#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF791	163049	broad.mit.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	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.G470G|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.G393G	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																																						ENST00000343325.4																			0				endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						c.(1504-1506)ggG>ggT		zinc finger protein 791							77.0	79.0	79.0					19																	12739849		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739849G>T	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						ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Silent_p.G470G|ZNF791_ENST00000540038.1_Silent_p.G393G	p.G502G	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN			4	1668	+			502					B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.1506G>T	CCDS12273.1																																																																																				0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		41	58	1	0	1.49673e-21	0.086207	1.79608e-21	41	58				
SSX1	6756	broad.mit.edu	37	X	48116711	48116711	+	Missense_Mutation	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:48116711G>T	ENST00000376919.3	+	2	171	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AAGAGACCCAGGGATGATGCT	0.547			T	SS18	synovial sarcoma																																Esophageal Squamous(175;994 1982 2214 6527 18857)	ENST00000376919.3				Dom	yes		X	Xp11.23-p11.22	6756	T	"""synovial sarcoma, X breakpoint 1"""			M	SS18		synovial sarcoma	SS18/SSX1(1169)|SS18L1/SSX1(2)	0				endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(34-36)aGg>aTg		synovial sarcoma, X breakpoint 1							99.0	77.0	85.0					X																	48116711		2203	4299	6502	SO:0001583	missense	6756				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity	g.chrX:48116711G>T	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.35G>T	X.37:g.48116711G>T	ENSP00000366118:p.Arg12Met						p.R12M	NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN			2	171	+			12					A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	ENST00000376919.3	37	c.35G>T	CCDS14290.1	.	.	.	.	.	.	.	.	.	.	N	6.028	0.373546	0.11409	.	.	ENSG00000126752	ENST00000376919	T	0.08102	3.13	1.54	-3.07	0.05363	.	1.667710	0.03153	N	0.168251	T	0.18173	0.0436	L	0.48642	1.525	0.09310	N	1	D	0.61697	0.99	D	0.71656	0.974	T	0.22591	-1.0212	10	0.54805	T	0.06	.	3.6853	0.08326	0.3333:0.4103:0.2564:0.0	.	12	Q16384	SSX1_HUMAN	M	12	ENSP00000366118:R12M	ENSP00000366118:R12M	R	+	2	0	SSX1	48001655	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.682000	0.00394	-1.455000	0.01923	-1.144000	0.01866	AGG		0.547	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056485.1	NM_005635		4	64	1	0	1.23904e-05	0.014758	1.31192e-05	4	64				
TNFRSF10D	8793	broad.mit.edu	37	8	23004486	23004486	+	Missense_Mutation	SNP	G	G	A	rs149074636		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.chr8:23004486G>A	ENST00000312584.3	-	4	564	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	157					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGTTCTACACGTCCGGCACAT	0.507													.|||	1	0.000199681	0.0	0.0014	5008	,	,		15609	0.0		0.0	False		,,,				2504	0.0					ENST00000312584.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(469-471)aCg>aTg		tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	126.0	125.0	125.0		470	-3.9	0.0	8	dbSNP_134	125	11,8589	8.4+/-32.0	0,11,4289	yes	missense	TNFRSF10D	NM_003840.3	81	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	possibly-damaging	157/387	23004486	12,12994	2203	4300	6503	SO:0001583	missense	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23004486G>A	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.470C>T	8.37:g.23004486G>A	ENSP00000310263:p.Thr157Met						p.T157M	NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	4	564	-		Prostate(55;0.0421)|Breast(100;0.067)	157					B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	37	c.470C>T	CCDS6038.1	.	.	.	.	.	.	.	.	.	.	g	4.888	0.164961	0.09339	2.27E-4	0.001279	ENSG00000173530	ENST00000312584	D	0.91237	-2.81	1.93	-3.87	0.04218	TNFR/CD27/30/40/95 cysteine-rich region (4);	1.090610	0.07223	U	0.861185	T	0.78027	0.4219	N	0.19112	0.55	0.09310	N	1	P	0.44195	0.828	B	0.25140	0.058	T	0.68307	-0.5443	10	0.87932	D	0	.	10.6211	0.45481	0.0:0.0:0.7487:0.2513	.	157	Q9UBN6	TR10D_HUMAN	M	157	ENSP00000310263:T157M	ENSP00000310263:T157M	T	-	2	0	TNFRSF10D	23060431	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.516000	0.02250	-1.398000	0.02066	-0.532000	0.04303	ACG		0.507	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			5	100	0	0	0	0.014758	0	5	100				
FAT2	2196	broad.mit.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																																						ENST00000261800.5																			0				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						c.(5134-5136)aTt>aCt		FAT atypical cadherin 2							93.0	96.0	95.0					5																	150925553		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150925553A>G	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						p.I1712T	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	5147	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1712			Cadherin 15.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.5135T>C	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	64	0	0	0	0.139131	0	68	64				
TP53	7157	broad.mit.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_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.F270S|TP53_ENST00000455263.2_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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	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)	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)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(808-810)tTt>tCt	Other conserved DNA damage response genes	tumor protein p53							57.0	50.0	53.0					17																	7577129		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577129A>G	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	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000269305.4_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron	p.F270S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	941	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	270		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).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.809T>C	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	0	0	0	0.038147	0	8	11				
