#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
STX19	415117	broad.mit.edu	37	3	93733522	93733522	+	Silent	SNP	A	A	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:93733522A>G	ENST00000315099.2	-	2	848	c.592T>C	c.(592-594)Tta>Cta	p.L198L	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	198					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTGTAAGTAAGCTTTCATTA	0.328																																						ENST00000315099.2																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						c.(592-594)Tta>Cta		syntaxin 19							81.0	83.0	82.0					3																	93733522		2203	4300	6503	SO:0001819	synonymous_variant	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733522A>G	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.592T>C	3.37:g.93733522A>G						ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron	p.L198L	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN			2	848	-			198						Silent	SNP	ENST00000315099.2	37	c.592T>C	CCDS33793.1																																																																																				0.328	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		11	66	0	0	0	1	0	11	66				
ZNF629	23361	broad.mit.edu	37	16	30795077	30795077	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:30795077G>A	ENST00000262525.4	-	3	779	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CACCAGGTGCGAGCTCTGCGT	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(571-573)tCg>tTg		zinc finger protein 629							45.0	47.0	46.0					16																	30795077		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30795077G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.572C>T	16.37:g.30795077G>A	ENSP00000262525:p.Ser191Leu						p.S191L	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	779	-			191					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.572C>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614660	0.66672	.	.	ENSG00000102870	ENST00000262525	T	0.01705	4.68	4.96	4.96	0.65561	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40302	N	0.001140	T	0.10423	0.0255	M	0.74258	2.255	0.37682	D	0.923535	D	0.89917	1.0	D	0.74348	0.983	T	0.01371	-1.1372	10	0.72032	D	0.01	-14.4716	17.3378	0.87287	0.0:0.0:1.0:0.0	.	191	Q9UEG4	ZN629_HUMAN	L	191	ENSP00000262525:S191L	ENSP00000262525:S191L	S	-	2	0	ZNF629	30702578	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.658000	0.24979	2.459000	0.83118	0.561000	0.74099	TCG		0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		4	35	0	0	0	1	0	4	35				
BSDC1	55108	broad.mit.edu	37	1	32842101	32842101	+	Silent	SNP	G	G	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:32842101G>T	ENST00000455895.2	-	9	951	c.918C>A	c.(916-918)tcC>tcA	p.S306S	BSDC1_ENST00000449308.1_Silent_p.S306S|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000413080.1_Silent_p.S245S|BSDC1_ENST00000446293.2_Silent_p.S323S|BSDC1_ENST00000526031.1_Silent_p.S211S|BSDC1_ENST00000419121.2_Silent_p.S250S|BSDC1_ENST00000341071.7_Silent_p.S323S	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	306										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCAGCTTTTGGGACAGGTCCT	0.597																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(967-969)tcC>tcA		BSD domain containing 1							107.0	99.0	102.0					1																	32842101		2203	4300	6503	SO:0001819	synonymous_variant	55108						protein binding	g.chr1:32842101G>T	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.918C>A	1.37:g.32842101G>T						BSDC1_ENST00000446293.2_Silent_p.S323S|BSDC1_ENST00000419121.2_Silent_p.S250S|BSDC1_ENST00000526031.1_Silent_p.S211S|BSDC1_ENST00000455895.2_Silent_p.S306S|BSDC1_ENST00000449308.1_Silent_p.S306S|BSDC1_ENST00000413080.1_Silent_p.S245S	p.S323S			Q9NW68	BSDC1_HUMAN			9	980	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	306					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	ENST00000455895.2	37	c.969C>A	CCDS363.2																																																																																				0.597	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		41	58	1	0	1.04594e-18	1	1.13029e-18	41	58				
TTN	7273	broad.mit.edu	37	2	179613099	179613099	+	Intron	SNP	A	A	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:179613099A>C	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.I4676M			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGGAAGAAATTTCTTGAC	0.333																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14026-14028)atT>atG		titin							85.0	94.0	91.0					2																	179613099		2203	4297	6500	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613099A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4751T>G	2.37:g.179613099A>C						TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA	p.I4676M	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14250	-			791			Ig-like 27.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14028T>G		.	.	.	.	.	.	.	.	.	.	A	16.63	3.176655	0.57692	.	.	ENSG00000155657	ENST00000360870	T	0.62498	0.02	5.29	-2.59	0.06209	.	.	.	.	.	T	0.45276	0.1334	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.39375	-0.9617	9	0.54805	T	0.06	.	10.7693	0.46312	0.246:0.6307:0.0:0.1233	.	4676	Q8WZ42-6	.	M	4676	ENSP00000354117:I4676M	ENSP00000354117:I4676M	I	-	3	3	TTN	179321344	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	-0.641000	0.05434	-0.300000	0.08895	-0.323000	0.08544	ATT		0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	105	0	0	0	1	0	21	105				
CNTN3	5067	broad.mit.edu	37	3	74419100	74419100	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:74419100G>C	ENST00000263665.6	-	6	728	c.701C>G	c.(700-702)cCa>cGa	p.P234R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	234	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGAGTTTCTGGAAACTGAAC	0.333																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(700-702)cCa>cGa		contactin 3 (plasmacytoma associated)							99.0	101.0	100.0					3																	74419100		2203	4298	6501	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74419100G>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.701C>G	3.37:g.74419100G>C	ENSP00000263665:p.Pro234Arg						p.P234R	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	6	728	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	234			Ig-like C2-type 3.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.701C>G	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328428	0.81690	.	.	ENSG00000113805	ENST00000263665	D	0.96940	-4.18	5.41	5.41	0.78517	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.308822	0.36303	N	0.002668	D	0.97732	0.9256	M	0.76002	2.32	0.58432	D	0.999998	B	0.22604	0.072	P	0.47528	0.549	D	0.96286	0.9210	10	0.49607	T	0.09	.	19.5658	0.95391	0.0:0.0:1.0:0.0	.	234	Q9P232	CNTN3_HUMAN	R	234	ENSP00000263665:P234R	ENSP00000263665:P234R	P	-	2	0	CNTN3	74501790	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.277000	0.72608	2.689000	0.91719	0.655000	0.94253	CCA		0.333	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		12	59	0	0	0	1	0	12	59				
ATG2A	23130	broad.mit.edu	37	11	64677554	64677554	+	Silent	SNP	C	C	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:64677554C>A	ENST00000377264.3	-	13	1933	c.1821G>T	c.(1819-1821)ctG>ctT	p.L607L	ATG2A_ENST00000421419.2_Silent_p.L607L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	607					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGCCAGGCGCAGTAGGGCGG	0.721																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1819-1821)ctG>ctT		autophagy related 2A							12.0	17.0	15.0					11																	64677554		2176	4268	6444	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64677554C>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1821G>T	11.37:g.64677554C>A						ATG2A_ENST00000377264.3_Silent_p.L607L	p.L607L			Q2TAZ0	ATG2A_HUMAN			13	1935	-			607					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1821G>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	0.500	-0.871565	0.02570	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.64	1.37	0.22104	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.20926	N	0.999822	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	.	11.9563	0.52983	0.0:0.4548:0.5452:0.0	.	.	.	.	S	409	.	.	A	-	1	0	ATG2A	64434130	0.001000	0.12720	0.389000	0.26208	0.156000	0.22039	-0.429000	0.06982	0.623000	0.30267	0.561000	0.74099	GCG		0.721	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		3	20	1	0	0.115264	1	0.115264	3	20				
OLFM3	118427	broad.mit.edu	37	1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:102290602C>T	ENST00000338858.5	-	4	631	c.632G>A	c.(631-633)cGt>cAt	p.R211H	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000370103.4_Missense_Mutation_p.R191H|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H			Q96PB7	NOE3_HUMAN	olfactomedin 3	211					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(571-573)cGt>cAt		olfactomedin 3							135.0	129.0	131.0					1																	102290602		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102290602C>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.632G>A	1.37:g.102290602C>T	ENSP00000345192:p.Arg211His					OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H	p.R191H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	4	785	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	211					Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.572G>A		.	.	.	.	.	.	.	.	.	.	C	14.36	2.513548	0.44763	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.88509	-2.37;-2.39;-0.95;0.42	5.86	5.86	0.93980	.	0.053965	0.85682	D	0.000000	T	0.75576	0.3868	N	0.20766	0.605	0.39718	D	0.971433	B;B	0.12013	0.005;0.002	B;B	0.06405	0.002;0.0	T	0.69327	-0.5174	10	0.24483	T	0.36	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	191;211	Q5T3V6;Q96PB7	.;NOE3_HUMAN	H	62;191;211;116;211	ENSP00000359121:R191H;ENSP00000345192:R211H;ENSP00000443471:R116H;ENSP00000352867:R211H	ENSP00000345192:R211H	R	-	2	0	OLFM3	102063190	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.039000	0.57325	2.777000	0.95525	0.655000	0.94253	CGT		0.373	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			7	40	0	0	0	1	0	7	40				
