#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAMDC2	256691	broad.mit.edu	37	9	72724721	72724721	+	Splice_Site	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:72724721G>A	ENST00000377182.4	+	4	1122		c.e4+1		MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2						peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACTGTATTGGTAAGTGGGCT	0.368																																						ENST00000377182.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.e4+1		MAM domain containing 2							158.0	149.0	152.0					9																	72724721		2203	4300	6503	SO:0001630	splice_region_variant	256691					endoplasmic reticulum|membrane		g.chr9:72724721G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.505+1G>A	9.37:g.72724721G>A						MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA		NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN			4	1122	+								Q5VW47|Q8WX43|Q96BM4	Splice_Site	SNP	ENST00000377182.4	37		CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346833	0.41599	.	.	ENSG00000165072	ENST00000377182	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9814	0.89143	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAMDC2	71914541	1.000000	0.71417	1.000000	0.80357	0.232000	0.25224	7.774000	0.85478	2.495000	0.84180	0.491000	0.48974	.		0.368	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267	Intron	46	49	0	0	0	1	0	46	49				
TTN	7273	broad.mit.edu	37	2	179453437	179453437	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:179453437C>T	ENST00000591111.1	-	254	58316	c.58092G>A	c.(58090-58092)aaG>aaA	p.K19364K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K12065K|TTN_ENST00000460472.2_Silent_p.K11940K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K12132K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.K18437K|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.K21005K			Q8WZ42	TITIN_HUMAN	titin	19364	Fibronectin type-III 40. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTGAATGCTTTTCCTTTT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(63013-63015)aaG>aaA		titin							152.0	142.0	145.0					2																	179453437		1901	4122	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453437C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58092G>A	2.37:g.179453437C>T						TTN_ENST00000460472.2_Silent_p.K11940K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.K19364K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.K12065K|TTN_ENST00000342992.6_Silent_p.K18437K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K12132K	p.K21005K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	63239	-			19364			Fibronectin type-III 52.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.63015G>A																																																																																					0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	78	0	0	0	1	0	4	78				
ATP8B4	79895	broad.mit.edu	37	15	50223421	50223421	+	Missense_Mutation	SNP	G	G	A	rs376253325		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:50223421G>A	ENST00000284509.6	-	16	1678	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGGTCCGGGATTTAAAA	0.398																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1537-1539)Cgg>Tgg		ATPase, class I, type 8B, member 4		G	TRP/ARG	0,4392		0,0,2196	111.0	114.0	113.0		1537	5.6	1.0	15		113	1,8589	1.2+/-3.3	0,1,4294	no	missense	ATP8B4	NM_024837.2	101	0,1,6490	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	513/1193	50223421	1,12981	2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50223421G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1537C>T	15.37:g.50223421G>A	ENSP00000284509:p.Arg513Trp					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513W	p.R513W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	16	1678	-		all_lung(180;0.00183)	513					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1537C>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436481	0.83885	0.0	1.16E-4	ENSG00000104043	ENST00000284509	T	0.73047	-0.71	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.90933	0.7150	H	0.98769	4.325	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.94191	0.7441	10	0.72032	D	0.01	.	17.1302	0.86724	0.0:0.0:1.0:0.0	.	513	Q8TF62	AT8B4_HUMAN	W	513	ENSP00000284509:R513W	ENSP00000284509:R513W	R	-	1	2	ATP8B4	48010713	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.946000	0.63576	2.648000	0.89879	0.585000	0.79938	CGG		0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		17	25	0	0	0	1	0	17	25				
