#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
JAM2	58494	broad.mit.edu	37	21	27062196	27062196	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:27062196A>G	ENST00000480456.1	+	3	702	c.152A>G	c.(151-153)aAa>aGa	p.K51R	JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Missense_Mutation_p.K51R|JAM2_ENST00000400532.1_Missense_Mutation_p.K51R	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	51	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTAGCCTGCAAAACCCCAAAG	0.368																																						ENST00000480456.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						c.(151-153)aAa>aGa		junctional adhesion molecule 2							123.0	123.0	123.0					21																	27062196		1800	4070	5870	SO:0001583	missense	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27062196A>G	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.152A>G	21.37:g.27062196A>G	ENSP00000420419:p.Lys51Arg					JAM2_ENST00000400532.1_Missense_Mutation_p.K51R|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000312957.5_Missense_Mutation_p.K51R	p.K51R	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN			3	702	+			51			Ig-like V-type.		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	c.152A>G	CCDS42911.1	.	.	.	.	.	.	.	.	.	.	A	13.32	2.202711	0.38905	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957	T;T;T	0.66638	-0.22;-0.22;-0.22	5.0	2.64	0.31445	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.278692	0.39615	N	0.001307	T	0.68458	0.3003	L	0.42245	1.32	0.09310	N	0.999996	D;D;D;D	0.89917	0.992;0.992;1.0;0.984	P;D;D;P	0.87578	0.905;0.935;0.998;0.903	T	0.56980	-0.7889	10	0.15066	T	0.55	.	6.4966	0.22146	0.808:0.0:0.192:0.0	.	51;51;51;51	A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;JAM2_HUMAN	R	51	ENSP00000420419:K51R;ENSP00000383376:K51R;ENSP00000318416:K51R	ENSP00000318416:K51R	K	+	2	0	JAM2	25984067	0.751000	0.28327	0.073000	0.20177	0.718000	0.41266	1.489000	0.35562	0.482000	0.27582	0.455000	0.32223	AAA		0.368	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			42	67	0	0	0	0.859065	0	42	67				
CLPSL1	340204	broad.mit.edu	37	6	35754868	35754868	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:35754868G>T	ENST00000373861.5	+	2	287	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	CLPSL1_ENST00000542261.1_Missense_Mutation_p.G64W			A2RUU4	COLL1_HUMAN	colipase-like 1	65					digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										CGCGGAGAAGGGGTCCGAGGG	0.657																																						ENST00000373861.5																			0											c.(193-195)Ggg>Tgg		colipase-like 1							28.0	37.0	34.0					6																	35754868		2147	4245	6392	SO:0001583	missense	340204				digestion|lipid catabolic process	extracellular region	enzyme activator activity	g.chr6:35754868G>T		CCDS43456.1	6p21.31	2014-01-28	2012-02-06	2012-02-06	ENSG00000204140	ENSG00000204140			21251	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 127"""	C6orf127			Standard	NM_001010886		Approved	dJ510O8.6	uc003old.4	A2RUU4	OTTHUMG00000014582	ENST00000373861.5:c.193G>T	6.37:g.35754868G>T	ENSP00000362968:p.Gly65Trp					CLPSL1_ENST00000542261.1_Missense_Mutation_p.G64W	p.G65W			A2RUU4	CF127_HUMAN			2	287	+			65					A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	c.193G>T	CCDS43456.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287861	0.23478	.	.	ENSG00000204140	ENST00000373861;ENST00000373860;ENST00000542261;ENST00000428710	T;T	0.33654	1.4;1.41	2.05	2.05	0.26809	.	0.303471	0.17547	U	0.170334	T	0.32255	0.0823	L	0.40543	1.245	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02625	-1.1132	10	0.87932	D	0	.	7.646	0.28321	0.0:0.0:1.0:0.0	.	65	A2RUU4	CF127_HUMAN	W	65;65;64;18	ENSP00000362968:G65W;ENSP00000438478:G64W	ENSP00000362967:G65W	G	+	1	0	C6orf127	35862846	0.018000	0.18449	0.028000	0.17463	0.668000	0.39293	1.004000	0.29822	1.487000	0.48415	0.460000	0.39030	GGG		0.657	CLPSL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040317.2	NM_001010886		4	16	1	0	0.014758	0.184627	0.0153483	4	16				
MYH3	4621	broad.mit.edu	37	17	10554966	10554966	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:10554966C>T	ENST00000583535.1	-	5	455	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	MYH3_ENST00000226209.7_Missense_Mutation_p.C123Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	123	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GACAGTGACACAGAAGAGGCC	0.498																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(367-369)tGt>tAt		myosin, heavy chain 3, skeletal muscle, embryonic							85.0	87.0	87.0					17																	10554966		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10554966C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.368G>A	17.37:g.10554966C>T	ENSP00000464317:p.Cys123Tyr					MYH3_ENST00000226209.7_Missense_Mutation_p.C123Y	p.C123Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			5	455	-			123			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.368G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270179	0.80469	.	.	ENSG00000109063	ENST00000226209	T	0.72167	-0.63	4.37	4.37	0.52481	Myosin head, motor domain (3);	.	.	.	.	D	0.90920	0.7146	H	0.99249	4.485	0.46279	D	0.998964	D	0.76494	0.999	D	0.81914	0.995	D	0.95046	0.8182	9	0.87932	D	0	.	17.1542	0.86785	0.0:1.0:0.0:0.0	.	123	P11055	MYH3_HUMAN	Y	123	ENSP00000226209:C123Y	ENSP00000226209:C123Y	C	-	2	0	MYH3	10495691	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.651000	0.83577	2.284000	0.76573	0.555000	0.69702	TGT		0.498	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		38	73	0	0	0	0.834066	0	38	73				
CLCN3	1182	broad.mit.edu	37	4	170601232	170601232	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:170601232C>T	ENST00000513761.1	+	3	751	c.192C>T	c.(190-192)agC>agT	p.S64S	CLCN3_ENST00000347613.4_Silent_p.S64S|CLCN3_ENST00000504131.2_Silent_p.S47S|CLCN3_ENST00000360642.3_Silent_p.S64S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	64					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATGGAGGCAGCATTAACAGTT	0.368																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(190-192)agC>agT		chloride channel, voltage-sensitive 3							129.0	122.0	124.0					4																	170601232		2203	4300	6503	SO:0001819	synonymous_variant	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170601232C>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.192C>T	4.37:g.170601232C>T						CLCN3_ENST00000360642.3_Silent_p.S64S|CLCN3_ENST00000504131.2_Silent_p.S47S|CLCN3_ENST00000347613.4_Silent_p.S64S	p.S64S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	3	751	+		Prostate(90;0.00601)|Renal(120;0.0183)	64					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	c.192C>T	CCDS34101.1																																																																																				0.368	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			17	39	0	0	0	0.557998	0	17	39				
FYB	2533	broad.mit.edu	37	5	39202453	39202453	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:39202453G>A	ENST00000351578.6	-	2	800	c.610C>T	c.(610-612)Cta>Tta	p.L204L	FYB_ENST00000515010.1_Silent_p.L204L|FYB_ENST00000540520.1_Silent_p.L214L|FYB_ENST00000505428.1_Silent_p.L204L|FYB_ENST00000512982.1_Silent_p.L204L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	204					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCGGTACTTAGGGGCGGCTTC	0.532																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(610-612)Cta>Tta		FYN binding protein							62.0	64.0	64.0					5																	39202453		1832	4076	5908	SO:0001819	synonymous_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202453G>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.610C>T	5.37:g.39202453G>A						FYB_ENST00000505428.1_Silent_p.L204L|FYB_ENST00000540520.1_Silent_p.L214L|FYB_ENST00000515010.1_Silent_p.L204L|FYB_ENST00000512982.1_Silent_p.L204L	p.L204L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	Epithelial(62;0.235)		2	800	-	all_lung(31;0.000343)		204					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	c.610C>T	CCDS47200.1																																																																																				0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		33	37	0	0	0	0.788014	0	33	37				
CXCL9	4283	broad.mit.edu	37	4	76927403	76927403	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:76927403C>T	ENST00000264888.5	-	2	127	c.89G>A	c.(88-90)cGc>cAc	p.R30H	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	30					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAGGAACAGCGACCCTTTCT	0.433																																						ENST00000264888.5																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11						c.(88-90)cGc>cAc		chemokine (C-X-C motif) ligand 9							209.0	197.0	201.0					4																	76927403		2203	4300	6503	SO:0001583	missense	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76927403C>T	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.89G>A	4.37:g.76927403C>T	ENSP00000354901:p.Arg30His						p.R30H	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	127	-			30					Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	c.89G>A	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684222	0.47991	.	.	ENSG00000138755	ENST00000264888	T	0.57752	0.38	5.18	4.34	0.51931	Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000009	T	0.69314	0.3097	M	0.73753	2.245	0.33433	D	0.581391	D	0.89917	1.0	D	0.91635	0.999	T	0.78909	-0.2018	10	0.87932	D	0	-2.5745	9.8645	0.41134	0.0:0.9051:0.0:0.0949	.	30	Q07325	CXCL9_HUMAN	H	30	ENSP00000354901:R30H	ENSP00000354901:R30H	R	-	2	0	CXCL9	77146427	0.972000	0.33761	0.942000	0.38095	0.024000	0.10985	3.462000	0.53042	1.325000	0.45301	0.462000	0.41574	CGC		0.433	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			39	94	0	0	0	0.796494	0	39	94				
DSCAM	1826	broad.mit.edu	37	21	41711192	41711192	+	Missense_Mutation	SNP	C	C	T	rs201023044		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:41711192C>T	ENST00000400454.1	-	7	1838	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	454	Ig-like C2-type 5.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGCTGATGCGGTGACTGCC	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18174	0.0		0.0	False		,,,				2504	0.0				Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(1360-1362)cGc>cAc		Down syndrome cell adhesion molecule		C	HIS/ARG	2,4192		0,2,2095	77.0	80.0	79.0		1361	4.9	1.0	21		79	0,8436		0,0,4218	no	missense	DSCAM	NM_001389.3	29	0,2,6313	TT,TC,CC		0.0,0.0477,0.0158	benign	454/2013	41711192	2,12628	2097	4218	6315	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41711192C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1361G>A	21.37:g.41711192C>T	ENSP00000383303:p.Arg454His						p.R454H	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			7	1838	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	454			Ig-like C2-type 5.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.1361G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385452	0.25031	4.77E-4	0.0	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.79653	-1.29;-0.33	5.82	4.93	0.64822	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.115667	0.64402	D	0.000012	T	0.75027	0.3794	L	0.43701	1.375	0.43729	D	0.996211	B	0.17268	0.021	B	0.15052	0.012	T	0.69285	-0.5185	10	0.30078	T	0.28	.	16.3753	0.83383	0.133:0.867:0.0:0.0	.	454	O60469	DSCAM_HUMAN	H	454;206	ENSP00000383303:R454H;ENSP00000385342:R206H	ENSP00000383303:R454H	R	-	2	0	DSCAM	40633062	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	3.665000	0.54532	1.446000	0.47643	-0.169000	0.13324	CGC		0.602	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		3	42	0	0	0	0.115264	0	3	42				
RP11-24M17.5	0	broad.mit.edu	37	15	76075437	76075437	+	RNA	SNP	G	G	A	rs62028907	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr15:76075437G>A	ENST00000395215.3	+	0	1077				RN7SL319P_ENST00000480656.2_RNA																							AAGACGCTACGGGAGCAGGGT	0.607													.|||	559	0.111621	0.0371	0.1412	5008	,	,		16943	0.0952		0.2256	False		,,,				2504	0.091					ENST00000395215.3																			0																																																			0							g.chr15:76075437G>A																													15.37:g.76075437G>A														0	1077	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	176	0	0	0	0.217242	0	5	176				
