#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	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	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	20	0	0	0	1	0	17	20				
ESPL1	9700	broad.mit.edu	37	12	53682342	53682342	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:53682342G>A	ENST00000257934.4	+	20	4658	c.4567G>A	c.(4567-4569)Ggc>Agc	p.G1523S	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1523S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1523					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCAGCTCCGGGCCCTGAGGC	0.577											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(4567-4569)Ggc>Agc		extra spindle pole bodies homolog 1 (S. cerevisiae)							27.0	27.0	27.0					12																	53682342		2202	4299	6501	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53682342G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4567G>A	12.37:g.53682342G>A	ENSP00000257934:p.Gly1523Ser		OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	994	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1523S	p.G1523S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			20	4658	+			1523						Missense_Mutation	SNP	ENST00000257934.4	37	c.4567G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	8.247	0.808041	0.16467	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.10668	2.85;2.85	5.34	3.49	0.39957	.	0.970263	0.08593	N	0.922660	T	0.12689	0.0308	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.36237	-0.9756	10	0.24483	T	0.36	.	8.9139	0.35570	0.1765:0.0:0.8235:0.0	.	1523	Q14674	ESPL1_HUMAN	S	1523;1198;1523	ENSP00000257934:G1523S;ENSP00000449831:G1523S	ENSP00000257934:G1523S	G	+	1	0	ESPL1	51968609	0.020000	0.18652	0.008000	0.14137	0.002000	0.02628	1.277000	0.33167	0.722000	0.32252	0.650000	0.86243	GGC		0.577	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		4	22	0	0	0	1	0	4	22				
TTN	7273	broad.mit.edu	37	2	179579723	179579723	+	Silent	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:179579723G>A	ENST00000591111.1	-	88	25463	c.25239C>T	c.(25237-25239)atC>atT	p.I8413I	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.I7486I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.I8730I|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12585	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			CTTTGAGAGCGATGGAACCAA	0.473																																						ENST00000589042.1																			0				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						c.(26188-26190)atC>atT		titin							197.0	191.0	193.0					2																	179579723		2050	4207	6257	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579723G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25239C>T	2.37:g.179579723G>A						TTN_ENST00000591111.1_Silent_p.I8413I|TTN_ENST00000342992.6_Silent_p.I7486I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	p.I8730I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26414	-			8413			Ig-like 70.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.26190C>T																																																																																					0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	174	0	0	0	1	0	23	174				
GATA2	2624	broad.mit.edu	37	3	128204752	128204752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:128204752C>T	ENST00000341105.2	-	3	1020	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GATA2_ENST00000487848.1_Missense_Mutation_p.R230H|GATA2_ENST00000430265.2_Missense_Mutation_p.R230H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	230					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TAGGCCTGGGCGCAGGGGACT	0.642			Mis		AML(CML blast transformation)																																	ENST00000341105.2				Dom	yes		3	3q21.3	2624	Mis	GATA binding protein 2			L			AML(CML blast transformation)		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79						c.(688-690)cGc>cAc		GATA binding protein 2							131.0	122.0	125.0					3																	128204752		2203	4300	6503	SO:0001583	missense	2624				blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr3:128204752C>T	AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.689G>A	3.37:g.128204752C>T	ENSP00000345681:p.Arg230His					GATA2_ENST00000430265.2_Missense_Mutation_p.R230H|GATA2_ENST00000487848.1_Missense_Mutation_p.R230H	p.R230H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN		GBM - Glioblastoma multiforme(114;0.173)	3	1020	-			230					D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	ENST00000341105.2	37	c.689G>A	CCDS3049.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433216	0.83776	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.97378	-4.36;-4.35;-4.36	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	M	0.79926	2.475	0.80722	D	1	D;B	0.69078	0.997;0.403	P;B	0.59288	0.855;0.026	D	0.97677	1.0170	10	0.44086	T	0.13	-11.6171	14.8503	0.70292	0.0:1.0:0.0:0.0	.	230;230	P23769-2;P23769	.;GATA2_HUMAN	H	230	ENSP00000345681:R230H;ENSP00000400259:R230H;ENSP00000417074:R230H	ENSP00000345681:R230H	R	-	2	0	GATA2	129687442	0.989000	0.36119	1.000000	0.80357	0.983000	0.72400	4.289000	0.59013	2.062000	0.61559	0.484000	0.47621	CGC		0.642	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	NM_032638		7	24	0	0	0	1	0	7	24				
RAP1GDS1	5910	broad.mit.edu	37	4	99313217	99313217	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:99313217A>G	ENST00000408927.3	+	6	736	c.623A>G	c.(622-624)aAt>aGt	p.N208S	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.N209S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.N160S|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.N159S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.N209S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	208					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GCATTTGGTAATTTAGCAGAA	0.333			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(622-624)aAt>aGt		RAP1, GTP-GDP dissociation stimulator 1							110.0	103.0	105.0					4																	99313217		1843	4076	5919	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99313217A>G		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.623A>G	4.37:g.99313217A>G	ENSP00000386153:p.Asn208Ser					RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.N159S|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.N209S|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.N209S|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.N160S	p.N208S	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	6	736	+			208					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.623A>G	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.981965	0.74474	.	.	ENSG00000138698	ENST00000509011;ENST00000380158;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000408900;ENST00000339360	D;D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.048262	0.85682	D	0.000000	D	0.87075	0.6087	L	0.46157	1.445	0.58432	D	0.999994	D;D;B;B;D;B	0.57257	0.974;0.979;0.047;0.327;0.965;0.327	D;D;B;B;P;B	0.74023	0.969;0.982;0.08;0.305;0.838;0.286	D	0.83398	0.0021	10	0.13853	T	0.58	-16.9876	16.0623	0.80847	1.0:0.0:0.0:0.0	.	159;160;208;209;209;208	P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;GDS1_HUMAN;.;.;.	S	118;160;208;117;209;159;209	ENSP00000425992:N118S;ENSP00000369503:N160S;ENSP00000386153:N208S;ENSP00000424324:N117S;ENSP00000407157:N209S;ENSP00000386223:N159S;ENSP00000340454:N209S	ENSP00000340454:N209S	N	+	2	0	RAP1GDS1	99532240	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.850000	0.92190	2.196000	0.70406	0.374000	0.22700	AAT		0.333	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		19	35	0	0	0	1	0	19	35				
OR10H3	26532	broad.mit.edu	37	19	15852507	15852507	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:15852507T>A	ENST00000305892.1	+	1	305	c.305T>A	c.(304-306)aTg>aAg	p.M102K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCCATTCAGATGTTCTTCTCC	0.493																																						ENST00000305892.1																			0				cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(304-306)aTg>aAg		olfactory receptor, family 10, subfamily H, member 3							458.0	375.0	403.0					19																	15852507		2203	4300	6503	SO:0001583	missense	26532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15852507T>A		CCDS12334.1	19p13.1	2012-08-09				ENSG00000171936		"""GPCR / Class A : Olfactory receptors"""	8174	protein-coding gene	gene with protein product							Standard	NM_013938		Approved		uc010xoq.2	O60404		ENST00000305892.1:c.305T>A	19.37:g.15852507T>A	ENSP00000307130:p.Met102Lys						p.M102K	NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN			1	305	+			102					Q2HIZ3|Q6IFQ0	Missense_Mutation	SNP	ENST00000305892.1	37	c.305T>A	CCDS12334.1	.	.	.	.	.	.	.	.	.	.	.	11.13	1.549309	0.27652	.	.	ENSG00000171936	ENST00000305892	T	0.02787	4.16	2.35	1.28	0.21552	GPCR, rhodopsin-like superfamily (1);	0.135474	0.32970	U	0.005430	T	0.09379	0.0231	M	0.92738	3.34	0.25104	N	0.990761	D	0.52996	0.957	P	0.49226	0.603	T	0.11179	-1.0598	10	0.87932	D	0	.	5.5994	0.17345	0.0:0.1538:0.0:0.8462	.	102	O60404	O10H3_HUMAN	K	102	ENSP00000307130:M102K	ENSP00000307130:M102K	M	+	2	0	OR10H3	15713507	0.969000	0.33509	0.908000	0.35775	0.294000	0.27393	2.511000	0.45476	0.158000	0.19367	0.155000	0.16302	ATG		0.493	OR10H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460918.1			30	352	0	0	0	1	0	30	352				