PDZD4	57595	broad.mit.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																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(1342-1344)ccC>ccA		PDZ domain containing 4							34.0	32.0	33.0					X																	153069774		2201	4292	6493	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153069774G>T	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						PDZD4_ENST00000393758.2_Silent_p.P373P|PDZD4_ENST00000544474.1_Silent_p.P339P	p.P448P	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			8	1535	-	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)		448					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.1344C>A	CCDS14732.1																																																																																				0.652	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		8	41	1	0	9.16793e-09	0.033300	1.05334e-08	8	41				
KLHDC3	116138	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	KLHDC3_ENST00000244670.8_Missense_Mutation_p.G166D|RRP36_ENST00000244496.5_5'Flank|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																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(898-900)gGt>gAt		kelch domain containing 3							63.0	72.0	69.0					6																	42986679		2202	4300	6502	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986679G>A	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					KLHDC3_ENST00000332245.8_Missense_Mutation_p.G241D|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G166D	p.G300D	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	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)		8	1094	+			300					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.899G>A	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		7	117	0	0	0	0.047766	0	7	117				
PPHLN1	51535	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_ENST00000317560.9_Silent_p.L252L|PPHLN1_ENST00000549190.1_Silent_p.L337L|PPHLN1_ENST00000449194.2_Silent_p.L300L|PPHLN1_ENST00000337898.6_Silent_p.L264L|PPHLN1_ENST00000256678.8_Silent_p.L199L|PPHLN1_ENST00000432191.2_Silent_p.L264L|PPHLN1_ENST00000552761.1_Silent_p.L271L|PPHLN1_ENST00000358314.7_Silent_p.L319L|PPHLN1_ENST00000395580.3_Silent_p.L326L	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																																						ENST00000432191.2																			0				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(790-792)ctG>ctA		periphilin 1							176.0	172.0	173.0					12																	42835164		2203	4300	6503	SO:0001819	synonymous_variant	51535				keratinization	cytoplasm|nucleus		g.chr12:42835164G>A	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						PPHLN1_ENST00000337898.6_Silent_p.L264L|PPHLN1_ENST00000552761.1_Silent_p.L271L|PPHLN1_ENST00000256678.8_Silent_p.L199L|PPHLN1_ENST00000549190.1_Silent_p.L337L|PPHLN1_ENST00000317560.9_Silent_p.L252L|PPHLN1_ENST00000449194.2_Silent_p.L300L|PPHLN1_ENST00000358314.7_Silent_p.L319L|PPHLN1_ENST00000395568.2_Silent_p.L319L|PPHLN1_ENST00000395580.3_Silent_p.L326L	p.L264L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN		GBM - Glioblastoma multiforme(48;0.0875)	9	864	+	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)	319					E9PAX8|Q86YT2|Q8IXN3|Q8TB09|Q96NB9|Q9NXL4|Q9P0P6|Q9P0R9	Silent	SNP	ENST00000395568.2	37	c.792G>A	CCDS31777.1																																																																																				0.368	PPHLN1-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404047.1	NM_201515		7	107	0	0	0	0.047766	0	7	107				
CDK19	23097	broad.mit.edu	37	6	110935837	110935837	+	Missense_Mutation	SNP	G	G	T	rs149781625	byFrequency	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.chr6:110935837G>T	ENST00000368911.3	-	13	1589	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	CDK19_ENST00000323817.3_Missense_Mutation_p.S410R|CDK19_ENST00000413605.2_Missense_Mutation_p.S346R	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	470	Ser-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATCCCTGAACGCTGCTTTGGT	0.522																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(1408-1410)agC>agA		cyclin-dependent kinase 19							144.0	129.0	134.0					6																	110935837		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110935837G>T	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1410C>A	6.37:g.110935837G>T	ENSP00000357907:p.Ser470Arg					CDK19_ENST00000413605.2_Missense_Mutation_p.S346R|CDK19_ENST00000323817.3_Missense_Mutation_p.S410R	p.S470R	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			13	1589	-			470			Ser-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.1410C>A	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905662	0.33628	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	T;T;T	0.29142	1.58;1.58;1.58	5.78	0.96	0.19631	.	0.159798	0.64402	D	0.000002	T	0.07999	0.0200	L	0.29908	0.895	0.24397	N	0.994724	B;B	0.25809	0.135;0.057	B;B	0.29176	0.099;0.057	T	0.36114	-0.9761	10	0.24483	T	0.36	-0.3108	10.3818	0.44117	0.385:0.0:0.615:0.0	.	346;470	B4DUB1;Q9BWU1	.;CDK19_HUMAN	R	470;410;409;346	ENSP00000357907:S470R;ENSP00000317665:S410R;ENSP00000410604:S346R	ENSP00000317665:S410R	S	-	3	2	CDK19	111042530	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	0.654000	0.24918	0.171000	0.19730	0.591000	0.81541	AGC		0.522	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		18	47	1	0	6.49762e-13	0.038395	7.62764e-13	18	47				
