#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
PC	5091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	66636386	66636386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:66636386C>T	ENST00000393958.2	-	9	1046	c.953G>A	c.(952-954)gGc>gAc	p.G318D	PC_ENST00000393955.2_Missense_Mutation_p.G318D|PC_ENST00000393960.1_Missense_Mutation_p.G318D|PC_ENST00000355677.3_Missense_Mutation_p.G318D|PC_ENST00000524491.1_Missense_Mutation_p.G278D	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	318	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTAGTGCTTGCCGTGCCTGTC	0.677																																																0													93.0	81.0	85.0					11																	66636386		2200	4295	6495	SO:0001583	missense	5091			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.953G>A	11.37:g.66636386C>T	ENSP00000377530:p.Gly318Asp		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446318	0.63178	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.98012	-4.66;-4.66;-4.66;-4.66;-4.66	4.54	4.54	0.55810	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.148172	0.45361	D	0.000374	D	0.96540	0.8871	L	0.46947	1.48	0.80722	D	1	B	0.29481	0.245	B	0.41202	0.35	D	0.95347	0.8443	10	0.27082	T	0.32	-26.5524	14.7854	0.69800	0.0:1.0:0.0:0.0	.	318	P11498	PYC_HUMAN	D	318;318;318;278;318	ENSP00000377527:G318D;ENSP00000377530:G318D;ENSP00000377532:G318D;ENSP00000434192:G278D;ENSP00000347900:G318D	ENSP00000347900:G318D	G	-	2	0	PC	66392962	1.000000	0.71417	0.992000	0.48379	0.882000	0.50991	4.406000	0.59748	2.071000	0.62044	0.561000	0.74099	GGC		0.677	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		32	48	32	48
PPHLN1	51535	hgsc.bcm.edu;broad.mit.edu	37	12	42835164	42835164	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr12:42835164G>A	ENST00000395568.2	+	10	1041	c.957G>A	c.(955-957)ctG>ctA	p.L319L	PPHLN1_ENST00000432191.2_Silent_p.L264L|PPHLN1_ENST00000552761.1_Silent_p.L271L|PPHLN1_ENST00000358314.7_Silent_p.L319L|PPHLN1_ENST00000549190.1_Silent_p.L337L|PPHLN1_ENST00000317560.9_Silent_p.L252L|PPHLN1_ENST00000256678.8_Silent_p.L199L|PPHLN1_ENST00000395580.3_Silent_p.L326L|PPHLN1_ENST00000337898.6_Silent_p.L264L|PPHLN1_ENST00000449194.2_Silent_p.L300L	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	319					keratinization (GO:0031424)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAAATGCTGATTGAAAAAG	0.368																																																0													176.0	172.0	173.0					12																	42835164		2203	4300	6503	SO:0001819	synonymous_variant	51535			AY157850	CCDS8741.1, CCDS31777.1, CCDS41773.1, CCDS44860.1, CCDS44861.1, CCDS55817.1	12q12	2006-10-24				ENSG00000134283			19369	protein-coding gene	gene with protein product		608150					Standard	NM_016488		Approved		uc001rng.1	Q8NEY8		ENST00000395568.2:c.957G>A	12.37:g.42835164G>A			E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	CCDS31777.1																																																																																				0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		8	116	8	116
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr17:7577129A>G	ENST00000269305.4	-	8	998	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000420246.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)	ACGCACCTCAAAGCTGTTCCG	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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(1)|pancreas(1)											57.0	50.0	53.0					17																	7577129		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.809T>C	17.37:g.7577129A>G	ENSP00000269305:p.Phe270Ser		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	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262404	0.80358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	5.13	5.13	0.70059	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	0.99806	0.9916	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.83275	0.996;0.931;0.996;0.996	D	0.96817	0.9601	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	270;270;270;270;270;259;138	ENSP00000352610:F270S;ENSP00000269305:F270S;ENSP00000398846:F270S;ENSP00000391127:F270S;ENSP00000391478:F270S;ENSP00000425104:F138S	ENSP00000269305:F270S	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	11	8	11