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:7579311C>G	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCAACTGACCGTGCAAGTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579311C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>C	17.37:g.7579311C>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891924	0.72524	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	49	14	0	0	0	1	0	49	14				
PRB3	5544	broad.mit.edu	37	12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420518G>A	ENST00000279573.7	-	3	800	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB3_ENST00000538488.1_Missense_Mutation_p.P201L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							67.0	32.0	44.0					12																	11420518		1671	3268	4939	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420518G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.665C>T	12.37:g.11420518G>A	ENSP00000279573:p.Pro222Leu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	6.581	0.475470	0.12521	.	.	ENSG00000197870	ENST00000538488	T	0.06608	3.28	1.25	0.0362	0.14191	.	0.262416	0.17612	U	0.168043	T	0.10078	0.0247	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.52343	0.696	T	0.13335	-1.0513	9	0.62326	D	0.03	.	5.8164	0.18495	0.0:0.0:0.3623:0.6377	.	222	Q04118	PRB3_HUMAN	L	201	ENSP00000442626:P201L	ENSP00000442626:P201L	P	-	2	0	PRB3	11311785	0.003000	0.15002	0.002000	0.10522	0.010000	0.07245	1.332000	0.33805	-0.002000	0.14469	0.194000	0.17425	CCG		0.617	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		84	852	0	0	0	1	0	84	852				
SDK2	54549	broad.mit.edu	37	17	71375616	71375616	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:71375616G>A	ENST00000392650.3	-	35	4835	c.4835C>T	c.(4834-4836)cCc>cTc	p.P1612L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1593L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1612	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCTGCGGGGGGCTGGAGGG	0.657																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(4834-4836)cCc>cTc		sidekick cell adhesion molecule 2							44.0	42.0	43.0					17																	71375616		2203	4299	6502	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71375616G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4835C>T	17.37:g.71375616G>A	ENSP00000376421:p.Pro1612Leu					SDK2_ENST00000388726.3_Missense_Mutation_p.P1593L	p.P1612L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			35	4835	-			1612			Fibronectin type-III 10.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.4835C>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721801	0.30503	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.54071	0.59;0.59;0.59	4.61	4.61	0.57282	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.307825	0.36066	N	0.002810	T	0.44603	0.1301	L	0.42581	1.335	0.40077	D	0.976083	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.10450	0.005;0.001;0.003	T	0.45160	-0.9280	10	0.54805	T	0.06	.	11.359	0.49632	0.0844:0.0:0.9156:0.0	.	1612;1612;1593	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	1236;1612;1593;769;1612	ENSP00000376421:P1612L;ENSP00000373378:P1593L;ENSP00000407098:P769L	ENSP00000324967:P1612L	P	-	2	0	SDK2	68887211	0.999000	0.42202	0.459000	0.27081	0.144000	0.21451	7.674000	0.83992	2.275000	0.75901	0.561000	0.74099	CCC		0.657	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		3	40	0	0	0	1	0	3	40				
AMFR	267	broad.mit.edu	37	16	56442018	56442018	+	Missense_Mutation	SNP	G	G	A	rs147760918		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:56442018G>A	ENST00000290649.5	-	4	734	c.524C>T	c.(523-525)tCg>tTg	p.S175L	RP11-413H22.2_ENST00000563090.1_RNA	NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	175					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGTGGTGGGCGAGAAGGAAAG	0.532																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(523-525)tCg>tTg		autocrine motility factor receptor, E3 ubiquitin protein ligase		G	LEU/SER	0,4396		0,0,2198	74.0	64.0	67.0		524	6.2	1.0	16	dbSNP_134	67	2,8598	2.2+/-6.3	0,2,4298	no	missense	AMFR	NM_001144.4	145	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	175/644	56442018	2,12994	2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56442018G>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.524C>T	16.37:g.56442018G>A	ENSP00000290649:p.Ser175Leu						p.S175L	NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN			4	734	-			175					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.524C>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.903220	0.97087	0.0	2.33E-4	ENSG00000159461	ENST00000290649	T	0.39406	1.08	6.17	6.17	0.99709	.	0.095304	0.85682	D	0.000000	T	0.62319	0.2418	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	P	0.58520	0.84	T	0.61811	-0.6986	10	0.87932	D	0	-7.8166	20.8794	0.99867	0.0:0.0:1.0:0.0	.	175	Q9UKV5	AMFR2_HUMAN	L	175	ENSP00000290649:S175L	ENSP00000290649:S175L	S	-	2	0	AMFR	54999519	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	TCG		0.532	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			8	19	0	0	0	1	0	8	19				
PRB3	5544	broad.mit.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000538488.1_Missense_Mutation_p.P180L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000381842.3_Missense_Mutation_p.P201L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							83.0	114.0	104.0					12																	11420581		1628	3653	5281	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420581G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.602C>T	12.37:g.11420581G>A	ENSP00000279573:p.Pro201Leu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	639	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	7.574	0.667426	0.14710	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.06608	3.34;3.28	0.894	0.894	0.19242	.	0.000000	0.26109	U	0.026296	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.63877	0.919	T	0.04320	-1.0960	9	0.49607	T	0.09	.	4.1826	0.10383	0.0:0.0:0.6006:0.3994	.	201	Q04118	PRB3_HUMAN	L	201;180	ENSP00000371264:P201L;ENSP00000442626:P180L	ENSP00000279573:P201L	P	-	2	0	PRB3	11311848	0.099000	0.21834	0.002000	0.10522	0.018000	0.09664	2.322000	0.43814	0.809000	0.34255	0.134000	0.15878	CCG		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		99	1916	0	0	0	1	0	99	1916				
ZP3	7784	broad.mit.edu	37	7	76054391	76054391	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:76054391C>T	ENST00000394857.3	+	1	168	c.110C>T	c.(109-111)aCg>aTg	p.T37M	ZP3_ENST00000336517.4_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	37					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCCTGAGACGTCCGTACAG	0.587																																						ENST00000394857.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(109-111)aCg>aTg		zona pellucida glycoprotein 3 (sperm receptor)							32.0	28.0	29.0					7																	76054391		2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054391C>T	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.110C>T	7.37:g.76054391C>T	ENSP00000378326:p.Thr37Met					ZP3_ENST00000336517.4_5'UTR	p.T37M	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN			1	168	+			37					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.110C>T	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275018	0.40194	.	.	ENSG00000188372	ENST00000394857;ENST00000544121	T	0.11821	2.74	4.9	3.81	0.43845	.	1.051910	0.07574	U	0.919099	T	0.10252	0.0251	N	0.24115	0.695	0.09310	N	0.999998	D	0.58620	0.983	B	0.38156	0.266	T	0.19811	-1.0294	10	0.51188	T	0.08	0.1908	11.4079	0.49908	0.0:0.8933:0.0:0.1067	.	37	P21754	ZP3_HUMAN	M	37	ENSP00000378326:T37M	ENSP00000378326:T37M	T	+	2	0	ZP3	75892327	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.341000	0.07811	2.260000	0.74910	0.467000	0.42956	ACG		0.587	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			6	14	0	0	0	1	0	6	14				
PCIF1	63935	broad.mit.edu	37	20	44567656	44567656	+	Silent	SNP	C	C	T	rs577796206	byFrequency	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:44567656C>T	ENST00000372409.3	+	3	382	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	6					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATGAGAATCACGGCAGCCCCC	0.602													C|||	6	0.00119808	0.0	0.0	5008	,	,		16232	0.0		0.0	False		,,,				2504	0.0061					ENST00000372409.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						c.(16-18)caC>caT		PDX1 C-terminal inhibiting factor 1							73.0	72.0	73.0					20																	44567656		2203	4300	6503	SO:0001819	synonymous_variant	63935					nucleus		g.chr20:44567656C>T	AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.18C>T	20.37:g.44567656C>T							p.H6H	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN			3	382	+			6					E1P5P1|Q54AB9|Q9NT85	Silent	SNP	ENST00000372409.3	37	c.18C>T	CCDS13388.1																																																																																				0.602	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079550.1	NM_022104		12	86	0	0	0	1	0	12	86				