XKRX	402415	broad.mit.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_ENST00000328526.5_Missense_Mutation_p.K386N|XKRX_ENST00000468904.1_3'UTR			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																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(1156-1158)aaA>aaT		XK, Kell blood group complex subunit-related, X-linked							185.0	155.0	165.0					X																	100169558		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100169558T>A	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					XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.K373N	p.K386N	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			3	1723	-			373					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.1158A>T	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	117	0	0	0	0.139131	0	97	117				
TMEM82	388595	broad.mit.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																																						ENST00000375782.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13						c.(1006-1008)Cag>Aag		transmembrane protein 82							84.0	85.0	85.0					1																	16074101		2203	4300	6503	SO:0001583	missense	388595					integral to membrane		g.chr1:16074101C>A		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					RP11-169K16.4_ENST00000418525.1_RNA	p.Q336K	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN		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)	6	1144	+		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)	336					B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.1006C>A	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		22	59	1	0	3.08376e-08	0.083992	3.46923e-08	22	59				
TIMD4	91937	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_ENST00000407087.3_Missense_Mutation_p.M282L|TIMD4_ENST00000406964.1_Missense_Mutation_p.M12L	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																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(928-930)Atg>Ttg		T-cell immunoglobulin and mucin domain containing 4							214.0	191.0	199.0					5																	156349194		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156349194T>A	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					TIMD4_ENST00000406964.1_Missense_Mutation_p.M12L|TIMD4_ENST00000407087.3_Missense_Mutation_p.M282L	p.M310L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	984	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	310					B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.928A>T	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		5	64	0	0	0	0.029380	0	5	64				
DLG2	1740	broad.mit.edu	37	11	83676479	83676479	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs199577400	byFrequency	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.chr11:83676479G>A	ENST00000376106.3	-	0	607				DLG2_ENST00000524982.1_Silent_p.H258H|DLG2_ENST00000376104.2_Silent_p.H363H|DLG2_ENST00000531015.1_Silent_p.H225H|DLG2_ENST00000398309.2_Silent_p.H258H|DLG2_ENST00000532653.1_Silent_p.H258H|DLG2_ENST00000537455.1_Silent_p.H12H|DLG2_ENST00000543673.1_Silent_p.H363H|DLG2_ENST00000418306.2_Silent_p.H207H|DLG2_ENST00000280241.8_Silent_p.H297H|DLG2_ENST00000398301.2_Silent_p.H297H|DLG2_ENST00000330014.6_Silent_p.H197H			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)						nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGCCTCTTCGTGTGTTACTT	0.353													g|||	2	0.000399361	0.0008	0.0	5008	,	,		20735	0.001		0.0	False		,,,				2504	0.0					ENST00000376106.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71								discs, large homolog 2 (Drosophila)							266.0	245.0	251.0					11																	83676479		1845	4094	5939			1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83676479G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000376106.3:c.-781C>T	11.37:g.83676479G>A						DLG2_ENST00000543673.1_Silent_p.H363H|DLG2_ENST00000524982.1_Silent_p.H258H|DLG2_ENST00000280241.8_Silent_p.H297H|DLG2_ENST00000537455.1_Silent_p.H12H|DLG2_ENST00000376104.2_Silent_p.H363H|DLG2_ENST00000532653.1_Silent_p.H258H|DLG2_ENST00000398309.2_Silent_p.H258H|DLG2_ENST00000531015.1_Silent_p.H225H|DLG2_ENST00000398301.2_Silent_p.H297H|DLG2_ENST00000330014.6_Silent_p.H197H|DLG2_ENST00000418306.2_Silent_p.H207H				Q15700	DLG2_HUMAN			0	607	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)						B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Translation_Start_Site	SNP	ENST00000376106.3	37		CCDS44692.1																																																																																				0.353	DLG2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001364		20	147	0	0	0	0.062417	0	20	147				
GNPDA1	10007	broad.mit.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_ENST00000311337.6_Missense_Mutation_p.Y270H|GNPDA1_ENST00000458112.2_Missense_Mutation_p.Y236H|GNPDA1_ENST00000500692.2_Missense_Mutation_p.Y270H|GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000503794.1_Missense_Mutation_p.Y270H|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																																						ENST00000508177.1																			0				central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6						c.(808-810)Tac>Cac		glucosamine-6-phosphate deaminase 1							124.0	118.0	120.0					5																	141381656		2203	4300	6503	SO:0001583	missense	10007				generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr5:141381656A>G	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					GNPDA1_ENST00000311337.6_Missense_Mutation_p.Y270H|GNPDA1_ENST00000458112.2_Missense_Mutation_p.Y236H|GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.Y270H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.Y193H|GNPDA1_ENST00000503794.1_Missense_Mutation_p.Y270H	p.Y270H			P46926	GNPI1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1566	-		all_hematologic(541;0.118)	270					B7Z3X4|D3DQE7	Missense_Mutation	SNP	ENST00000508177.1	37	c.808T>C	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		12	33	0	0	0	0.105934	0	12	33				
LMF2	91289	broad.mit.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_ENST00000395701.3_5'Flank|NCAPH2_ENST00000299821.11_5'Flank|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.T303M|NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.T278M	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																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(832-834)aCg>aTg		lipase maturation factor 2		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					endoplasmic reticulum membrane|integral to membrane		g.chr22:50944111G>A	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					LMF2_ENST00000474879.2_Missense_Mutation_p.T303M|LMF2_ENST00000380796.3_Missense_Mutation_p.T303M	p.T278M			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	1001	-		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)	303					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.833C>T	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		16	26	0	0	0	0.038395	0	16	26				