PIEZO2	63895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	10671757	10671757	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr18:10671757A>T	ENST00000503781.3	-	52	8025	c.8026T>A	c.(8026-8028)Tca>Aca	p.S2676T	PIEZO2_ENST00000538948.1_Missense_Mutation_p.S633T|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S468T|PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2701T|PIEZO2_ENST00000302079.6_Missense_Mutation_p.S2613T|PIEZO2_ENST00000581680.1_5'UTR	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2676					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										AGGACAACTGAAGCATATAAT	0.318																																																0													62.0	65.0	64.0					18																	10671757		2203	4300	6503	SO:0001583	missense	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.8026T>A	18.37:g.10671757A>T	ENSP00000421377:p.Ser2676Thr		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37		.	.	.	.	.	.	.	.	.	.	A	17.79	3.475790	0.63737	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	D;T;T	0.83335	-1.71;-0.56;-0.56	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000014	D	0.86485	0.5944	L	0.47716	1.5	0.35743	D	0.818804	D	0.89917	1.0	D	0.91635	0.999	D	0.85185	0.1006	10	0.12430	T	0.62	.	14.6014	0.68443	1.0:0.0:0.0:0.0	.	570	D6RFZ0	.	T	570;2676;633;468	ENSP00000303316:S2676T;ENSP00000443129:S633T;ENSP00000285141:S468T	ENSP00000285141:S468T	S	-	1	0	FAM38B	10661757	1.000000	0.71417	0.477000	0.27303	0.865000	0.49528	9.097000	0.94193	2.042000	0.60477	0.460000	0.39030	TCA		0.318	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		12	92	12	92
ZNF791	163049	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	12739849	12739849	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:12739849G>T	ENST00000343325.4	+	4	1668	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF791_ENST00000540038.1_Silent_p.G393G|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.G470G	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAATGCGGGAAGGCCTTTA	0.388																																																0													77.0	79.0	79.0					19																	12739849		2203	4300	6503	SO:0001819	synonymous_variant	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1506G>T	19.37:g.12739849G>T			B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	CCDS12273.1																																																																																				0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		41	63	41	63
ZNF571	51276	hgsc.bcm.edu;ucsc.edu	37	19	38055540	38055540	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:38055540C>T	ENST00000328550.2	-	4	1889	c.1790G>A	c.(1789-1791)tGt>tAt	p.C597Y	ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C597Y|ZNF571_ENST00000451802.2_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C597Y			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	597					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)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGAAGGACATCTAAAGTC	0.373																																																0													62.0	58.0	59.0					19																	38055540		2203	4300	6503	SO:0001583	missense	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1790G>A	19.37:g.38055540C>T	ENSP00000333660:p.Cys597Tyr		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.639968	0.00799	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.59638	0.25;0.25;0.25	3.37	2.33	0.28932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25195	0.0612	N	0.03967	-0.31	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29274	-1.0017	9	0.02654	T	1	.	5.1844	0.15176	0.0:0.7265:0.0:0.2735	.	597	Q7Z3V5	ZN571_HUMAN	Y	597	ENSP00000333660:C597Y;ENSP00000392638:C597Y;ENSP00000351594:C597Y	ENSP00000333660:C597Y	C	-	2	0	ZNF571	42747380	0.000000	0.05858	0.022000	0.16811	0.080000	0.17528	-1.898000	0.01602	0.603000	0.29913	0.460000	0.39030	TGT		0.373	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		12	31	12	31
TMEM82	388595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	16074101	16074101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:16074101C>A	ENST00000375782.1	+	6	1144	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	336						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGGCACCCCAGTCCCAGAG	0.602																																																0													84.0	85.0	85.0					1																	16074101		2203	4300	6503	SO:0001583	missense	388595				CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.1006C>A	1.37:g.16074101C>A	ENSP00000364938:p.Gln336Lys		B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	C	1.862	-0.462294	0.04508	.	.	ENSG00000162460	ENST00000375782	T	0.40756	1.02	3.78	1.82	0.25136	.	1.990530	0.02987	N	0.146355	T	0.32793	0.0841	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.12426	-1.0548	10	0.07482	T	0.82	0.507	4.1269	0.10131	0.2293:0.6467:0.0:0.124	.	336	A0PJX8	TMM82_HUMAN	K	336	ENSP00000364938:Q336K	ENSP00000364938:Q336K	Q	+	1	0	TMEM82	15946688	0.000000	0.05858	0.270000	0.24601	0.076000	0.17211	-0.301000	0.08232	0.256000	0.21614	0.467000	0.42956	CAG		0.602	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641		26	65	26	65
OR2T11	127077	hgsc.bcm.edu;broad.mit.edu	37	1	248789593	248789593	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488																																																0													100.0	97.0	98.0					1																	248789593		2054	4234	6288	SO:0001819	synonymous_variant	127077			BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.837G>A	1.37:g.248789593C>T			Q6IEY6	Silent	SNP	ENST00000330803.2	37	CCDS31122.1																																																																																				0.488	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		11	111	11	111
