#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
ANKRD30A	91074	broad.mit.edu	37	10	37442521	37442521	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	ENST00000602533.1	+	13	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.Q521K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	577					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(1561-1563)Cag>Aag		ankyrin repeat domain 30A							120.0	121.0	121.0					10																	37442521		1797	4064	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37442521C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1561C>A	10.37:g.37442521C>A	ENSP00000473551:p.Gln521Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K	p.Q521K			Q9BXX3	AN30A_HUMAN			13	1660	+			577					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1561C>A		.	.	.	.	.	.	.	.	.	.	.	1.026	-0.683274	0.03353	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05996	3.36;3.36	1.32	1.32	0.21799	.	.	.	.	.	T	0.09642	0.0237	L	0.34521	1.04	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.28554	-1.0040	9	0.66056	D	0.02	.	6.0892	0.19985	0.0:1.0:0.0:0.0	.	577	Q9BXX3	AN30A_HUMAN	K	521	ENSP00000354432:Q521K;ENSP00000363792:Q521K	ENSP00000354432:Q521K	Q	+	1	0	ANKRD30A	37482527	0.019000	0.18553	0.003000	0.11579	0.013000	0.08279	-0.257000	0.08745	1.040000	0.40099	0.384000	0.25694	CAG		0.274	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		15	95	1	0	1.33834e-09	0.557998	1.38884e-09	15	95				
LAMA3	3909	broad.mit.edu	37	18	21364088	21364088	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	ENST00000313654.9	+	12	1811	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	524	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGATACCTGCCGCTCTGGTTT	0.498																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1570-1572)Cgc>Tgc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						153.0	160.0	158.0					18																	21364088		1967	4132	6099	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21364088C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1570C>T	18.37:g.21364088C>T	ENSP00000324532:p.Arg524Cys					LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			12	1811	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		524			Domain V.|Laminin EGF-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1570C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228556	0.58777	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.34859	1.34;1.34	5.64	3.63	0.41609	EGF-like, laminin (4);	.	.	.	.	T	0.57036	0.2026	M	0.85373	2.75	0.41713	D	0.989464	B;D;D	0.89917	0.175;1.0;1.0	B;D;P	0.65874	0.011;0.939;0.908	T	0.60742	-0.7203	9	0.59425	D	0.04	.	7.3231	0.26539	0.3158:0.5993:0.0:0.0849	.	526;524;524	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	C	524;524;522;526	ENSP00000324532:R524C;ENSP00000382432:R524C	ENSP00000324532:R524C	R	+	1	0	LAMA3	19618086	0.084000	0.21492	0.910000	0.35882	0.930000	0.56654	0.974000	0.29436	1.355000	0.45865	0.650000	0.86243	CGC		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		26	153	0	0	0	0.654019	0	26	153				
GPR110	266977	broad.mit.edu	37	6	46977421	46977421	+	Missense_Mutation	SNP	C	C	T	rs188943175		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr6:46977421C>T	ENST00000371253.2	-	11	1965	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	584					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATTTTACAACGGGGAAGATT	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		22813	0.0		0.001	False		,,,				2504	0.0					ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1750-1752)Gtt>Att		G protein-coupled receptor 110							116.0	108.0	111.0					6																	46977421		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977421C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1750G>A	6.37:g.46977421C>T	ENSP00000360299:p.Val584Ile					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	p.V584I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	1965	-			584					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1750G>A	CCDS34471.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.385	-0.582398	0.03827	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.45276	0.9;0.9	5.76	0.767	0.18482	.	0.637145	0.14501	N	0.315730	T	0.07999	0.0200	L	0.27975	0.815	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.35400	-0.9790	10	0.21014	T	0.42	-2.7793	2.8114	0.05443	0.1134:0.5082:0.1103:0.2681	.	584	Q5T601	GP110_HUMAN	I	584;584;387	ENSP00000360299:V584I;ENSP00000283297:V387I	ENSP00000283297:V387I	V	-	1	0	GPR110	47085380	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.091000	0.11146	-0.151000	0.11176	-0.378000	0.06908	GTT		0.428	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		7	73	0	0	0	0.335167	0	7	73				
DUXAP8	503637	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	T	C	rs8137415		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:16151010T>C	ENST00000447898.1	-	0	1104																											AGTTGTTCTCTGGAATCAATC	0.393																																						ENST00000447898.1																			0																																																			0							g.chr22:16151010T>C																													22.37:g.16151010T>C														0	1104	-									RNA	SNP	ENST00000447898.1	37																																																																																						0.393	AP000525.9-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000276780.1			4	12	0	0	0	0.150653	0	4	12				
ENPP2	5168	broad.mit.edu	37	8	120628508	120628508	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	ENST00000075322.6	-	8	832	c.774A>T	c.(772-774)caA>caT	p.Q258H	ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H|ENPP2_ENST00000427067.2_Missense_Mutation_p.Q254H|ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	258					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(760-762)caA>caT		ectonucleotide pyrophosphatase/phosphodiesterase 2							157.0	137.0	144.0					8																	120628508		2203	4300	6503	SO:0001583	missense	0				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120628508T>A	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.774A>T	8.37:g.120628508T>A	ENSP00000075322:p.Gln258His					ENPP2_ENST00000075322.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H	p.Q254H			Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	942	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		258			Substrate binding (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.762A>T	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902938	0.52227	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.55	-1.19	0.09585	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	T	0.80732	0.4679	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.77557	0.99;0.99;0.983	T	0.79813	-0.1645	10	0.87932	D	0	.	12.4371	0.55604	0.0:0.5728:0.0:0.4272	.	258;258;258	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	H	258;254;258;258;240	ENSP00000259486:Q258H;ENSP00000403315:Q254H;ENSP00000428291:Q258H;ENSP00000075322:Q258H;ENSP00000428304:Q240H	ENSP00000075322:Q258H	Q	-	3	2	ENPP2	120697689	0.928000	0.31464	0.996000	0.52242	0.201000	0.24016	0.022000	0.13511	-0.206000	0.10203	-0.371000	0.07208	CAA		0.378	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			10	62	0	0	0	0.361761	0	10	62				