PLXNB2	23654	broad.mit.edu	37	22	50728700	50728700	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr22:50728700G>A	ENST00000449103.1	-	3	454	c.314C>T	c.(313-315)cCc>cTc	p.P105L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P105L			O15031	PLXB2_HUMAN	plexin B2	105	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		GCGCTTCCTGGGAGGGTCGAG	0.637																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(313-315)cCc>cTc		plexin B2							34.0	41.0	38.0					22																	50728700		2061	4200	6261	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50728700G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.314C>T	22.37:g.50728700G>A	ENSP00000409171:p.Pro105Leu					PLXNB2_ENST00000359337.4_Missense_Mutation_p.P105L	p.P105L			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	454	-		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)	105			Sema.		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.314C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	8.737	0.917951	0.17982	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455;ENST00000425954	T;T;T;T	0.10288	2.89;2.89;2.89;2.89	3.97	2.93	0.34026	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.756986	0.11749	N	0.533206	T	0.11067	0.0270	L	0.57536	1.79	0.21386	N	0.999704	B	0.21821	0.061	B	0.22152	0.038	T	0.30995	-0.9959	10	0.29301	T	0.29	.	5.1694	0.15103	0.1786:0.0:0.5914:0.23	.	105	O15031	PLXB2_HUMAN	L	105	ENSP00000409171:P105L;ENSP00000352288:P105L;ENSP00000392620:P105L;ENSP00000387470:P105L	ENSP00000352288:P105L	P	-	2	0	PLXNB2	49070827	0.000000	0.05858	0.004000	0.12327	0.833000	0.47200	0.039000	0.13884	0.868000	0.35678	0.561000	0.74099	CCC		0.637	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		9	40	0	0	0	1	0	9	40				
NCKAP5	344148	broad.mit.edu	37	2	133540757	133540757	+	Silent	SNP	G	G	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:133540757G>T	ENST00000409261.1	-	14	4000	c.3627C>A	c.(3625-3627)acC>acA	p.T1209T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1209T|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1209										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AATCCGGTAGGGTCACATTTC	0.507																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3625-3627)acC>acA		NCK-associated protein 5							98.0	96.0	96.0					2																	133540757		1953	4157	6110	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540757G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3627C>A	2.37:g.133540757G>T						NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1209T|NCKAP5_ENST00000409213.1_Intron	p.T1209T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	4000	-			1209					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3627C>A	CCDS46418.1																																																																																				0.507	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		30	49	1	0	3.65163e-15	1	3.84725e-15	30	49				
SF3B2	10992	broad.mit.edu	37	11	65835634	65835634	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:65835634G>A	ENST00000322535.6	+	21	2495	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	RP11-1167A19.2_ENST00000529036.1_Intron|PACS1_ENST00000320580.4_5'Flank|SF3B2_ENST00000528302.1_Missense_Mutation_p.G799S	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	816					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.G816S(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAGCCGGAAGGGCCCGGCTCC	0.572											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000528302.1																			1	Substitution - Missense(1)	p.G816S(1)	skin(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2395-2397)Ggc>Agc		splicing factor 3b, subunit 2, 145kDa							47.0	52.0	51.0					11																	65835634		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65835634G>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2446G>A	11.37:g.65835634G>A	ENSP00000318861:p.Gly816Ser		OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	RP11-1167A19.2_ENST00000529036.1_Intron|SF3B2_ENST00000322535.6_Missense_Mutation_p.G816S	p.G799S			Q13435	SF3B2_HUMAN			20	2449	+			816					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.2395G>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936510	0.73442	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456	.	.	.	5.8	5.8	0.92144	.	0.100027	0.64402	D	0.000001	T	0.47266	0.1436	L	0.41079	1.255	0.80722	D	1	P	0.39216	0.664	B	0.30401	0.115	T	0.45145	-0.9281	9	0.33141	T	0.24	-5.3952	17.5707	0.87933	0.0:0.0:1.0:0.0	.	816	Q13435	SF3B2_HUMAN	S	799;816;720	.	ENSP00000318861:G816S	G	+	1	0	SF3B2	65592210	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.371000	0.59523	2.755000	0.94549	0.555000	0.69702	GGC		0.572	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			9	74	0	0	0	1	0	9	74				
NIPAL1	152519	broad.mit.edu	37	4	48035065	48035065	+	Missense_Mutation	SNP	G	G	T	rs200418496	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr4:48035065G>T	ENST00000295461.5	+	4	492	c.426G>T	c.(424-426)ttG>ttT	p.L142F	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	142						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						CTGCCACCTTGGTCACCCCTC	0.428																																						ENST00000295461.5																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						c.(424-426)ttG>ttT		NIPA-like domain containing 1							86.0	78.0	80.0					4																	48035065		2203	4300	6503	SO:0001583	missense	152519					integral to membrane		g.chr4:48035065G>T	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.426G>T	4.37:g.48035065G>T	ENSP00000295461:p.Leu142Phe					NIPAL1_ENST00000508180.1_3'UTR	p.L142F	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN			4	492	+			142					B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	c.426G>T	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107555	0.77096	.	.	ENSG00000163293	ENST00000295461	D	0.95205	-3.64	5.4	4.56	0.56223	.	0.000000	0.64402	D	0.000015	D	0.98012	0.9345	H	0.97186	3.955	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98395	1.0565	10	0.87932	D	0	.	11.3419	0.49537	0.1589:0.0:0.8411:0.0	.	142	Q6NVV3	NIPA3_HUMAN	F	142	ENSP00000295461:L142F	ENSP00000295461:L142F	L	+	3	2	NIPAL1	47729822	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.354000	0.34056	1.405000	0.46838	0.585000	0.79938	TTG		0.428	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330		29	34	1	0	3.80469e-20	1	4.0814e-20	29	34				
NBEA	26960	broad.mit.edu	37	13	36242525	36242525	+	Silent	SNP	C	C	T	rs368738439		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:36242525C>T	ENST00000400445.3	+	57	9153	c.8619C>T	c.(8617-8619)gaC>gaT	p.D2873D	NBEA_ENST00000537702.1_Silent_p.D666D|NBEA_ENST00000540320.1_Silent_p.D2873D|NBEA_ENST00000310336.4_Silent_p.D2873D|NBEA_ENST00000379922.3_Silent_p.D451D|NBEA_ENST00000379939.2_Silent_p.D2870D	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2873					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAGCAGTGACGGCCAGAACC	0.433													T|||	1	0.000199681	0.0	0.0	5008	,	,		18378	0.001		0.0	False		,,,				2504	0.0					ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(8617-8619)gaC>gaT		neurobeachin		T	,	1,3765		0,1,1882	41.0	41.0	41.0		1998,8619	0.6	1.0	13		41	1,8227		0,1,4113	no	coding-synonymous,coding-synonymous	NBEA	NM_001204197.1,NM_015678.4	,	0,2,5995	TT,TC,CC		0.0122,0.0266,0.0167	,	666/740,2873/2947	36242525	2,11992	1883	4114	5997	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36242525C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8619C>T	13.37:g.36242525C>T						NBEA_ENST00000379922.3_Silent_p.D451D|NBEA_ENST00000400445.3_Silent_p.D2873D|NBEA_ENST00000379939.2_Silent_p.D2870D|NBEA_ENST00000310336.4_Silent_p.D2873D|NBEA_ENST00000537702.1_Silent_p.D666D	p.D2873D			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	57	9153	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2873					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.8619C>T	CCDS45026.1																																																																																				0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		8	9	0	0	0	1	0	8	9				