GUCY2C	2984	broad.mit.edu	37	12	14809526	14809526	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:14809526G>A	ENST00000261170.3	-	12	1526	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	464			R -> L (in dbSNP:rs55684775). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TTTTTCTGACGAAGTTCATAA	0.373																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1390-1392)Cgt>Tgt		guanylate cyclase 2C (heat stable enterotoxin receptor)							141.0	137.0	139.0					12																	14809526		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14809526G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1390C>T	12.37:g.14809526G>A	ENSP00000261170:p.Arg464Cys						p.R464C	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			12	1526	-			464		R -> L (in dbSNP:rs55684775).			B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.1390C>T	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585335	0.66105	.	.	ENSG00000070019	ENST00000261170	D	0.82081	-1.57	5.86	5.86	0.93980	.	0.091361	0.64402	D	0.000001	D	0.90010	0.6881	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88685	0.3205	10	0.38643	T	0.18	.	13.8848	0.63702	0.0:0.0:0.8474:0.1526	.	464	P25092	GUC2C_HUMAN	C	464	ENSP00000261170:R464C	ENSP00000261170:R464C	R	-	1	0	GUCY2C	14700793	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	3.546000	0.53656	2.776000	0.95493	0.655000	0.94253	CGT		0.373	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			25	38	0	0	0	1	0	25	38				
SLC23A2	9962	broad.mit.edu	37	20	4850643	4850643	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:4850643C>T	ENST00000379333.1	-	12	1551	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V273M|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Missense_Mutation_p.V387M	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	387					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGCGACCACGGCACTGAGC	0.602																																						ENST00000379333.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1159-1161)Gtg>Atg		solute carrier family 23 (ascorbic acid transporter), member 2							91.0	84.0	86.0					20																	4850643		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850643C>T	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1159G>A	20.37:g.4850643C>T	ENSP00000368637:p.Val387Met					SLC23A2_ENST00000338244.1_Missense_Mutation_p.V387M|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V273M	p.V387M	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			12	1551	-			387					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1159G>A	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.42|18.42	3.620398|3.620398	0.66787|0.66787	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.18338	.|2.22;2.22;2.22	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.34774|0.34774	0.0909|0.0909	L|L	0.37507|0.37507	1.11|1.11	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.997;0.994	.|D;P;P	.|0.87578	.|0.998;0.907;0.907	T|T	0.03034|0.03034	-1.1080|-1.1080	5|10	.|0.87932	.|D	.|0	-35.1397|-35.1397	18.3024|18.3024	0.90168|0.90168	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|273;387;387	.|B4DJZ1;A0MSJ5;Q9UGH3	.|.;.;S23A2_HUMAN	H|M	143|387;387;273	.|ENSP00000368637:V387M;ENSP00000344322:V387M;ENSP00000406601:V273M	.|ENSP00000344322:V387M	R|V	-|-	2|1	0|0	SLC23A2|SLC23A2	4798643|4798643	1.000000|1.000000	0.71417|0.71417	0.097000|0.097000	0.21041|0.21041	0.128000|0.128000	0.20619|0.20619	6.029000|6.029000	0.70895|0.70895	2.740000|2.740000	0.93945|0.93945	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.602	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			27	46	0	0	0	1	0	27	46				
INSC	387755	broad.mit.edu	37	11	15133995	15133995	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs201983726	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:15133995G>A	ENST00000379554.3	+	0	26				INSC_ENST00000379556.3_5'Flank|INSC_ENST00000424273.1_5'Flank	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACTTGGAGTCGCTGCAGCCAA	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14440	0.0		0.0	False		,,,				2504	0.0					ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49								inscuteable homolog (Drosophila)		G		0,3874		0,0,1937	47.0	55.0	53.0			3.1	0.0	11		53	1,8265		0,1,4132	no	utr-5	INSC	NM_001031853.3		0,1,6069	AA,AG,GG		0.0121,0.0,0.0082			15133995	1,12139	1937	4133	6070			387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15133995G>A	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.-21G>A	11.37:g.15133995G>A								NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			0	26	+								A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Translation_Start_Site	SNP	ENST00000379554.3	37		CCDS41621.1																																																																																				0.622	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		12	12	0	0	0	1	0	12	12				