OR5A1	219982	broad.mit.edu	37	11	59211138	59211138	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	ENST00000302030.2	+	1	522	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	166						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(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(496-498)aTa>aCa		olfactory receptor, family 5, subfamily A, member 1							265.0	257.0	259.0					11																	59211138		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211138T>C	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.497T>C	11.37:g.59211138T>C	ENSP00000303096:p.Ile166Thr						p.I166T	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	522	+			166					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.497T>C	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	2.622	-0.288328	0.05605	.	.	ENSG00000172320	ENST00000302030	T	0.00018	9.08	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.00144	0.0004	N	0.16790	0.44	0.09310	N	1	P	0.39809	0.689	P	0.52031	0.688	T	0.52260	-0.8599	10	0.02654	T	1	-22.7241	10.4431	0.44477	0.0:0.0758:0.0:0.9242	.	166	Q8NGJ0	OR5A1_HUMAN	T	166	ENSP00000303096:I166T	ENSP00000303096:I166T	I	+	2	0	OR5A1	58967714	0.000000	0.05858	0.989000	0.46669	0.195000	0.23768	0.218000	0.17622	2.288000	0.76882	0.528000	0.53228	ATA		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		44	294	0	0	0	0.870114	0	44	294				
SLC30A8	169026	broad.mit.edu	37	8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	ENST00000456015.2	+	4	553	c.553G>A	c.(553-555)Gca>Aca	p.A185T	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000427715.2_Missense_Mutation_p.A136T	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527																																					Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(406-408)Gca>Aca		solute carrier family 30 (zinc transporter), member 8							191.0	160.0	171.0					8																	118170064		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118170064G>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.553G>A	8.37:g.118170064G>A	ENSP00000415011:p.Ala185Thr					SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T	p.A136T	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		7	840	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		185					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.406G>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235757	0.79800	.	.	ENSG00000164756	ENST00000521243;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.77	5.77	0.91146	.	0.104565	0.64402	D	0.000004	T	0.78065	0.4225	M	0.62154	1.92	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.79009	-0.1978	10	0.87932	D	0	-4.4463	18.9751	0.92733	0.0:0.0:1.0:0.0	.	185	Q8IWU4	ZNT8_HUMAN	T	136;136;136;185	ENSP00000428545:A136T;ENSP00000407505:A136T;ENSP00000431069:A136T;ENSP00000415011:A185T	ENSP00000407505:A136T	A	+	1	0	SLC30A8	118239245	1.000000	0.71417	0.913000	0.36048	0.111000	0.19643	9.869000	0.99810	2.722000	0.93159	0.655000	0.94253	GCA		0.527	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		17	89	0	0	0	0.539581	0	17	89				
SLC43A2	124935	broad.mit.edu	37	17	1516558	1516558	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	ENST00000301335.5	-	5	520	c.432C>T	c.(430-432)tcC>tcT	p.S144S	snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000382147.4_Silent_p.S144S|SLC43A2_ENST00000571650.1_Silent_p.S144S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	144					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(430-432)tcC>tcT		solute carrier family 43 (amino acid system L transporter), member 2							87.0	74.0	78.0					17																	1516558		2203	4300	6503	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1516558G>A	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.432C>T	17.37:g.1516558G>A						SLC43A2_ENST00000382147.4_Silent_p.S144S|SLC43A2_ENST00000301335.4_Silent_p.S144S	p.S144S			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	5	738	-			144					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.432C>T	CCDS11006.1																																																																																				0.552	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		4	25	0	0	0	0.217242	0	4	25				
CTSZ	1522	broad.mit.edu	37	20	57576621	57576621	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	ENST00000217131.5	-	3	504	c.386C>T	c.(385-387)gCt>gTt	p.A129V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	129			A -> R (requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9738465}.		angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602																																						ENST00000217131.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10						c.(385-387)gCt>gTt		cathepsin Z							221.0	158.0	179.0					20																	57576621		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57576621G>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.386C>T	20.37:g.57576621G>A	ENSP00000217131:p.Ala129Val						p.A129V	NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		3	504	-	all_lung(29;0.00711)		129		A -> R (requires 2 nucleotide substitutions).			B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.386C>T	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207818	0.39003	.	.	ENSG00000101160	ENST00000217131	T	0.42513	0.97	5.26	4.32	0.51571	Peptidase C1A, papain C-terminal (2);	0.052962	0.85682	D	0.000000	T	0.38612	0.1047	L	0.53671	1.685	0.80722	D	1	P;B	0.46656	0.882;0.428	B;B	0.41619	0.361;0.141	T	0.30446	-0.9978	10	0.56958	D	0.05	.	10.3644	0.44015	0.0734:0.1349:0.7917:0.0	.	129;129	Q5U000;Q9UBR2	.;CATZ_HUMAN	V	129	ENSP00000217131:A129V	ENSP00000217131:A129V	A	-	2	0	CTSZ	57010016	1.000000	0.71417	0.013000	0.15412	0.053000	0.15095	7.847000	0.86896	1.231000	0.43661	0.555000	0.69702	GCT		0.602	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		11	57	0	0	0	0.387290	0	11	57				
CHRM1	1128	broad.mit.edu	37	11	62677198	62677198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	ENST00000306960.3	-	2	1916	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	459					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	TATCAGCATTGGCGGGAGGGA	0.682																																						ENST00000306960.3																			0				large_intestine(5)|lung(3)|stomach(1)	9						c.(1375-1377)Caa>Taa		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						70.0	78.0	75.0					11																	62677198		2201	4298	6499	SO:0001587	stop_gained	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677198G>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1375C>T	11.37:g.62677198G>A	ENSP00000306490:p.Gln459*					AP000438.2_ENST00000543624.1_RNA	p.Q459*	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN			2	1916	-			459					Q96RH1	Nonsense_Mutation	SNP	ENST00000306960.3	37	c.1375C>T	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	39	7.636059	0.98403	.	.	ENSG00000168539	ENST00000306960	.	.	.	4.53	4.53	0.55603	.	0.456851	0.16062	N	0.231450	.	.	.	.	.	.	0.27385	N	0.95531	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.9698	9.9286	0.41507	0.0:0.0:0.7971:0.2029	.	.	.	.	X	459	.	ENSP00000306490:Q459X	Q	-	1	0	CHRM1	62433774	0.976000	0.34144	0.994000	0.49952	0.964000	0.63967	1.758000	0.38410	2.323000	0.78572	0.561000	0.74099	CAA		0.682	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		19	95	0	0	0	0.557998	0	19	95				
FUBP1	8880	broad.mit.edu	37	1	78435640	78435640	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	ENST00000370768.2	-	2	261	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370767.1_Nonsense_Mutation_p.Y60*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	60					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTGTCCCCCATAACCATAGT	0.303			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(178-180)taT>taG		far upstream element (FUSE) binding protein 1							93.0	87.0	89.0					1																	78435640		2203	4298	6501	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78435640A>C	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.180T>G	1.37:g.78435640A>C	ENSP00000359804:p.Tyr60*					FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Y60*	p.Y60*			Q96AE4	FUBP1_HUMAN			2	267	-			60					Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.180T>G	CCDS683.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.755588	0.89843	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.77	4.64	0.57946	.	0.110652	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2535	10.5316	0.44979	0.8652:0.0:0.1348:0.0	.	.	.	.	X	60	.	ENSP00000294623:Y60X	Y	-	3	2	FUBP1	78208228	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.315000	0.51951	1.010000	0.39314	-0.351000	0.07748	TAT		0.303	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		13	29	0	0	0	0.457914	0	13	29				