MUC17	140453	broad.mit.edu	37	7	100679309	100679309	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:100679309C>G	ENST00000306151.4	+	3	4676	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1538	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGCTGTCAC	0.473																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4612-4614)Cct>Gct		mucin 17, cell surface associated							256.0	227.0	237.0					7																	100679309		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679309C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4612C>G	7.37:g.100679309C>G	ENSP00000302716:p.Pro1538Ala						p.P1538A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4676	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1538			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4612C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.270551	0.01421	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	0.922	-1.84	0.07809	.	.	.	.	.	T	0.01254	0.0041	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.48456	-0.9034	9	0.12766	T	0.61	.	2.3303	0.04234	0.4708:0.3087:0.0:0.2205	.	1538	Q685J3	MUC17_HUMAN	A	1538	ENSP00000302716:P1538A	ENSP00000302716:P1538A	P	+	1	0	MUC17	100466029	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.083000	0.01364	-1.831000	0.01198	0.121000	0.15741	CCT		0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		46	250	0	0	0	1	0	46	250				
TTYH2	94015	broad.mit.edu	37	17	72246149	72246149	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:72246149C>T	ENST00000269346.4	+	9	1079	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	TTYH2_ENST00000529107.1_Silent_p.P314P|TTYH2_ENST00000441391.2_Silent_p.P14P|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	335						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGCCGTGCCCCTCTTCTCCA	0.652																																						ENST00000441391.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(40-42)ccC>ccT		tweety family member 2							72.0	67.0	69.0					17																	72246149		2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72246149C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1005C>T	17.37:g.72246149C>T						TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.P314P|TTYH2_ENST00000269346.4_Silent_p.P335P	p.P14P	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN			3	1254	+			335					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.42C>T	CCDS32717.1																																																																																				0.652	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			35	53	0	0	0	1	0	35	53				
KEL	3792	broad.mit.edu	37	7	142655011	142655011	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:142655011C>T	ENST00000355265.2	-	6	1049	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	192					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R192Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522																																						ENST00000355265.2																			1	Substitution - Missense(1)	p.R192Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(574-576)cGa>cAa		Kell blood group, metallo-endopeptidase							114.0	96.0	102.0					7																	142655011		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142655011C>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.575G>A	7.37:g.142655011C>T	ENSP00000347409:p.Arg192Gln					KEL_ENST00000479768.2_5'UTR	p.R192Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			6	1049	-	Melanoma(164;0.059)		192					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.575G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	c	8.521	0.868869	0.17322	.	.	ENSG00000197993	ENST00000355265;ENST00000467543	T;T	0.73469	-0.75;-0.75	5.8	-2.43	0.06522	Peptidase M13 (1);	1.151580	0.06546	N	0.744149	T	0.52451	0.1735	N	0.12182	0.205	0.09310	N	1	B	0.21309	0.054	B	0.13407	0.009	T	0.34104	-0.9842	10	0.11485	T	0.65	-9.7833	10.5741	0.45217	0.0:0.2753:0.0:0.7247	.	192	P23276	KELL_HUMAN	Q	192;173	ENSP00000347409:R192Q;ENSP00000420011:R173Q	ENSP00000347409:R192Q	R	-	2	0	KEL	142365133	0.012000	0.17670	0.277000	0.24703	0.616000	0.37450	-0.631000	0.05496	-0.318000	0.08665	-0.753000	0.03488	CGA		0.522	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		16	40	0	0	0	1	0	16	40				
COL4A5	1287	broad.mit.edu	37	X	107938508	107938508	+	Silent	SNP	A	A	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:107938508A>T	ENST00000361603.2	+	50	5059	c.4815A>T	c.(4813-4815)gcA>gcT	p.A1605A	COL4A5_ENST00000328300.6_Silent_p.A1611A	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1605	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATACAAGTGCAGGGGCAGAAG	0.488									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4831-4833)gcA>gcT		collagen, type IV, alpha 5							142.0	125.0	131.0					X																	107938508		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938508A>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4815A>T	X.37:g.107938508A>T						COL4A5_ENST00000361603.2_Silent_p.A1605A	p.A1611A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			52	5077	+			1605		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.4833A>T	CCDS14543.1																																																																																				0.488	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			19	50	0	0	0	1	0	19	50				
DLX5	1749	broad.mit.edu	37	7	96651603	96651603	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:96651603G>C	ENST00000222598.4	-	2	907	c.434C>G	c.(433-435)tCc>tGc	p.S145C	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.S145C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	145					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAAAGCTGGAATAAATAGT	0.498																																						ENST00000222598.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(433-435)tCc>tGc		distal-less homeobox 5							122.0	120.0	120.0					7																	96651603		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96651603G>C		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.434C>G	7.37:g.96651603G>C	ENSP00000222598:p.Ser145Cys					DLX5_ENST00000486603.2_Missense_Mutation_p.S145C|DLX5_ENST00000493764.1_Intron	p.S145C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			2	907	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		145					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.434C>G	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591182	0.86851	.	.	ENSG00000105880	ENST00000222598	D	0.96830	-4.14	5.41	5.41	0.78517	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98679	0.9557	M	0.93854	3.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99372	1.0920	10	0.87932	D	0	-13.8499	18.9868	0.92773	0.0:0.0:1.0:0.0	.	145;145	B7Z4P3;P56178	.;DLX5_HUMAN	C	145	ENSP00000222598:S145C	ENSP00000222598:S145C	S	-	2	0	DLX5	96489539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.816000	0.96949	0.563000	0.77884	TCC		0.498	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			46	72	0	0	0	1	0	46	72				
FGF7	2252	broad.mit.edu	37	15	49776652	49776652	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:49776652C>T	ENST00000267843.4	+	4	1147	c.536C>T	c.(535-537)aCg>aTg	p.T179M	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	179					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)	p.T179M(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		GGAAAAAAAACGAAGAAAGAA	0.373																																						ENST00000267843.4																			1	Substitution - Missense(1)	p.T179M(1)	prostate(1)	kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(535-537)aCg>aTg		fibroblast growth factor 7	Palifermin(DB00039)						14.0	15.0	15.0					15																	49776652		2005	3819	5824	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776652C>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.536C>T	15.37:g.49776652C>T	ENSP00000267843:p.Thr179Met					FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR	p.T179M	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1147	+		all_lung(180;0.00391)	179					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.536C>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246975	0.59103	.	.	ENSG00000140285	ENST00000267843	D	0.83335	-1.71	5.81	5.81	0.92471	.	0.098345	0.64402	D	0.000002	D	0.90992	0.7167	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.63597	0.916	D	0.91430	0.5165	9	0.87932	D	0	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	179	P21781	FGF7_HUMAN	M	179	ENSP00000267843:T179M	ENSP00000267843:T179M	T	+	2	0	FGF7	47563944	0.998000	0.40836	0.968000	0.41197	0.995000	0.86356	3.741000	0.55090	2.730000	0.93505	0.650000	0.86243	ACG		0.373	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		6	17	0	0	0	1	0	6	17				