SRP54-AS1	100506157	broad.mit.edu	37	14	35409214	35409214	+	RNA	SNP	T	T	C	rs1967723	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:35409214T>C	ENST00000556355.1	-	0	257				RP11-85K15.2_ENST00000555015.1_RNA																							CAACTTCTAATTCATCTCGCC	0.448													C|||	1527	0.304912	0.2837	0.2824	5008	,	,		21625	0.37		0.2704	False		,,,				2504	0.318					ENST00000556355.1																			0																																																			0							g.chr14:35409214T>C																													14.37:g.35409214T>C						RP11-85K15.2_ENST00000555015.1_RNA								0	257	-									RNA	SNP	ENST00000556355.1	37																																																																																						0.448	RP11-85K15.2-004	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000410682.2			8	68	0	0	0	1	0	8	68				
USP6	9098	broad.mit.edu	37	17	5076164	5076164	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:5076164T>C	ENST00000574788.1	+	38	6342	c.4112T>C	c.(4111-4113)aTa>aCa	p.I1371T	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.I1054T|USP6_ENST00000250066.6_Missense_Mutation_p.I1371T			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1371					cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGCAGGGGATAGACTACGCA	0.423			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(4111-4113)aTa>aCa		ubiquitin specific peptidase 6 (Tre-2 oncogene)							144.0	131.0	135.0					17																	5076164		2203	4297	6500	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5076164T>C	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.4112T>C	17.37:g.5076164T>C	ENSP00000460380:p.Ile1371Thr					USP6_ENST00000304328.5_Missense_Mutation_p.I1054T|USP6_ENST00000250066.6_Missense_Mutation_p.I1371T|USP6_ENST00000332776.4_3'UTR	p.I1371T			P35125	UBP6_HUMAN			38	6342	+			1371					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.4112T>C	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	T	11.12	1.543873	0.27563	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13420	3.0;2.59	2.35	2.35	0.29111	.	0.156624	0.56097	D	0.000035	T	0.09905	0.0243	L	0.38175	1.15	0.35179	D	0.772259	P;P	0.45531	0.799;0.86	B;B	0.39258	0.295;0.237	T	0.24835	-1.0149	10	0.51188	T	0.08	.	8.2513	0.31724	0.0:0.0:0.0:1.0	.	1054;1371	P35125-2;P35125	.;UBP6_HUMAN	T	1371;1054	ENSP00000250066:I1371T;ENSP00000305473:I1054T	ENSP00000250066:I1371T	I	+	2	0	USP6	5016888	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	5.782000	0.68973	1.080000	0.41073	0.155000	0.16302	ATA		0.423	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		15	126	0	0	0	1	0	15	126				
HNF1B	6928	broad.mit.edu	37	17	36093661	36093661	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:36093661C>T	ENST00000225893.4	-	3	1059	c.698G>A	c.(697-699)cGc>cAc	p.R233H	HNF1B_ENST00000560016.1_Missense_Mutation_p.R233H|HNF1B_ENST00000561193.1_Missense_Mutation_p.R207H|HNF1B_ENST00000427275.2_Missense_Mutation_p.R207H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	233					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GAACCGGTTGCGGCGCATCTT	0.567																																					Colon(71;102 1179 9001 27917 43397)	ENST00000225893.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(697-699)cGc>cAc		HNF1 homeobox B							90.0	85.0	87.0					17																	36093661		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36093661C>T	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.698G>A	17.37:g.36093661C>T	ENSP00000225893:p.Arg233His					HNF1B_ENST00000427275.2_Missense_Mutation_p.R207H|HNF1B_ENST00000560016.1_Missense_Mutation_p.R233H|HNF1B_ENST00000561193.1_Missense_Mutation_p.R207H	p.R233H	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		3	1059	-		Breast(25;0.00765)|Ovarian(249;0.15)	233					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.698G>A	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340530	0.95783	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000544593;ENST00000539087	D;D	0.96885	-4.16;-4.16	5.18	5.18	0.71444	Homeobox (3);Homeodomain-like (1);	0.107189	0.64402	D	0.000005	D	0.98118	0.9379	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	P;D;P	0.74023	0.805;0.982;0.88	D	0.98883	1.0770	10	0.87932	D	0	-27.775	17.8319	0.88685	0.0:1.0:0.0:0.0	.	207;233;233	E0YMJ6;P35680-3;P35680	.;.;HNF1B_HUMAN	H	233;207;233;121	ENSP00000225893:R233H;ENSP00000412212:R207H	ENSP00000225893:R233H	R	-	2	0	HNF1B	33167774	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.320000	0.79064	2.684000	0.91462	0.591000	0.81541	CGC		0.567	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		16	99	0	0	0	1	0	16	99				
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A	rs189118400	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:40735471G>A	ENST00000373187.1	-	24	3344	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373201.1_Silent_p.C1105C|PTPRT_ENST00000373198.4_Silent_p.C1134C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373184.1_Silent_p.C1125C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582													G|||	6	0.00119808	0.0	0.0	5008	,	,		21259	0.006		0.0	False		,,,				2504	0.0					ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3409-3411)tgC>tgT		protein tyrosine phosphatase, receptor type, T							95.0	105.0	102.0					20																	40735471		2114	4235	6349	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40735471G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3345C>T	20.37:g.40735471G>A						PTPRT_ENST00000356100.2_Silent_p.C1124C|PTPRT_ENST00000373193.3_Silent_p.C1118C|PTPRT_ENST00000373187.1_Silent_p.C1115C|PTPRT_ENST00000373190.1_Silent_p.C1114C|PTPRT_ENST00000373184.1_Silent_p.C1125C|PTPRT_ENST00000373201.1_Silent_p.C1105C	p.C1137C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			25	3646	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1115			Tyrosine-protein phosphatase 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.3411C>T	CCDS42874.1																																																																																				0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			28	61	0	0	0	1	0	28	61				
C17orf47	284083	broad.mit.edu	37	17	56621138	56621138	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:56621138C>T	ENST00000321691.3	-	1	591	c.410G>A	c.(409-411)aGc>aAc	p.S137N	RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	137										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCTGACTTGCTCTCACTGCC	0.483																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(409-411)aGc>aAc		chromosome 17 open reading frame 47							140.0	124.0	129.0					17																	56621138		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621138C>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.410G>A	17.37:g.56621138C>T	ENSP00000354874:p.Ser137Asn					RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	p.S137N	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	591	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		137					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.410G>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145060	0.21288	.	.	ENSG00000181013	ENST00000321691	T	0.31769	1.48	5.68	-11.4	0.00090	.	1.679970	0.02767	N	0.119316	T	0.14874	0.0359	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.09509	-1.0671	10	0.31617	T	0.26	-0.0973	2.6963	0.05136	0.2847:0.0992:0.4056:0.2105	.	137	Q8NEP4	CQ047_HUMAN	N	137	ENSP00000354874:S137N	ENSP00000354874:S137N	S	-	2	0	C17orf47	53976137	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.558000	0.02164	-2.093000	0.00856	-0.910000	0.02820	AGC		0.483	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		33	67	0	0	0	1	0	33	67				
RELN	5649	broad.mit.edu	37	7	103216083	103216083	+	Silent	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:103216083T>C	ENST00000428762.1	-	29	4374	c.4215A>G	c.(4213-4215)ggA>ggG	p.G1405G	RELN_ENST00000424685.2_Silent_p.G1405G|RELN_ENST00000343529.5_Silent_p.G1405G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1405					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATATGTACACTCCATCTAAAC	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(4213-4215)ggA>ggG		reelin							164.0	128.0	140.0					7																	103216083		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103216083T>C		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4215A>G	7.37:g.103216083T>C						RELN_ENST00000428762.1_Silent_p.G1405G|RELN_ENST00000343529.5_Silent_p.G1405G	p.G1405G			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	29	4374	-			1405					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.4215A>G	CCDS47680.1																																																																																				0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		10	86	0	0	0	1	0	10	86				
AC002472.1	0	broad.mit.edu	37	22	21363452	21363452	+	5'Flank	SNP	A	A	G	rs378449	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr22:21363452A>G	ENST00000547793.2	-	0	0				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA																							GTTGGTGTACATGGGACACTC	0.527													G|||	3988	0.796326	0.8238	0.7536	5008	,	,		20979	0.6776		0.8588	False		,,,				2504	0.8476					ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr22:21363452A>G																													22.37:g.21363452A>G	Exception_encountered					THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA		NR_027051.1						0	1119	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.527	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				7	61	0	0	0	1	0	7	61				
