTACTATGAG 0.642000 33 94 4.34311e-12 5.24168e-12 1 1 0 CLCNKA 0 broad.mit.edu 37 1 16359720 16359720 + Missense_Mutation SNP G G A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr1:16359720G>A ENST00000375692.1 + 20 2110 c.1982G>A c.(1981-1983)gGc>gAc p.G661D CLCNKA_ENST00000331433.4_Missense_Mutation_p.G662D|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G619D|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G661D P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 662 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.G662V(1) breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ACATCGCGGGGCAGAGCTGTG 0.607000 OREG0013132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 231 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44853776 44853776 + Missense_Mutation SNP C C A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr3:44853776C>A ENST00000326047.4 + 18 2421 c.2272C>A c.(2272-2274)Cag>Aag p.Q758K KIF15_ENST00000425755.1_Missense_Mutation_p.Q393K NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 758 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TACCCAAATGCAGGAGGTGAG 0.423000 3 39 1 1 1 1 0 PSMG1 8624 broad.mit.edu 37 21 40552362 40552362 + Splice_Site SNP G G C TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr21:40552362G>C ENST00000331573.3 - 3 707 c.241_splice c.e3-1 p.A81_splice PSMG1_ENST00000380900.2_Splice_Site_p.A81_splice NM_001261824.1|NM_003720.3 NP_001248753.1|NP_003711.1 O95456 PSMG1_HUMAN proteasome (prosome, macropain) assembly chaperone 1 81 proteasome assembly endoplasmic reticulum protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2) 8 Prostate(19;8.44e-08) TGACAGAAATGCTGTAAAAAA 0.358000 20 57 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704261 52704261 + Missense_Mutation SNP A A G TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr1:52704261A>G ENST00000287727.3 + 4 1344 c.1172A>G c.(1171-1173)gAg>gGg p.E391G ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E391G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E391G|ZFYVE9_ENST00000361625.1_Missense_Mutation_p.E391G NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 391 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 AATATGACAGAGCATTTCTCT 0.363000 15 83 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 3 10 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89874847 89874847 + Missense_Mutation SNP G G T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr7:89874847G>T ENST00000389297.4 + 1 360 c.109G>T c.(109-111)Gat>Tat p.D37Y C7orf63_ENST00000497910.1_Missense_Mutation_p.D37Y|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.D37Y NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 37 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 GACGGAGGACGATGAGGCGCA 0.627000 4 173 0.00116845 0.00131921 1 1 0 OR5M10 390167 broad.mit.edu 37 11 56344882 56344882 + Missense_Mutation SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr11:56344882C>T ENST00000526812.2 - 1 381 c.316G>A c.(316-318)Gcc>Acc p.A106T NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ATCACTAGGGCGATGAAGAGA 0.438000 14 61 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90178874 90178874 + Missense_Mutation SNP A A G TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr1:90178874A>G ENST00000370454.4 + 3 1000 c.745A>G c.(745-747)Agg>Ggg p.R249G RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 249 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) GAAGAAGTTCAGGCTGCATGT 0.403000 4 96 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101797192 101797192 + Missense_Mutation SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr13:101797192C>T ENST00000251127.6 - 16 1976 c.1895G>A c.(1894-1896)cGa>cAa p.R632Q NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 632 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTCAAAGATTCGCAGGCGTAA 0.348000 89 187 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50886773 50886773 + Missense_Mutation SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr15:50886773C>T ENST00000313478.7 - 24 3609 c.3328G>A c.(3328-3330)Gta>Ata p.V1110I TRPM7_ENST00000560955.1_Missense_Mutation_p.V1110I NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1110 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TACTTCCATACAATATTGGAA 0.299000 14 19 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76074431 76074431 + RNA SNP C C T rs149323153 by1000genomes TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr15:76074431C>T ENST00000395215.3 + 0 610 p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 4 32 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 28 49 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530285 80530285 + Missense_Mutation SNP G G C TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr2:80530285G>C ENST00000295057.3 - 2 1316 c.660C>G c.(658-660)gaC>gaG p.D220E CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D220E NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 220 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 CCTTGACCAAGTCGTTGTGCT 0.572000 HNSCC(69;0.2) 11 124 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171520 207171520 + Silent SNP G G A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr2:207171520G>A ENST00000374423.3 + 5 2654 c.2268G>A c.(2266-2268)ccG>ccA p.P756P NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 756 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 ATTCTGACCCGCCTCTTCTGT 0.418000 4 197 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61644404 61644404 + Missense_Mutation SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr11:61644404C>T ENST00000540820.1 - 8 989 c.917G>A c.(916-918)cGc>cAc p.R306H FADS3_ENST00000527697.1_Missense_Mutation_p.R182H|FADS3_ENST00000525588.1_Missense_Mutation_p.R278H|FADS3_ENST00000278829.2_Missense_Mutation_p.R306H Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 306 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TAAGAAGAAGCGGGCATAGAA 0.622000 3 5 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 312148 312148 + Silent SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr16:312148C>T ENST00000399932.3 + 7 1216 c.765C>T c.