TACC2	10579	broad.mit.edu	37	10	123844064	123844064	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:123844064C>T	ENST00000369005.1	+	4	2389	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.P683P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P683P|TACC2_ENST00000515273.1_Silent_p.P683P|TACC2_ENST00000515603.1_Silent_p.P683P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	683					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACTGTTCCCGAAGGAGCCA	0.582																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2047-2049)ccC>ccT		transforming, acidic coiled-coil containing protein 2							36.0	37.0	37.0					10																	123844064		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844064C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2049C>T	10.37:g.123844064C>T						TACC2_ENST00000515273.1_Silent_p.P683P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.P683P|TACC2_ENST00000515603.1_Silent_p.P683P|TACC2_ENST00000334433.3_Silent_p.P683P	p.P683P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2389	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	683					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2049C>T	CCDS7626.1																																																																																				0.582	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	2	0	0	0	1	0	4	2				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	3	26	0	0	0	1	0	3	26				
OR1N1	138883	broad.mit.edu	37	9	125289214	125289214	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:125289214C>T	ENST00000304880.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCACATAGCGGTCATACGC	0.512																																						ENST00000304880.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(358-360)cGc>cAc		olfactory receptor, family 1, subfamily N, member 1							96.0	84.0	88.0					9																	125289214		2203	4300	6503	SO:0001583	missense	138883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125289214C>T	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.359G>A	9.37:g.125289214C>T	ENSP00000306974:p.Arg120His						p.R120H	NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN			1	358	-			120					A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	37	c.359G>A	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034164	0.54896	.	.	ENSG00000171505	ENST00000304880	T	0.77489	-1.1	3.75	1.82	0.25136	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36444	U	0.002581	T	0.74183	0.3683	M	0.89414	3.03	0.31210	N	0.698784	P	0.44478	0.836	B	0.32022	0.139	T	0.77998	-0.2376	10	0.72032	D	0.01	.	9.0823	0.36558	0.0:0.8054:0.0:0.1946	.	120	Q8NGS0	OR1N1_HUMAN	H	120	ENSP00000306974:R120H	ENSP00000306974:R120H	R	-	2	0	OR1N1	124329035	0.110000	0.22057	0.991000	0.47740	0.951000	0.60555	1.411000	0.34702	0.832000	0.34804	0.545000	0.68477	CGC		0.512	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1			4	30	0	0	0	1	0	4	30				
HOXB5	3215	broad.mit.edu	37	17	46670842	46670842	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:46670842G>A	ENST00000239151.5	-	1	481	c.203C>T	c.(202-204)gCg>gTg	p.A68V	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000481995.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	68					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell differentiation (GO:0045446)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			large_intestine(1)|lung(2)	3						CTCGCCCACCGCCCCAAAGTG	0.687																																						ENST00000239151.5																			0				large_intestine(1)|lung(2)	3						c.(202-204)gCg>gTg		homeobox B5							13.0	15.0	14.0					17																	46670842		2132	4142	6274	SO:0001583	missense	3215					nucleus	sequence-specific DNA binding	g.chr17:46670842G>A		CCDS11530.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120075	ENSG00000120075		"""Homeoboxes / ANTP class : HOXL subclass"""	5116	protein-coding gene	gene with protein product		142960	"""homeo box B5"""	HOX2, HOX2A		1973146, 1358459	Standard	NM_002147		Approved		uc002inr.3	P09067	OTTHUMG00000159913	ENST00000239151.5:c.203C>T	17.37:g.46670842G>A	ENSP00000239151:p.Ala68Val					HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron	p.A68V	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN			1	481	-			68					B2RC69|P09069|Q17RP4	Missense_Mutation	SNP	ENST00000239151.5	37	c.203C>T	CCDS11530.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146186	0.57044	.	.	ENSG00000120075	ENST00000239151	D	0.92249	-3.0	5.44	5.44	0.79542	.	0.056540	0.64402	D	0.000001	D	0.87030	0.6076	L	0.49350	1.555	0.52099	D	0.999946	P	0.41102	0.738	B	0.32342	0.144	D	0.87203	0.2242	10	0.54805	T	0.06	.	10.467	0.44614	0.0:0.1439:0.7072:0.1489	.	68	P09067	HXB5_HUMAN	V	68	ENSP00000239151:A68V	ENSP00000239151:A68V	A	-	2	0	HOXB5	44025841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.973000	0.70456	2.550000	0.86006	0.555000	0.69702	GCG		0.687	HOXB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358148.2			4	14	0	0	0	1	0	4	14				