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:7578206T>C	ENST00000269305.4	-	6	832	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000420246.2_Missense_Mutation_p.S215G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)	Acetylsalicylic acid(DB00945)	ACCACCACACTATGTCGAAAA	0.537		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(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						c.(643-645)Agt>Ggt	Other conserved DNA damage response genes	tumor protein p53							125.0	112.0	116.0					17																	7578206		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	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	g.chr17:7578206T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.643A>G	17.37:g.7578206T>C	ENSP00000269305:p.Ser215Gly	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)				TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G	p.S215G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	215		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.643A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	30	0	0	0	1	0	21	30				
TNRC18	84629	broad.mit.edu	37	7	5410227	5410227	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr7:5410227G>C	ENST00000430969.1	-	11	4346	c.3998C>G	c.(3997-3999)cCc>cGc	p.P1333R	TNRC18_ENST00000399537.4_Missense_Mutation_p.P1333R	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1333							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCCAGACTGGGCAGGAACTG	0.701																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(3997-3999)cCc>cGc		trinucleotide repeat containing 18							14.0	16.0	16.0					7																	5410227		2011	4148	6159	SO:0001583	missense	84629						DNA binding	g.chr7:5410227G>C	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.3998C>G	7.37:g.5410227G>C	ENSP00000395538:p.Pro1333Arg					TNRC18_ENST00000430969.1_Missense_Mutation_p.P1333R	p.P1333R			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	11	4346	-		Ovarian(82;0.142)	1333					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.3998C>G	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	G	3.150	-0.174352	0.06421	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000399544;ENST00000327499	T;T	0.12255	2.7;2.7	4.9	4.9	0.64082	.	0.228601	0.22580	N	0.058239	T	0.14874	0.0359	M	0.76328	2.33	0.37478	D	0.915869	P	0.37864	0.61	B	0.30646	0.118	T	0.08994	-1.0695	10	0.87932	D	0	.	7.5217	0.27633	0.151:0.0:0.849:0.0	.	1333	O15417	TNC18_HUMAN	R	1333;1333;388;388	ENSP00000382452:P1333R;ENSP00000395538:P1333R	ENSP00000330383:P388R	P	-	2	0	TNRC18	5376753	0.993000	0.37304	0.982000	0.44146	0.055000	0.15305	2.820000	0.48057	2.269000	0.75478	0.313000	0.20887	CCC		0.701	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	16	0	0	0	1	0	4	16				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	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). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|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). {ECO:0000269|PubMed:18772396}.|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). {ECO:0000269|PubMed:19117336}.|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). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	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	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				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	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	36	0	0	0	1	0	23	36				
CDHR2	54825	broad.mit.edu	37	5	176008572	176008572	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr5:176008572A>T	ENST00000510636.1	+	17	2321	c.2047A>T	c.(2047-2049)Atc>Ttc	p.I683F	CDHR2_ENST00000506348.1_Missense_Mutation_p.I683F|CDHR2_ENST00000261944.5_Missense_Mutation_p.I683F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	683	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CAATGTCACCATCACTGTGGA	0.627																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(2047-2049)Atc>Ttc		cadherin-related family member 2							50.0	51.0	51.0					5																	176008572		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176008572A>T	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.2047A>T	5.37:g.176008572A>T	ENSP00000424565:p.Ile683Phe					CDHR2_ENST00000261944.5_Missense_Mutation_p.I683F|CDHR2_ENST00000506348.1_Missense_Mutation_p.I683F	p.I683F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			17	2321	+			683			Cadherin 6.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.2047A>T	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.712802	0.68730	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.69561	-0.41;-0.41;-0.41	5.47	5.47	0.80525	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85199	0.5642	H	0.95004	3.61	0.58432	D	0.999997	D	0.89917	1.0	D	0.76071	0.987	D	0.87972	0.2737	9	0.56958	D	0.05	-43.8561	11.0429	0.47842	0.8609:0.0:0.0:0.1391	.	683	Q9BYE9	CDHR2_HUMAN	F	683	ENSP00000424565:I683F;ENSP00000261944:I683F;ENSP00000421078:I683F	ENSP00000261944:I683F	I	+	1	0	CDHR2	175941178	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	2.007000	0.40883	2.082000	0.62665	0.448000	0.29417	ATC		0.627	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	43	0	0	0	1	0	6	43				
C1orf159	54991	broad.mit.edu	37	1	1019628	1019628	+	Missense_Mutation	SNP	G	G	A	rs529330622		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:1019628G>A	ENST00000379339.1	-	11	925	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000448924.1_Missense_Mutation_p.R239W|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000294576.5_Missense_Mutation_p.R203W|C1orf159_ENST00000379320.1_Missense_Mutation_p.R203W			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	239	Pro-rich.					integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AGGGGTGGCCGAGATCCAGAG	0.662																																						ENST00000448924.1																			0											c.(715-717)Cgg>Tgg		chromosome 1 open reading frame 159							25.0	35.0	32.0					1																	1019628		2171	4219	6390	SO:0001583	missense	54991					integral to membrane		g.chr1:1019628G>A	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.715C>T	1.37:g.1019628G>A	ENSP00000368644:p.Arg239Trp					C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000294576.5_Missense_Mutation_p.R203W|C1orf159_ENST00000379320.1_Missense_Mutation_p.R203W|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.R239W	p.R239W			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1146	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	239			Pro-rich.		B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.715C>T		.	.	.	.	.	.	.	.	.	.	G	13.31	2.199554	0.38806	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000379320	.	.	.	1.43	-2.86	0.05717	.	.	.	.	.	T	0.26521	0.0648	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.17961	-1.0352	7	0.87932	D	0	.	3.9675	0.09437	0.4521:0.1866:0.3613:0.0	.	239;203	Q96HA4;Q5T2W9	CA159_HUMAN;.	W	239;239;203;203	.	ENSP00000294576:R203W	R	-	1	2	C1orf159	1009491	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.083000	0.00612	-1.348000	0.02205	-0.224000	0.12420	CGG		0.662	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		6	40	0	0	0	1	0	6	40				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	22	1	0	1	1	1	4	22				
RALGAPA1	253959	broad.mit.edu	37	14	36226110	36226110	+	Silent	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr14:36226110T>C	ENST00000389698.3	-	7	942	c.552A>G	c.(550-552)caA>caG	p.Q184Q	SNORA31_ENST00000517250.1_RNA|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Silent_p.Q184Q|RALGAPA1_ENST00000258840.6_Silent_p.Q184Q|RALGAPA1_ENST00000307138.6_Silent_p.Q184Q	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	184					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTATAGTGACTTGAGCTATCC	0.313																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(550-552)caA>caG		Ral GTPase activating protein, alpha subunit 1 (catalytic)							109.0	107.0	108.0					14																	36226110		2203	4300	6503	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36226110T>C	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.552A>G	14.37:g.36226110T>C						RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Silent_p.Q184Q|RALGAPA1_ENST00000382366.3_Silent_p.Q184Q|RALGAPA1_ENST00000307138.6_Silent_p.Q184Q	p.Q184Q			Q6GYQ0	RGPA1_HUMAN			7	942	-			184					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.552A>G	CCDS32065.1																																																																																				0.313	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		12	85	0	0	0	1	0	12	85				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	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	0.274																																						ENST00000228347.4																			4	Substitution - Missense(4)	p.L368F(4)	kidney(3)|lung(1)	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						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				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	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	p.L368_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.1101_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	6	14	0	0	0	1	0	6	14				