SOX7	83595	broad.mit.edu	37	8	10587872	10587872	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:10587872C>T	ENST00000304501.1	-	1	150	c.72G>A	c.(70-72)tcG>tcA	p.S24S	SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	24					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ATTGTCCATCCGACAGCTCGG	0.721																																						ENST00000304501.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(70-72)tcG>tcA		SRY (sex determining region Y)-box 7							9.0	11.0	11.0					8																	10587872		2139	4229	6368	SO:0001819	synonymous_variant	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10587872C>T	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.72G>A	8.37:g.10587872C>T						CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA	p.S24S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	1	150	-			24					B4DKV0|Q53YD0	Silent	SNP	ENST00000304501.1	37	c.72G>A	CCDS5977.1																																																																																				0.721	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1			4	12	0	0	0	0.150653	0	4	12				
OTOA	146183	broad.mit.edu	37	16	21702976	21702976	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:21702976C>G	ENST00000286149.4	+	8	708	c.707C>G	c.(706-708)aCt>aGt	p.T236S	OTOA_ENST00000388958.3_Missense_Mutation_p.T236S|OTOA_ENST00000388956.4_Missense_Mutation_p.T157S			Q7RTW8	OTOAN_HUMAN	otoancorin	236					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCTGGATGACTGGAATACTG	0.468																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(706-708)aCt>aGt		otoancorin							93.0	84.0	87.0					16																	21702976		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21702976C>G	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.707C>G	16.37:g.21702976C>G	ENSP00000286149:p.Thr236Ser					OTOA_ENST00000388956.4_Missense_Mutation_p.T157S|OTOA_ENST00000286149.4_Missense_Mutation_p.T236S	p.T236S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	8	708	+			236					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.707C>G		.	.	.	.	.	.	.	.	.	.	C	3.314	-0.140185	0.06669	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.12255	2.7;2.7;2.7	5.27	3.29	0.37713	.	0.433636	0.23610	N	0.046358	T	0.15565	0.0375	L	0.59436	1.845	0.26676	N	0.971627	B;B	0.18610	0.029;0.016	B;B	0.16289	0.015;0.015	T	0.11421	-1.0588	10	0.30078	T	0.28	-1.0947	14.1846	0.65598	0.0:0.7178:0.2822:0.0	.	157;236	B3KWU3;E9PF51	.;.	S	236;236;157	ENSP00000373610:T236S;ENSP00000286149:T236S;ENSP00000373608:T157S	ENSP00000286149:T236S	T	+	2	0	OTOA	21610477	0.074000	0.21230	0.045000	0.18777	0.014000	0.08584	0.653000	0.24902	0.588000	0.29660	-0.258000	0.10820	ACT		0.468	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			14	30	0	0	0	0.520397	0	14	30				
CRHR2	1395	broad.mit.edu	37	7	30695575	30695575	+	Silent	SNP	G	G	A	rs183811516		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:30695575G>A	ENST00000471646.1	-	9	1302	c.885C>T	c.(883-885)cgC>cgT	p.R295R	CRHR2_ENST00000506074.2_Silent_p.R295R|CRHR2_ENST00000348438.4_Silent_p.R322R|CRHR2_ENST00000341843.4_Silent_p.R281R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	295					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGGACGCGCGTAACTTTG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		18975	0.001		0.0	False		,,,				2504	0.0					ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(883-885)cgC>cgT		corticotropin releasing hormone receptor 2		G	,,,,	0,4406		0,0,2203	172.0	159.0	164.0		966,843,882,885,885	-0.6	0.4	7		164	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CRHR2	NM_001202475.1,NM_001202481.1,NM_001202482.1,NM_001202483.1,NM_001883.4	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	322/439,281/398,294/411,295/388,295/412	30695575	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695575G>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.885C>T	7.37:g.30695575G>A						CRHR2_ENST00000348438.4_Silent_p.R322R|CRHR2_ENST00000506074.2_Silent_p.R295R|CRHR2_ENST00000341843.4_Silent_p.R281R	p.R295R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			9	1302	-			295					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	c.885C>T	CCDS5429.1																																																																																				0.552	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			36	65	0	0	0	0.827153	0	36	65				
PCNT	5116	broad.mit.edu	37	21	47845846	47845846	+	Silent	SNP	C	C	T	rs138588682	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:47845846C>T	ENST00000359568.5	+	33	7388	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2427					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGGAAGACGAGATACAGG	0.552													C|||	7	0.00139776	0.0	0.0101	5008	,	,		15331	0.0		0.0	False		,,,				2504	0.0					ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7279-7281)gaC>gaT		pericentrin		C		1,4405	2.1+/-5.4	0,1,2202	92.0	89.0	90.0		7281	-0.1	0.0	21	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous	PCNT	NM_006031.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2427/3337	47845846	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47845846C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7281C>T	21.37:g.47845846C>T						PCNT_ENST00000480896.1_3'UTR	p.D2427D	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			33	7388	+	Breast(49;0.112)		2427					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7281C>T	CCDS33592.1																																																																																				0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		21	63	0	0	0	0.639603	0	21	63				
ZNF333	84449	broad.mit.edu	37	19	14828520	14828520	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:14828520A>C	ENST00000292530.6	+	11	966	c.875A>C	c.(874-876)gAg>gCg	p.E292A	ZNF333_ENST00000540689.2_Missense_Mutation_p.E292A|ZNF333_ENST00000536363.1_Missense_Mutation_p.E183A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ACTTTTACAGAGATCCTGTCC	0.418																																					NSCLC(60;75 1281 16985 25154 29885)	ENST00000292530.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						c.(874-876)gAg>gCg		zinc finger protein 333							140.0	125.0	130.0					19																	14828520		2203	4300	6503	SO:0001583	missense	84449				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:14828520A>C		CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.875A>C	19.37:g.14828520A>C	ENSP00000292530:p.Glu292Ala					ZNF333_ENST00000536363.1_Missense_Mutation_p.E183A|ZNF333_ENST00000540689.2_Missense_Mutation_p.E292A	p.E292A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN			11	966	+			292					Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	c.875A>C	CCDS12316.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192656	0.21954	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.08193	3.12;5.64;3.17	3.07	-4.0	0.04057	.	.	.	.	.	T	0.05686	0.0149	L	0.46157	1.445	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.45731	-0.9241	9	0.15499	T	0.54	.	3.2798	0.06911	0.2147:0.1524:0.4833:0.1496	.	292	Q96JL9	ZN333_HUMAN	A	183;292;292	ENSP00000439749:E183A;ENSP00000438130:E292A;ENSP00000292530:E292A	ENSP00000292530:E292A	E	+	2	0	ZNF333	14689520	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.611000	0.05622	-1.187000	0.02709	0.454000	0.30748	GAG		0.418	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466496.1	NM_032433		24	37	0	0	0	0.667858	0	24	37				
SEC24D	9871	broad.mit.edu	37	4	119736623	119736623	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:119736623C>A	ENST00000280551.6	-	5	894	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_ENST00000379735.5_Missense_Mutation_p.G219V|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	219	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.G219V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557																																						ENST00000379735.5																			1	Substitution - Missense(1)	p.G219V(1)	cervix(1)	breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(655-657)gGa>gTa		SEC24 family member D							79.0	76.0	77.0					4																	119736623		2203	4300	6503	SO:0001583	missense	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119736623C>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.656G>T	4.37:g.119736623C>A	ENSP00000280551:p.Gly219Val					SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.G219V	p.G219V	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			5	927	-			219			Pro-rich.		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	c.656G>T	CCDS3710.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093159	0.56075	.	.	ENSG00000150961	ENST00000280551;ENST00000379735	T;T	0.24723	1.84;1.84	5.71	5.71	0.89125	.	0.050011	0.85682	D	0.000000	T	0.53302	0.1788	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	T	0.47636	-0.9102	10	0.30078	T	0.28	-7.2849	16.7742	0.85546	0.0:1.0:0.0:0.0	.	219;219	O94855-2;O94855	.;SC24D_HUMAN	V	219	ENSP00000280551:G219V;ENSP00000369059:G219V	ENSP00000280551:G219V	G	-	2	0	SEC24D	119956071	0.996000	0.38824	0.815000	0.32552	0.326000	0.28443	2.926000	0.48892	2.701000	0.92244	0.655000	0.94253	GGA		0.557	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			21	36	1	0	3.62473e-10	0.608945	3.82066e-10	21	36				
MTRR	4552	broad.mit.edu	37	5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:7875377G>A	ENST00000264668.2	+	4	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_ENST00000341013.6_Missense_Mutation_p.V46M|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.G97D	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	124	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|DNA methylation (GO:0006306)|folic acid metabolic process (GO:0046655)|methionine biosynthetic process (GO:0009086)|methionine metabolic process (GO:0006555)|methylation (GO:0032259)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	[methionine synthase] reductase activity (GO:0030586)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor (GO:0016723)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348																																						ENST00000264668.2																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31						c.(370-372)gGt>gAt		5-methyltetrahydrofolate-homocysteine methyltransferase reductase	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)						111.0	118.0	116.0					5																	7875377		2203	4300	6503	SO:0001583	missense	4552				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	g.chr5:7875377G>A	AF025794	CCDS3874.1, CCDS47190.1	5p15.31	2011-05-12			ENSG00000124275	ENSG00000124275	1.16.1.8		7473	protein-coding gene	gene with protein product		602568				9501215	Standard	NM_024010		Approved	cblE	uc003jed.3	Q9UBK8	OTTHUMG00000090477	ENST00000264668.2:c.371G>A	5.37:g.7875377G>A	ENSP00000264668:p.Gly124Asp					MTRR_ENST00000440940.2_Missense_Mutation_p.G97D|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000341013.6_Missense_Mutation_p.V46M	p.G124D	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN			4	401	+			124			Flavodoxin-like.		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	c.371G>A	CCDS3874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.84|17.84	3.488936|3.488936	0.64074|0.64074	.|.	.|.	ENSG00000124275|ENSG00000124275	ENST00000264668;ENST00000440940;ENST00000502550;ENST00000512217|ENST00000341013	D;D;D;D|T	0.92965|0.59502	-3.14;-3.14;-3.14;-3.14|0.26	5.46|5.46	5.46|5.46	0.80206|0.80206	Flavodoxin/nitric oxide synthase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84804|0.84804	0.5553|0.5553	H|H	0.96861|0.96861	3.895|3.895	0.27365|0.27365	N|N	0.955869|0.955869	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.81387|0.81387	-0.0956|-0.0956	10|7	0.87932|0.72032	D|D	0|0.01	-34.0986|-34.0986	19.6891|19.6891	0.95991|0.95991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124|.	Q9UBK8|.	MTRR_HUMAN|.	D|M	124;97;97;97|46	ENSP00000264668:G124D;ENSP00000402510:G97D;ENSP00000424599:G97D;ENSP00000421318:G97D|ENSP00000341918:V46M	ENSP00000264668:G124D|ENSP00000341918:V46M	G|V	+|+	2|1	0|0	MTRR|MTRR	7928377|7928377	1.000000|1.000000	0.71417|0.71417	0.795000|0.795000	0.32087|0.32087	0.062000|0.062000	0.15995|0.15995	8.304000|8.304000	0.89958|0.89958	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.348	MTRR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206931.1			43	75	0	0	0	0.853193	0	43	75				