PCSK2	5126	broad.mit.edu	37	20	17339014	17339014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	ENST00000262545.2	+	3	640	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	109					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCGAAAAAAGCGAGGTTACAG	0.398																																						ENST00000262545.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(325-327)Cga>Tga		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						184.0	152.0	163.0					20																	17339014		2203	4300	6503	SO:0001587	stop_gained	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17339014C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.325C>T	20.37:g.17339014C>T	ENSP00000262545:p.Arg109*					PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*	p.R109*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN			3	640	+			109					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Nonsense_Mutation	SNP	ENST00000262545.2	37	c.325C>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	.	37	6.299487	0.97453	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	.	.	.	6.17	1.61	0.23674	.	0.062081	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6861	15.4355	0.75143	0.7018:0.2982:0.0:0.0	.	.	.	.	X	90;109;74	.	ENSP00000262545:R109X	R	+	1	2	PCSK2	17287014	0.993000	0.37304	0.997000	0.53966	0.475000	0.33008	0.341000	0.19909	0.035000	0.15519	-0.953000	0.02652	CGA		0.398	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		7	54	0	0	0	0.248553	0	7	54				
AKAP3	10566	broad.mit.edu	37	12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	ENST00000545990.2	-	5	1071	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	183					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478																																						ENST00000545990.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(547-549)Gtc>Atc		A kinase (PRKA) anchor protein 3		C	ILE/VAL	0,4406		0,0,2203	140.0	130.0	133.0		547	4.8	0.1	12	dbSNP_134	133	2,8598	2.2+/-6.3	0,2,4298	no	missense	AKAP3	NM_006422.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	183/854	4737521	2,13004	2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737521C>T	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.547G>A	12.37:g.4737521C>T	ENSP00000440994:p.Val183Ile					AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I	p.V183I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	1071	-			183					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.547G>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.940079	0.34283	0.0	2.33E-4	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11930	2.73;2.73	4.75	4.75	0.60458	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.52532	D	0.000070	T	0.17704	0.0425	M	0.78049	2.395	0.09310	N	0.999999	P	0.52577	0.954	B	0.40741	0.339	T	0.36114	-0.9761	10	0.87932	D	0	.	9.1003	0.36664	0.0:0.9018:0.0:0.0982	.	183	O75969	AKAP3_HUMAN	I	183	ENSP00000228850:V183I;ENSP00000440994:V183I	ENSP00000228850:V183I	V	-	1	0	AKAP3	4607782	0.615000	0.27026	0.095000	0.20976	0.224000	0.24922	1.295000	0.33377	2.615000	0.88500	0.650000	0.86243	GTC		0.478	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		25	118	0	0	0	0.654019	0	25	118				
ANAPC5	51433	broad.mit.edu	37	12	121769171	121769171	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:121769171G>A	ENST00000261819.3	-	8	1132	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000536366.1_Intron|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000535482.1_De_novo_Start_OutOfFrame|ANAPC5_ENST00000544314.1_Intron	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	337					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGACACACGTGATCGTTGG	0.488																																						ENST00000535482.1																			0				breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31								anaphase promoting complex subunit 5							117.0	92.0	100.0					12																	121769171		2203	4300	6503	SO:0001819	synonymous_variant	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121769171G>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1011C>T	12.37:g.121769171G>A						ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000544314.1_Intron|ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000261819.3_Silent_p.H337H|ANAPC5_ENST00000536366.1_Intron				Q9UJX4	APC5_HUMAN			0	23	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)							E9PFB2|Q8N4H7|Q9BQD4	Translation_Start_Site	SNP	ENST00000261819.3	37		CCDS9220.1																																																																																				0.488	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			9	27	0	0	0	0.335167	0	9	27				
FUBP1	8880	broad.mit.edu	37	1	78435643	78435643	+	Silent	SNP	A	A	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	ENST00000370768.2	-	2	258	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370767.1_Silent_p.G59G	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	59					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCCCATAACCATAGTCAT	0.308			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(175-177)ggT>ggG		far upstream element (FUSE) binding protein 1							91.0	85.0	87.0					1																	78435643		2203	4299	6502	SO:0001819	synonymous_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78435643A>C	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.177T>G	1.37:g.78435643A>C						FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370768.2_Silent_p.G59G	p.G59G			Q96AE4	FUBP1_HUMAN			2	264	-			59					Q12828	Silent	SNP	ENST00000370768.2	37	c.177T>G	CCDS683.1																																																																																				0.308	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		13	31	0	0	0	0.479597	0	13	31				
PTPRH	5794	broad.mit.edu	37	19	55693461	55693461	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	ENST00000376350.3	-	19	3143	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*|SYT5_ENST00000537500.1_5'Flank|SYT5_ENST00000590851.1_5'Flank|SYT5_ENST00000354308.3_5'Flank	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1041	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q1041E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCGGACTGCAGCTGCCGG	0.607																																						ENST00000376350.3																			1	Substitution - Missense(1)	p.Q1041E(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67						c.(3121-3123)Cag>Tag		protein tyrosine phosphatase, receptor type, H							91.0	90.0	91.0					19																	55693461		2203	4300	6503	SO:0001587	stop_gained	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55693461G>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3121C>T	19.37:g.55693461G>A	ENSP00000365528:p.Gln1041*					PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*	p.Q1041*	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	19	3143	-		Renal(1328;0.245)	1041			Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Nonsense_Mutation	SNP	ENST00000376350.3	37	c.3121C>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981812	0.93044	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	.	.	.	4.86	-2.31	0.06765	.	0.674756	0.12226	N	0.487873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	19.8364	0.96659	0.0:0.3833:0.6167:0.0	.	.	.	.	X	1041;863	.	ENSP00000263434:Q863X	Q	-	1	0	PTPRH	60385273	0.127000	0.22367	0.240000	0.24138	0.269000	0.26545	0.074000	0.14662	-0.058000	0.13177	-0.961000	0.02630	CAG		0.607	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			7	94	0	0	0	0.248553	0	7	94				