PRAMEF11	440560	broad.mit.edu	37	1	12884887	12884887	+	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.chr1:12884887G>T	ENST00000535591.1	-	4	1419	c.1224C>A	c.(1222-1224)ccC>ccA	p.P408P	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	408					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P408P(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGATCCTCTTGGGGTGCCTTA	0.493																																						ENST00000535591.1																			1	Substitution - coding silent(1)	p.P408P(1)	lung(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(1222-1224)ccC>ccA		PRAME family member 11							80.0	62.0	68.0					1																	12884887		692	1590	2282	SO:0001819	synonymous_variant	440560							g.chr1:12884887G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1224C>A	1.37:g.12884887G>T							p.P408P	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			4	1419	-			408						Silent	SNP	ENST00000535591.1	37	c.1224C>A	CCDS53268.1																																																																																				0.493	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		14	296	1	0	6.31663e-08	0.132662	6.96118e-08	14	296				
FAT1	2195	broad.mit.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)	ENST00000441802.2																			0				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						c.(11041-11043)gtT>gtC		FAT atypical cadherin 1							68.0	69.0	69.0					4																	187524637		2033	4197	6230	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524637A>G	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		HNSCC(5;0.00058)					p.V3681V	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			19	11252	-			3681						Silent	SNP	ENST00000441802.2	37	c.11043T>C	CCDS47177.1																																																																																				0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	23	0	0	0	0.029380	0	7	23				
SLC25A53	401612	broad.mit.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																																						ENST00000357421.4																			1	Substitution - Missense(1)	p.R146H(1)	large_intestine(1)								c.(436-438)cGc>cAc		solute carrier family 25, member 53							100.0	105.0	103.0					X																	103349504		2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349504C>T		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						p.R146H	NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN			2	617	-			146					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.437G>A	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		67	100	0	0	0	0.139131	0	67	100				
PC	5091	broad.mit.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_ENST00000524491.1_Missense_Mutation_p.G278D|PC_ENST00000393960.1_Missense_Mutation_p.G318D|PC_ENST00000393955.2_Missense_Mutation_p.G318D|PC_ENST00000355677.3_Missense_Mutation_p.G318D	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																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(952-954)gGc>gAc		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						93.0	81.0	85.0					11																	66636386		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66636386C>T	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					PC_ENST00000393955.2_Missense_Mutation_p.G318D|PC_ENST00000393958.2_Missense_Mutation_p.G318D|PC_ENST00000355677.3_Missense_Mutation_p.G318D|PC_ENST00000524491.1_Missense_Mutation_p.G278D	p.G318D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	10	1234	-		Melanoma(852;0.0525)	318			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.953G>A	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	40	0	0	0	0.050027	0	32	40				
SF3B1	23451	broad.mit.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	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	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																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				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						c.(1621-1623)Tct>Cct		splicing factor 3b, subunit 1, 155kDa							100.0	99.0	99.0					2																	198268407		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198268407A>G	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						p.S541P	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		12	1712	-			541			Interaction with SF3B14.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1621T>C	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	0	0	0	0.099896	0	27	22				
FRG2DP	146481	broad.mit.edu	37	16	34712226	34712226	+	RNA	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.chr16:34712226T>A	ENST00000569028.2	-	0	1128																											AGCTCAAGCCTCATCTGACCC	0.532																																						ENST00000569028.2																			0																																																			0							g.chr16:34712226T>A																													16.37:g.34712226T>A														0	1128	-									RNA	SNP	ENST00000569028.2	37																																																																																						0.532	RP11-80F22.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431372.2			4	17	0	0	0	0.009096	0	4	17				