TNKS1BP1	85456	broad.mit.edu	37	11	57076923	57076923	+	Missense_Mutation	SNP	C	C	T	rs201237928		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:57076923C>T	ENST00000532437.1	-	5	3573	c.3262G>A	c.(3262-3264)Ggt>Agt	p.G1088S	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1088S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1088	Acidic.|Gly-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAACTCACCGACCCAGCCT	0.642													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18944	0.0		0.0	False		,,,				2504	0.0					ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3262-3264)Ggt>Agt		tankyrase 1 binding protein 1, 182kDa							81.0	66.0	71.0					11																	57076923		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57076923C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3262G>A	11.37:g.57076923C>T	ENSP00000437271:p.Gly1088Ser					TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1088S	p.G1088S			Q9C0C2	TB182_HUMAN			5	3573	-		all_epithelial(135;0.21)	1088			Acidic.|Gly-rich.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3262G>A	CCDS7951.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	3.577	-0.086482	0.07097	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.28666	1.6;1.6	5.05	0.505	0.16953	.	0.395914	0.21525	N	0.073143	T	0.17323	0.0416	N	0.21097	0.63	0.09310	N	1	B	0.23490	0.086	B	0.16722	0.016	T	0.14811	-1.0459	10	0.37606	T	0.19	-3.1869	8.2502	0.31712	0.0:0.4266:0.0:0.5734	.	1088	Q9C0C2	TB182_HUMAN	S	1088	ENSP00000350990:G1088S;ENSP00000437271:G1088S	ENSP00000350990:G1088S	G	-	1	0	TNKS1BP1	56833499	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-0.013000	0.12678	-0.137000	0.11455	0.462000	0.41574	GGT		0.642	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		15	42	0	0	0	0.457914	0	15	42				
ANXA1	301	broad.mit.edu	37	9	75773611	75773611	+	Splice_Site	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:75773611C>T	ENST00000376911.1	+	2	949	c.67C>T	c.(67-69)Caa>Taa	p.Q23*	ANXA1_ENST00000257497.6_Splice_Site_p.Q23*			P04083	ANXA1_HUMAN	annexin A1	23					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TCATTCTTAGCAAACTGTGAA	0.373																																						ENST00000376911.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8						c.e2-1		annexin A1	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						57.0	59.0	58.0					9																	75773611		2203	4300	6503	SO:0001630	splice_region_variant	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75773611C>T	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.67-1C>T	9.37:g.75773611C>T						ANXA1_ENST00000257497.6_Splice_Site_p.Q23_splice	p.Q23_splice			P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	2	949	+		all_epithelial(88;2.54e-11)	23						Splice_Site	SNP	ENST00000376911.1	37	c.66_splice	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	C	39	7.728200	0.98456	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000415424;ENST00000376911	.	.	.	5.21	-1.78	0.07957	.	0.760463	0.12861	N	0.433088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.5804	0.17247	0.3433:0.4825:0.0672:0.1071	.	.	.	.	X	23;34;23;23	.	.	Q	+	1	0	ANXA1	74963431	0.990000	0.36364	0.190000	0.23270	0.037000	0.13140	0.159000	0.16442	-0.491000	0.06697	-0.262000	0.10625	CAA		0.373	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700	Nonsense_Mutation	8	29	0	0	0	0.278610	0	8	29				
TRGC2	6967	broad.mit.edu	37	7	38282029	38282029	+	RNA	SNP	C	C	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:38282029C>A	ENST00000436911.2	-	0	425							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										AAAAGCTTACCATTTGCATCT	0.408																																						ENST00000436911.2																			0																				289.0	261.0	269.0					7																	38282029		1889	4119	6008			0							g.chr7:38282029C>A	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38282029C>A														0	425	-									RNA	SNP	ENST00000436911.2	37																																																																																						0.408	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		44	103	1	0	6.68952e-21	0.864702	7.24698e-21	44	103				
ENAM	10117	broad.mit.edu	37	4	71509397	71509397	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:71509397G>T	ENST00000396073.3	+	9	2535	c.2254G>T	c.(2254-2256)Gct>Tct	p.A752S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	752					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)		p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453																																						ENST00000396073.3																			1	Substitution - Missense(1)	p.A752T(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(2254-2256)Gct>Tct		enamelin							62.0	63.0	62.0					4																	71509397		2203	4300	6503	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509397G>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2254G>T	4.37:g.71509397G>T	ENSP00000379383:p.Ala752Ser					ENAM_ENST00000472903.1_Intron	p.A752S	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2535	+			752					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.2254G>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	6.748	0.506837	0.12883	.	.	ENSG00000132464	ENST00000396073	T	0.30714	1.52	6.01	-6.31	0.02001	.	2.008630	0.02055	N	0.050351	T	0.17280	0.0415	N	0.08118	0	0.09310	N	1	B	0.33345	0.409	B	0.36186	0.219	T	0.31280	-0.9949	10	0.59425	D	0.04	0.8239	8.8622	0.35265	0.5697:0.0:0.3294:0.1009	.	752	Q9NRM1	ENAM_HUMAN	S	752	ENSP00000379383:A752S	ENSP00000379383:A752S	A	+	1	0	ENAM	71728261	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.369000	0.02578	-1.022000	0.03346	-0.137000	0.14449	GCT		0.453	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		33	64	1	0	3.67414e-24	0.760397	4.03638e-24	33	64				
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A	rs543165988		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22195	0.0		0.0	False		,,,				2504	0.0					ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(376-378)Gga>Aga		olfactory receptor, family 5, subfamily T, member 3							172.0	171.0	171.0					11																	56020051		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020051G>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.376G>A	11.37:g.56020051G>A	ENSP00000305403:p.Gly126Arg						p.G126R	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	376	+	Esophageal squamous(21;0.00448)		126					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.376G>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.452159	0.26074	.	.	ENSG00000172489	ENST00000303059	T	0.09817	2.94	4.55	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.542212	0.15279	U	0.270784	T	0.24812	0.0602	M	0.69358	2.11	0.09310	N	1	D	0.62365	0.991	P	0.58660	0.843	T	0.04216	-1.0968	10	0.87932	D	0	.	11.1733	0.48584	0.0:0.1392:0.716:0.1448	.	126	Q8NGG3	OR5T3_HUMAN	R	126	ENSP00000305403:G126R	ENSP00000305403:G126R	G	+	1	0	OR5T3	55776627	0.000000	0.05858	0.001000	0.08648	0.028000	0.11728	0.613000	0.24299	0.603000	0.29913	-0.189000	0.12847	GGA		0.363	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		52	95	0	0	0	0.870114	0	52	95				
GPRC5C	55890	broad.mit.edu	37	17	72436710	72436710	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:72436710C>T	ENST00000392627.1	+	2	2056	c.930C>T	c.(928-930)taC>taT	p.Y310Y	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.Y277Y	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	265					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGTATACTTACGGCAACAAGC	0.607																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(928-930)taC>taT		G protein-coupled receptor, family C, group 5, member C							98.0	76.0	84.0					17																	72436710		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436710C>T	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.930C>T	17.37:g.72436710C>T						GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.Y277Y	p.Y310Y	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	2056	+			265					B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000392627.1	37	c.930C>T	CCDS11699.1																																																																																				0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			11	42	0	0	0	0.435327	0	11	42				
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(754-756)cGc>cCc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						185.0	147.0	160.0					7																	55221711		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221711G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.755G>C	7.37:g.55221711G>C	ENSP00000275493:p.Arg252Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P	p.R252P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	932	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		252					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.755G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352009	0.41700	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.81	3.64	0.41730	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.164275	0.53938	D	0.000045	D	0.92714	0.7684	M	0.92649	3.33	0.53688	D	0.99997	D;D;D;D;D	0.76494	0.972;0.983;0.999;0.99;0.988	P;P;D;D;D	0.70716	0.88;0.895;0.97;0.913;0.938	D	0.91576	0.5275	10	0.51188	T	0.08	.	9.6723	0.40019	0.2017:0.0:0.7983:0.0	.	207;252;252;252;252	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	207;252;122;252;252;252;252;199;46	ENSP00000415559:R207P;ENSP00000342376:R252P;ENSP00000345973:R252P;ENSP00000413843:R252P;ENSP00000275493:R252P;ENSP00000410031:R252P;ENSP00000395243:R199P	ENSP00000275493:R252P	R	+	2	0	EGFR	55189205	1.000000	0.71417	0.608000	0.28969	0.150000	0.21749	2.318000	0.43779	0.551000	0.29008	0.467000	0.42956	CGC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		877	231	0	0	0	0.870114	0	877	231				
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					ENST00000603901.1																			0																				103.0	70.0	80.0					7																	142479940		692	1590	2282			0							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T								NR_001296.3						0	72	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		6	95	0	0	0	0.217242	0	6	95				
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:29761676C>G	ENST00000457107.1	+	0	902									major histocompatibility complex, class I, V (pseudogene)																		gagagggtttcatattcaaga	0.493																																						ENST00000457107.1																			0																																																			0							g.chr6:29761676C>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761676C>G														0	902	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.493	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		4	16	0	0	0	0.184627	0	4	16				
TRPA1	8989	broad.mit.edu	37	8	72987644	72987644	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:72987644T>C	ENST00000262209.4	-	1	208	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCGCTTCATTGACCCCACC	0.667																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1-3)Atg>Gtg		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						60.0	63.0	62.0					8																	72987644		2203	4300	6503	SO:0001582	initiator_codon_variant	8989					integral to plasma membrane		g.chr8:72987644T>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1A>G	8.37:g.72987644T>C	ENSP00000262209:p.Met1Val						p.M1V	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		1	208	-			1					A6NIN6	Translation_Start_Site	SNP	ENST00000262209.4	37	c.1A>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530260	0.45073	.	.	ENSG00000104321	ENST00000262209	T	0.39056	1.1	4.58	3.39	0.38822	.	0.155857	0.46758	D	0.000270	T	0.58177	0.2104	.	.	.	0.24198	N	0.995521	D	0.58268	0.982	D	0.67548	0.952	T	0.50092	-0.8868	9	0.87932	D	0	-15.0518	9.0238	0.36215	0.0:0.0872:0.0:0.9128	.	1	O75762	TRPA1_HUMAN	V	1	ENSP00000262209:M1V	ENSP00000262209:M1V	M	-	1	0	TRPA1	73150198	0.939000	0.31865	0.865000	0.33974	0.188000	0.23474	0.896000	0.28377	0.863000	0.35553	0.482000	0.46254	ATG		0.667	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332	Missense_Mutation	22	42	0	0	0	0.608945	0	22	42				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	43	0	0	0	0.217242	0	4	43				