TP63	8626	broad.mit.edu	37	3	189586503	189586503	+	Missense_Mutation	SNP	G	G	A	rs143591434	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:189586503G>A	ENST00000264731.3	+	8	1216	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TP63_ENST00000392460.3_Missense_Mutation_p.R376H|TP63_ENST00000382063.4_Missense_Mutation_p.R291H|TP63_ENST00000437221.1_Missense_Mutation_p.R282H|TP63_ENST00000418709.2_Missense_Mutation_p.R376H|TP63_ENST00000440651.2_Intron|TP63_ENST00000392463.2_Missense_Mutation_p.R282H|TP63_ENST00000392461.3_Missense_Mutation_p.R282H|TP63_ENST00000456148.1_Intron|TP63_ENST00000354600.5_Missense_Mutation_p.R282H|TP63_ENST00000449992.1_Missense_Mutation_p.R197H|TP63_ENST00000320472.5_Missense_Mutation_p.R376H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	376	Interaction with HIPK2.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGTACGAAGCGCCGTAAGTAG	0.493										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(1126-1128)cGc>cAc		tumor protein p63		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	118.0	120.0		1127,1127,845,845,845,1127	6.0	1.0	3	dbSNP_134	120	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TP63	NM_001114978.1,NM_001114979.1,NM_001114980.1,NM_001114981.1,NM_001114982.1,NM_003722.4	29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	376/556,376/488,282/587,282/462,282/394,376/681	189586503	1,13005	2203	4300	6503	SO:0001583	missense	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189586503G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1127G>A	3.37:g.189586503G>A	ENSP00000264731:p.Arg376His	HNSCC(45;0.13)				TP63_ENST00000418709.2_Missense_Mutation_p.R376H|TP63_ENST00000440651.2_Intron|TP63_ENST00000320472.5_Missense_Mutation_p.R376H|TP63_ENST00000392463.2_Missense_Mutation_p.R282H|TP63_ENST00000354600.5_Missense_Mutation_p.R282H|TP63_ENST00000449992.1_Missense_Mutation_p.R197H|TP63_ENST00000437221.1_Missense_Mutation_p.R282H|TP63_ENST00000456148.1_Intron|TP63_ENST00000392460.3_Missense_Mutation_p.R376H|TP63_ENST00000392461.3_Missense_Mutation_p.R282H|TP63_ENST00000382063.4_Missense_Mutation_p.R291H	p.R376H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	8	1216	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		376			Interaction with HIPK2.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.1127G>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224939	0.58668	2.27E-4	0.0	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992	D;D;D;D;D;D;D;D;D;D	0.99716	-6.2;-6.45;-6.45;-6.45;-6.5;-6.18;-6.41;-6.42;-6.42;-6.51	6.03	6.03	0.97812	.	0.186544	0.53938	D	0.000059	D	0.98921	0.9634	L	0.49126	1.545	0.80722	D	1	P;P;P;B;B;B;P;B;B	0.35328	0.495;0.495;0.495;0.114;0.193;0.07;0.495;0.122;0.193	B;B;B;B;B;B;B;B;B	0.36808	0.233;0.233;0.171;0.063;0.09;0.028;0.233;0.041;0.09	D	0.99951	1.1539	9	.	.	.	-0.3267	17.7226	0.88356	0.0:0.0:1.0:0.0	.	197;376;282;282;282;282;376;376;376	Q9H3D4-10;Q9H3D4-7;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	H	376;376;376;376;291;282;282;282;282;197	ENSP00000264731:R376H;ENSP00000407144:R376H;ENSP00000317510:R376H;ENSP00000376253:R376H;ENSP00000371495:R291H;ENSP00000346614:R282H;ENSP00000392488:R282H;ENSP00000376256:R282H;ENSP00000376254:R282H;ENSP00000387839:R197H	.	R	+	2	0	TP63	191069197	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.900000	0.75687	2.854000	0.98071	0.655000	0.94253	CGC		0.493	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		21	63	0	0	0	1	0	21	63				
RGL2	5863	broad.mit.edu	37	6	33264226	33264226	+	Silent	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:33264226T>C	ENST00000497454.1	-	5	930	c.435A>G	c.(433-435)gaA>gaG	p.E145E	RGL2_ENST00000444031.2_Silent_p.E63E|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	145	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TAGGATGAGATTCAAGGGCTT	0.517																																						ENST00000497454.1																			0				breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						c.(433-435)gaA>gaG		ral guanine nucleotide dissociation stimulator-like 2							107.0	106.0	106.0					6																	33264226		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33264226T>C		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.435A>G	6.37:g.33264226T>C						RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Silent_p.E63E	p.E145E	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN			5	930	-			145			N-terminal Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.435A>G	CCDS4774.1																																																																																				0.517	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			8	47	0	0	0	1	0	8	47				
CD163L1	283316	broad.mit.edu	37	12	7586252	7586252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr12:7586252C>T	ENST00000313599.3	-	3	220	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	CD163L1_ENST00000396630.1_Missense_Mutation_p.G55S|CD163L1_ENST00000416109.2_Missense_Mutation_p.G55S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	55	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGGGACCGTCTCCATTG	0.468																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(163-165)Ggt>Agt		CD163 molecule-like 1							167.0	129.0	142.0					12																	7586252		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7586252C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.163G>A	12.37:g.7586252C>T	ENSP00000315945:p.Gly55Ser					CD163L1_ENST00000396630.1_Missense_Mutation_p.G55S|CD163L1_ENST00000416109.2_Missense_Mutation_p.G55S	p.G55S			Q9NR16	C163B_HUMAN			3	220	-			55			SRCR 1.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.163G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	2.890	-0.229858	0.06022	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.26067	1.76;1.76;1.76	1.85	-0.953	0.10362	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.403409	0.19026	N	0.124694	T	0.06462	0.0166	N	0.02708	-0.52	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.11329	0.006;0.006	T	0.32161	-0.9917	10	0.06494	T	0.89	.	3.0344	0.06117	0.0:0.1831:0.2492:0.5677	.	55;55	E7EVK4;Q9NR16	.;C163B_HUMAN	S	55	ENSP00000315945:G55S;ENSP00000393474:G55S;ENSP00000379871:G55S	ENSP00000315945:G55S	G	-	1	0	CD163L1	7477519	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.274000	0.08537	-0.244000	0.09639	-0.471000	0.05019	GGT		0.468	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		30	78	0	0	0	1	0	30	78				
XPO6	23214	broad.mit.edu	37	16	28145181	28145181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:28145181G>A	ENST00000304658.5	-	11	2017	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	XPO6_ENST00000565698.1_Missense_Mutation_p.T492M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	506					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GAAGGCGTGCGTGGGCAGGAG	0.582																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(1516-1518)aCg>aTg		exportin 6							57.0	63.0	61.0					16																	28145181		2122	4216	6338	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28145181G>A	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1517C>T	16.37:g.28145181G>A	ENSP00000302790:p.Thr506Met					XPO6_ENST00000565698.1_Missense_Mutation_p.T492M	p.T506M	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			11	2017	-			506					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.1517C>T	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497542	0.44455	.	.	ENSG00000169180	ENST00000304658	T	0.67171	-0.25	5.04	4.04	0.47022	Armadillo-like helical (1);Armadillo-type fold (1);	0.105038	0.64402	D	0.000003	T	0.49064	0.1535	N	0.22421	0.69	0.46749	D	0.999185	B;B	0.30851	0.12;0.297	B;B	0.14578	0.01;0.011	T	0.55016	-0.8206	10	0.54805	T	0.06	-9.6705	13.2737	0.60177	0.0:0.1724:0.8276:0.0	.	506;506	B7ZM10;Q96QU8	.;XPO6_HUMAN	M	506	ENSP00000302790:T506M	ENSP00000302790:T506M	T	-	2	0	XPO6	28052682	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	6.406000	0.73276	2.594000	0.87642	0.650000	0.86243	ACG		0.582	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		17	19	0	0	0	1	0	17	19				