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	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.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M|PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388																																						ENST00000304338.3																			1	Substitution - Missense(1)	p.T89M(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(265-267)aCg>aTg		protein phosphatase 4, regulatory subunit 4							76.0	74.0	75.0					14																	94674875		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94674875C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.266C>T	14.37:g.94674875C>T	ENSP00000305924:p.Thr89Met					PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M|PPP4R4_ENST00000555690.1_3'UTR	p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			3	420	+			89					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.266C>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238065	0.79800	.	.	ENSG00000119698	ENST00000556884;ENST00000304338;ENST00000328839;ENST00000553661;ENST00000556470	T;T	0.33865	1.39;1.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.67953	2.075	0.44807	D	0.997817	D;D	0.89917	0.999;1.0	D;D	0.85130	0.967;0.997	T	0.61983	-0.6950	10	0.72032	D	0.01	-13.2975	16.6795	0.85288	0.0:1.0:0.0:0.0	.	89;89	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	M	8;89;89;8;8	ENSP00000305924:T89M;ENSP00000451556:T8M	ENSP00000305924:T89M	T	+	2	0	PPP4R4	93744628	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.231000	0.72307	2.548000	0.85928	0.491000	0.48974	ACG		0.388	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		3	35	0	0	0	0.009096	0	3	35				
HSD17B4	3295	broad.mit.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_ENST00000414835.2_Silent_p.K496K|HSD17B4_ENST00000510025.1_Silent_p.K612K|HSD17B4_ENST00000509514.1_Silent_p.K374K|HSD17B4_ENST00000504811.1_Silent_p.K661K|HSD17B4_ENST00000515320.1_Silent_p.K618K|HSD17B4_ENST00000513628.1_Silent_p.K499K|HSD17B4_ENST00000522415.1_3'UTR	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)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.(1981-1983)aaG>aaA		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						95.0	94.0	94.0					5																	118867014		2202	4300	6502	SO:0001819	synonymous_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118867014G>A		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						HSD17B4_ENST00000510025.1_Silent_p.K612K|HSD17B4_ENST00000414835.2_Silent_p.K496K|HSD17B4_ENST00000509514.1_Silent_p.K374K|HSD17B4_ENST00000513628.1_Silent_p.K499K|HSD17B4_ENST00000515320.1_Silent_p.K618K|HSD17B4_ENST00000256216.6_Silent_p.K636K|HSD17B4_ENST00000522415.1_3'UTR	p.K661K	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	23	2167	+		all_cancers(142;0.0206)|Prostate(80;0.0322)	636			SCP2.		B4DNV1|B4DVS5|E9PB82|F5HE57	Silent	SNP	ENST00000256216.6	37	c.1983G>A	CCDS4126.1																																																																																				0.403	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414		39	45	0	0	0	0.080422	0	39	45				
IDH1	3417	broad.mit.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)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	47	0	0	0	0.091800	0	23	47				
OR2T11	127077	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																																						ENST00000330803.2																			0				breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(835-837)acG>acA		olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)							100.0	97.0	98.0					1																	248789593		2054	4234	6288	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789593C>T	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							p.T279T	NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	898	-	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)		279					Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.837G>A	CCDS31122.1																																																																																				0.488	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		11	105	0	0	0	0.069234	0	11	105				
PIEZO2	63895	broad.mit.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_ENST00000580640.1_Missense_Mutation_p.S2701T|PIEZO2_ENST00000302079.6_Missense_Mutation_p.S2613T|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S468T|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																																						ENST00000302079.6																			0											c.(7837-7839)Tca>Aca		piezo-type mechanosensitive ion channel component 2							62.0	65.0	64.0					18																	10671757		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10671757A>T	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					PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2701T|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S633T|PIEZO2_ENST00000503781.3_Missense_Mutation_p.S2676T|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S468T	p.S2613T			Q9H5I5	PIEZ2_HUMAN			51	7836	-			2676					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.7837T>A		.	.	.	.	.	.	.	.	.	.	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		11	82	0	0	0	0.080935	0	11	82				
GTPBP4	23560	broad.mit.edu	37	10	1061799	1061799	+	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.chr10:1061799G>A	ENST00000360803.4	+	16	1797	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R525Q|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R456Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	572					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGTTGCTCTCGAACTCCACGT	0.507																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(1714-1716)cGa>cAa		GTP binding protein 4							181.0	161.0	168.0					10																	1061799		2203	4300	6503	SO:0001583	missense	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1061799G>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1715G>A	10.37:g.1061799G>A	ENSP00000354040:p.Arg572Gln					GTPBP4_ENST00000545048.1_Missense_Mutation_p.R525Q|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R456Q	p.R572Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	16	1797	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	572					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Missense_Mutation	SNP	ENST00000360803.4	37	c.1715G>A	CCDS31132.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343273	0.24339	.	.	ENSG00000107937	ENST00000360803;ENST00000538293;ENST00000545048	T;T;T	0.33438	1.42;1.41;1.42	5.67	2.8	0.32819	.	0.246457	0.39475	N	0.001341	T	0.34019	0.0883	M	0.82716	2.605	0.43321	D	0.995344	B	0.16603	0.018	B	0.15052	0.012	T	0.09840	-1.0656	10	0.32370	T	0.25	-0.8431	9.0768	0.36527	0.2816:0.0:0.7184:0.0	.	572	Q9BZE4	NOG1_HUMAN	Q	572;456;525	ENSP00000354040:R572Q;ENSP00000444277:R456Q;ENSP00000445473:R525Q	ENSP00000354040:R572Q	R	+	2	0	GTPBP4	1051799	1.000000	0.71417	0.967000	0.41034	0.025000	0.11179	3.996000	0.57009	0.327000	0.23409	-0.218000	0.12543	CGA		0.507	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		10	191	0	0	0	0.058154	0	10	191				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	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.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		5	72	0	0	0	0.014758	0	5	72				