PPP1R16B	26051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	37536526	37536526	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr20:37536526C>T	ENST00000299824.1	+	9	1165	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PPP1R16B_ENST00000373331.2_Silent_p.L284L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	326					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAAGTCACAGCTGAGGCACAA	0.592																																																0													65.0	61.0	62.0					20																	37536526		2203	4300	6503	SO:0001819	synonymous_variant	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.976C>T	20.37:g.37536526C>T			A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	CCDS13309.1																																																																																				0.592	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		18	44	18	44
KRTAP13-4	284827	hgsc.bcm.edu;ucsc.edu	37	21	31802769	31802769	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr21:31802769C>T	ENST00000334068.2	+	1	198	c.176C>T	c.(175-177)gCc>gTc	p.A59V		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	59	4 X 10 AA approximate repeats.		A -> T (in dbSNP:rs2226548). {ECO:0000269|PubMed:15489334}.			intermediate filament (GO:0005882)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TGGGAGCCCGCCAGCTGCCAG	0.617																																					NSCLC(196;2401 3038 18004 35753)											0													59.0	59.0	59.0					21																	31802769		2203	4300	6503	SO:0001583	missense	284827			AP001708	CCDS13592.1	21q22.1	2006-03-13			ENSG00000186971	ENSG00000186971		"""Keratin associated proteins"""	18926	protein-coding gene	gene with protein product						12359730	Standard	NM_181600		Approved	KAP13.4	uc011acw.2	Q3LI77	OTTHUMG00000057770	ENST00000334068.2:c.176C>T	21.37:g.31802769C>T	ENSP00000334834:p.Ala59Val		A2RRL3	Missense_Mutation	SNP	ENST00000334068.2	37	CCDS13592.1	.	.	.	.	.	.	.	.	.	.	-	8.579	0.881838	0.17467	.	.	ENSG00000186971	ENST00000334068	T	0.02944	4.1	4.95	-6.96	0.01622	.	1.375280	0.05046	N	0.477219	T	0.01489	0.0048	N	0.04508	-0.205	0.09310	N	1	B	0.19331	0.035	B	0.18561	0.022	T	0.49418	-0.8942	10	0.45353	T	0.12	.	7.3686	0.26787	0.0:0.2896:0.2313:0.4791	.	59	Q3LI77	KR134_HUMAN	V	59	ENSP00000334834:A59V	ENSP00000334834:A59V	A	+	2	0	KRTAP13-4	30724640	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.540000	0.02200	-1.382000	0.02109	-0.181000	0.13052	GCC		0.617	KRTAP13-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128222.1			9	89	9	89
LMF2	91289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	rs149785243		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr22:50944111G>A	ENST00000474879.2	-	6	923	c.908C>T	c.(907-909)aCg>aTg	p.T303M	NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.T278M|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.T303M|NCAPH2_ENST00000420993.2_5'Flank	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642																																																0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	39.0	43.0	42.0		908	-6.8	0.0	22	dbSNP_134	42	0,8600		0,0,4300	no	missense	LMF2	NM_033200.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	303/708	50944111	1,13005	2203	4300	6503	SO:0001583	missense	91289			BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.908C>T	22.37:g.50944111G>A	ENSP00000424381:p.Thr303Met		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	G	3.098	-0.185364	0.06340	2.27E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.24151	1.87;1.87;1.87	4.79	-6.81	0.01704	.	1.253180	0.05123	N	0.491092	T	0.11024	0.0269	N	0.16790	0.44	0.09310	N	1	B;P	0.35793	0.036;0.521	B;B	0.20767	0.021;0.031	T	0.23440	-1.0188	10	0.46703	T	0.11	0.0147	7.7721	0.29015	0.6114:0.0:0.2756:0.113	.	303;278	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	M	303;303;278	ENSP00000370173:T303M;ENSP00000424381:T303M;ENSP00000216080:T278M	ENSP00000216080:T278M	T	-	2	0	LMF2	49290977	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.787000	0.01764	-1.263000	0.02455	-0.302000	0.09304	ACG		0.642	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		17	30	17	30
