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 MOB3C 148932 broad.mit.edu 37 1 47075780 47075780 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:47075780C>T ENST00000371940.1 - 2 3658 c.584G>A c.(583-585)aGc>aAc p.S195N MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000319928.3_Missense_Mutation_p.S172N|MOB3C_ENST00000271139.8_Missense_Mutation_p.S224N Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 172 metal ion binding GCTGAGGATGCTATCGAAGTG 0.557000 4 95 0 0 1 0 0 ZNF696 79943 broad.mit.edu 37 8 144378438 144378438 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr8:144378438G>A ENST00000330143.3 + 3 1002 c.593G>A c.(592-594)cGg>cAg p.R198Q NM_030895.2 NP_112157.2 Q9H7X3 ZN696_HUMAN zinc finger protein 696 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 8 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) AACCTCCTCCGGCACCAGCGC 0.731000 3 15 0 0 1 0 0 RP11-69H14.6 0 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 6 332 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 4 111 0 0 1 0 0 APBB1IP 54518 broad.mit.edu 37 10 26785235 26785235 + Silent SNP T T C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr10:26785235T>C ENST00000376236.4 + 4 530 c.75T>C c.(73-75)agT>agC p.S25S APBB1IP_ENST00000356785.4_Silent_p.S25S NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 25 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 TTTCACAGAGTTTAGGAGTTG 0.378000 4 61 0 0 1 0 0 PFKFB4 5210 broad.mit.edu 37 3 48573816 48573816 + Missense_Mutation SNP A A G TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr3:48573816A>G ENST00000232375.3 - 8 825 c.713T>C c.(712-714)aTc>aCc p.I238T PFKFB4_ENST00000383734.2_Missense_Mutation_p.I238T|PFKFB4_ENST00000416568.1_Missense_Mutation_p.I238T|PFKFB4_ENST00000541519.1_Missense_Mutation_p.I204T|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000536104.1_Missense_Mutation_p.I227T NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 238 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GTAATATACGATGCGGCTCTG 0.577000 24 98 0 0 1 0 0 IGFBP6 3489 broad.mit.edu 37 12 53494618 53494618 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:53494618G>A ENST00000548547.1 + 2 733 c.451G>A c.(451-453)Gcg>Acg p.A151T IGFBP6_ENST00000301464.3_Missense_Mutation_p.A153T|IGFBP6_ENST00000549628.1_3'UTR P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 153 negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GCCCAATTCTGCGGGTGTCCA 0.602000 14 66 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392554 178392554 + Silent SNP T T G TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr5:178392554T>G ENST00000320129.3 + 5 1452 c.1149T>G c.(1147-1149)ccT>ccG p.P383P ZNF454_ENST00000519564.1_Silent_p.P383P NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) GAGAGAAACCTTATAAATGTA 0.413000 10 62 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 5 35 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59500983 59500983 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr15:59500983C>T ENST00000288235.4 - 14 1826 c.1427G>A c.(1426-1428)gGg>gAg p.G476E NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 476 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CTGATCTGCCCCCTCACCCAC 0.537000 13 54 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535901 69535901 + Missense_Mutation SNP A A T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:69535901A>T ENST00000338206.5 - 1 445 c.436T>A c.(436-438)Ttt>Att p.F146I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 146 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ATGACATCAAACTTTGACTCT 0.373000 12 307 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871016 170871016 + Silent SNP G G A rs71792519 TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:170871016G>A ENST00000392092.2 + 3 471 c.192G>A c.(190-192)caG>caA p.Q64Q TBP_ENST00000540980.1_Silent_p.Q44Q|TBP_ENST00000230354.6_Silent_p.Q64Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 64 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacaacaacagcagcagcagc 0.557000 4 39 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 73 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 3 35 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83636156 83636156 + Missense_Mutation SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr16:83636156T>A ENST00000566620.1 + 8 1348 c.1058T>A c.(1057-1059)aTc>aAc p.I353N CDH13_ENST00000268613.10_Missense_Mutation_p.I400N|CDH13_ENST00000428848.3_Missense_Mutation_p.I314N NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 353 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ACGATCATGATCGATGACAAA 0.453000 34 115 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201499584 201499584 + Silent SNP A A G TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr2:201499584A>G ENST00000374700.2 + 21 2533 c.2292A>G c.