#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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	t_alt_count	t_ref_count
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM070299	TP53	M							51.0	51.0	51.0					17																	7578413		2203	4300	6503	SO:0001583	missense	7157	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;	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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met		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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	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	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	28	32	28
KRT38	8687	hgsc.bcm.edu;broad.mit.edu	37	17	39596991	39596991	+	Silent	SNP	G	G	A	rs267604868		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	ENST00000246646.3	-	1	182	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	61	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637																																																0													43.0	46.0	45.0					17																	39596991		2203	4300	6503	SO:0001819	synonymous_variant	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.183C>T	17.37:g.39596991G>A			A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	CCDS11392.1																																																																																				0.637	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		6	82	6	82
TTYH2	94015	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	72233513	72233513	+	Silent	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	ENST00000269346.4	+	4	569	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TTYH2_ENST00000529107.1_Silent_p.G144G	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	165						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGCCCGGGGCGATTACCTGC	0.597																																																0													86.0	84.0	84.0					17																	72233513		2203	4300	6503	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.495C>T	17.37:g.72233513C>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.597	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			19	63	19	63
OTOP2	92736	hgsc.bcm.edu;broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	ENST00000580223.1	+	4	587	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000331427.4_Missense_Mutation_p.A186E			Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral component of membrane (GO:0016021)		p.A186V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577																																																1	Substitution - Missense(1)	lung(1)											87.0	69.0	75.0					17																	72923807		2203	4300	6503	SO:0001583	missense	92736			BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.557C>A	17.37:g.72923807C>A	ENSP00000463837:p.Ala186Glu			Missense_Mutation	SNP	ENST00000580223.1	37	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001263	0.54254	.	.	ENSG00000183034	ENST00000331427	T	0.21191	2.02	5.1	5.1	0.69264	.	0.417107	0.28268	N	0.015978	T	0.37019	0.0988	L	0.46157	1.445	0.44862	D	0.997875	D	0.59357	0.985	P	0.60236	0.871	T	0.01298	-1.1392	10	0.30854	T	0.27	-9.1898	18.7118	0.91659	0.0:1.0:0.0:0.0	.	186	Q7RTS6	OTOP2_HUMAN	E	186	ENSP00000332528:A186E	ENSP00000332528:A186E	A	+	2	0	OTOP2	70435402	0.995000	0.38212	0.958000	0.39756	0.109000	0.19521	3.237000	0.51344	2.655000	0.90218	0.462000	0.41574	GCG		0.577	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		4	45	4	45
PLVAP	83483	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	17487967	17487967	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	ENST00000252590.4	-	1	192	c.131T>C	c.(130-132)gTg>gCg	p.V44A		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	44					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATGAAGAGCACGAGCCCCAG	0.612																																																0													88.0	79.0	82.0					19																	17487967		2203	4300	6503	SO:0001583	missense	83483			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.131T>C	19.37:g.17487967A>G	ENSP00000252590:p.Val44Ala		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840708	0.71488	.	.	ENSG00000130300	ENST00000252590	T	0.33865	1.39	4.77	3.72	0.42706	.	0.000000	0.64402	D	0.000001	T	0.46946	0.1419	L	0.36672	1.1	0.36998	D	0.895115	D	0.89917	1.0	D	0.87578	0.998	T	0.53287	-0.8460	10	0.87932	D	0	-67.9341	9.786	0.40677	0.8261:0.1739:0.0:0.0	.	44	Q9BX97	PLVAP_HUMAN	A	44	ENSP00000252590:V44A	ENSP00000252590:V44A	V	-	2	0	PLVAP	17348967	1.000000	0.71417	0.890000	0.34922	0.822000	0.46500	7.247000	0.78257	0.742000	0.32697	0.459000	0.35465	GTG		0.612	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		19	54	19	54