EEF1A2	1917	broad.mit.edu	37	20	62127281	62127281	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:62127281C>G	ENST00000298049.7	-	2	322	c.252G>C	c.(250-252)aaG>aaC	p.K84N	EEF1A2_ENST00000217182.3_Missense_Mutation_p.K84N			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	84	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGTACTTGGTGGTCT	0.592											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(250-252)aaG>aaC		eukaryotic translation elongation factor 1 alpha 2							280.0	224.0	243.0					20																	62127281		2202	4300	6502	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62127281C>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.252G>C	20.37:g.62127281C>G	ENSP00000298049:p.Lys84Asn		OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1058	EEF1A2_ENST00000298049.7_Missense_Mutation_p.K84N	p.K84N	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	417	-	all_cancers(38;9.45e-12)		84					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.252G>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704866	0.68615	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.43688	0.94;0.94	4.01	-1.04	0.10068	Protein synthesis factor, GTP-binding (1);	0.053547	0.64402	N	0.000001	T	0.48572	0.1507	L	0.49571	1.57	0.51767	D	0.999934	B;P	0.49358	0.086;0.923	B;P	0.61132	0.076;0.884	T	0.46871	-0.9160	10	0.72032	D	0.01	-16.1936	8.7654	0.34700	0.0:0.4939:0.0:0.5061	.	60;84	Q59GP5;Q05639	.;EF1A2_HUMAN	N	84	ENSP00000298049:K84N;ENSP00000217182:K84N	ENSP00000217182:K84N	K	-	3	2	EEF1A2	61597725	0.964000	0.33143	0.998000	0.56505	0.980000	0.70556	0.069000	0.14552	-0.001000	0.14495	0.313000	0.20887	AAG		0.592	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		6	87	0	0	0	0.217242	0	6	87				
GCNT1	2650	broad.mit.edu	37	9	79117864	79117864	+	Silent	SNP	G	G	A	rs546314870		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:79117864G>A	ENST00000376730.4	+	4	1050	c.567G>A	c.(565-567)tcG>tcA	p.S189S	GCNT1_ENST00000444201.2_Silent_p.S189S|GCNT1_ENST00000442371.1_Silent_p.S189S|GCNT1_ENST00000536223.1_Silent_p.S189S	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	189	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTATGCATCGTGGAGCCGGG	0.458																																						ENST00000442371.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						c.(565-567)tcG>tcA		glucosaminyl (N-acetyl) transferase 1, core 2							79.0	80.0	80.0					9																	79117864		2203	4300	6503	SO:0001819	synonymous_variant	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117864G>A	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.567G>A	9.37:g.79117864G>A						GCNT1_ENST00000376730.4_Silent_p.S189S|GCNT1_ENST00000444201.2_Silent_p.S189S|GCNT1_ENST00000536223.1_Silent_p.S189S	p.S189S	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN			3	1506	+			189			Catalytic (By similarity).		Q6DJZ4	Silent	SNP	ENST00000376730.4	37	c.567G>A	CCDS6653.1																																																																																				0.458	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		24	54	0	0	0	0.654019	0	24	54				
PCDHB4	56131	broad.mit.edu	37	5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A	rs548587269		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140503168G>A	ENST00000194152.1	+	1	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1588-1590)Gtg>Atg									61.0	68.0	66.0					5																	140503168		2203	4298	6501	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140503168G>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1588G>A	5.37:g.140503168G>A	ENSP00000194152:p.Val530Met						p.V530M	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1588	+			530			Cadherin 5.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.1588G>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315044	0.60524	.	.	ENSG00000081818	ENST00000194152	T	0.71698	-0.59	3.97	3.97	0.46021	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.87309	0.6145	H	0.96239	3.79	0.39732	D	0.971629	D	0.89917	1.0	D	0.79108	0.992	D	0.90002	0.4115	9	0.72032	D	0.01	.	10.041	0.42158	0.0947:0.0:0.9053:0.0	.	530	Q9Y5E5	PCDB4_HUMAN	M	530	ENSP00000194152:V530M	ENSP00000194152:V530M	V	+	1	0	PCDHB4	140483352	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	4.365000	0.59486	2.237000	0.73441	0.556000	0.70494	GTG		0.672	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		32	73	0	0	0	0.769981	0	32	73				
PPP3CB	5532	broad.mit.edu	37	10	75204477	75204477	+	Intron	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr10:75204477C>G	ENST00000360663.5	-	12	1478				PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373H|PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000394828.2_Intron|PPP3CB_ENST00000342558.3_Missense_Mutation_p.D458H|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476H|PPP3CB_ENST00000544628.1_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme						axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TGCATAACATCATTACCACTT	0.493																																						ENST00000342558.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22						c.(1372-1374)Gat>Cat		protein phosphatase 3, catalytic subunit, beta isozyme							177.0	112.0	134.0					10																	75204477		2203	4300	6503	SO:0001627	intron_variant	5532							g.chr10:75204477C>G	M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1366+5G>C	10.37:g.75204477C>G						PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476H|PPP3CB_ENST00000394828.2_Intron|PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000360663.5_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373H	p.D458H			P16298	PP2BB_HUMAN			12	1478	-	Prostate(51;0.0119)		0					P16299|Q5F2F9|Q8N1F0|Q8N3W4	Missense_Mutation	SNP	ENST00000360663.5	37	c.1372G>C	CCDS7328.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.124641	0.37533	.	.	ENSG00000107758	ENST00000342558;ENST00000545874;ENST00000394822	T;T;T	0.19394	2.15;2.15;2.15	5.96	5.96	0.96718	.	.	.	.	.	T	0.32615	0.0835	.	.	.	0.31223	N	0.697228	P;P	0.43701	0.815;0.513	P;B	0.46389	0.515;0.088	T	0.08371	-1.0725	8	0.51188	T	0.08	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	476;373	P16298-2;F5H0F8	.;.	H	458;373;476	ENSP00000343147:D458H;ENSP00000439876:D373H;ENSP00000378299:D476H	ENSP00000343147:D458H	D	-	1	0	PPP3CB	74874483	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.359000	0.66074	2.832000	0.97577	0.655000	0.94253	GAT		0.493	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048669.1	NM_021132		10	7	0	0	0	0.335167	0	10	7				
FRMPD4	9758	broad.mit.edu	37	X	12736404	12736404	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:12736404C>T	ENST00000380682.1	+	16	3965	c.3459C>T	c.(3457-3459)gaC>gaT	p.D1153D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1153					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCTTAACTGACGTGACCTGTG	0.552																																						ENST00000380682.1																			0				breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						c.(3457-3459)gaC>gaT		FERM and PDZ domain containing 4							171.0	156.0	161.0					X																	12736404		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12736404C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.3459C>T	X.37:g.12736404C>T							p.D1153D	NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN			16	3965	+			1153					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.3459C>T	CCDS35201.1																																																																																				0.552	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		84	32	0	0	0	0.870114	0	84	32				
ASNS	440	broad.mit.edu	37	7	97498435	97498435	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:97498435C>G	ENST00000394309.3	-	3	505	c.34G>C	c.(34-36)Gat>Cat	p.D12H	ASNS_ENST00000422745.1_Intron|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.D12H|ASNS_ENST00000175506.4_Missense_Mutation_p.D12H|ASNS_ENST00000444334.1_Intron|ASNS_ENST00000437628.1_Intron	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	12	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GAAAGGCAATCATCACTGCCA	0.418																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	ENST00000175506.4																			0				ovary(1)	1						c.(34-36)Gat>Cat		asparagine synthetase (glutamine-hydrolyzing)	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						72.0	63.0	66.0					7																	97498435		2203	4300	6503	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97498435C>G	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.34G>C	7.37:g.97498435C>G	ENSP00000377846:p.Asp12His					ASNS_ENST00000394309.3_Missense_Mutation_p.D12H|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.D12H|ASNS_ENST00000422745.1_Intron|ASNS_ENST00000444334.1_Intron	p.D12H	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN			4	562	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		12			Glutamine amidotransferase type-2.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.34G>C	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280757	0.40294	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000394308;ENST00000442734;ENST00000437657;ENST00000448127;ENST00000451771;ENST00000414884	T;T;T;T	0.47528	0.84;0.84;0.84;0.86	4.29	4.29	0.51040	Glutamine amidotransferase, type II (1);	0.402379	0.26696	N	0.022980	T	0.37945	0.1022	L	0.31294	0.92	0.40637	D	0.981919	B	0.02656	0.0	B	0.01281	0.0	T	0.37009	-0.9724	10	0.87932	D	0	-15.8949	14.6248	0.68614	0.0:1.0:0.0:0.0	.	12	P08243	ASNS_HUMAN	H	12	ENSP00000175506:D12H;ENSP00000377846:D12H;ENSP00000377845:D12H;ENSP00000400422:D12H	ENSP00000175506:D12H	D	-	1	0	ASNS	97336371	1.000000	0.71417	0.998000	0.56505	0.861000	0.49209	4.421000	0.59848	2.120000	0.65058	0.555000	0.69702	GAT		0.418	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		15	74	0	0	0	0.539581	0	15	74				
PIP4K2C	79837	broad.mit.edu	37	12	57989814	57989814	+	Splice_Site	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:57989814G>A	ENST00000354947.5	+	4	529	c.513G>A	c.(511-513)caG>caA	p.Q171Q	PIP4K2C_ENST00000540759.2_Splice_Site_p.Q171Q|PIP4K2C_ENST00000550465.1_Splice_Site_p.Q153Q|PIP4K2C_ENST00000422156.3_Intron			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	171	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ACTATCACCAGGTCAGGCCTC	0.478																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.e4+1		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							207.0	180.0	189.0					12																	57989814		2203	4300	6503	SO:0001630	splice_region_variant	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57989814G>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.513+1G>A	12.37:g.57989814G>A						PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Splice_Site_p.Q171_splice|PIP4K2C_ENST00000550465.1_Splice_Site_p.Q153_splice	p.Q171_splice			Q8TBX8	PI42C_HUMAN			4	529	+	Melanoma(17;0.122)		171			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Splice_Site	SNP	ENST00000354947.5	37	c.513_splice	CCDS8946.1																																																																																				0.478	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	Silent	37	59	0	0	0	0.834066	0	37	59				