FGD3	89846	broad.mit.edu	37	9	95795123	95795123	+	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.chr9:95795123C>T	ENST00000375482.3	+	16	2249	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	FGD3_ENST00000416701.2_Silent_p.L585L|FGD3_ENST00000538555.1_Silent_p.L188L|FGD3_ENST00000337352.6_Silent_p.L585L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637																																						ENST00000375482.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1753-1755)Ctg>Ttg		FYVE, RhoGEF and PH domain containing 3							88.0	101.0	97.0					9																	95795123		2062	4195	6257	SO:0001819	synonymous_variant	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95795123C>T	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1753C>T	9.37:g.95795123C>T						FGD3_ENST00000538555.1_Silent_p.L188L|FGD3_ENST00000337352.6_Silent_p.L585L|FGD3_ENST00000416701.2_Silent_p.L585L	p.L585L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN			16	2249	+			585					F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	ENST00000375482.3	37	c.1753C>T	CCDS43849.1																																																																																				0.637	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		6	119	0	0	0	0.029380	0	6	119				
PPP1R16B	26051	broad.mit.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																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(976-978)Ctg>Ttg		protein phosphatase 1, regulatory subunit 16B							65.0	61.0	62.0					20																	37536526		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37536526C>T	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						PPP1R16B_ENST00000373331.2_Silent_p.L284L	p.L326L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			9	1165	+		Myeloproliferative disorder(115;0.00878)	326					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.976C>T	CCDS13309.1																																																																																				0.592	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		17	41	0	0	0	0.038395	0	17	41				
MAP3K13	9175	broad.mit.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	MAP3K13_ENST00000446828.1_Silent_p.K74K|MAP3K13_ENST00000443863.1_Silent_p.K137K|snoU13_ENST00000459417.1_RNA|MAP3K13_ENST00000535426.1_Silent_p.K137K|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																																						ENST00000265026.3																			0				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						c.(841-843)aaA>aaG		mitogen-activated protein kinase kinase kinase 13							93.0	90.0	91.0					3																	185161416		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185161416A>G	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						MAP3K13_ENST00000446828.1_Silent_p.K74K|MAP3K13_ENST00000443863.1_Silent_p.K137K|MAP3K13_ENST00000424227.1_Silent_p.K281K|MAP3K13_ENST00000535426.1_Silent_p.K137K	p.K281K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	1177	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		281			Protein kinase.			Silent	SNP	ENST00000265026.3	37	c.843A>G	CCDS3270.1																																																																																				0.378	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		38	56	0	0	0	0.098360	0	38	56				
XK	7504	broad.mit.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																																						ENST00000378616.3																			0				breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(715-717)gTt>gAt		X-linked Kx blood group (McLeod syndrome)							140.0	108.0	119.0					X																	37587096		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587096T>A	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					TM4SF2_ENST00000465127.1_Intron	p.V239D	NM_021083.2	NP_066569.1	P51811	XK_HUMAN			3	919	+		all_lung(315;0.175)	239					Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.716T>A	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	27	0	0	0	0.093190	0	13	27				
OR9A2	135924	broad.mit.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																																						ENST00000350513.2																			0				central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25						c.(553-555)tgC>tgT		olfactory receptor, family 9, subfamily A, member 2		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				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142723665G>A		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							p.C185C	NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN			1	617	-	Melanoma(164;0.059)		185					B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.555C>T	CCDS34767.1																																																																																				0.393	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			48	185	0	0	0	0.139131	0	48	185				
HTR2B	3357	broad.mit.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_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_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)	ENST00000258400.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11						c.(769-771)Caa>Taa		5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)						151.0	136.0	141.0					2																	231973908		2203	4300	6503	SO:0001587	stop_gained	3357				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity	g.chr2:231973908G>A		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*					PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron	p.Q257*	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	4	1281	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)	257					B2R9D5|Q53TI1|Q62221|Q6P523	Nonsense_Mutation	SNP	ENST00000258400.3	37	c.769C>T	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		40	61	0	0	0	0.098360	0	40	61				