TENM2	57451	broad.mit.edu	37	5	167671581	167671581	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:167671581G>A	ENST00000518659.1	+	26	5716	c.5677G>A	c.(5677-5679)Gtg>Atg	p.V1893M	TENM2_ENST00000520394.1_Missense_Mutation_p.V1654M|TENM2_ENST00000545108.1_Missense_Mutation_p.V1892M|TENM2_ENST00000403607.2_Missense_Mutation_p.V1717M|TENM2_ENST00000519204.1_Missense_Mutation_p.V1772M	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1893					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.V1893M(1)|p.V1772M(1)|p.V1726M(1)									AGCTGTCAACGTGTCATACTT	0.597																																						ENST00000519204.1																			3	Substitution - Missense(3)	p.V1893M(1)|p.V1772M(1)|p.V1726M(1)	lung(3)								c.(5314-5316)Gtg>Atg		teneurin transmembrane protein 2							60.0	67.0	65.0					5																	167671581		2006	4178	6184	SO:0001583	missense	57451							g.chr5:167671581G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.5677G>A	5.37:g.167671581G>A	ENSP00000429430:p.Val1893Met					TENM2_ENST00000403607.2_Missense_Mutation_p.V1717M|TENM2_ENST00000518659.1_Missense_Mutation_p.V1893M|TENM2_ENST00000520394.1_Missense_Mutation_p.V1654M|TENM2_ENST00000545108.1_Missense_Mutation_p.V1892M	p.V1772M							25	5432	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5314G>A		.	.	.	.	.	.	.	.	.	.	G	19.93	3.917278	0.73098	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90676	-2.24;-2.23;-2.34;-2.68;-2.71	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.94860	0.8339	M	0.71581	2.175	0.58432	D	0.999999	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.80764	0.967;0.928;0.994	D	0.95535	0.8607	10	0.87932	D	0	.	17.8465	0.88731	0.0:0.0:1.0:0.0	.	1892;1893;1654	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	M	1893;1892;1772;1654;1717	ENSP00000429430:V1893M;ENSP00000438635:V1892M;ENSP00000428964:V1772M;ENSP00000427874:V1654M;ENSP00000384905:V1717M	ENSP00000384905:V1717M	V	+	1	0	ODZ2	167604159	1.000000	0.71417	0.975000	0.42487	0.424000	0.31475	7.965000	0.87945	2.214000	0.71695	0.561000	0.74099	GTG		0.597	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		26	33	0	0	0	1	0	26	33				
CHST4	10164	broad.mit.edu	37	16	71570880	71570880	+	Silent	SNP	C	C	T	rs139260372		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:71570880C>T	ENST00000338482.5	+	3	643	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CHST4_ENST00000572450.1_Silent_p.A100A|ZNF19_ENST00000568446.1_Intron|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Silent_p.A100A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	100					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATACGGGCCGTCTTCTTGT	0.582																																						ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(298-300)gcC>gcT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							84.0	88.0	86.0					16																	71570880		2198	4300	6498	SO:0001819	synonymous_variant	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570880C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.300C>T	16.37:g.71570880C>T						CHST4_ENST00000572450.1_Silent_p.A100A|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000539698.3_Silent_p.A100A	p.A100A			Q8NCG5	CHST4_HUMAN			3	643	+			100					Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	c.300C>T	CCDS10902.1																																																																																				0.582	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		22	35	0	0	0	1	0	22	35				
ALG5	29880	broad.mit.edu	37	13	37569684	37569684	+	Missense_Mutation	SNP	C	C	T	rs368291171		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr13:37569684C>T	ENST00000239891.3	-	2	182	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ALG5_ENST00000413537.2_Missense_Mutation_p.R39Q|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.R39Q	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	39					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTTCATGTCGATGGAGTGC	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		19698	0.001		0.0	False		,,,				2504	0.0					ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(115-117)cGa>cAa		ALG5, dolichyl-phosphate beta-glucosyltransferase		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	117.0	115.0	115.0		116,116	-12.3	0.0	13		115	0,8600		0,0,4300	no	missense,missense	ALG5	NM_013338.4,NM_001142364.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	39/325,39/295	37569684	1,13005	2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37569684C>T	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.116G>A	13.37:g.37569684C>T	ENSP00000239891:p.Arg39Gln					ALG5_ENST00000443765.1_Missense_Mutation_p.R39Q|ALG5_ENST00000413537.2_Missense_Mutation_p.R39Q|ALG5_ENST00000496689.1_5'UTR	p.R39Q	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	2	182	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	39					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.116G>A	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189739	0.38707	2.27E-4	0.0	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.82893	-1.66;-1.11	6.17	-12.3	0.00002	.	0.477608	0.24859	N	0.035036	T	0.66056	0.2751	L	0.39566	1.225	0.20975	N	0.999819	B;B	0.34015	0.384;0.435	B;B	0.33254	0.16;0.077	T	0.58978	-0.7540	10	0.45353	T	0.12	.	9.7067	0.40220	0.1548:0.2821:0.0:0.5631	.	39;39	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	Q	39	ENSP00000239891:R39Q;ENSP00000389647:R39Q	ENSP00000239891:R39Q	R	-	2	0	ALG5	36467684	0.001000	0.12720	0.010000	0.14722	0.621000	0.37620	-1.223000	0.02962	-3.425000	0.00166	-1.827000	0.00596	CGA		0.383	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		15	38	0	0	0	1	0	15	38				