(763-765)agC>agT p.S255S ITFG3_ENST00000442458.2_Silent_p.S255S|ITFG3_ENST00000450082.2_Silent_p.S255S|ITFG3_ENST00000301678.3_Silent_p.S255S|ITFG3_ENST00000301679.2_Silent_p.S255S|ITFG3_ENST00000600536.1_Silent_p.S255S Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 255 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) TCAGAGGCAGCCTTGGTGTGG 0.587000 17 33 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541829 55541829 + Missense_Mutation SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr8:55541829C>T ENST00000220676.1 + 4 5535 c.5387C>T c.(5386-5388)aCg>aTg p.T1796M NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1796 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.T1796M(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCAGGCCCAACGATGGATGAA 0.448000 8 12 0 0 1 0 0 NEURL 0 broad.mit.edu 37 10 105331484 105331484 + Missense_Mutation SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr10:105331484C>T ENST00000369780.4 + 3 963 c.554C>T c.(553-555)tCg>tTg p.S185L NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.S168L NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 185 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) ATCAACGACTCGGCTGTTATG 0.632000 11 51 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55598323 55598323 + Silent SNP C C A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr1:55598323C>A ENST00000294383.6 - 31 3431 c.3432G>T c.(3430-3432)ctG>ctT p.L1144L USP24_ENST00000407756.1_Silent_p.L984L NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1144 Ser-rich. ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GCTTTGATGACAGGGATGGAG 0.393000 3 40 0.004672 0.00511 1 1 0 PAG1 55824 broad.mit.edu 37 8 81897059 81897059 + Silent SNP C C T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr8:81897059C>T ENST00000220597.4 - 7 1538 c.828G>A c.(826-828)ggG>ggA p.G276G NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 276 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) CCGCCTCTCCCCCTTCCTTCT 0.502000 5 107 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179470238 179470238 + Missense_Mutation SNP A A T TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr2:179470238A>T ENST00000589042.1 - 279 54008 c.53784T>A c.(53782-53784)gaT>gaA p.D17928E TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9055E|TTN_ENST00000460472.2_Missense_Mutation_p.D8863E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8988E|TTN_ENST00000342992.6_Missense_Mutation_p.D15360E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16287E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16287 Fibronectin type-III 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTGGTGTTCATCAAGATTTT 0.393000 17 114 0 0 1 0 0 LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 3 6 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38020014 38020014 + Frame_Shift_Del DEL A A - TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr4:38020014delA ENST00000261439.4 + 4 1277 c.922delA c.(922-924)aafs p.K309fs TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 309 PID. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCCTGACACCAAAAAAATAGC 0.313 7 122 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 9 195 --- --- --- --- PEX1 5189 broad.mit.edu 37 7 92146721 92146721 + Frame_Shift_Del DEL T T - TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr7:92146721delT ENST00000248633.4 - 5 1203 c.1108delA c.(1108-1110)ttfs p.I370fs PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000541751.1_5'UTR NM_000466.2 NP_000457.1 O43933 PEX1_HUMAN peroxisomal biogenesis factor 1 370 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCTGACCTAATTTTTTTTTGA 0.353 12 284 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 7 133 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014173 56014174 + RNA DEL AG AG - rs72015246 TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr14:56014173_56014174delAG ENST00000554558.1 - 0 364 aaaaaaaaaaagaaTTGGCACA 0.446 5 9 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57523450 57523451 + Frame_Shift_Ins INS - - GCAA TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr15:57523450_57523451insGCAA ENST00000267811.5 + 9 984_985 c.680_681insGCAA c.(679-681)acafs p.T227fs TCF12_ENST00000333725.5_Frame_Shift_Ins_p.T227fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.Q38fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.T57fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.T227fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.T227fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.T57fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.T223fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 227 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ACTTTCTTTATGCAAGGTAAGT 0.386 T TEC extraskeletal myxoid chondrosarcoma 52 129 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579323 7579324 + Frame_Shift_Ins INS - - A TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chr17:7579323_7579324insA ENST00000420246.2 - 4 495_496 c.363_364insT c.(361-366)tctgacfs p.D122fs TP53_ENST00000455263.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.D122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D122fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 122 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGCAAGTCACAGACTTGGCTG 0.559 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 68 33 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363105 153363105 + Frame_Shift_Del DEL G G - TCGA-DB-A75O-01A-11D-A32B-08 TCGA-DB-A75O-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90e96e37-0f23-40b7-8277-527e8d8f0b76 b058749c-362f-4a5f-b0f7-4ab4ec256649 g.chrX:153363105delG ENST00000453960.2 - 1 72 c.18delC c.(16-18)gcfs p.A8fs MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR NM_001110792.1 NP_001104262.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCGGCgcggcggcggcggcgg 0.771 2 4 --- --- --- ---