DNM1P47	100216544	broad.mit.edu	37	15	102304783	102304783	+	RNA	SNP	G	G	A	rs560197824	byFrequency	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.chr15:102304783G>A	ENST00000561463.1	+	0	12829									DNM1 pseudogene 47																		GACGAGACTCGCGTGGGAAGA	0.592													.|||	13	0.00259585	0.0098	0.0	5008	,	,		23139	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			0							g.chr15:102304783G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304783G>A														0	12829	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	4	0	0	0	0.058154	0	7	4				
NFRKB	4798	broad.mit.edu	37	11	129739825	129739825	+	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.chr11:129739825G>A	ENST00000446488.3	-	23	3198	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	NFRKB_ENST00000524746.1_Missense_Mutation_p.P1032L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P1057L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P1032L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1032					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGTGGATGAAGGGGCACTGGC	0.542																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3094-3096)cCt>cTt		nuclear factor related to kappaB binding protein							161.0	127.0	139.0					11																	129739825		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129739825G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3095C>T	11.37:g.129739825G>A	ENSP00000400476:p.Pro1032Leu					NFRKB_ENST00000304521.5_Missense_Mutation_p.P1032L|NFRKB_ENST00000524746.1_Missense_Mutation_p.P1032L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P1057L	p.P1032L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	23	3198	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1032					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.3095C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915599	0.33815	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.03	5.03	0.67393	.	0.182257	0.48767	D	0.000180	T	0.38904	0.1058	N	0.19112	0.55	0.50313	D	0.999863	P;B;B	0.43231	0.801;0.001;0.001	B;B;B	0.40782	0.34;0.003;0.002	T	0.30851	-0.9964	9	0.41790	T	0.15	-11.6034	12.775	0.57441	0.0795:0.0:0.9205:0.0	.	1032;1031;1057	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	L	1032;1032;1057;1032	.	ENSP00000303800:P1032L	P	-	2	0	NFRKB	129245035	0.987000	0.35691	0.950000	0.38849	0.996000	0.88848	4.618000	0.61211	2.327000	0.79052	0.655000	0.94253	CCT		0.542	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		6	69	0	0	0	0.021553	0	6	69				
RAB8A	4218	broad.mit.edu	37	19	16238875	16238875	+	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.chr19:16238875G>A	ENST00000300935.3	+	6	727	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	RAB8A_ENST00000586682.1_Missense_Mutation_p.A152T|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	152					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GGAGACCAGCGCGAAGGCCAA	0.617																																						ENST00000300935.3																			0				endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						c.(454-456)Gcg>Acg		RAB8A, member RAS oncogene family							84.0	67.0	73.0					19																	16238875		2203	4300	6503	SO:0001583	missense	4218				cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding	g.chr19:16238875G>A		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.454G>A	19.37:g.16238875G>A	ENSP00000300935:p.Ala152Thr					CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.A152T	p.A152T	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN			6	727	+			152					B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	ENST00000300935.3	37	c.454G>A	CCDS12339.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323628	0.95708	.	.	ENSG00000167461	ENST00000300935	D	0.88741	-2.42	4.8	4.8	0.61643	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96340	0.8806	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97732	1.0203	10	0.87932	D	0	.	16.795	0.85599	0.0:0.0:1.0:0.0	.	152;152	B4DEK7;P61006	.;RAB8A_HUMAN	T	152	ENSP00000300935:A152T	ENSP00000300935:A152T	A	+	1	0	RAB8A	16099875	1.000000	0.71417	0.317000	0.25265	0.979000	0.70002	9.671000	0.98627	2.378000	0.81104	0.491000	0.48974	GCG		0.617	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460186.1	NM_005370		3	30	0	0	0	0.115264	0	3	30				
USP11	8237	broad.mit.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																																						ENST00000377107.2																			0				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						c.(1126-1128)Gtg>Atg		ubiquitin specific peptidase 11							121.0	99.0	107.0					X																	47101045		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47101045G>A	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					USP11_ENST00000218348.3_Missense_Mutation_p.V419M	p.V376M			P51784	UBP11_HUMAN			9	1480	+			419					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1126G>A	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	25	0	0	0	0.054565	0	36	25				
ZNF571	51276	broad.mit.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	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.C597Y|ZNF571_ENST00000593133.1_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA			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																																						ENST00000328550.2																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1789-1791)tGt>tAt		zinc finger protein 571							62.0	58.0	59.0					19																	38055540		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38055540C>T	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					ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C597Y|ZNF571_ENST00000451802.2_Missense_Mutation_p.C597Y|ZNF571_ENST00000593133.1_Missense_Mutation_p.C597Y	p.C597Y			Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1889	-			597					Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.1790G>A	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		11	27	0	0	0	0.080935	0	11	27				