(2290-2292)ggA>ggG p.G764G AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 764 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) TTCCCAAGGGAGAGGATCAAG 0.413000 3 51 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21705426 21705426 + Silent SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr18:21705426G>T ENST00000540918.2 + 5 661 c.411G>T c.(409-411)gcG>gcT p.A137A TTC39C_ENST00000317571.3_Silent_p.A444A|TTC39C_ENST00000304621.6_Silent_p.A383A Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 444 binding p.A383A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 CAACCAAAGCGCTCTGTGTGT 0.408000 9 80 0.00829132 0.00875195 1 1 0 MEGF11 84465 broad.mit.edu 37 15 66215182 66215182 + Nonsense_Mutation SNP G G A rs142480684 byFrequency TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr15:66215182G>A ENST00000409699.2 - 14 1973 c.1801C>T c.(1801-1803)Cga>Tga p.R601* MEGF11_ENST00000395625.2_Nonsense_Mutation_p.R526*|MEGF11_ENST00000288745.3_Nonsense_Mutation_p.R526*|MEGF11_ENST00000360698.4_Nonsense_Mutation_p.R601*|MEGF11_ENST00000422354.1_Nonsense_Mutation_p.R601*|MEGF11_ENST00000395614.1_5'UTR A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 601 EGF-like 10. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 AAGGGTCCTCGGAAGCCAGGG 0.617000 3 33 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95562162 95562162 + Splice_Site SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr14:95562162C>T ENST00000526495.1 - 25 5386 c.5095_splice c.e25+1 p.D1699_splice DICER1_ENST00000541352.1_Splice_Site_p.D1699_splice|DICER1_ENST00000343455.3_Splice_Site_p.D1699_splice|DICER1_ENST00000556045.1_Splice_Site_p.D597_splice|DICER1_ENST00000527414.1_Splice_Site_p.D1699_splice|DICER1_ENST00000393063.1_Splice_Site_p.D1699_splice Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1699 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GGCTCCTTACCAGTGATAGTA 0.393000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 6 50 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 132 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197791205 197791205 + Missense_Mutation SNP G G C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr2:197791205G>C ENST00000354764.3 - 1 250 c.136C>G c.(136-138)Ccg>Gcg p.P46A PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.P46A NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 46 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 TGATACTCCGGGTACTCAAAC 0.542000 7 212 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106858474 106858474 + Missense_Mutation SNP G G C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr9:106858474G>C ENST00000286398.7 + 3 502 c.214G>C c.(214-216)Gct>Cct p.A72P SMC2_ENST00000303219.8_Missense_Mutation_p.A72P|SMC2_ENST00000374787.3_Missense_Mutation_p.A72P|SMC2_ENST00000374793.3_Missense_Mutation_p.A72P NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 72 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 AAATGGGCAGGCTGGTATTAC 0.343000 22 77 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21800707 21800707 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr22:21800707C>T ENST00000443632.2 + 2 1895 c.1523C>T c.(1522-1524)tCg>tTg p.S508L HIC2_ENST00000407598.2_Missense_Mutation_p.S508L|HIC2_ENST00000407464.2_Missense_Mutation_p.S508L Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 508 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) TTCAAGTGTTCGGTCTGCGAG 0.652000 15 23 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 5 97 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81113578 81113578 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr10:81113578G>A ENST00000225174.3 + 6 675 c.604G>A c.(604-606)Gac>Aac p.D202N PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 202 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) TGTCATCACAGACTGTGGCCA 0.537000 6 40 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 47 0.150653 0.150653 1 1 0 OR2A4 79541 broad.mit.edu 37 6 132021829 132021829 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:132021829C>T ENST00000315453.2 - 1 806 c.713G>A c.(712-714)cGc>cAc p.R238H ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron NM_030908.1 NP_112170.1 O95047 OR2A4_HUMAN olfactory receptor, family 2, subfamily A, member 4 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1)|skin(1) 3 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041) GAAGCAGGTGCGGAAGGCTTT 0.488000 11 133 0 0 1 0 0 TRIM49C 642612 broad.mit.edu 37 11 89774252 89774252 + Missense_Mutation SNP G G A rs145791878 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr11:89774252G>A ENST00000448984.1 + 8 1222 c.893G>A c.(892-894)aGt>aAt p.S298N TRIM49C_ENST00000432771.1_Intron NM_001195234.1 NP_001182163.1 P0CI26 T49L2_HUMAN tripartite motif containing 49C 298 B30.2/SPRY. intracellular zinc ion binding p.S298N(4) endometrium(3)|kidney(1)|lung(4) 8 GAAGCCAACAGTGATATCTTT 0.323000 4 76 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 3 54 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35810383 35810383 + Splice_Site SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:35810383T>A ENST00000373825.2 - 14 1906 c.e14-2 SRPK1_ENST00000423325.2_Splice_Site|SRPK1_ENST00000373822.1_Splice_Site Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.?