NLRP4	147945	broad.mit.edu	37	19	56369014	56369014	+	Intron	SNP	C	C	G			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:56369014C>G	ENST00000301295.6	+	3	702				NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.F10L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGGTTTTCTCTCCTCTTG	0.473																																						ENST00000587891.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(28-30)ttC>ttG		NLR family, pyrin domain containing 4							61.0	61.0	61.0					19																	56369014		2203	4300	6503	SO:0001627	intron_variant	147945						ATP binding	g.chr19:56369014C>G	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.281-26C>G	19.37:g.56369014C>G						NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron	p.F10L			Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	1	204	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	0			DAPIN.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.30C>G	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		16	40	0	0	0	0.539581	0	16	40				
ADAMTS3	9508	broad.mit.edu	37	4	73434466	73434466	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:73434466G>C	ENST00000286657.4	-	1	50	c.14C>G	c.(13-15)tCa>tGa	p.S5*	ADAMTS3_ENST00000505193.1_5'Flank	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	5					collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACCAAAGTGACAGGAGAAC	0.448																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(13-15)tCa>tGa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							48.0	48.0	48.0					4																	73434466		2203	4300	6503	SO:0001587	stop_gained	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73434466G>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.14C>G	4.37:g.73434466G>C	ENSP00000286657:p.Ser5*						p.S5*	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	50	-			5					A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	c.14C>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230253	0.58777	.	.	ENSG00000156140	ENST00000286657	.	.	.	4.66	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.1158	0.20126	0.101:0.0:0.716:0.183	.	.	.	.	X	5	.	ENSP00000286657:S5X	S	-	2	0	ADAMTS3	73653330	1.000000	0.71417	1.000000	0.80357	0.005000	0.04900	3.088000	0.50175	0.922000	0.37019	-0.535000	0.04281	TCA		0.448	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			14	22	0	0	0	0.539581	0	14	22				
TGM3	7053	broad.mit.edu	37	20	2321165	2321165	+	Missense_Mutation	SNP	G	G	A	rs140423684	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:2321165G>A	ENST00000381458.5	+	13	2083	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040). {ECO:0000305}.	cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602													G|||	3	0.000599042	0.0	0.0	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0031					ENST00000381458.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(2020-2022)Gac>Aac		transglutaminase 3	L-Glutamine(DB00130)	G	ASN/ASP	0,4406		0,0,2203	136.0	104.0	115.0		2020	3.7	0.8	20	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	missense	TGM3	NM_003245.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	674/694	2321165	1,13005	2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2321165G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.2020G>A	20.37:g.2321165G>A	ENSP00000370867:p.Asp674Asn						p.D674N	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN			13	2083	+			674	D -> G (in Ref. 2; BAF84040).				A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.2020G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	9.009	0.982032	0.18812	0.0	1.16E-4	ENSG00000125780	ENST00000381458	T	0.69561	-0.41	4.68	3.72	0.42706	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.285984	0.40469	N	0.001100	T	0.43634	0.1256	L	0.31804	0.96	0.35910	D	0.831	B	0.33826	0.427	B	0.25140	0.058	T	0.46331	-0.9199	10	0.07644	T	0.81	-9.9275	7.9286	0.29889	0.1159:0.0:0.8841:0.0	.	674	Q08188	TGM3_HUMAN	N	674	ENSP00000370867:D674N	ENSP00000370867:D674N	D	+	1	0	TGM3	2269165	0.922000	0.31269	0.832000	0.32986	0.989000	0.77384	1.373000	0.34272	1.152000	0.42452	0.655000	0.94253	GAC		0.602	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		29	64	0	0	0	0.706142	0	29	64				
CCDC64B	146439	broad.mit.edu	37	16	3085393	3085393	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3085393G>A	ENST00000572449.1	-	2	167	c.105C>T	c.(103-105)gaC>gaT	p.D35D	CCDC64B_ENST00000573514.1_5'Flank|RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Silent_p.D35D			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	35										breast(1)|endometrium(2)|large_intestine(1)	4						CCAGGAATGAGTCCCGCCGCT	0.692																																						ENST00000572449.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(103-105)gaC>gaT		coiled-coil domain containing 64B							10.0	13.0	12.0					16																	3085393		1868	4080	5948	SO:0001819	synonymous_variant	146439							g.chr16:3085393G>A	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.105C>T	16.37:g.3085393G>A						CCDC64B_ENST00000389347.4_Silent_p.D35D|RP11-473M20.5_ENST00000382225.3_RNA	p.D35D			A1A5D9	BICR2_HUMAN			2	167	-			35					Q658L9	Silent	SNP	ENST00000572449.1	37	c.105C>T	CCDS45393.1																																																																																				0.692	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			5	10	0	0	0	0.184627	0	5	10				
G6PC	2538	broad.mit.edu	37	17	41059630	41059630	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:41059630C>T	ENST00000253801.2	+	3	510	c.431C>T	c.(430-432)cCg>cTg	p.P144L	G6PC_ENST00000592383.1_Silent_p.A118A|G6PC_ENST00000585489.1_Missense_Mutation_p.P144L	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	144					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGATAAAGCCGACCTACAGA	0.527																																						ENST00000253801.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(430-432)cCg>cTg		glucose-6-phosphatase, catalytic subunit							64.0	56.0	58.0					17																	41059630		2203	4300	6503	SO:0001583	missense	2538				gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41059630C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.431C>T	17.37:g.41059630C>T	ENSP00000253801:p.Pro144Leu					G6PC_ENST00000585489.1_Missense_Mutation_p.P144L|G6PC_ENST00000592383.1_Silent_p.A118A	p.P144L	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	510	+		Breast(137;0.000143)	144					A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.431C>T	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254506	0.22965	.	.	ENSG00000131482	ENST00000253801	T	0.75260	-0.92	5.05	4.05	0.47172	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	1.087690	0.07095	N	0.839427	T	0.66616	0.2807	L	0.39898	1.24	0.44129	D	0.996916	B	0.11235	0.004	B	0.06405	0.002	T	0.54255	-0.8321	10	0.34782	T	0.22	.	8.5393	0.33382	0.0:0.8153:0.0:0.1847	.	144	P35575	G6PC_HUMAN	L	144	ENSP00000253801:P144L	ENSP00000253801:P144L	P	+	2	0	G6PC	38313156	.	.	0.946000	0.38457	0.270000	0.26580	.	.	1.268000	0.44264	0.555000	0.69702	CCG		0.527	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		12	19	0	0	0	0.457914	0	12	19				
CIB2	10518	broad.mit.edu	37	15	78398161	78398161	+	Silent	SNP	C	C	T	rs117153558	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr15:78398161C>T	ENST00000258930.3	-	5	790	c.462G>A	c.(460-462)gaG>gaA	p.E154E	CIB2_ENST00000539011.1_Silent_p.E111E|CIB2_ENST00000557846.1_Silent_p.E105E|CIB2_ENST00000560618.1_Silent_p.E111E	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	154	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AGTCAGCCTCCTCAATGACCT	0.592													C|||	3	0.000599042	0.0	0.0	5008	,	,		21081	0.0		0.002	False		,,,				2504	0.001					ENST00000258930.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(460-462)gaG>gaA		calcium and integrin binding family member 2		C		5,4387	9.9+/-24.2	0,5,2191	203.0	163.0	176.0		462	2.5	1.0	15	dbSNP_133	176	34,8552	23.4+/-69.3	0,34,4259	no	coding-synonymous	CIB2	NM_006383.2		0,39,6450	TT,TC,CC		0.396,0.1138,0.3005		154/188	78398161	39,12939	2196	4293	6489	SO:0001819	synonymous_variant	10518						calcium ion binding	g.chr15:78398161C>T	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.462G>A	15.37:g.78398161C>T						CIB2_ENST00000557846.1_Silent_p.E105E|CIB2_ENST00000539011.1_Silent_p.E111E|CIB2_ENST00000560618.1_Silent_p.E111E	p.E154E	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			5	790	-			154			EF-hand 3.		B4DDF0|H0YM71|Q05BT6	Silent	SNP	ENST00000258930.3	37	c.462G>A	CCDS10296.1																																																																																				0.592	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		3	59	0	0	0	0.150653	0	3	59				
TNNI1	7135	broad.mit.edu	37	1	201384346	201384346	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:201384346G>A	ENST00000361379.4	-	4	144	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TNNI1_ENST00000336092.4_Silent_p.L18L|TNNI1_ENST00000555948.1_Silent_p.L18L|TNNI1_ENST00000367312.1_Silent_p.L18L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	18	Involved in binding TNC.				muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCACCTTCAGCAAGAGTTTG	0.582																																						ENST00000361379.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(52-54)Ctg>Ttg		troponin I type 1 (skeletal, slow)							39.0	40.0	40.0					1																	201384346		2203	4300	6503	SO:0001819	synonymous_variant	7135				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding	g.chr1:201384346G>A	BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.52C>T	1.37:g.201384346G>A						TNNI1_ENST00000367312.1_Silent_p.L18L|TNNI1_ENST00000336092.4_Silent_p.L18L|TNNI1_ENST00000555948.1_Silent_p.L18L	p.L18L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN			4	144	-			18			Involved in binding TNC.		A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Silent	SNP	ENST00000361379.4	37	c.52C>T	CCDS1411.1																																																																																				0.582	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		7	23	0	0	0	0.278610	0	7	23				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	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	35	0	0	0	0.115264	0	3	35				
MRVI1	10335	broad.mit.edu	37	11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:10622600G>A	ENST00000436272.1	-	14	1879	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C	MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000547195.1_Missense_Mutation_p.R537C			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	601					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(1609-1611)Cgc>Tgc		murine retrovirus integration site 1 homolog							230.0	230.0	230.0					11																	10622600		1961	4148	6109	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10622600G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1801C>T	11.37:g.10622600G>A	ENSP00000412229:p.Arg601Cys					MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C	p.R537C	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	14	2109	-			601			Interaction with ITPR1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.1609C>T		.	.	.	.	.	.	.	.	.	.	G	24.2	4.505113	0.85282	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.60261	0.2255	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.63373	-0.6652	10	0.87932	D	0	-11.1665	19.635	0.95728	0.0:0.0:1.0:0.0	.	422;601;620;619	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	C	619;602;601;537;537;313;313;628;422;620;537	ENSP00000414598:R619C;ENSP00000412229:R601C;ENSP00000448278:R537C;ENSP00000446764:R537C;ENSP00000441971:R313C;ENSP00000401205:R313C;ENSP00000412130:R628C;ENSP00000437784:R422C;ENSP00000432436:R620C;ENSP00000432067:R537C	ENSP00000307885:R602C	R	-	1	0	MRVI1	10579176	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.502000	0.81614	2.639000	0.89480	0.557000	0.71058	CGC		0.507	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		67	133	0	0	0	0.870114	0	67	133				
