#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
MRVI1	10335	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000424001.1_Missense_Mutation_p.R313C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C|MRVI1_ENST00000547195.1_Missense_Mutation_p.R537C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1-AS1_ENST00000529979.1_RNA			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																																																0													230.0	230.0	230.0					11																	10622600		1961	4148	6109	SO:0001583	missense	10335			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		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37		.	.	.	.	.	.	.	.	.	.	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		83	157	83	157
OR5T3	390154	hgsc.bcm.edu;broad.mit.edu;ucsc.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															0													172.0	171.0	171.0					11																	56020051		2201	4295	6496	SO:0001583	missense	390154			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		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	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		57	104	57	104
TNKS1BP1	85456	hgsc.bcm.edu;broad.mit.edu;ucsc.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															0													81.0	66.0	71.0					11																	57076923		2201	4296	6497	SO:0001583	missense	85456			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		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	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	44	15	44
NUMA1	4926	hgsc.bcm.edu;broad.mit.edu;ucsc.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	NUMA1_ENST00000358965.6_Silent_p.A1007A|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	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																																		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													46.0	51.0	50.0					11																	71725528		2198	4290	6488	SO:0001819	synonymous_variant	4926			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3021G>A	11.37:g.71725528C>T				Silent	SNP	ENST00000393695.3	37	CCDS31633.1																																																																																				0.687	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			35	76	35	76
PIP4K2C	79837	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000422156.3_Intron|PIP4K2C_ENST00000550465.1_Splice_Site_p.Q153Q			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																																																0													207.0	180.0	189.0					12																	57989814		2203	4300	6503	SO:0001630	splice_region_variant	79837			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			B2RDL3|B4DM11|B4DY44|Q9H6N2	Splice_Site	SNP	ENST00000354947.5	37	CCDS8946.1																																																																																				0.478	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779	Silent	41	69	41	69
WIF1	11197	hgsc.bcm.edu;broad.mit.edu;ucsc.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)		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	0													82.0	78.0	79.0					12																	65460502		2203	4300	6503	SO:0001587	stop_gained	11197			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*		Q6UXI1|Q8WVG4	Nonsense_Mutation	SNP	ENST00000286574.4	37	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	29	6	29
SOHLH2	54937	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000554962.1_Silent_p.F273F|SOHLH2_ENST00000317764.6_Silent_p.F196F|CCDC169-SOHLH2_ENST00000511166.1_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															1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)						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			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			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	ENST00000379881.3	37	CCDS9355.1																																																																																				0.333	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		24	31	24	31
SLITRK6	84189	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																1	Substitution - Missense(1)	endometrium(1)											107.0	107.0	107.0					13																	86368978		1923	4130	6053	SO:0001583	missense	84189			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		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	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		39	62	39	62
OTOA	146183	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													93.0	84.0	87.0					16																	21702976		2199	4300	6499	SO:0001583	missense	146183			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		A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	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			16	35	16	35
MYH3	4621	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													85.0	87.0	87.0					17																	10554966		2203	4300	6503	SO:0001583	missense	4621				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		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	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		43	77	43	77
G6PC	2538	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000585489.1_Missense_Mutation_p.P144L|G6PC_ENST00000592383.1_Silent_p.A118A	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																																																0													64.0	56.0	58.0					17																	41059630		2203	4300	6503	SO:0001583	missense	2538			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		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	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		14	20	14	20
SAMD14	201191	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Missense_Mutation_p.R170H	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															0													44.0	45.0	44.0					17																	48193445		2203	4300	6503	SO:0001583	missense	201191				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		A5D8V1|Q8N2X0	Missense_Mutation	SNP	ENST00000330175.4	37	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		15	31	15	31
GPRC5C	55890	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000342648.5_Intron|GPRC5C_ENST00000481232.1_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																																																0													98.0	76.0	84.0					17																	72436710		2203	4300	6503	SO:0001819	synonymous_variant	55890			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			B5BUN4|Q2NL85|Q9NZG5	Silent	SNP	ENST00000392627.1	37	CCDS11699.1																																																																																				0.607	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			14	42	14	42
ZNF333	84449	hgsc.bcm.edu;broad.mit.edu;ucsc.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)											0													140.0	125.0	130.0					19																	14828520		2203	4300	6503	SO:0001583	missense	84449				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		Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	ENST00000292530.6	37	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		26	43	26	43
ARHGAP35	2909	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													159.0	157.0	157.0					19																	47423551		2015	4180	6195	SO:0001583	missense	2909			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		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	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		55	115	55	115
ARHGEF16	27237	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													45.0	50.0	48.0					1																	3394457		2181	4283	6464	SO:0001583	missense	27237			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		Q86TF0|Q99434	Missense_Mutation	SNP	ENST00000378378.4	37	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		22	57	22	57