KIAA0355	9710	broad.mit.edu	37	19	34832445	34832445	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:34832445T>C	ENST00000299505.6	+	10	2479	c.1606T>C	c.(1606-1608)Ttc>Ctc	p.F536L		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	536										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCAGAAGACATTCTCCAAACT	0.463																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(1606-1608)Ttc>Ctc		KIAA0355							97.0	95.0	96.0					19																	34832445		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832445T>C		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1606T>C	19.37:g.34832445T>C	ENSP00000299505:p.Phe536Leu						p.F536L	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			10	2479	+	Esophageal squamous(110;0.162)		536					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.1606T>C	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826414	0.71143	.	.	ENSG00000166398	ENST00000299505	T	0.42513	0.97	5.28	5.28	0.74379	.	0.056833	0.64402	D	0.000001	T	0.31136	0.0787	N	0.19112	0.55	0.51482	D	0.999926	B	0.27932	0.194	B	0.26094	0.066	T	0.17623	-1.0363	10	0.87932	D	0	-23.2143	14.6864	0.69052	0.0:0.0:0.0:1.0	.	536	O15063	K0355_HUMAN	L	536	ENSP00000299505:F536L	ENSP00000299505:F536L	F	+	1	0	KIAA0355	39524285	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	5.864000	0.69575	2.131000	0.65755	0.533000	0.62120	TTC		0.463	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		13	79	0	0	0	1	0	13	79				
PHC3	80012	broad.mit.edu	37	3	169820405	169820405	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:169820405C>T	ENST00000494943.1	-	14	2727	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	PHC3_ENST00000495893.2_Missense_Mutation_p.E899K|PHC3_ENST00000467570.1_3'UTR			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	887					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTTTCCCGCTCGCTCTGCCTG	0.478																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2659-2661)Gag>Aag		polyhomeotic homolog 3 (Drosophila)							94.0	87.0	90.0					3																	169820405		1927	4134	6061	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169820405C>T		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2659G>A	3.37:g.169820405C>T	ENSP00000420271:p.Glu887Lys					PHC3_ENST00000467570.1_3'UTR|PHC3_ENST00000495893.1_Missense_Mutation_p.E899K	p.E887K			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		14	2727	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		887					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.2659G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.603045	0.87157	.	.	ENSG00000173889	ENST00000494943;ENST00000495893	T;T	0.34472	1.38;1.36	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000002	T	0.56292	0.1975	L	0.59436	1.845	0.80722	D	1	D;D	0.67145	0.993;0.996	P;D	0.64321	0.793;0.924	T	0.57636	-0.7777	10	0.59425	D	0.04	-11.7929	18.9434	0.92612	0.0:1.0:0.0:0.0	.	887;899	Q8NDX5;Q8NDX5-7	PHC3_HUMAN;.	K	887;899	ENSP00000420271:E887K;ENSP00000420294:E899K	ENSP00000420271:E887K	E	-	1	0	PHC3	171303099	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.209000	0.72171	2.538000	0.85594	0.650000	0.86243	GAG		0.478	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		7	63	0	0	0	1	0	7	63				
MYCBPAP	84073	broad.mit.edu	37	17	48600414	48600414	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr17:48600414C>T	ENST00000323776.5	+	11	1663	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R464W	NM_032133.4	NP_115509.4			MYCBP associated protein									p.R501W(1)|p.R464W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGACTGGCGACGGCAGCACCA	0.507																																						ENST00000323776.5																			2	Substitution - Missense(2)	p.R501W(1)|p.R464W(1)	endometrium(2)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1501-1503)Cgg>Tgg		MYCBP associated protein							107.0	105.0	106.0					17																	48600414		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48600414C>T	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1501C>T	17.37:g.48600414C>T	ENSP00000323184:p.Arg501Trp					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.R464W	p.R501W	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		11	1663	+	Breast(11;1.23e-18)		464						Missense_Mutation	SNP	ENST00000323776.5	37	c.1501C>T	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924591	0.73213	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.49139	0.79;0.79	5.83	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.79475	2.455	0.40367	D	0.979301	D	0.89917	1.0	D	0.91635	0.999	T	0.75838	-0.3176	10	0.87932	D	0	-30.7076	16.6481	0.85181	0.6054:0.3946:0.0:0.0	.	464	Q8TBZ2	MYBPP_HUMAN	W	501;464	ENSP00000323184:R501W;ENSP00000397209:R464W	ENSP00000323184:R501W	R	+	1	2	MYCBPAP	45955413	1.000000	0.71417	0.690000	0.30148	0.787000	0.44495	0.953000	0.29162	0.328000	0.23435	0.655000	0.94253	CGG		0.507	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		14	101	0	0	0	1	0	14	101				
SLC22A8	9376	broad.mit.edu	37	11	62762132	62762132	+	Silent	SNP	A	A	G			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:62762132A>G	ENST00000336232.2	-	8	1233	c.1098T>C	c.(1096-1098)gaT>gaC	p.D366D	SLC22A8_ENST00000430500.2_Silent_p.D366D|SLC22A8_ENST00000535878.1_Silent_p.D243D|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000311438.8_Silent_p.D366D|SLC22A8_ENST00000545207.1_Silent_p.D275D	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	366					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TGGCTGGGACATCGACCCCAC	0.547																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1096-1098)gaT>gaC		solute carrier family 22 (organic anion transporter), member 8							144.0	109.0	121.0					11																	62762132		2201	4298	6499	SO:0001819	synonymous_variant	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62762132A>G	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1098T>C	11.37:g.62762132A>G						SLC22A8_ENST00000311438.8_Silent_p.D366D|SLC22A8_ENST00000545207.1_Silent_p.D275D|SLC22A8_ENST00000535878.1_Silent_p.D243D|SLC22A8_ENST00000430500.2_Silent_p.D366D	p.D366D	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN			8	1233	-			366					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Silent	SNP	ENST00000336232.2	37	c.1098T>C	CCDS8042.1																																																																																				0.547	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		23	22	0	0	0	1	0	23	22				
ZSCAN20	7579	broad.mit.edu	37	1	33957173	33957173	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:33957173G>A	ENST00000361328.3	+	6	1468	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.E385K	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	439					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAGATGGATGAGCAGGAGGA	0.612																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1315-1317)Gag>Aag		zinc finger and SCAN domain containing 20							86.0	97.0	94.0					1																	33957173		1974	4151	6125	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33957173G>A	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1315G>A	1.37:g.33957173G>A	ENSP00000355053:p.Glu439Lys					ZSCAN20_ENST00000373413.2_Missense_Mutation_p.E385K	p.E439K	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			6	1468	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	439					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1315G>A	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807125	0.70797	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.02301	4.35	5.61	5.61	0.85477	.	0.282043	0.30809	N	0.008825	T	0.07638	0.0192	M	0.77103	2.36	0.32825	D	0.503233	P;D;P	0.55385	0.873;0.971;0.877	P;P;B	0.50934	0.523;0.654;0.339	T	0.02059	-1.1221	10	0.49607	T	0.09	-23.2601	13.1375	0.59417	0.0:0.1605:0.8394:0.0	.	439;385;439	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	K	385;439;385;373;373	ENSP00000362512:E385K	ENSP00000324450:E439K	E	+	1	0	ZSCAN20	33729760	0.710000	0.27896	1.000000	0.80357	0.982000	0.71751	2.005000	0.40864	2.815000	0.96918	0.561000	0.74099	GAG		0.612	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		39	54	0	0	0	1	0	39	54				
MAPK8IP3	23162	broad.mit.edu	37	16	1815104	1815104	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr16:1815104G>A	ENST00000250894.4	+	20	2525	c.2368G>A	c.(2368-2370)Gcc>Acc	p.A790T	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A784T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	790					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GATCATCGACGCCAACCAGCC	0.637																																						ENST00000250894.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						c.(2368-2370)Gcc>Acc		mitogen-activated protein kinase 8 interacting protein 3							41.0	47.0	45.0					16																	1815104		2137	4238	6375	SO:0001583	missense	23162				vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	g.chr16:1815104G>A	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2368G>A	16.37:g.1815104G>A	ENSP00000250894:p.Ala790Thr					MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A784T	p.A790T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN			20	2525	+			790					A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	37	c.2368G>A	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785493	0.90282	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.47869	0.84;0.83	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.53449	0.1797	M	0.82716	2.605	0.80722	D	1	P;P;B	0.38788	0.647;0.612;0.054	B;B;B	0.33521	0.165;0.127;0.021	T	0.64927	-0.6292	10	0.87932	D	0	-38.2369	18.3929	0.90489	0.0:0.0:1.0:0.0	.	791;784;790	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	T	790;784	ENSP00000250894:A790T;ENSP00000348290:A784T	ENSP00000250894:A790T	A	+	1	0	MAPK8IP3	1755105	1.000000	0.71417	0.951000	0.38953	0.710000	0.40934	9.336000	0.96533	2.456000	0.83038	0.655000	0.94253	GCC		0.637	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439		17	31	0	0	0	1	0	17	31				