PCDHA5	56143	broad.mit.edu	37	5	140202819	140202819	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140202819G>A	ENST00000529859.1	+	1	1459	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487T|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487T|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	487	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1459-1461)Gcc>Acc									68.0	73.0	71.0					5																	140202819		2203	4300	6503	SO:0001583	missense	0							g.chr5:140202819G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1459G>A	5.37:g.140202819G>A	ENSP00000436557:p.Ala487Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487T	p.A487T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1459	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1459G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.445109	0.63178	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52295	0.67;0.67;0.67	3.86	3.86	0.44501	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70753	0.3260	M	0.91090	3.175	0.24081	N	0.995947	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.80764	0.994;0.933;0.905	T	0.61466	-0.7057	9	0.87932	D	0	.	6.4404	0.21847	0.0952:0.0:0.7237:0.1811	.	487;487;487	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	487	ENSP00000433416:A487T;ENSP00000436557:A487T;ENSP00000367366:A487T	ENSP00000367366:A487T	A	+	1	0	PCDHA5	140183003	0.998000	0.40836	1.000000	0.80357	0.577000	0.36160	3.695000	0.54749	1.864000	0.54056	0.461000	0.40582	GCC		0.662	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		32	63	0	0	0	0.847076	0	32	63				
GRM4	2914	broad.mit.edu	37	6	33996019	33996019	+	Missense_Mutation	SNP	C	C	T	rs376358373		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:33996019C>T	ENST00000538487.2	-	10	3010	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GRM4_ENST00000374177.3_Missense_Mutation_p.R740H|GRM4_ENST00000455714.2_Missense_Mutation_p.R716H|GRM4_ENST00000609222.1_Missense_Mutation_p.R723H|GRM4_ENST00000544773.2_Missense_Mutation_p.R687H|GRM4_ENST00000374181.4_Missense_Mutation_p.R856H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R723H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	856					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GCTGCGCTTGCGCTTGGGCAC	0.602																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2566-2568)cGc>cAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	116.0	98.0	104.0		2567	4.2	1.0	6		104	0,8600		0,0,4300	no	missense	GRM4	NM_000841.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	856/913	33996019	2,13004	2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:33996019C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2567G>A	6.37:g.33996019C>T	ENSP00000440556:p.Arg856His					GRM4_ENST00000538487.1_Missense_Mutation_p.R856H|GRM4_ENST00000544773.1_Missense_Mutation_p.R687H|GRM4_ENST00000545715.1_Missense_Mutation_p.R548H|GRM4_ENST00000535756.1_Missense_Mutation_p.R723H|GRM4_ENST00000374177.3_Missense_Mutation_p.R740H|GRM4_ENST00000455714.2_Missense_Mutation_p.R716H	p.R856H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			9	2736	-			856					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2567G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865800	0.71949	4.54E-4	0.0	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88431	-2.38;-2.37;-2.13;-2.18;-2.21;-2.38;-2.22	4.18	4.18	0.49190	GPCR, family 3, C-terminal (1);	0.306877	0.30630	N	0.009217	D	0.87803	0.6269	M	0.71206	2.165	0.58432	D	0.999999	P;P;D;D;D	0.71674	0.902;0.902;0.998;0.989;0.959	P;P;P;P;P	0.56916	0.556;0.582;0.809;0.649;0.677	D	0.87600	0.2496	10	0.06099	T	0.92	.	16.6736	0.85273	0.0:1.0:0.0:0.0	.	809;687;716;856;723	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	856;740;548;723;687;856;716	ENSP00000363296:R856H;ENSP00000363292:R740H;ENSP00000445533:R548H;ENSP00000437925:R723H;ENSP00000437730:R687H;ENSP00000440556:R856H;ENSP00000398456:R716H	ENSP00000363292:R740H	R	-	2	0	GRM4	34103997	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.854000	0.55949	2.160000	0.67779	0.478000	0.44815	CGC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			18	48	0	0	0	0.557998	0	18	48				
NUMA1	4926	broad.mit.edu	37	11	71725528	71725528	+	Silent	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:71725528C>T	ENST00000393695.3	-	15	3352	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.A1007A|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGTCAGCCGCGCCACCTCCC	0.687			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3019-3021)gcG>gcA		nuclear mitotic apparatus protein 1							46.0	51.0	50.0					11																	71725528		2198	4290	6488	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725528C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3021G>A	11.37:g.71725528C>T						NUMA1_ENST00000358965.6_Silent_p.A1007A|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	p.A1007A	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3352	-			1007						Silent	SNP	ENST00000393695.3	37	c.3021G>A	CCDS31633.1																																																																																				0.687	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			31	71	0	0	0	0.760397	0	31	71				
FER1L6	654463	broad.mit.edu	37	8	125082819	125082819	+	Nonsense_Mutation	SNP	C	C	T	rs371608205		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:125082819C>T	ENST00000522917.1	+	30	4152	c.3946C>T	c.(3946-3948)Cga>Tga	p.R1316*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R1316*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1316						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATGGAGACCGAGTCATAGG	0.398																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3946-3948)Cga>Tga		fer-1-like 6 (C. elegans)		C	stop/ARG	0,3656		0,0,1828	153.0	145.0	147.0		3946	1.9	1.0	8		147	1,8147		0,1,4073	no	stop-gained	FER1L6	NM_001039112.2		0,1,5901	TT,TC,CC		0.0123,0.0,0.0085		1316/1858	125082819	1,11803	1828	4074	5902	SO:0001587	stop_gained	654463					integral to membrane		g.chr8:125082819C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3946C>T	8.37:g.125082819C>T	ENSP00000428280:p.Arg1316*					FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R1316*|FER1L6-AS2_ENST00000520031.1_RNA	p.R1316*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		30	4152	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1316						Nonsense_Mutation	SNP	ENST00000522917.1	37	c.3946C>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	43	10.362056	0.99391	0.0	1.23E-4	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	5.96	1.93	0.25924	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.2214	16.6769	0.85281	0.6793:0.3207:0.0:0.0	.	.	.	.	X	1316	.	ENSP00000381982:R1316X	R	+	1	2	FER1L6	125152000	0.945000	0.32115	0.989000	0.46669	0.725000	0.41563	1.289000	0.33307	0.377000	0.24735	-0.152000	0.13540	CGA		0.398	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		49	86	0	0	0	0.870114	0	49	86				
DCHS2	54798	broad.mit.edu	37	4	155287390	155287390	+	Silent	SNP	C	C	T	rs78251264	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		20691	0.0		0.001	False		,,,				2504	0.001					ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(664-666)tcG>tcA		dachsous cadherin-related 2		C	,	2,4404	4.2+/-10.8	0,2,2201	149.0	132.0	138.0		2448,666	-11.4	0.0	4	dbSNP_131	138	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	,	816/1370,222/2917	155287390	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287390C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.666G>A	4.37:g.155287390C>T						DCHS2_ENST00000339452.1_Silent_p.S816S	p.S222S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	665	-	all_hematologic(180;0.208)	Renal(120;0.0854)	222			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.666G>A	CCDS3785.1																																																																																				0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		6	46	0	0	0	0.217242	0	6	46				
ADCY10	55811	broad.mit.edu	37	1	167791265	167791265	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:167791265A>T	ENST00000367851.4	-	30	4467	c.4283T>A	c.(4282-4284)aTc>aAc	p.I1428N	ADCY10_ENST00000367848.1_Missense_Mutation_p.I1336N|RP1-313L4.3_ENST00000451545.1_RNA|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1275N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1428					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGTTACCAGATAGCTACAGA	0.353																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(4006-4008)aTc>aAc		adenylate cyclase 10 (soluble)							106.0	100.0	102.0					1																	167791265		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167791265A>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.4283T>A	1.37:g.167791265A>T	ENSP00000356825:p.Ile1428Asn					ADCY10_ENST00000367851.4_Missense_Mutation_p.I1428N|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1275N	p.I1336N			Q96PN6	ADCYA_HUMAN			30	4504	-			1428					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.4007T>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336580	0.60963	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.75477	-0.94;-0.94;-0.94	5.98	5.98	0.97165	.	0.352380	0.24580	N	0.037313	T	0.72301	0.3443	L	0.47716	1.5	0.31287	N	0.689855	D;D	0.63880	0.993;0.989	P;P	0.56700	0.804;0.642	T	0.78548	-0.2162	9	0.87932	D	0	.	12.8649	0.57934	1.0:0.0:0.0:0.0	.	1336;1428	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	N	1275;329;1428;1336	ENSP00000441992:I1275N;ENSP00000356825:I1428N;ENSP00000356822:I1336N	ENSP00000271426:I329N	I	-	2	0	ADCY10	166057889	0.998000	0.40836	0.947000	0.38551	0.313000	0.28021	4.572000	0.60886	2.293000	0.77203	0.528000	0.53228	ATC		0.353	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		14	34	0	0	0	0.520397	0	14	34				
DCHS2	54798	broad.mit.edu	37	4	155254333	155254333	+	Silent	SNP	C	C	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155254333C>A	ENST00000357232.4	-	9	1529	c.1530G>T	c.(1528-1530)ggG>ggT	p.G510G	DCHS2_ENST00000339452.1_Silent_p.G1009G|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	510	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCGTTCCGCCCACTGTCTC	0.632																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(1528-1530)ggG>ggT		dachsous cadherin-related 2							56.0	54.0	55.0					4																	155254333		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155254333C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1530G>T	4.37:g.155254333C>A						DCHS2_ENST00000339452.1_Silent_p.G1009G|DCHS2_ENST00000507542.1_5'UTR	p.G510G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	9	1529	-	all_hematologic(180;0.208)	Renal(120;0.0854)	510			Cadherin 4.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.1530G>T	CCDS3785.1																																																																																				0.632	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		3	27	1	0	0.115264	0.115264	0.118297	3	27				
SLC19A1	6573	broad.mit.edu	37	21	46951525	46951525	+	Silent	SNP	G	G	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:46951525G>T	ENST00000311124.4	-	3	879	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SLC19A1_ENST00000485649.2_Silent_p.R203R|SLC19A1_ENST00000380010.4_Silent_p.R243R|SLC19A1_ENST00000567670.1_Silent_p.R243R	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	243					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CAGGCCACCCGCAGGGCGTGT	0.706																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(727-729)Cgg>Agg		solute carrier family 19 (folate transporter), member 1							33.0	39.0	37.0					21																	46951525		2197	4297	6494	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951525G>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.727C>A	21.37:g.46951525G>T						SLC19A1_ENST00000567670.1_Silent_p.R243R|SLC19A1_ENST00000485649.2_Silent_p.R203R|SLC19A1_ENST00000380010.4_Silent_p.R243R	p.R243R	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	879	-			243					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.727C>A	CCDS13725.1																																																																																				0.706	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			22	38	1	0	3.7963e-18	0.654019	4.05633e-18	22	38				