DMBX1	127343	broad.mit.edu	37	1	46976279	46976279	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:46976279C>T	ENST00000360032.3	+	2	300	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	DMBX1_ENST00000371956.4_Missense_Mutation_p.R101C	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGTGATGCGTGAGAGGCT	0.602																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(301-303)Cgt>Tgt		diencephalon/mesencephalon homeobox 1							80.0	68.0	72.0					1																	46976279		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46976279C>T	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.286C>T	1.37:g.46976279C>T	ENSP00000353132:p.Arg96Cys					DMBX1_ENST00000360032.3_Missense_Mutation_p.R96C	p.R101C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			2	316	+	Acute lymphoblastic leukemia(166;0.155)		101			Interacts with OXT2 and is required for repressor activity (By similarity).			Missense_Mutation	SNP	ENST00000360032.3	37	c.301C>T	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958466	0.74016	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.97480	-4.4;-4.4	5.13	4.16	0.48862	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.047287	0.85682	D	0.000000	D	0.99077	0.9683	H	0.99487	4.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	D	0.98190	1.0462	10	0.87932	D	0	.	10.7596	0.46258	0.3488:0.6512:0.0:0.0	.	101;96	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	C	101;96	ENSP00000361024:R101C;ENSP00000353132:R96C	ENSP00000353132:R96C	R	+	1	0	DMBX1	46748866	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.745000	0.26259	2.403000	0.81681	0.491000	0.48974	CGT		0.602	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			3	29	0	0	0	0.184627	0	3	29				
RYR1	6261	broad.mit.edu	37	19	39055678	39055678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	ENST00000359596.3	+	91	12704	c.12704G>A	c.(12703-12705)aGt>aAt	p.S4235N	RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N|RYR1_ENST00000355481.4_Missense_Mutation_p.S4230N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4235					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTCTTCGTGAGTTTCTGCGAG	0.657																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12688-12690)aGt>aAt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						29.0	23.0	26.0					19																	39055678		2198	4295	6493	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39055678G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12704G>A	19.37:g.39055678G>A	ENSP00000352608:p.Ser4235Asn					RYR1_ENST00000359596.3_Missense_Mutation_p.S4235N|RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N	p.S4230N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		90	12820	+	all_cancers(60;7.91e-06)		4235					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.12689G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180148	0.38511	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.96265	-3.96;-3.96;-3.96	3.07	3.07	0.35406	.	0.067594	0.56097	U	0.000030	T	0.81059	0.4744	N	0.00811	-1.165	0.34478	D	0.703513	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.78257	-0.2274	10	0.02654	T	1	.	4.4677	0.11698	0.3253:0.0:0.6747:0.0	.	4230;4230;4235	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	N	4235;4230;4230	ENSP00000352608:S4235N;ENSP00000347667:S4230N;ENSP00000354254:S4230N	ENSP00000347667:S4230N	S	+	2	0	RYR1	43747518	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.044000	0.71012	1.744000	0.51775	0.505000	0.49811	AGT		0.657	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			4	1	0	0	0	0.150653	0	4	1				
ARMC3	219681	broad.mit.edu	37	10	23248333	23248333	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	ENST00000298032.5	+	6	451	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	123						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAAGAAGTAGTTATCCA	0.363																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(367-369)Gta>Cta		armadillo repeat containing 3							61.0	59.0	60.0					10																	23248333		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23248333G>C	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.367G>C	10.37:g.23248333G>C	ENSP00000298032:p.Val123Leu					ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR	p.V123L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			6	451	+			123					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.367G>C	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841979	0.32513	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000447081	T;T;T;T	0.50277	0.84;0.84;1.47;0.75	5.24	1.31	0.21738	Armadillo-like helical (1);Armadillo-type fold (1);	0.626214	0.16901	N	0.194886	T	0.37758	0.1015	L	0.47716	1.5	0.80722	D	1	B;B;P	0.49090	0.313;0.047;0.919	B;B;B	0.42851	0.14;0.031;0.4	T	0.11665	-1.0578	10	0.21540	T	0.41	-21.0985	9.2664	0.37643	0.2907:0.0:0.7093:0.0	.	123;35;123	Q5W041-4;C9JC46;Q5W041	.;.;ARMC3_HUMAN	L	123;123;123;123;35	ENSP00000298032:V123L;ENSP00000386943:V123L;ENSP00000387288:V123L;ENSP00000396629:V35L	ENSP00000298032:V123L	V	+	1	0	ARMC3	23288339	1.000000	0.71417	0.918000	0.36340	0.966000	0.64601	1.991000	0.40727	0.314000	0.23086	-0.140000	0.14226	GTA		0.363	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		4	43	0	0	0	0.150653	0	4	43				
EDEM3	80267	broad.mit.edu	37	1	184723669	184723669	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	ENST00000318130.8	-	1	378	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_ENST00000367512.3_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	38					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCGCCGTCCACACGGAG	0.692																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(112-114)Acg>Gcg		ER degradation enhancer, mannosidase alpha-like 3							33.0	32.0	32.0					1																	184723669		2200	4298	6498	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184723669T>C	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.112A>G	1.37:g.184723669T>C	ENSP00000318147:p.Thr38Ala					EDEM3_ENST00000367512.3_5'UTR	p.T38A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			1	378	-			38					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.112A>G	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	T	15.38	2.816492	0.50527	.	.	ENSG00000116406	ENST00000318130	T	0.71461	-0.57	4.62	0.793	0.18632	.	0.525582	0.18647	N	0.135102	T	0.36303	0.0962	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29549	-1.0008	10	0.05620	T	0.96	.	0.8057	0.01084	0.2022:0.1154:0.2098:0.4727	.	38	Q9BZQ6	EDEM3_HUMAN	A	38	ENSP00000318147:T38A	ENSP00000318147:T38A	T	-	1	0	EDEM3	182990292	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	0.100000	0.15231	0.252000	0.21531	0.496000	0.49642	ACG		0.692	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		4	42	0	0	0	0.184627	0	4	42				