HTR3D	200909	broad.mit.edu	37	3	183756032	183756032	+	Intron	SNP	G	G	A	rs373522764		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr3:183756032G>A	ENST00000382489.3	+	6	879				HTR3D_ENST00000334128.2_Missense_Mutation_p.R122H|HTR3D_ENST00000453435.1_Missense_Mutation_p.R76H|HTR3D_ENST00000428798.2_Missense_Mutation_p.R247H	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TCACTAGTACGTCCTCATCCA	0.507																																						ENST00000334128.2																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(364-366)cGt>cAt		5-hydroxytryptamine (serotonin) receptor 3D, ionotropic		G	HIS/ARG,,HIS/ARG	0,4406		0,0,2203	116.0	102.0	107.0		740,,365	3.3	0.5	3		107	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense	HTR3D	NM_001145143.1,NM_001163646.1,NM_182537.2	29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	247/405,,122/280	183756032	1,13005	2203	4300	6503	SO:0001627	intron_variant	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756032G>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.879+5G>A	3.37:g.183756032G>A						HTR3D_ENST00000453435.1_Missense_Mutation_p.R76H|HTR3D_ENST00000382489.3_Intron|HTR3D_ENST00000428798.2_Missense_Mutation_p.R247H	p.R122H	NM_182537.2	NP_872343.2	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		4	590	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		295					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.365G>A	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050658	0.55218	0.0	1.16E-4	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000453435	T;T;T	0.75821	-0.78;-0.97;-0.68	3.35	3.35	0.38373	.	.	.	.	.	T	0.54679	0.1873	N	0.08118	0	0.19575	N	0.999966	B;B;B	0.17465	0.022;0.022;0.022	B;B;B	0.14578	0.007;0.007;0.011	T	0.49011	-0.8983	9	0.49607	T	0.09	.	10.3771	0.44088	0.0:0.0:1.0:0.0	.	122;76;122	Q70Z44-2;Q70Z44-3;F6WC43	.;.;.	H	122;247;76	ENSP00000334315:R122H;ENSP00000405409:R247H;ENSP00000389268:R76H	ENSP00000334315:R122H	R	+	2	0	HTR3D	185238726	0.339000	0.24784	0.529000	0.27951	0.018000	0.09664	3.523000	0.53488	1.865000	0.54081	0.561000	0.74099	CGT		0.507	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		26	21	0	0	0	1	0	26	21				
TSNARE1	203062	broad.mit.edu	37	8	143310865	143310865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr8:143310865C>T	ENST00000307180.3	-	13	1639	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	TSNARE1_ENST00000524325.1_Missense_Mutation_p.A507T|TSNARE1_ENST00000520166.1_Missense_Mutation_p.A508T	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	508					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGAGGTGGCGATGATGATG	0.517																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(1519-1521)Gcc>Acc		t-SNARE domain containing 1							335.0	214.0	255.0					8																	143310865		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143310865C>T			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1522G>A	8.37:g.143310865C>T	ENSP00000303437:p.Ala508Thr					TSNARE1_ENST00000520166.1_Missense_Mutation_p.A508T|TSNARE1_ENST00000307180.3_Missense_Mutation_p.A508T	p.A507T			Q96NA8	TSNA1_HUMAN			13	1694	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		508			Poly-Ile.		B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.1519G>A	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	C	1.119	-0.655857	0.03480	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166	T;T;T	0.14516	2.5;2.52;2.5	2.35	0.298	0.15766	.	.	.	.	.	T	0.07234	0.0183	N	0.19112	0.55	0.09310	N	1	B;B;B	0.14012	0.009;0.009;0.009	B;B;B	0.04013	0.001;0.001;0.001	T	0.36744	-0.9735	9	0.59425	D	0.04	.	1.3567	0.02184	0.2165:0.4246:0.2133:0.1456	.	507;508;509	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	T	507;508;508	ENSP00000428763:A507T;ENSP00000303437:A508T;ENSP00000427770:A508T	ENSP00000303437:A508T	A	-	1	0	TSNARE1	143308772	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	-0.424000	0.07025	-0.101000	0.12219	-0.745000	0.03516	GCC		0.517	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		21	54	0	0	0	1	0	21	54				
SNAP47	116841	broad.mit.edu	37	1	227935682	227935682	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:227935682C>T	ENST00000366759.4	+	2	794	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.S127F|SNAP47-AS1_ENST00000413347.2_RNA	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	127					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTTCAGCTCCCTGCGGCCA	0.552																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(379-381)tCc>tTc		synaptosomal-associated protein, 47kDa							95.0	91.0	93.0					1																	227935682		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227935682C>T	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.380C>T	1.37:g.227935682C>T	ENSP00000355721:p.Ser127Phe					SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_Missense_Mutation_p.S127F	p.S127F	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			2	794	+			127					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.380C>T	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041762	0.75732	.	.	ENSG00000143740	ENST00000366759;ENST00000315781	T;T	0.25250	1.81;1.81	4.35	4.35	0.52113	.	0.057939	0.64402	D	0.000001	T	0.52645	0.1747	M	0.80616	2.505	0.52501	D	0.99995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.988;0.999	T	0.59773	-0.7391	10	0.87932	D	0	-7.24	14.3946	0.67003	0.0:1.0:0.0:0.0	.	127;127	Q5SQN1;Q5SQN1-2	SNP47_HUMAN;.	F	127	ENSP00000355721:S127F;ENSP00000314157:S127F	ENSP00000314157:S127F	S	+	2	0	SNAP47	226002305	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.249000	0.65427	2.263000	0.75096	0.591000	0.81541	TCC		0.552	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		9	84	0	0	0	1	0	9	84				
DEK	7913	broad.mit.edu	37	6	18249993	18249993	+	Silent	SNP	A	A	C			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr6:18249993A>C	ENST00000397239.3	-	7	1098	c.651T>G	c.(649-651)gcT>gcG	p.A217A	DEK_ENST00000244776.7_Silent_p.A183A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	217					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGTTCGCTTAGCCTTCCTTG	0.353			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(649-651)gcT>gcG		DEK oncogene							120.0	111.0	114.0					6																	18249993		2203	4300	6503	SO:0001819	synonymous_variant	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18249993A>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.651T>G	6.37:g.18249993A>C						DEK_ENST00000244776.7_Silent_p.A183A	p.A217A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		7	1098	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	217					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Silent	SNP	ENST00000397239.3	37	c.651T>G	CCDS34344.1																																																																																				0.353	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			8	70	0	0	0	1	0	8	70				
SIGLEC1	6614	broad.mit.edu	37	20	3677341	3677341	+	Silent	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr20:3677341G>A	ENST00000344754.4	-	10	2574	c.2575C>T	c.(2575-2577)Ctg>Ttg	p.L859L	SIGLEC1_ENST00000202578.4_Silent_p.L859L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	859	Ig-like C2-type 8.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTAACTTCAGGGAGTTGGCC	0.587																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2575-2577)Ctg>Ttg		sialic acid binding Ig-like lectin 1, sialoadhesin							80.0	78.0	79.0					20																	3677341		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677341G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2575C>T	20.37:g.3677341G>A						SIGLEC1_ENST00000202578.4_Silent_p.L859L	p.L859L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			10	2574	-			859			Ig-like C2-type 8.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.2575C>T	CCDS13060.1																																																																																				0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		14	70	0	0	0	1	0	14	70				