NUMA1	4926	broad.mit.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_ENST00000358965.6_Missense_Mutation_p.R1796H|NUMA1_ENST00000351960.6_Missense_Mutation_p.R674H	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																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				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						c.(5428-5430)cGc>cAc		nuclear mitotic apparatus protein 1							35.0	36.0	36.0					11																	71718269		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71718269C>T	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					NUMA1_ENST00000358965.6_Missense_Mutation_p.R1796H|NUMA1_ENST00000351960.6_Missense_Mutation_p.R674H	p.R1810H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			21	5760	-			1810						Missense_Mutation	SNP	ENST00000393695.3	37	c.5429G>A	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			3	22	0	0	0	0.014758	0	3	22				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	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.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			4	7						4	7	---	---	---	---
BSNDP4	106481726	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG	rs367832782		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.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584																																						ENST00000605139.1																			0																																																			0							g.chr7:57698565_57698566insTGGG																													7.37:g.57698566_57698569dupTGGG														0	416	-									RNA	INS	ENST00000605139.1	37																																																																																						0.584	RP11-368M16.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468775.1			3	3						3	3	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			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.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		8	87						8	87	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93999920	93999920	+	Frame_Shift_Del	DEL	G	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.chr10:93999920delG	ENST00000265997.4	-	2	360	c.188delC	c.(187-189)ccgfs	p.P63fs	CPEB3_ENST00000412050.4_Frame_Shift_Del_p.P63fs	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	Pro-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTGGGGGCCGGGGGGGCAGC	0.692																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(187-189)cgfs		cytoplasmic polyadenylation element binding protein 3			,	30,23,3843		2,0,26,1,21,1898	5.0	6.0	6.0		,	2.0	1.0	10		6	36,65,7467		4,0,28,6,53,3693	no	codingComplex,codingComplex	CPEB3	NM_014912.4,NM_001178137.1	,	6,0,54,7,74,5591	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3346,1.3604,1.3433	,	,	93999920	66,88,11310	2112	4127	6239	SO:0001589	frameshift_variant	22849						nucleotide binding|RNA binding	g.chr10:93999920delG	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.188delC	10.37:g.93999920delG	ENSP00000265997:p.Pro63fs					CPEB3_ENST00000265997.4_Frame_Shift_Del_p.P63fs	p.P63fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			2	276	-		Colorectal(252;0.0869)	63			Pro-rich.		Q5T389|Q9NQJ7|Q9Y2E9	Frame_Shift_Del	DEL	ENST00000265997.4	37	c.188delC	CCDS31246.1																																																																																				0.692	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		2	4						2	4	---	---	---	---
SMARCA4	6597	broad.mit.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_ENST00000344626.4_In_Frame_Del_p.K1227del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000358026.2_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																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(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						c.(3676-3681)cag>c		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4																																				SO:0001651	inframe_deletion	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144096_11144098delAGA	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					SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK1226del	p.QK1226del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3961_3963	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1226			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	In_Frame_Del	DEL	ENST00000429416.3	37	c.3677_3679delAGA	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	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_ENST00000595948.1_In_Frame_Del_p.K227del|IL4I1_ENST00000341114.3_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																																						ENST00000595948.1																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(679-681)del		interleukin 4 induced 1																																				SO:0001651	inframe_deletion	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50394683_50394685delCTT	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					IL4I1_ENST00000391826.2_In_Frame_Del_p.K205del|IL4I1_ENST00000341114.3_In_Frame_Del_p.K227del	p.K227del	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	8	1299_1301	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	205					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	In_Frame_Del	DEL	ENST00000391826.2	37	c.679_681delAAG	CCDS12787.1																																																																																				0.571	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			22	105						22	105	---	---	---	---
ATRX	546	broad.mit.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																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(709-711)agcfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76940037_76940038insT	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					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S199fs	p.S237fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	924_925	-			237			ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.710_711insA	CCDS14434.1																																																																																				0.381	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		121	137						121	137	---	---	---	---