PLCH2	9651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	2415924	2415924	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	ENST00000419816.2	+	5	957	c.683T>G	c.(682-684)tTt>tGt	p.F228C	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.F228C|PLCH2_ENST00000449969.1_Missense_Mutation_p.F201C|PLCH2_ENST00000378488.3_Missense_Mutation_p.F228C			O75038	PLCH2_HUMAN	phospholipase C, eta 2	228	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602																																																0													62.0	71.0	68.0					1																	2415924		2068	4205	6273	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.683T>G	1.37:g.2415924T>G	ENSP00000389803:p.Phe228Cys		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.	.	.	.	.	.	.	.	.	.	T	12.53	1.965621	0.34659	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.74315	-0.83;-0.83;-0.83	3.69	3.69	0.42338	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.85986	0.5825	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.989;0.999;0.997	D	0.87877	0.2675	10	0.87932	D	0	.	11.7123	0.51633	0.0:0.0:0.0:1.0	.	75;16;201;228	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	C	201;228;228;75;16	ENSP00000397289:F201C;ENSP00000367747:F228C;ENSP00000367749:F228C	ENSP00000278878:F16C	F	+	2	0	PLCH2	2405784	1.000000	0.71417	0.983000	0.44433	0.533000	0.34776	5.895000	0.69814	1.564000	0.49628	0.459000	0.35465	TTT		0.602	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		8	29	8	29
ZFP69	339559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	40961691	40961691	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:40961691A>G	ENST00000372706.1	+	6	2547	c.1541A>G	c.(1540-1542)cAt>cGt	p.H514R	ZFP69_ENST00000372705.3_Missense_Mutation_p.H514R|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTCGACATCATGAAATACAC	0.368																																																0													60.0	63.0	62.0					1																	40961691		2202	4300	6502	SO:0001583	missense	339559			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1541A>G	1.37:g.40961691A>G	ENSP00000361791:p.His514Arg		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	8.742	0.919261	0.17982	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.04406	3.63;3.63	4.51	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.347511	0.21206	N	0.078389	T	0.01765	0.0056	N	0.01081	-1.03	0.23023	N	0.998412	B	0.22346	0.068	B	0.16722	0.016	T	0.44559	-0.9320	10	0.39692	T	0.17	-0.1329	8.7897	0.34843	0.9088:0.0:0.0912:0.0	.	514	Q49AA0	ZN642_HUMAN	R	514	ENSP00000361791:H514R;ENSP00000361790:H514R	ENSP00000361790:H514R	H	+	2	0	ZNF642	40734278	0.657000	0.27393	0.999000	0.59377	0.983000	0.72400	2.704000	0.47118	1.043000	0.40175	0.459000	0.35465	CAT		0.368	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		24	81	24	81
OR6K2	81448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	158670418	158670418	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	ENST00000359610.2	-	1	68	c.25A>G	c.(25-27)Att>Gtt	p.I9V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433																																																0													92.0	97.0	95.0					1																	158670418		2198	4299	6497	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.25A>G	1.37:g.158670418T>C	ENSP00000352626:p.Ile9Val		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.621750	0.00820	.	.	ENSG00000196171	ENST00000359610	T	0.00351	7.97	4.34	-2.24	0.06909	.	0.716348	0.11340	N	0.574194	T	0.00012	0.0000	N	0.00217	-1.83	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15578	-1.0432	10	0.02654	T	1	0.828	6.8248	0.23876	0.118:0.417:0.0:0.465	.	9	Q8NGY2	OR6K2_HUMAN	V	9	ENSP00000352626:I9V	ENSP00000352626:I9V	I	-	1	0	OR6K2	156937042	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.539000	0.02202	-1.188000	0.02705	-2.770000	0.00120	ATT		0.433	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		15	73	15	73