TRO	7216	broad.mit.edu	37	X	54952877	54952877	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:54952877G>A	ENST00000173898.7	+	8	1724	c.1612G>A	c.(1612-1614)Gtg>Atg	p.V538M	TRO_ENST00000319167.8_Missense_Mutation_p.V538M|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Missense_Mutation_p.V141M|TRO_ENST00000375041.2_Missense_Mutation_p.V141M|TRO_ENST00000420798.2_Missense_Mutation_p.V69M|TRO_ENST00000375022.4_Missense_Mutation_p.V538M	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	538	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCTCCTCATGGTGATTCTGAG	0.478																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1612-1614)Gtg>Atg		trophinin							101.0	101.0	101.0					X																	54952877		2203	4300	6503	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54952877G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1612G>A	X.37:g.54952877G>A	ENSP00000173898:p.Val538Met					TRO_ENST00000420798.2_Missense_Mutation_p.V69M|TRO_ENST00000375022.4_Missense_Mutation_p.V538M|TRO_ENST00000399736.1_Missense_Mutation_p.V141M|TRO_ENST00000375041.2_Missense_Mutation_p.V141M|TRO_ENST00000319167.8_Missense_Mutation_p.V538M	p.V538M	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			8	1724	+			538			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1612G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772232	0.31411	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.06142	3.34;3.34;3.34;3.34;3.34;3.34	2.92	2.92	0.33932	.	.	.	.	.	T	0.09774	0.0240	N	0.16862	0.45	0.39001	D	0.95935	D;P;D;D	0.89917	0.999;0.587;1.0;1.0	D;P;D;D	0.97110	0.998;0.573;1.0;0.999	T	0.22941	-1.0202	9	0.66056	D	0.02	.	5.1583	0.15046	0.1633:0.0:0.8367:0.0	.	141;141;538;538	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	M	538;538;538;141;141;69;141	ENSP00000173898:V538M;ENSP00000318278:V538M;ENSP00000364162:V538M;ENSP00000382641:V141M;ENSP00000405126:V69M;ENSP00000364181:V141M	ENSP00000173898:V538M	V	+	1	0	TRO	54969602	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	3.573000	0.53856	1.720000	0.51447	0.513000	0.50165	GTG		0.478	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		7	24	0	0	0	1	0	7	24				
MLNR	2862	broad.mit.edu	37	13	49796306	49796306	+	Silent	SNP	C	C	T	rs150012357		TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr13:49796306C>T	ENST00000218721.1	+	2	1032	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	344					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone-releasing hormone receptor activity (GO:0016520)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		TGCAACTTTTCTATCTGAGCG	0.473																																						ENST00000218721.1																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14						c.(1030-1032)ttC>ttT		motilin receptor		C		1,4405	2.1+/-5.4	0,1,2202	196.0	183.0	188.0		1032	4.0	1.0	13	dbSNP_134	188	0,8600		0,0,4300	no	coding-synonymous	MLNR	NM_001507.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		344/413	49796306	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2862				digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity	g.chr13:49796306C>T	AF034632	CCDS9414.1	13q14-q21	2012-08-08	2004-05-27	2004-05-28	ENSG00000102539	ENSG00000102539		"""GPCR / Class A : Motilin receptors"""	4495	protein-coding gene	gene with protein product		602885	"""G protein-coupled receptor 38"""	GPR38		9441746	Standard	NM_001507		Approved		uc010tgj.2	O43193	OTTHUMG00000016909	ENST00000218721.1:c.1032C>T	13.37:g.49796306C>T						MLNR_ENST00000398307.1_3'UTR	p.F344F	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)	2	1032	+		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	344						Silent	SNP	ENST00000218721.1	37	c.1032C>T	CCDS9414.1																																																																																				0.473	MLNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044897.1	NM_001507		22	168	0	0	0	1	0	22	168				
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr1:154842200_154842202delGCT	ENST00000271915.4	-	1	554_556	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctg	0.7																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(238-243)cca>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842200_154842202delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241delAGC	1.37:g.154842209_154842211delGCT	ENSP00000271915:p.Gln80del						p.QP80del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	554_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.239_241delAGC	CCDS30880.1																																																																																				0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		5	11						5	11	---	---	---	---
SMPD1	6609	broad.mit.edu	37	11	6412859	6412860	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr11:6412859_6412860insA	ENST00000342245.4	+	2	732_733	c.564_565insA	c.(565-567)aaafs	p.K189fs	SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.K189fs|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.K189fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.K188fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	187					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	AGCCGCCCCCCAAACCCCCTAG	0.624																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(562-567)ccaaccfs		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)		,	8,4210		0,8,2101					,	-2.6	0.2			16	74,8102		1,72,4015	no	frameshift,frameshift	SMPD1	NM_001007593.2,NM_000543.4	,	1,80,6116	A1A1,A1R,RR		0.9051,0.1897,0.6616	,	,		82,12312				SO:0001589	frameshift_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412859_6412860insA	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.567dupA	11.37:g.6412862_6412862dupA	ENSP00000340409:p.Lys189fs					SMPD1_ENST00000527275.1_Frame_Shift_Ins_p.T188fs|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000356761.2_Frame_Shift_Ins_p.T189fs|SMPD1_ENST00000299397.3_Frame_Shift_Ins_p.T189fs	p.T189fs	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	732_733	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	187					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Frame_Shift_Ins	INS	ENST00000342245.4	37	c.564_565insA	CCDS44531.1																																																																																				0.624	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		2	4						2	4	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41235209	41235209	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chr19:41235209delT	ENST00000263370.2	+	3	1391	c.1358delT	c.(1357-1359)gtgfs	p.V453fs		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	453					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGACCTTTCGTGCCTGCCTAC	0.562																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(1357-1359)ggfs		inositol-trisphosphate 3-kinase C							66.0	57.0	60.0					19																	41235209		2203	4300	6503	SO:0001589	frameshift_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41235209delT	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1358delT	19.37:g.41235209delT	ENSP00000263370:p.Val453fs						p.V453fs	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1391	+			453					Q9UE25|Q9Y475	Frame_Shift_Del	DEL	ENST00000263370.2	37	c.1358delT	CCDS12563.1																																																																																				0.562	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		9	24						9	24	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76854995	76854995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7014-01A-11D-2024-08	TCGA-DU-7014-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fde9856-1e6b-4a8f-8003-0dbde23641d7	717008e0-3fa4-4d5b-9730-980e9e577327	g.chrX:76854995delG	ENST00000373344.5	-	25	6055	c.5841delC	c.(5839-5841)ggcfs	p.G1947fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1909fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1947	Poly-Ser.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	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						CATTGTCACTGCCACTTCCAC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(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						c.(5839-5841)ggfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						456.0	420.0	433.0					X																	76854995		2203	4296	6499	SO:0001589	frameshift_variant	546				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	g.chrX:76854995delG	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5841delC	X.37:g.76854995delG	ENSP00000362441:p.Gly1947fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1909fs	p.G1947fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			25	6055	-			1947			Poly-Ser.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5841delC	CCDS14434.1																																																																																				0.363	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		127	77						127	77	---	---	---	---