COL4A1	1282	broad.mit.edu	37	13	110813712	110813712	+	Silent	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	ENST00000375820.4	-	49	4588	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1489	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTGCCGGCCGTGCCTAGAC	0.438																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(4465-4467)acG>acA		collagen, type IV, alpha 1							67.0	53.0	58.0					13																	110813712		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110813712C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4467G>A	13.37:g.110813712C>T						COL4A1_ENST00000467182.1_5'UTR	p.T1489T	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		49	4588	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1489			Collagen IV NC1.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.4467G>A	CCDS9511.1																																																																																				0.438	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			3	17	0	0	0	0.115264	0	3	17				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			9	64	0	0	0	0.335167	0	9	64				
LOC728323	728323	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	A	G	rs202109001		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:243061143A>G	ENST00000456398.1	+	0	491																											CTTGGGAGAAACCTTTAATCG	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061143A>G																													2.37:g.243061143A>G														0	491	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			4	48	0	0	0	0.150653	0	4	48				
UBE2V1	7335	broad.mit.edu	37	20	48700714	48700714	+	Silent	SNP	T	T	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	ENST00000371674.3	-	3	293	c.249A>G	c.(247-249)agA>agG	p.R83R	TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189_ENST00000557021.1_Silent_p.R306R|UBE2V1_ENST00000340309.3_Silent_p.R106R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000415862.2_Silent_p.R39R	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1	83					cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			TTGTTACAAATCTTACAAAGG	0.358																																						ENST00000557021.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8						c.(916-918)agA>agG		transmembrane protein 189							96.0	105.0	102.0					20																	48700714		2203	4300	6503	SO:0001819	synonymous_variant	387521							g.chr20:48700714T>C	U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.249A>G	20.37:g.48700714T>C						UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000415862.2_Silent_p.R39R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000371674.3_Silent_p.R83R|UBE2V1_ENST00000340309.3_Silent_p.R106R	p.R306R	NM_199203.2	NP_954673.1			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)		7	1078	-								E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	Silent	SNP	ENST00000371674.3	37	c.918A>G	CCDS33483.1																																																																																				0.358	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080530.1	NM_021988		23	108	0	0	0	0.608945	0	23	108				
UBR5	51366	broad.mit.edu	37	8	103297901	103297901	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	ENST00000520539.1	-	39	5930	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N|UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1775					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGGTAACTGCTGGCGTTGCT	0.463																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5323-5325)aGc>aAc		ubiquitin protein ligase E3 component n-recognin 5							81.0	77.0	78.0					8																	103297901		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297901C>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5324G>A	8.37:g.103297901C>T	ENSP00000429084:p.Ser1775Asn					UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N	p.S1775N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	5930	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1775					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.5324G>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318019	0.60524	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.45276	0.9;0.9;0.9	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	N	0.22421	0.69	0.80722	D	1	D;D	0.54601	0.967;0.967	P;P	0.60682	0.878;0.878	T	0.33111	-0.9881	10	0.27785	T	0.31	.	19.8316	0.96638	0.0:1.0:0.0:0.0	.	1769;1775	E7EMW7;O95071	.;UBR5_HUMAN	N	1775;1775;1769	ENSP00000429084:S1775N;ENSP00000220959:S1775N;ENSP00000427819:S1769N	ENSP00000220959:S1775N	S	-	2	0	UBR5	103367077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.687000	0.91594	0.563000	0.77884	AGC		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		19	77	0	0	0	0.557998	0	19	77				
EPHX1	2052	broad.mit.edu	37	1	226032903	226032903	+	Missense_Mutation	SNP	C	C	T	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	ENST00000366837.4	+	9	1419	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	408			T -> M (in dbSNP:rs45495897). {ECO:0000269|Ref.8}.		aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)	p.T408K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567													C|||	14	0.00279553	0.0106	0.0	5008	,	,		13289	0.0		0.0	False		,,,				2504	0.0					ENST00000366837.4																			1	Substitution - Missense(1)	p.T408K(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1222-1224)aCg>aTg		epoxide hydrolase 1, microsomal (xenobiotic)		C	MET/THR,MET/THR	73,4333	64.1+/-101.4	0,73,2130	102.0	93.0	96.0		1223,1223	-7.7	0.0	1	dbSNP_127	96	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	EPHX1	NM_000120.3,NM_001136018.2	81,81	0,74,6429	TT,TC,CC		0.0116,1.6568,0.569	benign,benign	408/456,408/456	226032903	74,12932	2203	4300	6503	SO:0001583	missense	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226032903C>T	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.1223C>T	1.37:g.226032903C>T	ENSP00000355802:p.Thr408Met					EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	p.T408M	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			9	1419	+	Breast(184;0.197)		408		T -> M (in dbSNP:rs45495897).			B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	c.1223C>T	CCDS1547.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	C	5.492	0.275694	0.10403	0.016568	1.16E-4	ENSG00000143819	ENST00000272167;ENST00000366837	T;T	0.08193	3.12;3.12	5.0	-7.74	0.01241	.	1.893820	0.04100	N	0.312665	T	0.03390	0.0098	L	0.56280	1.765	0.09310	N	1	P	0.40332	0.713	B	0.32022	0.139	T	0.27054	-1.0085	10	0.31617	T	0.26	-1.9076	12.4983	0.55942	0.0:0.5903:0.1421:0.2676	rs45495897	408	P07099	HYEP_HUMAN	M	408	ENSP00000272167:T408M;ENSP00000355802:T408M	ENSP00000272167:T408M	T	+	2	0	EPHX1	224099526	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-1.655000	0.01982	-1.069000	0.03153	-0.379000	0.06801	ACG		0.567	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		9	84	0	0	0	0.361761	0	9	84				
DOCK5	80005	broad.mit.edu	37	8	25181376	25181376	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	ENST00000276440.7	+	17	1672	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	543	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1627-1629)tCg>tTg		dedicator of cytokinesis 5							79.0	62.0	67.0					8																	25181376		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25181376C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1628C>T	8.37:g.25181376C>T	ENSP00000276440:p.Ser543Leu						p.S543L	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	17	1672	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	543			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.1628C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837911	0.91117	.	.	ENSG00000147459	ENST00000276440	T	0.15372	2.43	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.67397	2.05	0.58432	D	0.999999	P;P;D	0.59357	0.949;0.949;0.985	P;P;P	0.48921	0.595;0.491;0.595	T	0.02639	-1.1130	10	0.72032	D	0.01	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	533;318;543	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	L	543	ENSP00000276440:S543L	ENSP00000276440:S543L	S	+	2	0	DOCK5	25237293	1.000000	0.71417	0.992000	0.48379	0.827000	0.46813	5.999000	0.70665	2.765000	0.95021	0.655000	0.94253	TCG		0.532	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		5	12	0	0	0	0.184627	0	5	12				