(2) endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 TTCAAAGGCCTAAAAAAAAAA 0.418000 3 29 0 0 1 0 0 BMP5 653 broad.mit.edu 37 6 55684508 55684508 + Nonsense_Mutation SNP C C A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:55684508C>A ENST00000370830.3 - 2 1326 c.628G>T c.(628-630)Gaa>Taa p.E210* BMP5_ENST00000446683.2_Nonsense_Mutation_p.E210* NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 210 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) GTTTCATTTTCAAATCGGTTG 0.328000 24 79 5.35356e-11 6.10306e-11 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1101_splice c.e13-1 p.L368_splice POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 6 20 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76980034 76980034 + Missense_Mutation SNP A A C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr11:76980034A>C ENST00000315938.4 - 8 809 c.559T>G c.(559-561)Tgc>Ggc p.C187G GDPD4_ENST00000376217.2_Missense_Mutation_p.C187G NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 187 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 TCCTGAATGCAGGGAGAATAA 0.438000 53 94 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135918 156135918 + Missense_Mutation SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:156135918T>A ENST00000329476.3 + 2 1316 c.827T>A c.(826-828)gTg>gAg p.V276E NPY2R_ENST00000506608.1_Missense_Mutation_p.V276E NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 276 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GTGGTGGTGGTGTTTGCGGTC 0.512000 7 33 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110774894 110774894 + Missense_Mutation SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:110774894G>T ENST00000369787.3 + 4 1898 c.1871G>T c.(1870-1872)tGc>tTc p.C624F KCNC4_ENST00000413138.3_Intron|KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 624 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGGCTGCATGCCCTCCAACT 0.547000 3 11 0.115264 0.117322 1 1 0 POLR2B 5431 broad.mit.edu 37 4 57856954 57856954 + Missense_Mutation SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:57856954G>T ENST00000381227.1 + 4 546 c.133G>T c.(133-135)Gat>Tat p.D45Y POLR2B_ENST00000441246.2_Missense_Mutation_p.D38Y|POLR2B_ENST00000314595.5_Missense_Mutation_p.D45Y|POLR2B_ENST00000431623.2_Intron P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 45 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) ACAACAGCTGGATTCTTTTGA 0.408000 30 96 3.00307e-07 3.35637e-07 1 1 0 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr17:7578526C>T ENST00000420246.2 - 5 536 c.404G>A c.(403-405)tGc>tAc p.C135Y TP53_ENST00000455263.2_Missense_Mutation_p.C135Y|TP53_ENST00000269305.4_Missense_Mutation_p.C135Y|TP53_ENST00000359597.4_Missense_Mutation_p.C135Y|TP53_ENST00000445888.2_Missense_Mutation_p.C135Y|TP53_ENST00000413465.2_Missense_Mutation_p.C135Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 135 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP). 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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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) GGCCAGTTGGCAAAACATCTT 0.572000 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) 10 19 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215342562 215342562 + Missense_Mutation SNP C C T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:215342562C>T ENST00000444842.2 + 4 646 c.496C>T c.(496-498)Cgc>Tgc p.R166C KCNK2_ENST00000391895.2_Missense_Mutation_p.R162C|KCNK2_ENST00000391894.2_Missense_Mutation_p.R151C NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 166 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CATCTCACCACGCACAGAAGG 0.368000 21 74 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43430101 43430101 + RNA SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr19:43430101G>A ENST00000446844.3 - 0 1156 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GTTAGAGTCCGCAAAGCAGGA 0.448000 4 150 0 0 1 0 0 CFLAR 8837 broad.mit.edu 37 2 202025331 202025331 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr2:202025331G>A ENST00000309955.2 + 9 1485 c.970G>A c.(970-972)Gtg>Atg p.V324M CFLAR_ENST00000479953.2_Missense_Mutation_p.V228M|CFLAR_ENST00000341582.6_Missense_Mutation_p.V289M|CFLAR_ENST00000457277.1_Missense_Mutation_p.V324M|CFLAR_ENST00000423241.2_Missense_Mutation_p.V324M|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000340870.5_Missense_Mutation_p.V324M|CFLAR_ENST00000443227.1_Missense_Mutation_p.V228M NM_003879.5 NP_003870.4 O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 324 Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 TGTGTATGGTGTGGATCAGAC 0.522000 14 75 0 0 1 0 0 RNF215 200312 broad.mit.edu 37 22 30780470 30780470 + Missense_Mutation SNP G G A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr22:30780470G>A ENST00000382363.3 - 5 676 c.602C>T c.