BNIP2	663	broad.mit.edu	37	15	59971949	59971949	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59971949C>T	ENST00000607373.1	-	4	339	c.137G>A	c.(136-138)gGa>gAa	p.G46E	BNIP2_ENST00000415213.2_Missense_Mutation_p.G108E|BNIP2_ENST00000267859.3_Missense_Mutation_p.G167E	NM_004330.2	NP_004321.2	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	46					apoptotic process (GO:0006915)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|positive regulation of GTPase activity (GO:0043547)|positive regulation of muscle cell differentiation (GO:0051149)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CACTTTATTTCCATTAACTTC	0.368																																					Ovarian(174;1936 1978 6671 8240 38212)	ENST00000267859.3																			0				NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(499-501)gGa>gAa		BCL2/adenovirus E1B 19kDa interacting protein 2							71.0	58.0	62.0					15																	59971949		2190	4290	6480	SO:0001583	missense	663				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding	g.chr15:59971949C>T	U15173	CCDS10174.2	15q21.3	2008-07-18	2002-08-29		ENSG00000140299	ENSG00000140299			1083	protein-coding gene	gene with protein product		603292	"""BCL2/adenovirus E1B 19kD-interacting protein 2"""			7954800	Standard	NM_004330		Approved	Nip2, BNIP-2	uc010uhc.2	Q12982	OTTHUMG00000132727	ENST00000607373.1:c.137G>A	15.37:g.59971949C>T	ENSP00000475320:p.Gly46Glu					BNIP2_ENST00000607373.1_Missense_Mutation_p.G46E|BNIP2_ENST00000415213.2_Missense_Mutation_p.G108E	p.G167E			Q12982	BNIP2_HUMAN			4	593	-			46			CRAL-TRIO.		B4DS94	Missense_Mutation	SNP	ENST00000607373.1	37	c.500G>A		.	.	.	.	.	.	.	.	.	.	C	14.74	2.624509	0.46840	.	.	ENSG00000140299	ENST00000267859;ENST00000415213	T;T	0.46063	0.88;0.93	5.4	4.49	0.54785	.	0.203957	0.52532	D	0.000075	T	0.52435	0.1734	M	0.74647	2.275	0.58432	D	0.999995	B;P	0.35821	0.03;0.523	B;P	0.44673	0.04;0.457	T	0.52457	-0.8573	9	.	.	.	-28.762	14.3169	0.66457	0.0:0.9285:0.0:0.0715	.	46;108	Q12982;Q12982-2	BNIP2_HUMAN;.	E	167;108	ENSP00000267859:G167E;ENSP00000412767:G108E	.	G	-	2	0	BNIP2	57759241	1.000000	0.71417	0.998000	0.56505	0.288000	0.27193	2.469000	0.45110	1.276000	0.44395	-0.143000	0.13931	GGA		0.368	BNIP2-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470740.1	NM_004330		4	25	0	0	0	1	0	4	25				
LPAL2	80350	broad.mit.edu	37	6	160888649	160888649	+	RNA	SNP	T	T	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:160888649T>C	ENST00000335388.5	-	0	1607					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGTCTGAGCATCGCGTCAGGT	0.532																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														0							g.chr6:160888649T>C	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160888649T>C								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	1607	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.532	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		27	53	0	0	0	1	0	27	53				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	37	0	0	0	1	0	26	37				
ZBBX	79740	broad.mit.edu	37	3	166960403	166960403	+	Silent	SNP	G	G	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:166960403G>T	ENST00000392766.2	-	20	2506	c.2166C>A	c.(2164-2166)acC>acA	p.T722T	ZBBX_ENST00000392767.2_Silent_p.T722T|ZBBX_ENST00000392764.1_Silent_p.T693T|ZBBX_ENST00000455345.2_Silent_p.T761T|ZBBX_ENST00000307529.5_Silent_p.T761T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	722						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACTCTTCTGAGGTTAAGCTGT	0.368																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2164-2166)acC>acA		zinc finger, B-box domain containing							88.0	85.0	86.0					3																	166960403		1817	4080	5897	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:166960403G>T	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2166C>A	3.37:g.166960403G>T						ZBBX_ENST00000392764.1_Silent_p.T693T|ZBBX_ENST00000392767.2_Silent_p.T722T|ZBBX_ENST00000307529.5_Silent_p.T761T|ZBBX_ENST00000455345.2_Silent_p.T761T	p.T722T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			20	2506	-			722					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.2166C>A	CCDS3199.2																																																																																				0.368	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		7	19	1	0	5.4927e-09	1	5.84145e-09	7	19				
HELZ	9931	broad.mit.edu	37	17	65105453	65105453	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:65105453T>C	ENST00000358691.5	-	29	4434	c.4268A>G	c.(4267-4269)tAt>tGt	p.Y1423C	HELZ_ENST00000580168.1_Missense_Mutation_p.Y1424C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1423						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCGCCTGATATGCAGGAGA	0.527																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(4267-4269)tAt>tGt		helicase with zinc finger							94.0	99.0	97.0					17																	65105453		2071	4207	6278	SO:0001583	missense	9931							g.chr17:65105453T>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.4268A>G	17.37:g.65105453T>C	ENSP00000351524:p.Tyr1423Cys					HELZ_ENST00000580168.1_Missense_Mutation_p.Y1424C	p.Y1423C	NM_014877.3	NP_055692.2					29	4434	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.4268A>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	7.198	0.592933	0.13875	.	.	ENSG00000198265	ENST00000358691	D	0.83335	-1.71	5.9	3.64	0.41730	.	0.180353	0.49916	D	0.000127	T	0.71143	0.3305	L	0.29908	0.895	0.09310	N	0.999992	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62053	-0.6935	10	0.72032	D	0.01	-4.1485	6.1283	0.20192	0.3644:0.0664:0.0:0.5692	.	1424;1423	B7ZLW2;P42694	.;HELZ_HUMAN	C	1423	ENSP00000351524:Y1423C	ENSP00000351524:Y1423C	Y	-	2	0	HELZ	62535915	0.991000	0.36638	0.176000	0.23000	0.947000	0.59692	1.041000	0.30291	0.455000	0.26910	0.448000	0.29417	TAT		0.527	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		29	46	0	0	0	1	0	29	46				
PAX4	5078	broad.mit.edu	37	7	127255046	127255046	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:127255046G>C	ENST00000341640.2	-	2	429	c.224C>G	c.(223-225)cCt>cGt	p.P75R	PAX4_ENST00000338516.3_Missense_Mutation_p.P83R|PAX4_ENST00000378740.2_Missense_Mutation_p.P75R|PAX4_ENST00000463946.1_Missense_Mutation_p.P73R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	83	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACCACAGGGGGTGTAGC	0.582																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(223-225)cCt>cGt		paired box 4							82.0	78.0	79.0					7																	127255046		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127255046G>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.224C>G	7.37:g.127255046G>C	ENSP00000339906:p.Pro75Arg					PAX4_ENST00000463946.1_Missense_Mutation_p.P73R|PAX4_ENST00000378740.2_Missense_Mutation_p.P75R|PAX4_ENST00000338516.3_Missense_Mutation_p.P83R	p.P75R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			2	429	-			83			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.224C>G	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784876	0.49997	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99287	-5.67;-5.67;-5.69	5.63	4.74	0.60224	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.609783	0.18498	N	0.139457	D	0.97349	0.9133	N	0.26042	0.785	0.24957	N	0.991754	B;P;B;B	0.42584	0.01;0.784;0.302;0.052	B;P;B;B	0.45829	0.037;0.494;0.288;0.072	D	0.93909	0.7195	10	0.66056	D	0.02	.	6.549	0.22423	0.0888:0.0:0.731:0.1802	.	75;73;83;73	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	R	75;83;83;73	ENSP00000339906:P75R;ENSP00000344297:P83R;ENSP00000451923:P73R	ENSP00000344297:P83R	P	-	2	0	PAX4	127042282	0.003000	0.15002	0.893000	0.35052	0.756000	0.42949	1.373000	0.34272	2.636000	0.89361	0.655000	0.94253	CCT		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			45	60	0	0	0	1	0	45	60				
COPG1	22820	broad.mit.edu	37	3	128986859	128986859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:128986859C>A	ENST00000314797.6	+	16	1728	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	542					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										GCAGAAGGCCCTTAATGCAGG	0.517																																						ENST00000314797.6																			0											c.(1624-1626)Ctt>Att		coatomer protein complex, subunit gamma 1							163.0	135.0	145.0					3																	128986859		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128986859C>A	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1624C>A	3.37:g.128986859C>A	ENSP00000325002:p.Leu542Ile						p.L542I	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			16	1728	+			542					A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.1624C>A	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029699	0.75504	.	.	ENSG00000181789	ENST00000314797	T	0.20598	2.06	6.17	5.3	0.74995	Armadillo-like helical (1);	0.000000	0.64402	D	0.000002	T	0.42494	0.1205	M	0.70275	2.135	0.54753	D	0.999985	P	0.52842	0.956	D	0.65010	0.931	T	0.22382	-1.0218	10	0.33940	T	0.23	-6.8479	13.1187	0.59314	0.0:0.9237:0.0:0.0763	.	542	Q9Y678	COPG_HUMAN	I	542	ENSP00000325002:L542I	ENSP00000325002:L542I	L	+	1	0	COPG	130469549	1.000000	0.71417	0.772000	0.31596	0.475000	0.33008	5.930000	0.70104	1.630000	0.50440	0.655000	0.94253	CTT		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		3	19	1	0	0.115264	1	0.115264	3	19				