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	198268407	198268407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:198268407A>G	ENST00000335508.6	-	12	1712	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	541	Interaction with SF3B14.				anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTAGGAGACATCAGCAGA	0.408			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													100.0	99.0	99.0					2																	198268407		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1621T>C	2.37:g.198268407A>G	ENSP00000335321:p.Ser541Pro		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	A	32	5.135049	0.94517	.	.	ENSG00000115524	ENST00000335508	T	0.71222	-0.55	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.89214	3.015	0.80722	D	1	P	0.48407	0.91	P	0.52793	0.709	D	0.86055	0.1528	10	0.62326	D	0.03	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	541	O75533	SF3B1_HUMAN	P	541	ENSP00000335321:S541P	ENSP00000335321:S541P	S	-	1	0	SF3B1	197976652	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.169000	0.94788	2.371000	0.80710	0.533000	0.62120	TCT		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			27	22	27	22
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	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			27	53	27	53
HTR2B	3357	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	231973908	231973908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:231973908G>A	ENST00000258400.3	-	4	1281	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	257					activation of phospholipase C activity (GO:0007202)|behavior (GO:0007610)|calcium-mediated signaling (GO:0019722)|cardiac muscle hypertrophy (GO:0003300)|cellular calcium ion homeostasis (GO:0006874)|cellular response to temperature stimulus (GO:0071502)|cGMP biosynthetic process (GO:0006182)|embryonic morphogenesis (GO:0048598)|ERK1 and ERK2 cascade (GO:0070371)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|heart morphogenesis (GO:0003007)|intestine smooth muscle contraction (GO:0014827)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell death (GO:0060548)|neural crest cell differentiation (GO:0014033)|neural crest cell migration (GO:0001755)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphorylation (GO:0016310)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	drug binding (GO:0008144)|G-protein alpha-subunit binding (GO:0001965)|Ras GTPase activator activity (GO:0005099)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Amoxapine(DB00543)|Apomorphine(DB00714)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Dihydroergotamine(DB00320)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Lisuride(DB00589)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Ropinirole(DB00268)|Triflupromazine(DB00508)|Yohimbine(DB01392)	GTTAGGCGTTGAGGTGGCTTG	0.453																																					Ovarian(155;1331 1891 12853 14038 34991)											0													151.0	136.0	141.0					2																	231973908		2203	4300	6503	SO:0001587	stop_gained	3357				CCDS2483.1	2q36.3-q37.1	2012-08-08	2012-02-03		ENSG00000135914	ENSG00000135914		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5294	protein-coding gene	gene with protein product		601122	"""5-hydroxytryptamine (serotonin) receptor 2B"""			8143856	Standard	NM_000867		Approved	5-HT(2B), 5-HT2B	uc002vro.3	P41595	OTTHUMG00000133222	ENST00000258400.3:c.769C>T	2.37:g.231973908G>A	ENSP00000258400:p.Gln257*		B2R9D5|Q53TI1|Q62221|Q6P523	Nonsense_Mutation	SNP	ENST00000258400.3	37	CCDS2483.1	.	.	.	.	.	.	.	.	.	.	G	39	7.530756	0.98342	.	.	ENSG00000135914	ENST00000258400	.	.	.	5.48	5.48	0.80851	.	0.224693	0.47093	D	0.000256	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3483	0.94374	0.0:0.0:1.0:0.0	.	.	.	.	X	257	.	ENSP00000258400:Q257X	Q	-	1	0	HTR2B	231682152	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	6.750000	0.74888	2.555000	0.86185	0.655000	0.94253	CAA		0.453	HTR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256957.2	NM_000867		44	64	44	64
MAP3K13	9175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	185161416	185161416	+	Silent	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr3:185161416A>G	ENST00000265026.3	+	4	1177	c.843A>G	c.(841-843)aaA>aaG	p.K281K	snoU13_ENST00000459417.1_RNA|MAP3K13_ENST00000535426.1_Silent_p.K137K|MAP3K13_ENST00000443863.1_Silent_p.K137K|MAP3K13_ENST00000446828.1_Silent_p.K74K|MAP3K13_ENST00000424227.1_Silent_p.K281K	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGATCTCAAATCACCTAAGT	0.378																																																0													93.0	90.0	91.0					3																	185161416		2203	4300	6503	SO:0001819	synonymous_variant	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.843A>G	3.37:g.185161416A>G				Silent	SNP	ENST00000265026.3	37	CCDS3270.1																																																																																				0.378	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		39	61	39	61
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	187524637	187524637	+	Silent	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr4:187524637A>G	ENST00000441802.2	-	19	11252	c.11043T>C	c.(11041-11043)gtT>gtC	p.V3681V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3681					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCAAACTAACAATCTGTA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)											0													68.0	69.0	69.0					4																	187524637		2033	4197	6230	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11043T>C	4.37:g.187524637A>G				Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	26	7	26