OR2Z1	284383	broad.mit.edu	37	19	8841797	8841797	+	Missense_Mutation	SNP	T	T	C	rs566429260		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	ENST00000324060.2	+	1	482	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547													T|||	1	0.000199681	0.0	0.0	5008	,	,		21802	0.0		0.0	False		,,,				2504	0.001					ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(406-408)aTg>aCg		olfactory receptor, family 2, subfamily Z, member 1							151.0	120.0	131.0					19																	8841797		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841797T>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.407T>C	19.37:g.8841797T>C	ENSP00000316284:p.Met136Thr						p.M136T	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	482	+			136					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.407T>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.628203	0.28978	.	.	ENSG00000181733	ENST00000324060	T	0.00578	6.44	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.05135	0.0137	H	0.98089	4.145	0.29223	N	0.873783	D	0.76494	0.999	D	0.68765	0.96	T	0.07347	-1.0777	10	0.87932	D	0	.	11.9172	0.52771	0.0:0.0:0.0:1.0	.	136	Q8NG97	OR2Z1_HUMAN	T	136	ENSP00000316284:M136T	ENSP00000316284:M136T	M	+	2	0	OR2Z1	8702797	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	5.128000	0.64733	1.772000	0.52199	0.444000	0.29173	ATG		0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			24	98	0	0	0	0.667858	0	24	98				
RAPGEF2	9693	broad.mit.edu	37	4	160251116	160251116	+	Missense_Mutation	SNP	G	G	A	rs376476743		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:160251116G>A	ENST00000264431.4	+	6	1192	c.773G>A	c.(772-774)cGa>cAa	p.R258Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	258					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAGAACACCGAGAACTTGAT	0.413																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(772-774)cGa>cAa		Rap guanine nucleotide exchange factor (GEF) 2		G	GLN/ARG	0,3842		0,0,1921	141.0	131.0	134.0		773	5.9	1.0	4		134	1,8257		0,1,4128	no	missense	RAPGEF2	NM_014247.2	43	0,1,6049	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	258/1500	160251116	1,12099	1921	4129	6050	SO:0001583	missense	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160251116G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.773G>A	4.37:g.160251116G>A	ENSP00000264431:p.Arg258Gln						p.R258Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	6	1192	+	all_hematologic(180;0.24)		258					D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	c.773G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	37	6.004938	0.97195	0.0	1.21E-4	ENSG00000109756	ENST00000264431	T	0.45668	0.89	5.87	5.87	0.94306	Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72343	-0.4322	10	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	258	Q9Y4G8	RPGF2_HUMAN	Q	258	ENSP00000264431:R258Q	ENSP00000264431:R258Q	R	+	2	0	RAPGEF2	160470566	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGA		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		4	72	0	0	0	0.150653	0	4	72				
HERC2P9	440248	broad.mit.edu	37	15	28929385	28929385	+	RNA	SNP	T	T	C	rs692172	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr15:28929385T>C	ENST00000528584.1	+	0	1922					NR_036443.1				hect domain and RLD 2 pseudogene 9																		CACGCTGCGGTGGTCTTGCAT	0.453													t|||	762	0.152157	0.1876	0.1066	5008	,	,		13291	0.4038		0.004	False		,,,				2504	0.0297					ENST00000528584.1																			0																																																			0							g.chr15:28929385T>C	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929385T>C								NR_036443.1						0	1922	+									RNA	SNP	ENST00000528584.1	37																																																																																						0.453	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		3	37	0	0	0	0.150653	0	3	37				
REM2	161253	broad.mit.edu	37	14	23354154	23354154	+	Silent	SNP	G	G	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	ENST00000267396.4	+	2	498	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_ENST00000536884.1_Silent_p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	125					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607																																						ENST00000267396.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5						c.(373-375)gtG>gtA		RAS (RAD and GEM)-like GTP binding 2							48.0	53.0	51.0					14																	23354154		2108	4232	6340	SO:0001819	synonymous_variant	161253				regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding	g.chr14:23354154G>A		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.375G>A	14.37:g.23354154G>A						REM2_ENST00000536884.1_Silent_p.V125V	p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN		GBM - Glioblastoma multiforme(265;0.012)	2	498	+	all_cancers(95;4.69e-05)		125					B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	37	c.375G>A	CCDS45082.1																																																																																				0.607	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527		15	49	0	0	0	0.457914	0	15	49				
SLCO4C1	353189	broad.mit.edu	37	5	101592891	101592891	+	Missense_Mutation	SNP	G	G	A	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	ENST00000310954.6	-	8	1683	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAAACTCAGCGTAAGTGCAAC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		18172	0.001		0.0	False		,,,				2504	0.0					ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1396-1398)aCg>aTg		solute carrier organic anion transporter family, member 4C1		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	103.0	101.0	102.0		1397	-7.1	0.0	5	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLCO4C1	NM_180991.4	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	466/725	101592891	2,13004	2203	4300	6503	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101592891G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1397C>T	5.37:g.101592891G>A	ENSP00000309741:p.Thr466Met						p.T466M	NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	8	1683	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	466						Missense_Mutation	SNP	ENST00000310954.6	37	c.1397C>T	CCDS34205.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.756	0.323901	0.10900	2.27E-4	1.16E-4	ENSG00000173930	ENST00000310954	T	0.81078	-1.45	5.78	-7.13	0.01532	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.033910	0.01821	N	0.034053	T	0.56543	0.1992	N	0.01729	-0.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53947	-0.8366	10	0.45353	T	0.12	.	10.7214	0.46042	0.3748:0.1134:0.5118:0.0	.	466	Q6ZQN7	SO4C1_HUMAN	M	466	ENSP00000309741:T466M	ENSP00000309741:T466M	T	-	2	0	SLCO4C1	101620790	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	0.229000	0.17833	-1.548000	0.01712	-0.438000	0.05819	ACG		0.353	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		5	45	0	0	0	0.217242	0	5	45				