GPR32	2854	broad.mit.edu	37	19	51273893	51273893	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:51273893T>A	ENST00000270590.4	+	1	173	c.36T>A	c.(34-36)agT>agA	p.S12R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	12					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGGCTGCAGTGACAGGCAAC	0.498																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(34-36)agT>agA		G protein-coupled receptor 32							58.0	49.0	52.0					19																	51273893		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51273893T>A	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.36T>A	19.37:g.51273893T>A	ENSP00000270590:p.Ser12Arg						p.S12R	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	173	+		all_neural(266;0.131)	12					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.36T>A	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357679	0.24598	.	.	ENSG00000142511	ENST00000270590	T	0.33438	1.41	1.58	0.524	0.17066	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B	0.31548	0.328	B	0.19148	0.024	T	0.17107	-1.0380	9	0.51188	T	0.08	.	3.313	0.07024	0.0:0.2407:0.0:0.7593	.	12	O75388	GPR32_HUMAN	R	12	ENSP00000270590:S12R	ENSP00000270590:S12R	S	+	3	2	GPR32	55965705	0.001000	0.12720	0.022000	0.16811	0.296000	0.27459	0.015000	0.13355	0.092000	0.17331	0.254000	0.18369	AGT		0.498	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			7	15	0	0	0	1	0	7	15				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	76	0	0	0	1	0	5	76				
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr22:39497965C>T	ENST00000401756.1	+	4	537	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_ENST00000442487.3_Missense_Mutation_p.P154L|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L|APOBEC3H_ENST00000421988.2_Intron	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	154					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537																																						ENST00000442487.3																			0				central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(460-462)cCg>cTg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H							77.0	73.0	74.0					22																	39497965		2203	4300	6503	SO:0001583	missense	164668				DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding	g.chr22:39497965C>T	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.461C>T	22.37:g.39497965C>T	ENSP00000385741:p.Pro154Leu					APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.P154L|APOBEC3H_ENST00000421988.2_Intron	p.P154L	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN			4	588	+	Melanoma(58;0.04)		154					B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	37	c.461C>T	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	10.19	1.281942	0.23392	.	.	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000401756	T;T;T	0.63580	-0.05;-0.05;-0.05	0.502	-1.0	0.10196	.	.	.	.	.	T	0.69788	0.3150	M	0.63428	1.95	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58025	-0.7709	8	0.40728	T	0.16	.	.	.	.	.	154	B7TQM3	.	L	154	ENSP00000216123:P154L;ENSP00000411754:P154L;ENSP00000385741:P154L	ENSP00000216123:P154L	P	+	2	0	APOBEC3H	37827911	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.075000	0.01374	-0.465000	0.06953	0.313000	0.20887	CCG		0.537	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773		26	9	0	0	0	1	0	26	9				
COL14A1	7373	broad.mit.edu	37	8	121290392	121290392	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr8:121290392A>T	ENST00000297848.3	+	27	3526	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.K991*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.K1086*	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGAATTTAAACTAAATGC	0.378																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3256-3258)Aaa>Taa		collagen, type XIV, alpha 1							99.0	103.0	102.0					8																	121290392		2203	4300	6503	SO:0001587	stop_gained	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121290392A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3256A>T	8.37:g.121290392A>T	ENSP00000297848:p.Lys1086*					COL14A1_ENST00000247781.3_Nonsense_Mutation_p.K991*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.K1086*	p.K1086*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		27	3526	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1086			VWFA 2.			Nonsense_Mutation	SNP	ENST00000297848.3	37	c.3256A>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	43	9.875238	0.99285	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	.	.	.	5.6	5.6	0.85130	.	0.235425	0.41001	D	0.000965	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7861	0.78304	1.0:0.0:0.0:0.0	.	.	.	.	X	1086;1086;991	.	ENSP00000247781:K991X	K	+	1	0	COL14A1	121359573	1.000000	0.71417	0.986000	0.45419	0.990000	0.78478	5.147000	0.64851	2.129000	0.65627	0.528000	0.53228	AAA		0.378	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		52	59	0	0	0	1	0	52	59				
NPAP1	23742	broad.mit.edu	37	15	24921762	24921762	+	Missense_Mutation	SNP	C	C	T	rs200510789		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:24921762C>T	ENST00000329468.2	+	1	1222	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	250					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGGATGTGCCCGGCATCTTGG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		15734	0.0		0.001	False		,,,				2504	0.0					ENST00000329468.2																			0											c.(748-750)Cgg>Tgg		nuclear pore associated protein 1							32.0	36.0	34.0					15																	24921762		2203	4299	6502	SO:0001583	missense	23742							g.chr15:24921762C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.748C>T	15.37:g.24921762C>T	ENSP00000333735:p.Arg250Trp						p.R250W	NM_018958.2	NP_061831.2					1	1222	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.748C>T	CCDS10015.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	.	7.310	0.614780	0.14129	.	.	ENSG00000185823	ENST00000329468	T	0.12255	2.7	2.07	0.0798	0.14418	.	4.420600	0.00935	N	0.002764	T	0.05731	0.0150	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.27400	-1.0075	10	0.37606	T	0.19	.	4.323	0.11027	0.0:0.6303:0.0:0.3697	.	250	Q9NZP6	CO002_HUMAN	W	250	ENSP00000333735:R250W	ENSP00000333735:R250W	R	+	1	2	C15orf2	22472855	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.211000	0.32382	0.030000	0.15379	-0.477000	0.04895	CGG		0.622	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		11	53	0	0	0	1	0	11	53				
GPRC5D	55507	broad.mit.edu	37	12	13102595	13102595	+	Missense_Mutation	SNP	C	C	T	rs370153735		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:13102595C>T	ENST00000228887.1	-	1	723	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V242I	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCAATGCAGACGACCGGGTCG	0.567																																						ENST00000228887.1																			0				kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(724-726)Gtc>Atc		G protein-coupled receptor, family C, group 5, member D		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	113.0	110.0	111.0		724	-1.2	0.5	12		111	0,8600		0,0,4300	no	missense	GPRC5D	NM_018654.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	242/346	13102595	1,13005	2203	4300	6503	SO:0001583	missense	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102595C>T	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.724G>A	12.37:g.13102595C>T	ENSP00000228887:p.Val242Ile					RP11-392P7.6_ENST00000542078.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V242I|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA	p.V242I	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	723	-		Prostate(47;0.183)	242					Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	c.724G>A	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	C	2.611	-0.290852	0.05568	2.27E-4	0.0	ENSG00000111291	ENST00000228887;ENST00000396333	D;D	0.88201	-2.35;-2.35	5.79	-1.17	0.09648	GPCR, family 3, C-terminal (1);	0.431798	0.23887	N	0.043598	T	0.58466	0.2124	N	0.00583	-1.355	0.20489	N	0.999894	B	0.11235	0.004	B	0.08055	0.003	T	0.58702	-0.7590	10	0.20046	T	0.44	-7.6619	3.0807	0.06261	0.1156:0.3723:0.1191:0.3929	.	242	Q9NZD1	GPC5D_HUMAN	I	242	ENSP00000228887:V242I;ENSP00000379624:V242I	ENSP00000228887:V242I	V	-	1	0	GPRC5D	12993862	0.168000	0.22989	0.482000	0.27366	0.189000	0.23516	-0.140000	0.10342	-0.379000	0.07906	-0.290000	0.09829	GTC		0.567	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			15	74	0	0	0	1	0	15	74				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	21	0	0	0	1	0	3	21				
SPA17	53340	broad.mit.edu	37	11	124564278	124564278	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:124564278G>A	ENST00000532692.1	+	4	1813	c.392G>A	c.(391-393)aGa>aAa	p.R131K	SPA17_ENST00000227135.2_Missense_Mutation_p.R131K|SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	131	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CACATAGCCAGAGAGGAGGCA	0.408																																						ENST00000532692.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5						c.(391-393)aGa>aAa		sperm autoantigenic protein 17							95.0	96.0	96.0					11																	124564278		2201	4299	6500	SO:0001583	missense	53340				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity	g.chr11:124564278G>A	AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.392G>A	11.37:g.124564278G>A	ENSP00000432305:p.Arg131Lys					SPA17_ENST00000524614.1_3'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R131K|SIAE_ENST00000525730.1_5'UTR	p.R131K			Q15506	SP17_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)	4	1813	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	131			IQ.		B2R4F2|Q9BXF7	Missense_Mutation	SNP	ENST00000532692.1	37	c.392G>A	CCDS8450.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372203	0.61624	.	.	ENSG00000064199	ENST00000227135;ENST00000532692	T;T	0.63913	-0.07;-0.07	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000012	T	0.81202	0.4773	M	0.87682	2.9	0.40894	D	0.984093	D	0.76494	0.999	D	0.80764	0.994	D	0.84641	0.0695	10	0.66056	D	0.02	-14.2461	14.6445	0.68751	0.0:0.0:1.0:0.0	.	131	Q15506	SP17_HUMAN	K	131	ENSP00000227135:R131K;ENSP00000432305:R131K	ENSP00000227135:R131K	R	+	2	0	SPA17	124069488	1.000000	0.71417	0.999000	0.59377	0.120000	0.20174	4.372000	0.59530	2.540000	0.85666	0.591000	0.81541	AGA		0.408	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387075.1	NM_017425		15	92	0	0	0	1	0	15	92				