ASPHD2	57168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	26829961	26829961	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	ENST00000215906.5	+	2	818	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	127					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAGAAGCTGTACCACAACCTG	0.652																																																0													49.0	43.0	45.0					22																	26829961		2203	4300	6503	SO:0001583	missense	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.380A>G	22.37:g.26829961A>G	ENSP00000215906:p.Tyr127Cys		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824512	0.71143	.	.	ENSG00000128203	ENST00000215906	T	0.48522	0.81	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.65894	-0.6057	10	0.66056	D	0.02	-40.6873	13.5667	0.61822	1.0:0.0:0.0:0.0	.	127	Q6ICH7	ASPH2_HUMAN	C	127	ENSP00000215906:Y127C	ENSP00000215906:Y127C	Y	+	2	0	ASPHD2	25159961	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.292000	0.89930	1.981000	0.57761	0.460000	0.39030	TAC		0.652	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		12	40	12	40
MYT1L	23040	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	1906994	1906994	+	Silent	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	ENST00000399161.2	-	14	2637	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	MYT1L_ENST00000428368.2_Silent_p.P628P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468																																																0													98.0	92.0	94.0					2																	1906994		1966	4155	6121	SO:0001819	synonymous_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1890G>A	2.37:g.1906994C>T			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37																																																																																					0.468	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		12	31	12	31
MOGS	7841	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	74688527	74688527	+	Missense_Mutation	SNP	G	G	A	rs554882882		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	ENST00000233616.4	-	4	2551	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C	MOGS_ENST00000452063.2_Missense_Mutation_p.R691C|MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	797					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGTACTGGCGCCATACATTG	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18980	0.0		0.0	False		,,,				2504	0.001															0													66.0	72.0	70.0					2																	74688527		2073	4194	6267	SO:0001583	missense	7841			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.2389C>T	2.37:g.74688527G>A	ENSP00000233616:p.Arg797Cys		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751668	0.49362	.	.	ENSG00000115275	ENST00000233616;ENST00000452063	T;T	0.40225	1.04;1.04	4.48	3.59	0.41128	Six-hairpin glycosidase-like (1);	0.118042	0.56097	D	0.000039	T	0.58495	0.2126	M	0.81341	2.54	0.80722	D	1	D	0.71674	0.998	P	0.56823	0.807	T	0.65146	-0.6239	10	0.72032	D	0.01	-14.4164	11.7974	0.52108	0.0:0.0:0.8229:0.1771	.	797	Q13724	MOGS_HUMAN	C	797;691	ENSP00000233616:R797C;ENSP00000388201:R691C	ENSP00000233616:R797C	R	-	1	0	MOGS	74542035	1.000000	0.71417	0.995000	0.50966	0.794000	0.44872	2.801000	0.47908	1.209000	0.43321	0.563000	0.77884	CGC		0.622	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		27	79	27	79
AMER3	205147	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	131521009	131521009	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:131521009C>T	ENST00000423981.1	+	2	1474	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	AMER3_ENST00000321420.4_Missense_Mutation_p.T455M	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	455					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										GCCCTGGGGACGCCACTGTCC	0.652																																																0													33.0	36.0	35.0					2																	131521009		2203	4300	6503	SO:0001583	missense	205147			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1364C>T	2.37:g.131521009C>T	ENSP00000392700:p.Thr455Met		B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904974	0.33628	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.48836	0.8;0.8	5.06	4.16	0.48862	.	0.395446	0.21174	N	0.078935	T	0.42314	0.1197	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	P	0.60345	0.873	T	0.17107	-1.0380	10	0.42905	T	0.14	.	7.1069	0.25368	0.1737:0.7333:0.0:0.0929	.	455	Q8N944	F123C_HUMAN	M	455	ENSP00000314914:T455M;ENSP00000392700:T455M	ENSP00000314914:T455M	T	+	2	0	FAM123C	131237479	0.508000	0.26154	0.090000	0.20809	0.262000	0.26303	1.041000	0.30291	2.515000	0.84797	0.561000	0.74099	ACG		0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		21	52	21	52
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				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.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	65	21	65