HSD17B4	3295	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	118867014	118867014	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:118867014G>A	ENST00000256216.6	+	22	2041	c.1908G>A	c.(1906-1908)aaG>aaA	p.K636K	HSD17B4_ENST00000509514.1_Silent_p.K374K|HSD17B4_ENST00000513628.1_Silent_p.K499K|HSD17B4_ENST00000515320.1_Silent_p.K618K|HSD17B4_ENST00000414835.2_Silent_p.K496K|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Silent_p.K661K|HSD17B4_ENST00000510025.1_Silent_p.K612K	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	636	SCP2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GCCGCCTAAAGGATATTGGGC	0.403																																					Colon(35;490 801 34689 41394 43344)											0													95.0	94.0	94.0					5																	118867014		2202	4300	6502	SO:0001819	synonymous_variant	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1908G>A	5.37:g.118867014G>A			B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	ENST00000256216.6	37	CCDS4126.1																																																																																				0.403	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		39	50	39	50
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150925553	150925553	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:150925553A>G	ENST00000261800.5	-	9	5147	c.5135T>C	c.(5134-5136)aTt>aCt	p.I1712T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1712	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGGAAATAAGGCCAGA	0.443																																																0													93.0	96.0	95.0					5																	150925553		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.5135T>C	5.37:g.150925553A>G	ENSP00000261800:p.Ile1712Thr		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521540	0.64747	.	.	ENSG00000086570	ENST00000261800	T	0.70749	-0.51	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.109062	0.41396	D	0.000889	D	0.88540	0.6464	H	0.95224	3.64	0.53688	D	0.999971	D	0.89917	1.0	D	0.77557	0.99	D	0.92008	0.5616	10	0.87932	D	0	.	15.1455	0.72647	1.0:0.0:0.0:0.0	.	1712	Q9NYQ8	FAT2_HUMAN	T	1712	ENSP00000261800:I1712T	ENSP00000261800:I1712T	I	-	2	0	FAT2	150905746	1.000000	0.71417	0.951000	0.38953	0.948000	0.59901	9.262000	0.95591	1.994000	0.58287	0.383000	0.25322	ATT		0.443	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		68	66	68	66
TIMD4	91937	hgsc.bcm.edu;broad.mit.edu	37	5	156349194	156349194	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:156349194T>A	ENST00000274532.2	-	7	984	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	TIMD4_ENST00000406964.1_Missense_Mutation_p.M12L|TIMD4_ENST00000407087.3_Missense_Mutation_p.M282L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	310						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATGGGCATTTCATTCTTC	0.517																																																0													214.0	191.0	199.0					5																	156349194		2203	4300	6503	SO:0001583	missense	91937			BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.928A>T	5.37:g.156349194T>A	ENSP00000274532:p.Met310Leu		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	T	6.578	0.475039	0.12521	.	.	ENSG00000145850	ENST00000274532;ENST00000406964;ENST00000407087	T;T;T	0.39229	2.46;1.09;2.52	2.72	0.084	0.14436	.	4.055720	0.00855	N	0.001865	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.13764	-1.0497	10	0.16896	T	0.51	1.6085	6.8703	0.24117	0.0:0.0:0.4881:0.5119	.	282;310	B5MCL9;Q96H15	.;TIMD4_HUMAN	L	310;12;282	ENSP00000274532:M310L;ENSP00000385882:M12L;ENSP00000385973:M282L	ENSP00000274532:M310L	M	-	1	0	TIMD4	156281772	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	0.449000	0.21744	0.024000	0.15214	-0.321000	0.08615	ATG		0.517	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		6	68	6	68
KLHDC3	116138	hgsc.bcm.edu;broad.mit.edu	37	6	42986679	42986679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr6:42986679G>A	ENST00000326974.4	+	8	1094	c.899G>A	c.(898-900)gGt>gAt	p.G300D	RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G166D|KLHDC3_ENST00000332245.8_Missense_Mutation_p.G241D	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	300					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTATTGTTGGTGACAAGATT	0.512																																																0													63.0	72.0	69.0					6																	42986679		2202	4300	6502	SO:0001583	missense	116138			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.899G>A	6.37:g.42986679G>A	ENSP00000313995:p.Gly300Asp		A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474834	0.84640	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.68624	-0.34;-0.34;-0.34	5.41	5.41	0.78517	.	0.158508	0.56097	N	0.000030	T	0.76716	0.4026	M	0.67700	2.07	0.80722	D	1	B;P;D;D	0.63046	0.136;0.942;0.977;0.992	B;P;P;D	0.63793	0.126;0.543;0.564;0.918	T	0.77236	-0.2662	10	0.59425	D	0.04	-4.2416	19.5682	0.95404	0.0:0.0:1.0:0.0	.	300;241;166;300	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	D	300;300;166;300;273;241	ENSP00000313995:G300D;ENSP00000244670:G166D;ENSP00000331562:G241D	ENSP00000244670:G166D	G	+	2	0	KLHDC3	43094657	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.095000	0.94175	2.706000	0.92434	0.205000	0.17691	GGT		0.512	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		8	127	8	127