DNAH10	196385	broad.mit.edu	37	12	124332564	124332564	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:124332564C>T	ENST00000409039.3	+	32	5542	c.5517C>T	c.(5515-5517)acC>acT	p.T1839T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1839	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGCAAAACCGAGACCACCA	0.552																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5515-5517)acC>acT		dynein, axonemal, heavy chain 10							100.0	106.0	104.0					12																	124332564		1983	4183	6166	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332564C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5517C>T	12.37:g.124332564C>T							p.T1839T	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5542	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1839			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5517C>T	CCDS9255.2																																																																																				0.552	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			55	34	0	0	0	1	0	55	34				
ACER1	125981	broad.mit.edu	37	19	6307219	6307219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:6307219G>A	ENST00000301452.4	-	5	648	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	191					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAAAGCAGACGGTCACTGATC	0.542																																						ENST00000301452.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						c.(571-573)Cgt>Tgt		alkaline ceramidase 1							89.0	86.0	87.0					19																	6307219		2203	4300	6503	SO:0001583	missense	125981					endoplasmic reticulum membrane|integral to membrane	ceramidase activity	g.chr19:6307219G>A	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.571C>T	19.37:g.6307219G>A	ENSP00000301452:p.Arg191Cys						p.R191C	NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN			5	648	-			191						Missense_Mutation	SNP	ENST00000301452.4	37	c.571C>T	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954520	0.73902	.	.	ENSG00000167769	ENST00000301452	T	0.49432	0.78	5.58	3.34	0.38264	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.76337	-0.2996	10	0.87932	D	0	-21.1368	12.8258	0.57718	0.0:0.0:0.7048:0.2952	.	191	Q8TDN7	ACER1_HUMAN	C	191	ENSP00000301452:R191C	ENSP00000301452:R191C	R	-	1	0	ACER1	6258219	1.000000	0.71417	0.923000	0.36655	0.707000	0.40811	3.467000	0.53078	1.347000	0.45714	0.561000	0.74099	CGT		0.542	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492		11	47	0	0	0	1	0	11	47				
RPP30	10556	broad.mit.edu	37	10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:92631801G>A	ENST00000371703.3	+	1	329	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_ENST00000413330.1_Missense_Mutation_p.G20R	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	20					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)	p.G20R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637																																						ENST00000413330.1																			1	Substitution - Missense(1)	p.G20R(1)	skin(1)	central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(58-60)Gga>Aga		ribonuclease P/MRP 30kDa subunit							100.0	104.0	103.0					10																	92631801		2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92631801G>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.58G>A	10.37:g.92631801G>A	ENSP00000360768:p.Gly20Arg					RPP30_ENST00000371703.3_Missense_Mutation_p.G20R	p.G20R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			1	93	+			20					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.58G>A	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	8.357	0.832131	0.16820	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882	T;T;T	0.52057	1.03;1.02;0.68	5.32	3.43	0.39272	Polymerase/histidinol phosphatase-like (1);	0.488240	0.23157	N	0.051300	T	0.27063	0.0663	L	0.29908	0.895	0.09310	N	1	P;P;P	0.50710	0.938;0.84;0.87	B;B;B	0.34931	0.192;0.12;0.192	T	0.24764	-1.0151	10	0.62326	D	0.03	.	5.2317	0.15426	0.1767:0.1708:0.6525:0.0	.	20;20;20	B4DJR3;P78346;E9PB02	.;RPP30_HUMAN;.	R	20	ENSP00000360768:G20R;ENSP00000389182:G20R;ENSP00000277882:G20R	ENSP00000277882:G20R	G	+	1	0	RPP30	92621781	0.037000	0.19845	0.067000	0.19924	0.066000	0.16364	0.996000	0.29719	0.779000	0.33543	0.591000	0.81541	GGA		0.637	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		66	91	0	0	0	1	0	66	91				
LILRP2	79166	broad.mit.edu	37	19	55220779	55220779	+	RNA	SNP	C	C	T	rs28394351	byFrequency	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:55220779C>T	ENST00000413439.1	+	0	808				AC098784.2_ENST00000583865.1_RNA					leukocyte immunoglobulin-like receptor pseudogene 2																		TGATGTGGGACGCGTGAGCCC	0.602													c|||	98	0.0195687	0.0696	0.0072	5008	,	,		17798	0.0		0.0	False		,,,				2504	0.001				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55220779C>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55220779C>T														0	808	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.602	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		5	8	0	0	0	1	0	5	8				
CXXC4	80319	broad.mit.edu	37	4	105412082	105412082	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:105412082C>T	ENST00000426831.1	-	1	385	c.371G>A	c.(370-372)gGg>gAg	p.G124E	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000394767.2_Missense_Mutation_p.G293E|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	124					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCCAGCTCCCCCTGAGGAGGA	0.602																																						ENST00000394767.2																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						c.(877-879)gGg>gAg		CXXC finger protein 4							64.0	71.0	68.0					4																	105412082		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412082C>T		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.371G>A	4.37:g.105412082C>T	ENSP00000412267:p.Gly124Glu					CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.G124E|AC093628.1_ENST00000606234.1_RNA	p.G293E	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	1328	-			124						Missense_Mutation	SNP	ENST00000426831.1	37	c.878G>A		.	.	.	.	.	.	.	.	.	.	C	17.73	3.460648	0.63513	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	D	0.92348	-3.02	4.84	4.84	0.62591	.	86.834400	0.05811	U	0.614044	D	0.92545	0.7632	N	0.08118	0	0.42181	D	0.991682	D	0.89917	1.0	D	0.80764	0.994	D	0.87120	0.2190	10	0.62326	D	0.03	-5.8764	16.0971	0.81132	0.0:1.0:0.0:0.0	.	124	Q9H2H0	CXXC4_HUMAN	E	124	ENSP00000378248:G124E	ENSP00000378248:G124E	G	-	2	0	CXXC4	105631531	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.232000	0.51302	2.397000	0.81536	0.585000	0.79938	GGG		0.602	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		13	60	0	0	0	1	0	13	60				
SKP2	6502	broad.mit.edu	37	5	36152899	36152899	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:36152899T>A	ENST00000274255.6	+	2	231	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	SKP2_ENST00000546211.1_5'UTR|LMBRD2_ENST00000296603.4_5'Flank|SKP2_ENST00000508514.1_Missense_Mutation_p.L12Q|RNU6-1305P_ENST00000364353.1_RNA|SKP2_ENST00000274254.5_Missense_Mutation_p.L12Q	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCCAGACCTGAGTAGCAAC	0.517																																						ENST00000274255.6																			0				breast(1)|central_nervous_system(2)|ovary(1)	4						c.(34-36)cTg>cAg		S-phase kinase-associated protein 2, E3 ubiquitin protein ligase							76.0	72.0	73.0					5																	36152899		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36152899T>A	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.35T>A	5.37:g.36152899T>A	ENSP00000274255:p.Leu12Gln					SKP2_ENST00000508514.1_Missense_Mutation_p.L12Q|SKP2_ENST00000274254.5_Missense_Mutation_p.L12Q|SKP2_ENST00000546211.1_5'UTR	p.L12Q	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	231	+	all_lung(31;5.63e-05)		12					A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.35T>A	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.492402	0.44352	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000508514;ENST00000513151	T;T;T;T	0.30448	3.09;3.12;1.55;1.53	5.88	1.67	0.24075	.	0.735571	0.13306	N	0.397823	T	0.14356	0.0347	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10590	-1.0623	10	0.25751	T	0.34	-12.3328	5.3589	0.16077	0.3472:0.3385:0.0:0.3143	.	12;12	Q13309-2;Q13309	.;SKP2_HUMAN	Q	12	ENSP00000274254:L12Q;ENSP00000274255:L12Q;ENSP00000421941:L12Q;ENSP00000423188:L12Q	ENSP00000274254:L12Q	L	+	2	0	SKP2	36188656	0.966000	0.33281	1.000000	0.80357	0.995000	0.86356	1.128000	0.31369	1.036000	0.39998	-0.347000	0.07816	CTG		0.517	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		15	43	0	0	0	1	0	15	43				