ADCY10	55811	hgsc.bcm.edu;broad.mit.edu;ucsc.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	RP1-313L4.3_ENST00000451545.1_RNA|ADCY10_ENST00000367848.1_Missense_Mutation_p.I1336N|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																																																0													106.0	100.0	102.0					1																	167791265		2203	4300	6503	SO:0001583	missense	55811			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		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	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		18	36	18	36
TGM3	7053	hgsc.bcm.edu;broad.mit.edu;ucsc.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															0								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			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		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	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	70	29	70
JAM2	58494	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000400532.1_Missense_Mutation_p.K51R|JAM2_ENST00000312957.5_Missense_Mutation_p.K51R|JAM2_ENST00000425221.2_Intron	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																																																0													123.0	123.0	123.0					21																	27062196		1800	4070	5870	SO:0001583	missense	58494			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		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	ENST00000480456.1	37	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			43	77	43	77
SLC19A1	6573	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000567670.1_Silent_p.R243R|SLC19A1_ENST00000380010.4_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																																																0													33.0	39.0	37.0					21																	46951525		2197	4297	6494	SO:0001819	synonymous_variant	6573			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			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	CCDS13725.1																																																																																				0.706	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			25	38	25	38
PCNT	5116	hgsc.bcm.edu;broad.mit.edu;ucsc.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															0								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			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			O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	CCDS33592.1																																																																																				0.552	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		24	82	24	82
HGD	3081	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													153.0	136.0	141.0					3																	120360508		2203	4300	6503	SO:0001819	synonymous_variant	3081				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			A8K417|B2R8Z0	Silent	SNP	ENST00000283871.5	37	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			21	71	21	71
ENAM	10117	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																1	Substitution - Missense(1)	lung(1)											62.0	63.0	62.0					4																	71509397		2203	4300	6503	SO:0001583	missense	10117			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		Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	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	66	33	66
ADAMTS3	9508	hgsc.bcm.edu;broad.mit.edu;ucsc.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)											0													48.0	48.0	48.0					4																	73434466		2203	4300	6503	SO:0001587	stop_gained	9508			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*		A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	ENST00000286657.4	37	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			19	29	19	29
CXCL9	4283	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													209.0	197.0	201.0					4																	76927403		2203	4300	6503	SO:0001583	missense	4283			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		Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	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	100	39	100
SEC24D	9871	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																1	Substitution - Missense(1)	cervix(1)											79.0	76.0	77.0					4																	119736623		2203	4300	6503	SO:0001583	missense	9871			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		Q8IYI7	Missense_Mutation	SNP	ENST00000280551.6	37	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			22	42	22	42
CLCN3	1182	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000360642.3_Silent_p.S64S|CLCN3_ENST00000347613.4_Silent_p.S64S|CLCN3_ENST00000504131.2_Silent_p.S47S	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																																																0													129.0	122.0	124.0					4																	170601232		2203	4300	6503	SO:0001819	synonymous_variant	1182			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			B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Silent	SNP	ENST00000513761.1	37	CCDS34101.1																																																																																				0.368	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			19	46	19	46
MTRR	4552	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000440940.2_Missense_Mutation_p.G97D|MTRR_ENST00000341013.6_Missense_Mutation_p.V46M|MTRR_ENST00000502509.1_3'UTR	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																																																0													111.0	118.0	116.0					5																	7875377		2203	4300	6503	SO:0001583	missense	4552			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		O60471|Q32MA9|Q7Z4M8	Missense_Mutation	SNP	ENST00000264668.2	37	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			44	89	44	89
FYB	2533	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000505428.1_Silent_p.L204L|FYB_ENST00000540520.1_Silent_p.L214L|FYB_ENST00000512982.1_Silent_p.L204L|FYB_ENST00000515010.1_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																																																0													62.0	64.0	64.0					5																	39202453		1832	4076	5908	SO:0001819	synonymous_variant	2533			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			A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Silent	SNP	ENST00000351578.6	37	CCDS47200.1																																																																																				0.532	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		37	40	37	40
DDX4	54514	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000508580.1_3'UTR	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																																																0								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			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		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	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		23	48	23	48
PCDHA5	56143	hgsc.bcm.edu;broad.mit.edu;ucsc.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	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487T|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487T	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																																																0													68.0	73.0	71.0					5																	140202819		2203	4300	6503	SO:0001583	missense	56143			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		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	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		41	90	41	90
ASNS	440	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000444334.1_Intron|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000175506.4_Missense_Mutation_p.D12H|ASNS_ENST00000394308.3_Missense_Mutation_p.D12H	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)											0													72.0	63.0	66.0					7																	97498435		2203	4300	6503	SO:0001583	missense	440			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		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	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		17	91	17	91