XK	7504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	37587096	37587096	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:37587096T>A	ENST00000378616.3	+	3	919	c.716T>A	c.(715-717)gTt>gAt	p.V239D	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	239					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGGGTGGTGGTTATAATACTC	0.498																																																0													140.0	108.0	119.0					X																	37587096		2202	4300	6502	SO:0001583	missense	7504			Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.716T>A	X.37:g.37587096T>A	ENSP00000367879:p.Val239Asp		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	T	6.753	0.507860	0.12883	.	.	ENSG00000047597	ENST00000378616	T	0.65549	-0.16	5.41	0.188	0.15114	.	0.508561	0.23844	N	0.044005	T	0.42539	0.1207	N	0.14661	0.345	0.09310	N	1	B	0.33238	0.403	B	0.35413	0.202	T	0.34950	-0.9808	10	0.46703	T	0.11	-0.3981	10.7902	0.46428	0.0:0.6339:0.0:0.3661	.	239	P51811	XK_HUMAN	D	239	ENSP00000367879:V239D	ENSP00000367879:V239D	V	+	2	0	XK	37472035	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.875000	0.28079	-0.059000	0.13154	0.486000	0.48141	GTT		0.498	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		13	30	13	30
USP11	8237	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	47101045	47101045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:47101045G>A	ENST00000218348.3	+	9	1255	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	USP11_ENST00000377107.2_Missense_Mutation_p.V376M	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	419	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCTTAATCGGGTGAAGAAGAA	0.557																																																0													121.0	99.0	107.0					X																	47101045		2203	4300	6503	SO:0001583	missense	8237			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1255G>A	X.37:g.47101045G>A	ENSP00000218348:p.Val419Met		B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651134	0.67472	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.30981	1.51;1.51	5.36	4.5	0.54988	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.071960	0.56097	D	0.000039	T	0.54951	0.1890	M	0.82823	2.61	0.43283	D	0.995254	D;D	0.71674	0.998;0.995	D;D	0.72982	0.979;0.917	T	0.58719	-0.7587	10	0.87932	D	0	-17.2591	9.3178	0.37946	0.1781:0.0:0.8219:0.0	.	146;419	B3KP28;P51784	.;UBP11_HUMAN	M	376;419	ENSP00000366311:V376M;ENSP00000218348:V419M	ENSP00000218348:V419M	V	+	1	0	USP11	46985989	1.000000	0.71417	0.990000	0.47175	0.988000	0.76386	2.993000	0.49425	1.038000	0.40049	0.600000	0.82982	GTG		0.557	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		36	29	36	29
XKRX	402415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	100169558	100169558	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:100169558T>A	ENST00000372956.2	-	3	1723	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000328526.5_Missense_Mutation_p.K386N			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	373						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCAGTAACACTTTCACTCCAA	0.423																																																0													185.0	155.0	165.0					X																	100169558		2203	4300	6503	SO:0001583	missense	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1119A>T	X.37:g.100169558T>A	ENSP00000362047:p.Lys373Asn		B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	T	14.34	2.504933	0.44558	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.63744	-0.06;-0.06	5.74	3.32	0.38043	.	0.147793	0.64402	D	0.000015	T	0.53012	0.1770	L	0.44542	1.39	0.32507	N	0.538024	D	0.53312	0.959	P	0.49922	0.626	T	0.60880	-0.7175	10	0.39692	T	0.17	-11.4297	0.2235	0.00171	0.3177:0.2616:0.1617:0.259	.	373	Q6PP77	XKR2_HUMAN	N	386;373	ENSP00000327570:K386N;ENSP00000362047:K373N	ENSP00000327570:K386N	K	-	3	2	XKRX	100056214	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	0.843000	0.27640	0.752000	0.32923	0.437000	0.28790	AAA		0.423	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		97	123	97	123