GABRA6	2559	broad.mit.edu	37	5	161118969	161118969	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:161118969G>A	ENST00000274545.5	+	8	1282	c.849G>A	c.(847-849)atG>atA	p.M283I	GABRA6_ENST00000523217.1_Missense_Mutation_p.M273I|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	283					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TTTTAACTATGACCACTTTGA	0.403										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(817-819)atG>atA		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						130.0	125.0	127.0					5																	161118969		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161118969G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.849G>A	5.37:g.161118969G>A	ENSP00000274545:p.Met283Ile	TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Missense_Mutation_p.M283I	p.M273I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1061	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	283					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.819G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810682	0.90707	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.87571	-2.27;-2.27	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.074325	0.85682	D	0.000000	D	0.92694	0.7678	M	0.62266	1.93	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.93282	0.6661	10	0.87932	D	0	.	18.9984	0.92822	0.0:0.0:1.0:0.0	.	283	Q16445	GBRA6_HUMAN	I	283;273	ENSP00000274545:M283I;ENSP00000430527:M273I	ENSP00000274545:M283I	M	+	3	0	GABRA6	161051547	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.751000	0.98889	2.468000	0.83385	0.650000	0.86243	ATG		0.403	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			10	74	0	0	0	1	0	10	74				
BICD2	23299	broad.mit.edu	37	9	95481306	95481306	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:95481306C>T	ENST00000375512.3	-	5	1688	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	BICD2_ENST00000356884.6_Missense_Mutation_p.V541M	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	541					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATGCACACGTGGTGGTAG	0.657																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1621-1623)Gtg>Atg		bicaudal D homolog 2 (Drosophila)							111.0	88.0	96.0					9																	95481306		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95481306C>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1621G>A	9.37:g.95481306C>T	ENSP00000364662:p.Val541Met					BICD2_ENST00000375512.3_Missense_Mutation_p.V541M	p.V541M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1688	-			541					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1621G>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612259	0.87258	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.53857	0.6;0.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.70037	-0.4982	10	0.56958	D	0.05	-45.1751	17.0121	0.86409	0.0:1.0:0.0:0.0	.	541;541	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	M	541	ENSP00000349351:V541M;ENSP00000364662:V541M	ENSP00000349351:V541M	V	-	1	0	BICD2	94521127	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	5.905000	0.69893	2.707000	0.92482	0.561000	0.74099	GTG		0.657	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		18	61	0	0	0	1	0	18	61				
ATRX	546	broad.mit.edu	37	X	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:76814313G>A	ENST00000373344.5	-	29	6545	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2111	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R2111*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ATAAATAATCGTCCTCTGAAA	0.274			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R2111*(1)|p.?(1)	central_nervous_system(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6331-6333)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						39.0	38.0	39.0					X																	76814313		2196	4289	6485	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76814313G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6331C>T	X.37:g.76814313G>A	ENSP00000362441:p.Arg2111*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*|ATRX_ENST00000480283.1_5'UTR	p.R2111*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			29	6545	-			2111			Helicase C-terminal.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.6331C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	48	14.035345	0.99776	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.21	4.32	0.51571	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8668	14.1053	0.65085	0.0:0.0:0.8484:0.1516	.	.	.	.	X	2111;2073	.	ENSP00000362441:R2111X	R	-	1	2	ATRX	76700969	1.000000	0.71417	0.973000	0.42090	0.646000	0.38490	6.379000	0.73154	0.914000	0.36822	0.600000	0.82982	CGA		0.274	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		15	6	0	0	0	1	0	15	6				
ZNF595	152687	broad.mit.edu	37	4	59959	59959	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:59959A>G	ENST00000509152.2	+	3	324	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	ZNF595_ENST00000526473.2_Missense_Mutation_p.I47V|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGTTTTGTGATCTCTAACCC	0.393																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(139-141)Atc>Gtc		zinc finger protein 595							82.0	91.0	88.0					4																	59959		2170	4291	6461	SO:0001583	missense	152687							g.chr4:59959A>G	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.139A>G	4.37:g.59959A>G	ENSP00000434858:p.Ile47Val					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.I47V	p.I47V						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	3	324	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.139A>G		.	.	.	.	.	.	.	.	.	.	A	0	-2.760114	0.00084	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.00760	5.73;5.73	0.681	-0.976	0.10286	Krueppel-associated box (6);	.	.	.	.	T	0.00384	0.0012	.	.	.	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.16289	0.004;0.015	T	0.42965	-0.9420	7	0.02654	T	1	.	.	.	.	.	47;47	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	V	47	ENSP00000434858:I47V;ENSP00000437878:I47V	ENSP00000434858:I47V	I	+	1	0	ZNF595	49959	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.307000	0.08167	-0.396000	0.07703	-0.425000	0.05940	ATC		0.393	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		6	87	0	0	0	1	0	6	87				
M6PR	4074	broad.mit.edu	37	12	9094479	9094479	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9094479C>T	ENST00000000412.3	-	7	1237	c.769G>A	c.(769-771)Ggt>Agt	p.G257S		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	257					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	TCCCCCACACCACGATATGCT	0.468																																						ENST00000000412.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11						c.(769-771)Ggt>Agt		mannose-6-phosphate receptor (cation dependent)							132.0	122.0	125.0					12																	9094479		2203	4300	6503	SO:0001583	missense	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9094479C>T		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.769G>A	12.37:g.9094479C>T	ENSP00000000412:p.Gly257Ser						p.G257S	NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	7	1237	-		Hepatocellular(102;0.137)	257					A8K528|D3DUV5	Missense_Mutation	SNP	ENST00000000412.3	37	c.769G>A	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238313	0.95240	.	.	ENSG00000003056	ENST00000000412;ENST00000543704	T	0.25085	1.82	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41893	-0.9483	10	0.49607	T	0.09	-7.4479	17.8684	0.88803	0.0:1.0:0.0:0.0	.	257	P20645	MPRD_HUMAN	S	257;128	ENSP00000000412:G257S	ENSP00000000412:G257S	G	-	1	0	M6PR	8985746	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.100000	0.76989	2.767000	0.95098	0.655000	0.94253	GGT		0.468	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			53	404	0	0	0	1	0	53	404				
DBH	1621	broad.mit.edu	37	9	136501814	136501814	+	Silent	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:136501814G>A	ENST00000393056.2	+	1	333	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	107	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	GGACCGATGGGGACACTGCCT	0.617																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(319-321)ggG>ggA		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						83.0	59.0	67.0					9																	136501814		2203	4300	6503	SO:0001819	synonymous_variant	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501814G>A	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.321G>A	9.37:g.136501814G>A							p.G107G	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	333	+			107			DOMON.		Q5T381|Q96AG2	Silent	SNP	ENST00000393056.2	37	c.321G>A	CCDS6977.2																																																																																				0.617	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		5	23	0	0	0	1	0	5	23				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	46	0	0	0	1	0	3	46				