ANXA1	301	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													57.0	59.0	58.0					9																	75773611		2203	4300	6503	SO:0001630	splice_region_variant	301			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				Splice_Site	SNP	ENST00000376911.1	37	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	34	8	34
GCNT1	2650	hgsc.bcm.edu;broad.mit.edu;ucsc.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_ENST00000442371.1_Silent_p.S189S|GCNT1_ENST00000536223.1_Silent_p.S189S|GCNT1_ENST00000444201.2_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																																																0													79.0	80.0	80.0					9																	79117864		2203	4300	6503	SO:0001819	synonymous_variant	2650			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			Q6DJZ4	Silent	SNP	ENST00000376730.4	37	CCDS6653.1																																																																																				0.458	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		25	61	25	61
FRMPD4	9758	hgsc.bcm.edu;broad.mit.edu;ucsc.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																																																0													171.0	156.0	161.0					X																	12736404		2203	4300	6503	SO:0001819	synonymous_variant	9758			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			A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				0.552	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		90	34	90	34
POF1B	79983	hgsc.bcm.edu;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																																																0													234.0	197.0	210.0					X																	84600916		2203	4300	6503	SO:0001583	missense	79983			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		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	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	75	6	75
CLPSL1	340204	broad.mit.edu;ucsc.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																																																0													28.0	37.0	34.0					6																	35754868		2147	4245	6392	SO:0001583	missense	340204				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		A7E2T6|B2RPE2|B5G4V2|B6ZDM9|Q5T9G1	Missense_Mutation	SNP	ENST00000373861.5	37	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	18	4	18
CRHR2	1395	broad.mit.edu;ucsc.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_ENST00000341843.4_Silent_p.R281R|CRHR2_ENST00000348438.4_Silent_p.R322R	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															0								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				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			B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Silent	SNP	ENST00000471646.1	37	CCDS5429.1																																																																																				0.552	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			39	70	39	70
TRGC2	6967	broad.mit.edu;ucsc.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																																																0													289.0	261.0	269.0					7																	38282029		1889	4119	6008			6967			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				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		46	107	46	107
EGFR	1956	broad.mit.edu;ucsc.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_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000420316.2_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)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													185.0	147.0	160.0					7																	55221711		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		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		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	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		912	248	912	248
PCDHB4	56131	broad.mit.edu;ucsc.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																																																0													61.0	68.0	66.0					5																	140503168		2203	4298	6501	SO:0001583	missense	56131			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		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	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		33	75	33	75
TNNI1	7135	broad.mit.edu;ucsc.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_ENST00000555948.1_Silent_p.L18L|TNNI1_ENST00000336092.4_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																																																0													39.0	40.0	40.0					1																	201384346		2203	4300	6503	SO:0001819	synonymous_variant	7135			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			A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Silent	SNP	ENST00000361379.4	37	CCDS1411.1																																																																																				0.582	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281		7	24	7	24
GRM4	2914	broad.mit.edu;ucsc.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_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.R687H|GRM4_ENST00000609222.1_Missense_Mutation_p.R723H|GRM4_ENST00000374181.4_Missense_Mutation_p.R856H|GRM4_ENST00000535756.1_Missense_Mutation_p.R723H|GRM4_ENST00000455714.2_Missense_Mutation_p.R716H	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																																																0								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			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		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	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			17	49	17	49
ADAM28	10863	broad.mit.edu;ucsc.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	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.D97D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Silent_p.D117D|ADAM28_ENST00000437154.2_Silent_p.D350D|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR	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)											0								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			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			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	CCDS34865.1																																																																																				0.453	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		31	62	31	62
FER1L6	654463	broad.mit.edu;ucsc.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-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R1316*	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																																																0								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			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*			Nonsense_Mutation	SNP	ENST00000522917.1	37	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	89	49	89
WASF3	10810	broad.mit.edu;ucsc.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																																																0													66.0	76.0	72.0					13																	27257045		2201	4295	6496	SO:0001583	missense	10810			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		O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	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			31	36	31	36
WDR62	284403	broad.mit.edu;hgsc.bcm.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																																																0																																										SO:0001652	inframe_insertion	284403			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		Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Ins	INS	ENST00000270301.7	37	CCDS33001.1																																																																																				0.634	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		21	78	21	78