PDZD4	57595	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	153069774	153069774	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:153069774G>T	ENST00000164640.4	-	8	1535	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	PDZD4_ENST00000393758.2_Silent_p.P373P|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Silent_p.P339P	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	448						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCTTCTTGGGCTCGCTGG	0.652																																																0													34.0	32.0	33.0					X																	153069774		2201	4292	6493	SO:0001819	synonymous_variant	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1344C>A	X.37:g.153069774G>T			B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	CCDS14732.1																																																																																				0.652	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		18	47	18	47
GNPDA1	10007	broad.mit.edu;ucsc.edu	37	5	141381656	141381656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:141381656A>G	ENST00000508177.1	-	6	1566	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	GNPDA1_ENST00000503794.1_Missense_Mutation_p.Y270H|GNPDA1_ENST00000311337.6_Missense_Mutation_p.Y270H|GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.Y270H|GNPDA1_ENST00000458112.2_Missense_Mutation_p.Y236H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.Y193H			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	270					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucosamine catabolic process (GO:0006043)|N-acetylglucosamine metabolic process (GO:0006044)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATACTGTACAAGGGGTCC	0.388																																																0													124.0	118.0	120.0					5																	141381656		2203	4300	6503	SO:0001583	missense	10007			AF048826	CCDS4272.1	5q21	2008-02-05	2003-10-17	2003-10-22	ENSG00000113552	ENSG00000113552	3.5.99.6		4417	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate deaminase"", ""oscillin"""	601798	"""glucosamine-6-phosphate isomerase"""	GNPI		9714720, 9438414	Standard	NM_005471		Approved	GNPDA, HLN, GPI, KIAA0060	uc010jgh.3	P46926	OTTHUMG00000129657	ENST00000508177.1:c.808T>C	5.37:g.141381656A>G	ENSP00000423674:p.Tyr270His		B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	CCDS4272.1	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450686	0.43531	.	.	ENSG00000113552	ENST00000311337;ENST00000458112;ENST00000500692;ENST00000508177;ENST00000503794;ENST00000542860;ENST00000504139	T;T;T;T;T;T	0.45276	0.92;0.91;0.92;0.92;0.92;0.9	5.73	5.73	0.89815	.	0.361486	0.28847	N	0.013942	T	0.30916	0.0780	N	0.22421	0.69	0.42436	D	0.992695	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.08932	-1.0698	10	0.21014	T	0.42	-21.1097	16.0082	0.80377	1.0:0.0:0.0:0.0	.	236;270	E7EVU7;P46926	.;GNPI1_HUMAN	H	270;236;270;270;270;193;236	ENSP00000311876:Y270H;ENSP00000387718:Y236H;ENSP00000424275:Y270H;ENSP00000423674:Y270H;ENSP00000423485:Y270H;ENSP00000445143:Y193H	ENSP00000311876:Y270H	Y	-	1	0	GNPDA1	141361840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.113000	0.50376	2.183000	0.69458	0.533000	0.62120	TAC		0.388	GNPDA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370631.1	NM_005471		13	36	13	36
SLC25A53	401612	broad.mit.edu;ucsc.edu	37	X	103349504	103349504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:103349504C>T	ENST00000357421.4	-	2	617	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	146					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R146H(1)									AGCTTGCTTGCGACCATCCTG	0.587																																																1	Substitution - Missense(1)	large_intestine(1)											100.0	105.0	103.0					X																	103349504		2203	4300	6503	SO:0001583	missense	401612				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.437G>A	X.37:g.103349504C>T	ENSP00000361681:p.Arg146His		B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.774540	0.49786	.	.	ENSG00000176274	ENST00000357421	T	0.79554	-1.28	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.144296	0.48286	D	0.000186	D	0.85221	0.5647	L	0.48986	1.54	0.41923	D	0.990521	D	0.89917	1.0	D	0.68353	0.957	D	0.85792	0.1368	10	0.49607	T	0.09	-17.9312	13.1831	0.59666	0.0:1.0:0.0:0.0	.	146	Q5H9E4	MCAR6_HUMAN	H	146	ENSP00000361681:R146H	ENSP00000361681:R146H	R	-	2	0	MCART6	103236160	0.993000	0.37304	0.999000	0.59377	0.985000	0.73830	1.373000	0.34272	2.061000	0.61500	0.594000	0.82650	CGC		0.587	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	NM_001012755		72	106	72	106
OR9A2	135924	broad.mit.edu;ucsc.edu	37	7	142723665	142723665	+	Silent	SNP	G	G	A	rs372529476		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr7:142723665G>A	ENST00000350513.2	-	1	617	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTGTTATCGCAGGACAGTT	0.393																																																0								G		2,4404	4.2+/-10.8	0,2,2201	92.0	92.0	92.0		555	2.1	1.0	7		92	0,8598		0,0,4299	no	coding-synonymous	OR9A2	NM_001001658.1		0,2,6500	AA,AG,GG		0.0,0.0454,0.0154		185/311	142723665	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	135924				CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.555C>T	7.37:g.142723665G>A			B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	CCDS34767.1																																																																																				0.393	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			49	191	49	191