CASR	846	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	122003874	122003874	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	ENST00000490131.1	+	7	3445	c.3073C>A	c.(3073-3075)Ctg>Atg	p.L1025M	CASR_ENST00000498619.1_Missense_Mutation_p.L1035M|CASR_ENST00000296154.5_Missense_Mutation_p.L1025M	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1025					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592																																																0													60.0	63.0	62.0					3																	122003874		2203	4300	6503	SO:0001583	missense	846			U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3073C>A	3.37:g.122003874C>A	ENSP00000418685:p.Leu1025Met		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.395611	0.01175	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89485	-2.52;-2.52;-2.52	5.49	1.54	0.23209	.	0.832453	0.10736	N	0.640015	T	0.75598	0.3871	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.60260	-0.7298	10	0.30854	T	0.27	.	4.5351	0.12024	0.2742:0.5116:0.0:0.2142	.	1035;1025	E7ENE0;P41180	.;CASR_HUMAN	M	1025;1035;1025	ENSP00000418685:L1025M;ENSP00000420194:L1035M;ENSP00000296154:L1025M	ENSP00000296154:L1025M	L	+	1	2	CASR	123486564	0.001000	0.12720	0.001000	0.08648	0.018000	0.09664	0.225000	0.17757	0.058000	0.16222	0.561000	0.74099	CTG		0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		22	61	22	61
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	79428637	79428637	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	ENST00000264895.6	+	62	9819	c.9379T>C	c.(9379-9381)Tct>Cct	p.S3127P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3123	Calx-beta 5.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCATGAATCTTTCTCACT	0.488																																																0													106.0	103.0	104.0					4																	79428637		2029	4200	6229	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9379T>C	4.37:g.79428637T>C	ENSP00000264895:p.Ser3127Pro		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.2|27.2	4.807411|4.807411	0.90623|0.90623	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|T	.|0.30981	.|1.51	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.131349	.|0.52532	.|D	.|0.000062	T|T	0.52837|0.52837	0.1759|0.1759	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.994	.|D;D	.|0.78314	.|0.991;0.928	T|T	0.55860|0.55860	-0.8074|-0.8074	5|10	.|0.66056	.|D	.|0.02	.|.	15.1808|15.1808	0.72956|0.72956	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3126;3127	.|Q86XX4-2;E9PHH6	.|.;.	T|P	1355|3127	.|ENSP00000264895:S3127P	.|ENSP00000264895:S3127P	I|S	+|+	2|1	0|0	FRAS1|FRAS1	79647661|79647661	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.992000|0.992000	0.81027|0.81027	7.865000|7.865000	0.87049|0.87049	2.064000|2.064000	0.61679|0.61679	0.482000|0.482000	0.46254|0.46254	ATC|TCT		0.488	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	34	5	34
PCDHGB3	56102	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	140750527	140750527	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	ENST00000576222.1	+	1	697	c.566G>T	c.(565-567)aGt>aTt	p.S189I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	189	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557																																																0													121.0	121.0	121.0					5																	140750527		2037	4211	6248	SO:0001583	missense	56102			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.566G>T	5.37:g.140750527G>T	ENSP00000461862:p.Ser189Ile		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	CCDS58980.1																																																																																				0.557	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		34	134	34	134
ZNF300	91975	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150275093	150275093	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	ENST00000274599.5	-	6	2128	c.1708A>T	c.(1708-1710)Att>Ttt	p.I570F	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.I570F|ZNF300_ENST00000446148.2_Missense_Mutation_p.I586F|ZNF300_ENST00000418587.2_Missense_Mutation_p.I534F	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAATCCTCTGATGT	0.438																																																0													95.0	97.0	96.0					5																	150275093		2203	4299	6502	SO:0001583	missense	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1708A>T	5.37:g.150275093T>A	ENSP00000274599:p.Ile570Phe		A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302161	0.60195	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	3.9	3.9	0.45041	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	L	0.48362	1.52	0.28757	N	0.901122	D	0.76494	0.999	D	0.74674	0.984	T	0.02632	-1.1131	9	0.72032	D	0.01	.	7.533	0.27693	0.0:0.0:0.2189:0.7811	.	570	Q96RE9	ZN300_HUMAN	F	586;570;534;570	ENSP00000397178:I586F;ENSP00000274599:I570F;ENSP00000392593:I534F;ENSP00000377773:I570F	ENSP00000274599:I570F	I	-	1	0	ZNF300	150255286	0.001000	0.12720	1.000000	0.80357	0.970000	0.65996	0.597000	0.24059	1.785000	0.52413	0.482000	0.46254	ATT		0.438	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		22	60	22	60