PLA2G4A	5321	broad.mit.edu	37	1	186863284	186863284	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	ENST00000367466.3	+	5	471	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	107	Phospholipid binding. {ECO:0000305}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GACAGCAACATTTACTGTATC	0.333																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(319-321)Ttt>Gtt		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						149.0	146.0	147.0					1																	186863284		2203	4298	6501	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186863284T>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.319T>G	1.37:g.186863284T>G	ENSP00000356436:p.Phe107Val					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V|PLA2G4A_ENST00000466600.1_3'UTR	p.F107V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			5	471	+			107			Phospholipid binding (Probable).		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.319T>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.246359	0.80024	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.61627	0.09;0.09	5.71	5.71	0.89125	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.101352	0.64402	D	0.000001	T	0.60353	0.2262	L	0.50333	1.59	0.51767	D	0.999939	P;P	0.47762	0.9;0.878	P;P	0.50537	0.643;0.48	T	0.55611	-0.8114	10	0.17832	T	0.49	-20.0835	15.1854	0.72996	0.0:0.0:0.0:1.0	.	107;107	E7EU42;P47712	.;PA24A_HUMAN	V	107	ENSP00000356436:F107V;ENSP00000406892:F107V	ENSP00000356436:F107V	F	+	1	0	PLA2G4A	185129907	1.000000	0.71417	0.880000	0.34516	0.713000	0.41058	7.356000	0.79445	2.171000	0.68590	0.528000	0.53228	TTT		0.333	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		20	46	0	0	0	0.654019	0	20	46				
FAM154A	158297	broad.mit.edu	37	9	18928829	18928829	+	Missense_Mutation	SNP	C	C	T	rs117915008	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	ENST00000380534.4	-	4	925	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	216										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507													C|||	3	0.000599042	0.0	0.0	5008	,	,		19568	0.001		0.0	False		,,,				2504	0.002					ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(646-648)Gtg>Atg		family with sequence similarity 154, member A							96.0	98.0	98.0					9																	18928829		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928829C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.646G>A	9.37:g.18928829C>T	ENSP00000369907:p.Val216Met					FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	p.V216M	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	925	-			216					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.646G>A	CCDS6487.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.234	0.599856	0.13939	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.18960	2.18;2.18	5.09	-10.2	0.00374	.	1.409270	0.04282	N	0.344092	T	0.06872	0.0175	N	0.04297	-0.235	0.09310	N	1	B	0.24043	0.096	B	0.21917	0.037	T	0.23332	-1.0191	10	0.32370	T	0.25	0.985	3.0495	0.06165	0.2059:0.5163:0.1782:0.0996	.	216	Q8IYX7	F154A_HUMAN	M	216;24	ENSP00000369907:V216M;ENSP00000438823:V24M	ENSP00000369907:V216M	V	-	1	0	FAM154A	18918829	0.000000	0.05858	0.000000	0.03702	0.931000	0.56810	-1.654000	0.01984	-3.043000	0.00262	-0.827000	0.03088	GTG		0.507	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		15	73	0	0	0	0.500413	0	15	73				
CCDC158	339965	broad.mit.edu	37	4	77317545	77317545	+	Silent	SNP	A	A	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	ENST00000388914.3	-	3	317	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_ENST00000434846.2_Silent_p.P55P|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(163-165)ccT>ccC		coiled-coil domain containing 158							81.0	78.0	79.0					4																	77317545		1814	4077	5891	SO:0001819	synonymous_variant	339965							g.chr4:77317545A>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.165T>C	4.37:g.77317545A>G						CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Silent_p.P55P	p.P55P	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			3	317	-			55					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.165T>C	CCDS43242.1																																																																																				0.358	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		5	57	0	0	0	0.184627	0	5	57				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			2	7	0	0	0	0.115264	0	2	7				
PADI2	11240	broad.mit.edu	37	1	17413096	17413096	+	Missense_Mutation	SNP	C	C	T	rs192937557		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	ENST00000375486.4	-	7	817	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_ENST00000375481.1_Missense_Mutation_p.V252M|PADI2_ENST00000444885.2_Silent_p.S170S	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	252					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17530	0.0		0.0	False		,,,				2504	0.0					ENST00000375486.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29						c.(754-756)Gtg>Atg		peptidyl arginine deiminase, type II	L-Citrulline(DB00155)	C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	67.0	70.0	69.0		754	4.2	1.0	1		69	0,8600		0,0,4300	no	missense	PADI2	NM_007365.2	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	252/666	17413096	2,13004	2203	4300	6503	SO:0001583	missense	11240				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17413096C>T	AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"""Peptidyl arginine deiminases"""	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.754G>A	1.37:g.17413096C>T	ENSP00000364635:p.Val252Met					PADI2_ENST00000444885.2_Silent_p.S170S|PADI2_ENST00000375481.1_Missense_Mutation_p.V252M	p.V252M	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	7	817	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)	252					Q96DA7|Q9UPN2	Missense_Mutation	SNP	ENST00000375486.4	37	c.754G>A	CCDS177.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	17.68	3.448384	0.63178	4.54E-4	0.0	ENSG00000117115	ENST00000375486;ENST00000375481	T;T	0.25749	1.78;1.78	5.08	4.16	0.48862	Protein-arginine deiminase (PAD), central domain (2);	0.123357	0.53938	D	0.000043	T	0.45955	0.1368	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44050	-0.9353	10	0.87932	D	0	-27.7063	11.687	0.51492	0.0:0.9131:0.0:0.0869	.	252	Q9Y2J8	PADI2_HUMAN	M	252	ENSP00000364635:V252M;ENSP00000364630:V252M	ENSP00000364630:V252M	V	-	1	0	PADI2	17285683	0.999000	0.42202	1.000000	0.80357	0.296000	0.27459	4.388000	0.59633	2.359000	0.80004	0.460000	0.39030	GTG		0.617	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006624.1			12	59	0	0	0	0.411799	0	12	59				
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	rs147592698	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													G|||	8	0.00159744	0.0	0.0	5008	,	,		17226	0.0079		0.0	False		,,,				2504	0.0					ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(541-543)cGc>cAc		tripartite motif containing 58		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	57.0	63.0		542	1.3	0.2	1	dbSNP_134	63	0,8600		0,0,4300	yes	missense	TRIM58	NM_015431.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	181/487	248028032	1,13005	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028032G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.542G>A	1.37:g.248028032G>A	ENSP00000355437:p.Arg181His						p.R181H	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	590	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	181					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.542G>A	CCDS1636.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.79	2.641317	0.47153	2.27E-4	0.0	ENSG00000162722	ENST00000366481	T	0.04706	3.57	4.25	1.29	0.21616	.	0.622326	0.13793	N	0.362392	T	0.06826	0.0174	M	0.81179	2.53	0.09310	N	0.999999	B	0.30563	0.285	B	0.23716	0.048	T	0.29458	-1.0011	10	0.72032	D	0.01	.	3.4156	0.07375	0.2901:0.0:0.5304:0.1795	.	181	Q8NG06	TRI58_HUMAN	H	181	ENSP00000355437:R181H	ENSP00000355437:R181H	R	+	2	0	TRIM58	246094655	0.001000	0.12720	0.182000	0.23118	0.606000	0.37113	-0.027000	0.12371	0.170000	0.19704	0.655000	0.94253	CGC		0.592	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		6	29	0	0	0	0.248553	0	6	29				