ARHGEF16	27237	broad.mit.edu	37	1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:3394457G>A	ENST00000378378.4	+	11	1897	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	498					activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622																																						ENST00000378378.4																			0				lung(6)|ovary(1)	7						c.(1492-1494)Gcc>Acc		Rho guanine nucleotide exchange factor (GEF) 16							45.0	50.0	48.0					1																	3394457		2181	4283	6464	SO:0001583	missense	27237				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity	g.chr1:3394457G>A	D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1492G>A	1.37:g.3394457G>A	ENSP00000367629:p.Ala498Thr					ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T	p.A498T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	11	1897	+	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)	498					Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	c.1492G>A	CCDS46.2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939813	0.34189	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000413250	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.38	2.26	0.28386	Pleckstrin homology-type (1);	0.064498	0.64402	D	0.000007	T	0.67942	0.2947	M	0.70595	2.14	0.40914	D	0.984256	P;P	0.51240	0.943;0.943	P;P	0.52109	0.69;0.69	T	0.67337	-0.5696	10	0.44086	T	0.13	-22.0386	11.4753	0.50295	0.0:0.2558:0.6115:0.1327	.	202;498	B4DJM7;Q5VV41	.;ARHGG_HUMAN	T	498;210;210;202	ENSP00000367629:A498T;ENSP00000367624:A210T;ENSP00000367622:A210T;ENSP00000408887:A202T	ENSP00000367622:A210T	A	+	1	0	ARHGEF16	3384317	0.996000	0.38824	0.103000	0.21229	0.010000	0.07245	2.720000	0.47252	0.178000	0.19917	-0.312000	0.09012	GCC		0.622	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001515.1	NM_014448		20	51	0	0	0	0.624587	0	20	51				
HGD	3081	broad.mit.edu	37	3	120360508	120360508	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr3:120360508G>A	ENST00000283871.5	-	11	1266	c.807C>T	c.(805-807)caC>caT	p.H269H		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	269					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATAATTCCCGTGCCAGGCCA	0.438																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(805-807)caC>caT		homogentisate 1,2-dioxygenase							153.0	136.0	141.0					3																	120360508		2203	4300	6503	SO:0001819	synonymous_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120360508G>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.807C>T	3.37:g.120360508G>A							p.H269H	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	11	1266	-			269					A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	c.807C>T	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.279515|2.279515	0.40294|0.40294	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000475447|ENST00000494453	.|.	.|.	.|.	5.25|5.25	-8.69|-8.69	0.00855|0.00855	.|.	.|.	.|.	.|.	.|.	T|T	0.61751|0.61751	0.2372|0.2372	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.69064|0.69064	-0.5244|-0.5244	4|4	.|.	.|.	.|.	-3.6757|-3.6757	15.8048|15.8048	0.78491|0.78491	0.4911:0.0:0.5089:0.0|0.4911:0.0:0.5089:0.0	.|.	.|.	.|.	.|.	W|M	79|76	.|.	.|.	R|T	-|-	1|2	2|0	HGD|HGD	121843198|121843198	0.875000|0.875000	0.30112|0.30112	0.775000|0.775000	0.31657|0.31657	0.916000|0.916000	0.54674|0.54674	0.078000|0.078000	0.14761|0.14761	-1.558000|-1.558000	0.01690|0.01690	-1.686000|-1.686000	0.00732|0.00732	CGG|ACG		0.438	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			19	60	0	0	0	0.592651	0	19	60				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	91	0	0	0	0.184627	0	5	91				
SAMD14	201191	broad.mit.edu	37	17	48193445	48193445	+	Missense_Mutation	SNP	C	C	T	rs551801846		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:48193445C>T	ENST00000330175.4	-	5	826	c.509G>A	c.(508-510)cGt>cAt	p.R170H	SAMD14_ENST00000503131.1_Missense_Mutation_p.R170H|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ACTGGCGTCACGGCTGTCATC	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13227	0.0		0.0	False		,,,				2504	0.0					ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(508-510)cGt>cAt		sterile alpha motif domain containing 14							44.0	45.0	44.0					17																	48193445		2203	4300	6503	SO:0001583	missense	201191							g.chr17:48193445C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.509G>A	17.37:g.48193445C>T	ENSP00000329144:p.Arg170His					SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R170H	p.R170H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			5	826	-			170					A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	c.509G>A	CCDS58562.1	.	.	.	.	.	.	.	.	.	.	C	9.316	1.056877	0.19907	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	4.93	3.96	0.45880	.	0.194122	0.25291	N	0.031729	T	0.24851	0.0603	L	0.43152	1.355	0.30062	N	0.810859	P;B	0.47841	0.901;0.035	B;B	0.32762	0.152;0.016	T	0.20571	-1.0271	9	0.48119	T	0.1	-10.1348	10.7654	0.46291	0.0:0.9094:0.0:0.0906	.	170;170	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	H	170;182;170	.	ENSP00000285206:R182H	R	-	2	0	SAMD14	45548444	0.998000	0.40836	0.998000	0.56505	0.099000	0.18886	2.924000	0.48876	1.091000	0.41335	-0.671000	0.03813	CGT		0.602	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		13	28	0	0	0	0.457914	0	13	28				
SLITRK6	84189	broad.mit.edu	37	13	86368978	86368978	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:86368978C>T	ENST00000400286.2	-	2	2264	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	556	LRRCT 2.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.E556K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453																																						ENST00000400286.2																			1	Substitution - Missense(1)	p.E556K(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1666-1668)Gaa>Aaa		SLIT and NTRK-like family, member 6							107.0	107.0	107.0					13																	86368978		1923	4130	6053	SO:0001583	missense	84189					integral to membrane		g.chr13:86368978C>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1666G>A	13.37:g.86368978C>T	ENSP00000383143:p.Glu556Lys						p.E556K	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2264	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		556			LRRCT 2.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1666G>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.831942	0.16820	.	.	ENSG00000184564	ENST00000400286	T	0.02345	4.33	5.93	5.09	0.68999	Cysteine-rich flanking region, C-terminal (1);	0.157818	0.41194	U	0.000935	T	0.02304	0.0071	N	0.16266	0.395	0.45403	D	0.998387	B	0.09022	0.002	B	0.09377	0.004	T	0.50294	-0.8845	10	0.10902	T	0.67	-13.0848	13.9602	0.64175	0.0:0.9267:0.0:0.0733	.	556	Q9H5Y7	SLIK6_HUMAN	K	556	ENSP00000383143:E556K	ENSP00000383143:E556K	E	-	1	0	SLITRK6	85266979	1.000000	0.71417	0.964000	0.40570	0.252000	0.25951	4.888000	0.63164	1.513000	0.48852	0.655000	0.94253	GAA		0.453	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		37	57	0	0	0	0.827153	0	37	57				
DDX4	54514	broad.mit.edu	37	5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T	rs374972771		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:55063741C>T	ENST00000505374.1	+	7	459	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_ENST00000514278.2_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|SLC38A9_ENST00000504880.1_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	123	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333																																						ENST00000505374.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(367-369)Cgg>Tgg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4		C	TRP/ARG,,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	82.0	82.0		367,,70,367	1.3	1.0	5		82	0,8600		0,0,4300	no	missense,intron,missense,missense	DDX4	NM_001142549.1,NM_001166533.1,NM_001166534.1,NM_024415.2	101,,101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,,probably-damaging,probably-damaging	123/691,,24/576,123/725	55063741	1,13005	2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55063741C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.367C>T	5.37:g.55063741C>T	ENSP00000424838:p.Arg123Trp					DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000514278.2_Intron	p.R123W	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN			7	459	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	123			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.367C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408841	0.25378	2.27E-4	0.0	ENSG00000152670	ENST00000353507;ENST00000505374;ENST00000515709;ENST00000514679;ENST00000354991;ENST00000511491;ENST00000511853	T;T;T;T;T;T;T	0.55760	1.89;1.9;0.78;0.78;1.89;0.5;1.85	5.36	1.29	0.21616	.	0.081859	0.46758	D	0.000264	T	0.50154	0.1599	L	0.42245	1.32	0.80722	D	1	B;D;B	0.67145	0.074;0.996;0.014	B;P;B	0.56088	0.009;0.791;0.003	T	0.47381	-0.9122	10	0.56958	D	0.05	-18.9651	3.9287	0.09275	0.3536:0.4659:0.0:0.1805	.	24;123;123	E9PCD8;Q9NQI0-2;Q9NQI0	.;.;DDX4_HUMAN	W	123;123;97;123;123;123;24	ENSP00000334167:R123W;ENSP00000424838:R123W;ENSP00000424779:R97W;ENSP00000424112:R123W;ENSP00000347087:R123W;ENSP00000427522:R123W;ENSP00000423123:R24W	ENSP00000334167:R123W	R	+	1	2	DDX4	55099498	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	1.152000	0.31663	0.395000	0.25257	-0.894000	0.02916	CGG		0.333	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		17	38	0	0	0	0.624587	0	17	38				
POF1B	79983	broad.mit.edu	37	X	84600916	84600916	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:84600916G>A	ENST00000262753.4	-	6	818	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H225Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	225						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCCAATATGTGTAGAAATT	0.418																																						ENST00000262753.4																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(673-675)Cat>Tat		premature ovarian failure, 1B							234.0	197.0	210.0					X																	84600916		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84600916G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.673C>T	X.37:g.84600916G>A	ENSP00000262753:p.His225Tyr					POF1B_ENST00000373145.3_Missense_Mutation_p.H225Y	p.H225Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN			6	818	-			225					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.673C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	0.983	-0.696365	0.03279	.	.	ENSG00000124429	ENST00000262753;ENST00000373145;ENST00000276124	T;T	0.10005	2.92;2.92	3.35	-0.473	0.12112	.	0.589880	0.15552	N	0.256380	T	0.06371	0.0164	L	0.29908	0.895	0.09310	N	1	B;B	0.28128	0.201;0.201	B;B	0.22601	0.04;0.04	T	0.28522	-1.0041	10	0.56958	D	0.05	.	4.1852	0.10395	0.0:0.134:0.4578:0.4083	.	225;225	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	Y	225	ENSP00000262753:H225Y;ENSP00000362238:H225Y	ENSP00000262753:H225Y	H	-	1	0	POF1B	84487572	0.282000	0.24268	0.061000	0.19648	0.039000	0.13416	0.179000	0.16840	-0.185000	0.10550	-0.332000	0.08345	CAT		0.418	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		6	70	0	0	0	0.248553	0	6	70				
WIF1	11197	broad.mit.edu	37	12	65460502	65460502	+	Nonsense_Mutation	SNP	G	G	A	rs572530696		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:65460502G>A	ENST00000286574.4	-	6	1023	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	217	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCATACATCGTGGGGTACAA	0.428			T	HMGA2	pleomorphic salivary gland adenoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		16503	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(649-651)Cga>Tga		WNT inhibitory factor 1							82.0	78.0	79.0					12																	65460502		2203	4300	6503	SO:0001587	stop_gained	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65460502G>A	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.649C>T	12.37:g.65460502G>A	ENSP00000286574:p.Arg217*						p.R217*	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	6	1023	-			217			EGF-like 2.		Q6UXI1|Q8WVG4	Nonsense_Mutation	SNP	ENST00000286574.4	37	c.649C>T	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	37	6.135235	0.97315	.	.	ENSG00000156076	ENST00000286574	.	.	.	5.23	3.4	0.38934	.	0.319208	0.28921	N	0.013714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6447	0.56728	0.1376:0.0:0.8624:0.0	.	.	.	.	X	217	.	.	R	-	1	2	WIF1	63746769	0.971000	0.33674	0.041000	0.18516	0.013000	0.08279	3.700000	0.54786	0.859000	0.35456	0.655000	0.94253	CGA		0.428	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			6	28	0	0	0	0.217242	0	6	28				