NUMA1	4926	broad.mit.edu;ucsc.edu	37	11	71718269	71718269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:71718269C>T	ENST00000393695.3	-	21	5760	c.5429G>A	c.(5428-5430)cGc>cAc	p.R1810H	NUMA1_ENST00000351960.6_Missense_Mutation_p.R674H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1796H	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCGTGGTGCGCCGACGAGC	0.632			T	RARA	APL																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													35.0	36.0	36.0					11																	71718269		2200	4293	6493	SO:0001583	missense	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.5429G>A	11.37:g.71718269C>T	ENSP00000377298:p.Arg1810His			Missense_Mutation	SNP	ENST00000393695.3	37	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.059062|5.059062	0.93846|0.93846	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T;T	.|0.51071	.|0.72;0.88;1.07	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.000000	.|0.56097	.|D	.|0.000029	T|T	0.59183|0.59183	0.2175|0.2175	L|L	0.29908|0.29908	0.895|0.895	0.50632|0.50632	D|D	0.999884|0.999884	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.998;0.996	T|T	0.62765|0.62765	-0.6785|-0.6785	5|10	.|0.72032	.|D	.|0.01	.|.	18.2619|18.2619	0.90038|0.90038	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1816;1796;1810;674	.|Q4LE64;Q14980-2;Q14980;Q9BTE9	.|.;.;NUMA1_HUMAN;.	T|H	659|674;1796;1810;1359;783	.|ENSP00000260051:R674H;ENSP00000351851:R1796H;ENSP00000377298:R1810H	.|ENSP00000260051:R674H	A|R	-|-	1|2	0|0	NUMA1|NUMA1	71395917|71395917	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.977000|0.977000	0.68977|0.68977	5.827000|5.827000	0.69300|0.69300	2.702000|2.702000	0.92279|0.92279	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.632	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	24	4	24
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu	37	19	11144096	11144098	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:11144096_11144098delAGA	ENST00000429416.3	+	27	3958_3960	c.3677_3679delAGA	c.(3676-3681)cagaag>cag	p.K1227del	SMARCA4_ENST00000358026.2_In_Frame_Del_p.K1227del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1227del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1227del	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1227	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACGTGGACCAGAAGGTGATCCA	0.616			"""F, N, Mis"""		NSCLC																																		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)																																								SO:0001651	inframe_deletion	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3677_3679delAGA	19.37:g.11144096_11144098delAGA	ENSP00000395654:p.Lys1227del		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	CCDS12253.1																																																																																				0.616	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		48	104	48	104
IL4I1	259307	broad.mit.edu;hgsc.bcm.edu	37	19	50394683	50394685	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:50394683_50394685delCTT	ENST00000391826.2	-	6	755_757	c.613_615delAAG	c.(613-615)aagdel	p.K205del	IL4I1_ENST00000341114.3_In_Frame_Del_p.K227del|IL4I1_ENST00000595948.1_In_Frame_Del_p.K227del	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	205						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GCCTTTCAAACTTCTTCATCGCC	0.571																																																0																																										SO:0001651	inframe_deletion	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.613_615delAAG	19.37:g.50394686_50394688delCTT	ENSP00000375702:p.Lys205del		Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	In_Frame_Del	DEL	ENST00000391826.2	37	CCDS12787.1																																																																																				0.571	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			22	104	22	104
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76940037	76940038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:76940037_76940038insT	ENST00000373344.5	-	9	924_925	c.710_711insA	c.(709-711)aatfs	p.N237fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N199fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	237	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				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						TGCAGAAAGCATTATGGCAAAA	0.381			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			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.711dupA	X.37:g.76940039_76940039dupT	ENSP00000362441:p.Asn237fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.381	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		121	136	121	136