(601-603)aCg>aTg p.T201M NM_001017981.1 NP_001017981.1 Q9Y6U7 RN215_HUMAN ring finger protein 215 201 integral to membrane zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2) 6 GATCTCAGCCGTGGCCTGGGT 0.617000 6 27 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325904 158325904 + Missense_Mutation SNP C C A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:158325904C>A ENST00000434258.1 + 4 918 c.907C>A c.(907-909)Cag>Aag p.Q303K CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000452291.2_Intron P15812 CD1E_HUMAN CD1e molecule 0 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) GGGTGAGAAACAGCTGAGGCT 0.532000 7 38 0.0293803 0.0304487 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38877389 38877389 + Silent SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:38877389G>T ENST00000359357.3 + 63 9212 c.8958G>T c.(8956-8958)ctG>ctT p.L2986L DNAH8_ENST00000449981.2_Silent_p.L3203L|DNAH8_ENST00000441566.1_Silent_p.L2950L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGGAGGCTCTGATTGCTGTGG 0.453000 5 74 1.23904e-05 1.35818e-05 1 1 0 CIRH1A 84916 broad.mit.edu 37 16 69194341 69194341 + Missense_Mutation SNP T T A TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr16:69194341T>A ENST00000563094.1 + 13 1561 c.1527T>A c.(1525-1527)caT>caA p.H509Q CIRH1A_ENST00000352319.4_Missense_Mutation_p.H394Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.H509Q Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 509 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) CTGGAGTCCATGTCTACAACG 0.478000 4 82 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 3 9 6.4e-05 6.88302e-05 1 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809302 18809302 + Silent SNP G G C TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr1:18809302G>C ENST00000400664.1 + 1 1879 c.1827G>C c.(1825-1827)ctG>ctC p.L609L NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 609 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) ACCCCCGCCTGGACCGCTGGG 0.701000 5 11 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 5 9 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 3 4 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49434822 49434822 + Frame_Shift_Del DEL A A - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr12:49434822delA ENST00000301067.7 - 31 6730 c.6731delT c.(6730-6732)tcfs p.F2244fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGTTTGAGGAATGGGTCAGG 0.662 11 41 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31291081 31291082 + RNA INS - - A rs111525555 TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr14:31291081_31291082insA ENST00000554665.1 - 0 208 AAATTAAAAAGAAAAAAAAAAC 0.312 3 6 --- --- --- --- SLC1A6 6511 broad.mit.edu 37 19 15083615 15083616 + Frame_Shift_Del DEL GC GC - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr19:15083615_15083616delGC ENST00000598504.1 - 4 1466_1467 c.107_108delGC c.(106-108)cfs p.R36fs SLC1A6_ENST00000600144.1_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000544886.2_Frame_Shift_Del_p.R36fs|SLC1A6_ENST00000430939.2_Frame_Shift_Del_p.AH40fs|SLC1A6_ENST00000221742.3_Frame_Shift_Del_p.R36fs NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 36 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GCAGGCGCGTGCGCAGTGCTCT 0.678 9 22 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42754713 42754713 + Frame_Shift_Del DEL A A - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr19:42754713delA ENST00000222329.4 - 2 184 c.27delT c.(25-27)ttfs p.F9fs ERF_ENST00000440177.2_5'UTR|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 9 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CCGGGAAGGCAAACCCTGGGG 0.637 10 13 --- --- --- --- SDCBP2 27111 broad.mit.edu 37 20 1293985 1293985 + Splice_Site DEL T T - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr20:1293985delT ENST00000360779.3 - 5 556 c.384_splice c.e5+1 p.Q128_splice SDCBP2_ENST00000381808.3_Splice_Site_p.Q43_splice|SDCBP2_ENST00000339987.3_Splice_Site_p.Q128_splice|SDCBP2_ENST00000381812.1_Splice_Site_p.Q128_splice NM_080489.4 NP_536737.3 Q9H190 SDCB2_HUMAN syndecan binding protein (syntenin) 2 128 PDZ 1. intracellular signal transduction|intracellular transport|nervous system development cytoplasm protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1) 7 GCGCCCTACCTGGTCGACCTT 0.697 2 4 --- --- --- --- MAPK12 6300 broad.mit.edu 37 22 50699875 50699875 + Frame_Shift_Del DEL C C - TCGA-YL-A8SB-01A-31D-A377-08 TCGA-YL-A8SB-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx dfa92bb2-8190-4e63-a29b-ede8b316a0cb 3ab86bdb-3bc5-4a9e-a968-afb8b9633679 g.chr22:50699875delC ENST00000215659.8 - 1 379 c.64delG c.(64-66)agfs p.E22fs MAPK12_ENST00000395778.3_Frame_Shift_Del_p.E22fs NM_002969.3 NP_002960.2 P53778 MK12_HUMAN mitogen-activated protein kinase 12 22 cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction mitochondrion|nucleoplasm ATP binding|magnesium ion binding|MAP kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCGCGCACCTCCCAGGCCGTC 0.786 2 4 --- --- --- ---