FAM47A	158724	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	34149060	34149060	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	ENST00000346193.3	-	1	1387	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	446										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCCGGGCCTCACAACGATCC	0.557																																																0													44.0	46.0	45.0					X																	34149060		2070	4217	6287	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1336G>C	X.37:g.34149060C>G	ENSP00000345029:p.Glu446Gln		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	14.78	2.637375	0.47049	.	.	ENSG00000185448	ENST00000346193	T	0.20200	2.09	0.866	-0.49	0.12049	.	.	.	.	.	T	0.22704	0.0548	L	0.53249	1.67	0.21064	N	0.999795	P	0.52316	0.952	P	0.50659	0.647	T	0.21415	-1.0246	8	0.17369	T	0.5	.	.	.	.	.	446	Q5JRC9	FA47A_HUMAN	Q	446	ENSP00000345029:E446Q	ENSP00000345029:E446Q	E	-	1	0	FAM47A	34058981	0.000000	0.05858	0.143000	0.22291	0.611000	0.37282	-0.417000	0.07088	-0.200000	0.10300	0.287000	0.19450	GAG		0.557	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	20	17	20
SNHG14	104472715	broad.mit.edu;ucsc.edu	37	15	25438440	25438440	+	RNA	SNP	A	A	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:25438440A>G	ENST00000424208.1	+	0	1299				SNORD115-12_ENST00000362583.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGCTGGATGCATGCGCCGGGA	0.537																																																0													240.0	234.0	236.0					15																	25438440		875	1991	2866			104472715					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438440A>G				RNA	SNP	ENST00000424208.1	37																																																																																					0.537	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			50	182	50	182
BTN2A3P	54718	broad.mit.edu;ucsc.edu	37	6	26423175	26423175	+	RNA	SNP	G	G	A	rs151279164	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:26423175G>A	ENST00000466808.2	+	0	94							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGTCACTGTCGTGGGGCCCAC	0.537																																																0													99.0	83.0	89.0					6																	26423175		2203	4300	6503			54718			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423175G>A			A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																					0.537	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		16	42	16	42
OCA2	4948	broad.mit.edu;hgsc.bcm.edu	37	15	28171297	28171297	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	ENST00000354638.3	-	19	2210	c.2055delT	c.(2053-2055)tttfs	p.F685fs	OCA2_ENST00000353809.5_Frame_Shift_Del_p.F661fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	685					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous Albinism																																							0			GRCh37	CD051775	OCA2	D				12,4252		6,0,2126	105.0	110.0	108.0			5.8	1.0	15		109	13,8241		6,1,4120	no	frameshift	OCA2	NM_000275.2		12,1,6246	A1A1,A1R,RR		0.1575,0.2814,0.1997			28171297	25,12493	2203	4300	6503	SO:0001589	frameshift_variant	4948	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.2055delT	15.37:g.28171297delA	ENSP00000346659:p.Phe685fs		Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Del	DEL	ENST00000354638.3	37	CCDS10020.1																																																																																				0.363	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		19	63	19	63
ZNF320	162967	broad.mit.edu;hgsc.bcm.edu	37	19	53384195	53384195	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	ENST00000595635.1	-	8	1685	c.1184delG	c.(1183-1185)agtfs	p.S395fs	ZNF320_ENST00000391781.2_Frame_Shift_Del_p.S395fs|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403																																																0													91.0	86.0	88.0					19																	53384195		2203	4300	6503	SO:0001589	frameshift_variant	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1184delG	19.37:g.53384195delC	ENSP00000473091:p.Ser395fs		Q8NDR6	Frame_Shift_Del	DEL	ENST00000595635.1	37	CCDS33095.1																																																																																				0.403	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		38	104	38	104