AP1G2	8906	broad.mit.edu	37	14	24035874	24035874	+	Missense_Mutation	SNP	C	C	T	rs533882993		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	ENST00000308724.5	-	2	981	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	76					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527																																						ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(226-228)Gcc>Acc		adaptor-related protein complex 1, gamma 2 subunit							142.0	131.0	135.0					14																	24035874		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24035874C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.226G>A	14.37:g.24035874C>T	ENSP00000312442:p.Ala76Thr					RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR|AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T	p.A76T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	2	981	-	all_cancers(95;0.000251)		76					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.226G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048452	0.93740	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000557189;ENST00000556843	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.79	4.79	0.61399	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.88377	2.95	0.80722	D	1	D	0.67145	0.996	D	0.64237	0.923	T	0.67929	-0.5543	10	0.66056	D	0.02	-15.2859	15.3764	0.74607	0.0:1.0:0.0:0.0	.	76	O75843	AP1G2_HUMAN	T	76	ENSP00000312442:A76T;ENSP00000380309:A76T;ENSP00000452153:A76T;ENSP00000451504:A76T	ENSP00000312442:A76T	A	-	1	0	AP1G2	23105714	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.297000	0.65704	2.503000	0.84419	0.491000	0.48974	GCC		0.527	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		18	114	0	0	0	0.557998	0	18	114				
UBXN8	7993	broad.mit.edu	37	8	30601805	30601805	+	RNA	SNP	C	C	T	rs2278092	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:30601805C>T	ENST00000519246.1	+	0	115							O00124	UBXN8_HUMAN	UBX domain protein 8						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|single fertilization (GO:0007338)	integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(1)|lung(2)	3						GTAAGTGTGACTTTTTCCCTT	0.532													C|||	2899	0.578874	0.1172	0.7219	5008	,	,		17798	0.8036		0.8221	False		,,,				2504	0.6196				Colon(169;855 1943 17895 39459 47884)	ENST00000519246.1																			0				central_nervous_system(1)|lung(2)	3								UBX domain protein 8		C		1018,2940		132,754,1093	61.0	62.0	62.0			-2.5	0.0	8	dbSNP_100	62	6807,1485		2788,1231,127	no	intron	UBXN8	NM_005671.2		2920,1985,1220	TT,TC,CC		17.9088,25.7201,36.1224			30601805	7825,4425	1979	4146	6125			7993				single fertilization			g.chr8:30601805C>T	D83767	CCDS75723.1, CCDS75724.1, CCDS75725.1	8p12-p11.2	2012-07-06	2008-07-25	2008-07-25		ENSG00000104691		"""UBX domain containing"""	30307	protein-coding gene	gene with protein product		602155	"""UBX domain containing 6"""	UBXD6		9027507, 21949850	Standard	NM_005671		Approved	D8S2298E, REP8	uc003xii.3	O00124			8.37:g.30601805C>T										O00124	UBXN8_HUMAN			0	115	+								Q7Z6F2	RNA	SNP	ENST00000519246.1	37																																																																																						0.532	UBXN8-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000375957.1	NM_005671		4	18	0	0	0	0.150653	0	4	18				
AGO1	26523	broad.mit.edu	37	1	36379854	36379855	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:36379854_36379855insA	ENST00000373204.4	+	14	2025_2026	c.1812_1813insA	c.(1813-1815)aaafs	p.K605fs	AGO1_ENST00000373206.1_Frame_Shift_Ins_p.K530fs	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	605	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CAGGGGATGGGAAAAAACCTTC	0.48																																						ENST00000373204.4																			0											c.(1810-1815)ggaaaafs		argonaute RISC catalytic component 1																																				SO:0001589	frameshift_variant	26523							g.chr1:36379854_36379855insA	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1818dupA	1.37:g.36379860_36379860dupA	ENSP00000362300:p.Lys605fs					AGO1_ENST00000373206.1_Frame_Shift_Ins_p.GK529fs	p.GK604fs	NM_012199.2	NP_036331.1					14	2025_2026	+								Q5TA57|Q6P4S0	Frame_Shift_Ins	INS	ENST00000373204.4	37	c.1812_1813insA	CCDS398.1																																																																																				0.480	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			19	65						19	65	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	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	4						4	4	---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	ENST00000312358.7	+	30	7165_7166	c.7033_7034delCT	c.(7033-7035)ctgfs	p.L2345fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGGG	0.698																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7033-7035)gfs		SPEG complex locus																																				SO:0001589	frameshift_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220349218_220349219delCT	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7033_7034delCT	2.37:g.220349218_220349219delCT	ENSP00000311684:p.Leu2345fs					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.L2345fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	7165_7166	+		Renal(207;0.0183)	2345			Arg-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	ENST00000312358.7	37	c.7033_7034delCT	CCDS42824.1																																																																																				0.698	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		7	14						7	14	---	---	---	---
SFR1	119392	broad.mit.edu	37	10	105882649	105882653	+	Intron	DEL	AATAT	AATAT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:105882649_105882653delAATAT	ENST00000369727.3	+	2	32				SFR1_ENST00000336358.5_Frame_Shift_Del_p.IY43fs|SFR1_ENST00000369729.3_Intron|SFR1_ENST00000463224.1_Intron	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1						double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											ACACCAATACAATATATTATTTGAT	0.298																																						ENST00000336358.5																			0											c.(124-132)acatfs		SWI5-dependent recombination repair 1																																				SO:0001627	intron_variant	119392				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr10:105882649_105882653delAATAT	BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.14-70AATAT>-	10.37:g.105882649_105882653delAATAT						SFR1_ENST00000369729.3_Intron|SFR1_ENST00000369727.3_Intron|SFR1_ENST00000463224.1_Intron	p.TIY42fs			Q86XK3	SFR1_HUMAN			1	645_649	+			0					A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Frame_Shift_Del	DEL	ENST00000369727.3	37	c.126_130delAATAT	CCDS31279.1																																																																																				0.298	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050191.1	NM_145247		4	7						4	7	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78212706	78212711	+	lincRNA	DEL	AGGGCT	AGGGCT	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr15:78212706_78212711delAGGGCT	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							gccccttaaaagggctagggctaggc	0.51																																						ENST00000565869.1																			0																																																			0							g.chr15:78212706_78212711delAGGGCT																													15.37:g.78212712_78212717delAGGGCT						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	DEL	ENST00000565869.1	37																																																																																						0.510	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	4						3	4	---	---	---	---