PLCH1	23007	broad.mit.edu	37	3	155198970	155198970	+	Silent	SNP	G	G	A			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:155198970G>A	ENST00000340059.7	-	23	4868	c.4869C>T	c.(4867-4869)acC>acT	p.T1623T	PLCH1_ENST00000414191.1_Silent_p.T1585T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.T1585T|PLCH1_ENST00000460012.1_Silent_p.T1585T	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1623					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACTGCAGGGGTGGGTGCTG	0.577																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(4753-4755)acC>acT		phospholipase C, eta 1							105.0	106.0	106.0					3																	155198970		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155198970G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4869C>T	3.37:g.155198970G>A						PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.T1585T|PLCH1_ENST00000340059.7_Silent_p.T1623T|PLCH1_ENST00000334686.6_Silent_p.T1585T	p.T1585T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	5112	-			1623					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.4755C>T	CCDS46939.1																																																																																				0.577	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		10	62	0	0	0	1	0	10	62				
GPR139	124274	broad.mit.edu	37	16	20043246	20043246	+	Silent	SNP	C	C	G			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:20043246C>G	ENST00000570682.1	-	2	1173	c.873G>C	c.(871-873)cgG>cgC	p.R291R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGA	0.502																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(871-873)cgG>cgC		G protein-coupled receptor 139							113.0	111.0	111.0					16																	20043246		2203	4300	6503	SO:0001819	synonymous_variant	124274					integral to membrane|plasma membrane		g.chr16:20043246C>G	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.873G>C	16.37:g.20043246C>G							p.R291R	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	1173	-			291					A8K5R9|Q86SP2|Q8TDU8	Silent	SNP	ENST00000570682.1	37	c.873G>C	CCDS32398.1																																																																																				0.502	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		21	120	0	0	0	1	0	21	120				
CCDC33	80125	broad.mit.edu	37	15	74554908	74554908	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:74554908C>T	ENST00000398814.3	+	3	744	c.313C>T	c.(313-315)Caa>Taa	p.Q105*	CCDC33_ENST00000321288.5_Nonsense_Mutation_p.Q308*	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	308										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGCAGGGCAAGAAGGTAA	0.597																																						ENST00000321288.5																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(922-924)Caa>Taa		coiled-coil domain containing 33							22.0	24.0	23.0					15																	74554908		2077	4192	6269	SO:0001587	stop_gained	80125						protein binding	g.chr15:74554908C>T	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.313C>T	15.37:g.74554908C>T	ENSP00000381795:p.Gln105*					CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q105*	p.Q308*			Q8N5R6	CCD33_HUMAN			5	922	+			308			C2.		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Nonsense_Mutation	SNP	ENST00000398814.3	37	c.922C>T	CCDS42058.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248322	0.80024	.	.	ENSG00000140481	ENST00000321288;ENST00000398814	.	.	.	4.67	2.71	0.32032	.	1.076940	0.07563	U	0.917385	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.8104	0.13340	0.2147:0.6754:0.0:0.1099	.	.	.	.	X	308;105	.	ENSP00000325012:Q308X	Q	+	1	0	CCDC33	72341961	0.008000	0.16893	0.002000	0.10522	0.155000	0.21991	0.489000	0.22387	0.912000	0.36772	0.462000	0.41574	CAA		0.597	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	NM_182791		4	12	0	0	0	1	0	4	12				
COL4A2	1284	broad.mit.edu	37	13	111147702	111147702	+	Silent	SNP	C	C	T	rs374779953		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr13:111147702C>T	ENST00000360467.5	+	40	3954	c.3648C>T	c.(3646-3648)caC>caT	p.H1216H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1216	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGACATCCACGGAGACCCAG	0.557																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3646-3648)caC>caT		collagen, type IV, alpha 2		C		0,3800		0,0,1900	80.0	83.0	82.0		3648	-2.2	0.0	13		82	1,8253		0,1,4126	no	coding-synonymous	COL4A2	NM_001846.2		0,1,6026	TT,TC,CC		0.0121,0.0,0.0083		1216/1713	111147702	1,12053	1900	4127	6027	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111147702C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3648C>T	13.37:g.111147702C>T							p.H1216H	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		40	3954	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1216			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.3648C>T	CCDS41907.1																																																																																				0.557	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		11	96	0	0	0	1	0	11	96				
ROS1	6098	broad.mit.edu	37	6	117746774	117746774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:117746774delT	ENST00000368508.3	-	1	244	c.46delA	c.(46-48)actfs	p.T16fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.T16fs	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	16					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGCCAAGAGTTGCAAAATTG	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(46-48)ctfs		c-ros oncogene 1 , receptor tyrosine kinase							117.0	115.0	116.0					6																	117746774		2203	4300	6503	SO:0001589	frameshift_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117746774delT	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.46delA	6.37:g.117746774delT	ENSP00000357494:p.Thr16fs					ROS1_ENST00000368507.3_Frame_Shift_Del_p.T16fs|GOPC_ENST00000467125.1_Intron	p.T16fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	1	244	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	16					Q15368|Q5TDB5	Frame_Shift_Del	DEL	ENST00000368508.3	37	c.46delA	CCDS5116.1																																																																																				0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			60	91						60	91	---	---	---	---
METAP2	10988	broad.mit.edu	37	12	95868076	95868078	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:95868076_95868078delAAG	ENST00000323666.5	+	1	350_352	c.121_123delAAG	c.(121-123)aagdel	p.K44del	METAP2_ENST00000551840.1_In_Frame_Del_p.K44del|METAP2_ENST00000550777.1_In_Frame_Del_p.K44del|METAP2_ENST00000261220.9_In_Frame_Del_p.K44del|METAP2_ENST00000546753.1_In_Frame_Del_p.K44del	NM_006838.3	NP_006829.1			methionyl aminopeptidase 2											endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						AAAAAGACGAAAGAAGAAGAAGA	0.557																																						ENST00000323666.5																			0				endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13						c.(121-123)del		methionyl aminopeptidase 2	L-Methionine(DB00134)																																			SO:0001651	inframe_deletion	10988				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr12:95868076_95868078delAAG	U13261	CCDS9052.1	12q22	2014-09-04			ENSG00000111142		3.4.11.18		16672	protein-coding gene	gene with protein product	"""Peptidase M"""	601870				7644482, 8858118	Standard	NM_006838		Approved	MNPEP, p67, MAP2	uc001tec.3	P50579	OTTHUMG00000170280	ENST00000323666.5:c.121_123delAAG	12.37:g.95868085_95868087delAAG	ENSP00000325312:p.Lys44del					METAP2_ENST00000546753.1_In_Frame_Del_p.K44del|METAP2_ENST00000261220.9_In_Frame_Del_p.K44del|METAP2_ENST00000551840.1_In_Frame_Del_p.K44del|METAP2_ENST00000550777.1_In_Frame_Del_p.K44del	p.K44del	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN			1	350_352	+			44			Arg/Lys-rich (basic).			In_Frame_Del	DEL	ENST00000323666.5	37	c.121_123delAAG	CCDS9052.1																																																																																				0.557	METAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408296.1	NM_006838		11	45						11	45	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1993-1995)gfs		SAFB-like, transcription modulator																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182564_59182565delCT	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1994_1995delAG	15.37:g.59182574_59182575delCT	ENSP00000369887:p.Glu665fs					AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs	p.E665fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2081_2082	-			665			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.1994_1995delAG	CCDS10168.2																																																																																				0.475	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		7	99						7	99	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	84036	84053	+	RNA	DEL	GGGAGCCTGGAAGCACAC	GGGAGCCTGGAAGCACAC	-	rs367849850|rs117781963|rs3743872	byFrequency	TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:84036_84053delGGGAGCCTGGAAGCACAC	ENST00000568710.1	-	0	349																											CTTGTCTCTGGGGAGCCTGGAAGCACACGGGCTGGCTA	0.633														75	0.014976	0.0015	0.0303	5008	,	,		24910	0.0		0.0467	False		,,,				2504	0.0051					ENST00000568710.1																			0																																																			0							g.chr16:84036_84053delGGGAGCCTGGAAGCACAC																													16.37:g.84036_84053delGGGAGCCTGGAAGCACAC														0	349	-									RNA	DEL	ENST00000568710.1	37																																																																																						0.633	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			4	8						4	8	---	---	---	---