ARHGAP35	2909	broad.mit.edu	37	19	47423551	47423551	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:47423551G>A	ENST00000404338.3	+	1	1619	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	540	FF 4.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CAAGCAGAGCGTGATGCCCTT	0.483																																						ENST00000404338.3																			0											c.(1618-1620)cGt>cAt		Rho GTPase activating protein 35							159.0	157.0	157.0					19																	47423551		2015	4180	6195	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423551G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1619G>A	19.37:g.47423551G>A	ENSP00000385720:p.Arg540His						p.R540H	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	1619	+			540					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.1619G>A	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068450	0.76301	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.55234	0.53	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.75679	0.3882	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77869	-0.2427	10	0.87932	D	0	-21.6141	18.8644	0.92285	0.0:0.0:1.0:0.0	.	540	Q9NRY4-2	.	H	540	ENSP00000385720:R540H	ENSP00000324820:R540H	R	+	2	0	ARHGAP35	52115391	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	9.869000	0.99810	2.756000	0.94617	0.561000	0.74099	CGT		0.483	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		49	100	0	0	0	0.870114	0	49	100				
TSKS	60385	broad.mit.edu	37	19	50249906	50249906	+	Silent	SNP	G	G	A			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:50249906G>A	ENST00000246801.3	-	6	895	c.813C>T	c.(811-813)aaC>aaT	p.N271N	TSKS_ENST00000358830.3_Silent_p.N71N	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	271					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCAGGCTGTTCCAGGAGA	0.731																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.(811-813)aaC>aaT		testis-specific serine kinase substrate							12.0	13.0	13.0					19																	50249906		2186	4266	6452	SO:0001819	synonymous_variant	60385						protein binding	g.chr19:50249906G>A	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.813C>T	19.37:g.50249906G>A						TSKS_ENST00000358830.3_Silent_p.N71N	p.N271N	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	6	895	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	271					Q8WXJ0	Silent	SNP	ENST00000246801.3	37	c.813C>T	CCDS12780.1																																																																																				0.731	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733		3	23	0	0	0	0.150653	0	3	23				
ADAM28	10863	broad.mit.edu	37	8	24187575	24187575	+	Silent	SNP	C	C	T	rs151133749		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:24187575C>T	ENST00000265769.4	+	11	1160	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000397649.3_Silent_p.D97D|ADAM28_ENST00000540823.1_Silent_p.D117D|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000437154.2_Silent_p.D350D|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	350	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTCATGACGACTATTCTT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19286	0.0		0.001	False		,,,				2504	0.0				NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1048-1050)gaC>gaT		ADAM metallopeptidase domain 28		C	,	1,4405	2.1+/-5.4	0,1,2202	160.0	143.0	149.0		1050,1050	4.1	0.7	8	dbSNP_134	149	22,8578	16.0+/-53.3	0,22,4278	no	coding-synonymous,coding-synonymous	ADAM28	NM_014265.4,NM_021777.3	,	0,23,6480	TT,TC,CC		0.2558,0.0227,0.1768	,	350/776,350/541	24187575	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24187575C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1050C>T	8.37:g.24187575C>T						ADAM28_ENST00000397649.3_Silent_p.D97D|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.D350D|ADAM28_ENST00000540823.1_Silent_p.D117D|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR	p.D350D	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	11	1160	+		Prostate(55;0.0959)	350			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1050C>T	CCDS34865.1																																																																																				0.453	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		31	61	0	0	0	0.729181	0	31	61				
WASF3	10810	broad.mit.edu	37	13	27257045	27257045	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:27257045C>T	ENST00000335327.5	+	9	1463	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	WASF3_ENST00000361042.4_Missense_Mutation_p.R426W	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	429					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGAGGCGAAGCGGCAAGAGCC	0.647																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1276-1278)Cgg>Tgg		WAS protein family, member 3							66.0	76.0	72.0					13																	27257045		2201	4295	6496	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27257045C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1285C>T	13.37:g.27257045C>T	ENSP00000335055:p.Arg429Trp					WASF3_ENST00000335327.5_Missense_Mutation_p.R429W	p.R426W			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1501	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	429					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1276C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301726	0.40694	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.53857	0.6;0.6	5.34	3.37	0.38596	.	0.427280	0.26567	N	0.023656	T	0.49029	0.1533	N	0.08118	0	0.42303	D	0.99218	D;D	0.76494	0.999;0.99	P;P	0.61722	0.893;0.644	T	0.60372	-0.7276	10	0.87932	D	0	-19.2978	13.7289	0.62776	0.3802:0.6198:0.0:0.0	.	426;429	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	W	426;429	ENSP00000354325:R426W;ENSP00000335055:R429W	ENSP00000335055:R429W	R	+	1	2	WASF3	26155045	1.000000	0.71417	0.818000	0.32626	0.141000	0.21300	1.686000	0.37669	1.202000	0.43218	0.491000	0.48974	CGG		0.647	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			27	34	0	0	0	0.769981	0	27	34				
SOHLH2	54937	broad.mit.edu	37	13	36764136	36764136	+	Silent	SNP	G	G	A	rs144665592		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:36764136G>A	ENST00000379881.3	-	6	676	c.588C>T	c.(586-588)ttC>ttT	p.F196F	SOHLH2_ENST00000317764.6_Silent_p.F196F|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.F273F|SOHLH2_ENST00000554962.1_Silent_p.F273F	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	196					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.F196F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGTTTTTCTCGAACTCTGACA	0.333													G|||	0	0.0	0.0	0.0	5008	,	,		15367	0.0		0.0	False		,,,				2504	0.0					ENST00000379881.3																			1	Substitution - coding silent(1)	p.F196F(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(586-588)ttC>ttT		spermatogenesis and oogenesis specific basic helix-loop-helix 2		G	,	2,4404	4.2+/-10.8	0,2,2201	112.0	113.0	112.0		819,588	-6.3	0.0	13	dbSNP_134	112	9,8591	5.7+/-21.5	0,9,4291	no	coding-synonymous,coding-synonymous	SOHLH2,CCDC169-SOHLH2	NM_001198910.1,NM_017826.2	,	0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846	,	273/503,196/426	36764136	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	54937							g.chr13:36764136G>A	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.588C>T	13.37:g.36764136G>A						SOHLH2_ENST00000317764.6_Silent_p.F196F|SOHLH2_ENST00000554962.1_Silent_p.F273F|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.F273F	p.F196F	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	6	676	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	c.588C>T	CCDS9355.1																																																																																				0.333	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		23	26	0	0	0	0.667858	0	23	26				
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309|rs121917743		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						ENST00000367195.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19						c.(43-48)ctc>ct		renin	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del					REN_ENST00000272190.8_In_Frame_Del_p.LL15del	p.LL15del			P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	88_90	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15					Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537		9	1700						9	1700	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		18	196						18	196	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36590446	36590447	+	In_Frame_Ins	INS	-	-	GAAGCC	rs139749569	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:36590446_36590447insGAAGCC	ENST00000270301.7	+	22	2666_2667	c.2666_2667insGAAGCC	c.(2665-2670)atgaag>atGAAGCCgaag	p.890_891insPK	WDR62_ENST00000401500.2_In_Frame_Ins_p.890_891insPK			O43379	WDR62_HUMAN	WD repeat domain 62	890					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTACCCCCATGAAGCCCGAGA	0.634																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2665-2667)aaa>aGAAGCCaa		WD repeat domain 62																																				SO:0001652	inframe_insertion	284403				cerebral cortex development	nucleus		g.chr19:36590446_36590447insGAAGCC	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2667_2672dupGAAGCC	19.37:g.36590447_36590452dupGAAGCC	ENSP00000270301:p.Lys890_Pro891insProLys					WDR62_ENST00000270301.7_In_Frame_Ins_p.889_889K>RSQ	p.889_889K>RSQ	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		22	2701_2702	+	Esophageal squamous(110;0.162)		889					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Ins	INS	ENST00000270301.7	37	c.2666_2667insGAAGCC	CCDS33001.1																																																																																				0.634	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		21	80						21	80	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30069292	30069292	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr22:30069292delA	ENST00000338641.4	+	12	1598	c.1157delA	c.(1156-1158)gaafs	p.E386fs	NF2_ENST00000403999.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.E357fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.E344fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.E303fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000361452.4_Frame_Shift_Del_p.E345fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000353887.4_Frame_Shift_Del_p.E303fs|NF2_ENST00000361166.4_Frame_Shift_Del_p.E386fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	386	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.L383fs*12(1)|p.M375fs*20(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTGTTGGCTGAAAAGGCCCAG	0.587			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		5	Unknown(3)|Deletion - Frameshift(2)	p.?(3)|p.L383fs*12(1)|p.M375fs*20(1)	large_intestine(1)|stomach(1)|soft_tissue(1)|central_nervous_system(1)|skin(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(1156-1158)gafs		neurofibromin 2 (merlin)							41.0	32.0	35.0					22																	30069292		2198	4297	6495	SO:0001589	frameshift_variant	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30069292delA	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1157delA	22.37:g.30069292delA	ENSP00000344666:p.Glu386fs					NF2_ENST00000361166.4_Frame_Shift_Del_p.E386fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.E303fs|NF2_ENST00000397789.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.E344fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Frame_Shift_Del_p.E303fs|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Frame_Shift_Del_p.E357fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.E345fs	p.E386fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			12	1598	+			386			Glu-rich.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Frame_Shift_Del	DEL	ENST00000338641.4	37	c.1157delA	CCDS13861.1																																																																																				0.587	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		2	4						2	4	---	---	---	---