DDX26B	203522	broad.mit.edu	37	X	134706886	134706886	+	Silent	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:134706886G>T	ENST00000370752.4	+	11	1768	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	478										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCACAGGGGAAACTGCAC	0.353																																						ENST00000370752.4																			0				large_intestine(1)|lung(8)	9						c.(1432-1434)ggG>ggT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B							69.0	71.0	71.0					X																	134706886		2203	4300	6503	SO:0001819	synonymous_variant	203522							g.chrX:134706886G>T	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1434G>T	X.37:g.134706886G>T						DDX26B_ENST00000493637.1_3'UTR	p.G478G	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN			11	1768	+	Acute lymphoblastic leukemia(192;6.56e-05)		478					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Silent	SNP	ENST00000370752.4	37	c.1434G>T	CCDS35401.1																																																																																				0.353	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		28	7	1	0	3.73148e-12	1	3.87318e-12	28	7				
GOLGA2	2801	broad.mit.edu	37	9	131022430	131022430	+	Silent	SNP	C	C	T	rs373870855		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:131022430C>T	ENST00000421699.2	-	18	1728	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S	GOLGA2_ENST00000609374.1_Silent_p.S560S|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	572					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGTGCTGCTCCGACTGCAGTG	0.592																																						ENST00000421699.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1714-1716)tcG>tcA		golgin A2							109.0	104.0	106.0					9																	131022430		2203	4300	6503	SO:0001819	synonymous_variant	2801					Golgi cisterna membrane	protein binding	g.chr9:131022430C>T	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1716G>A	9.37:g.131022430C>T							p.S572S	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN			18	1728	-			572					Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	c.1716G>A	CCDS6896.2																																																																																				0.592	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		28	46	0	0	0	1	0	28	46				
MYH14	79784	broad.mit.edu	37	19	50750373	50750373	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:50750373G>A	ENST00000596571.1	+	10	1299	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	MYH14_ENST00000425460.1_Silent_p.K441K|MYH14_ENST00000376970.2_Silent_p.K433K|MYH14_ENST00000601313.1_Silent_p.K441K|MYH14_ENST00000598205.1_Silent_p.K441K|MYH14_ENST00000440075.2_Silent_p.K441K|MYH14_ENST00000262269.8_Silent_p.K441K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	433	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAGACTAAGGAACAGGTAG	0.597																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1321-1323)aaG>aaA		myosin, heavy chain 14, non-muscle							32.0	36.0	35.0					19																	50750373		2055	4220	6275	SO:0001819	synonymous_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50750373G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1299G>A	19.37:g.50750373G>A						MYH14_ENST00000376970.2_Silent_p.K433K|MYH14_ENST00000596571.1_Silent_p.K433K|MYH14_ENST00000598205.1_Silent_p.K441K|MYH14_ENST00000601313.1_Silent_p.K441K|MYH14_ENST00000262269.8_Silent_p.K441K|MYH14_ENST00000425460.1_Silent_p.K441K	p.K441K			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	12	1370	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	433			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	ENST00000596571.1	37	c.1323G>A	CCDS59411.1																																																																																				0.597	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		8	19	0	0	0	1	0	8	19				
SH3TC2	79628	broad.mit.edu	37	5	148411245	148411245	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:148411245C>T	ENST00000515425.1	-	9	1108	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R329K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R221K|SH3TC2_ENST00000513340.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	336					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGAGTTCCTGCTCCTGCA	0.522																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1006-1008)aGg>aAg		SH3 domain and tetratricopeptide repeats 2							120.0	100.0	107.0					5																	148411245		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148411245C>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1007G>A	5.37:g.148411245C>T	ENSP00000423660:p.Arg336Lys					SH3TC2_ENST00000394358.2_Missense_Mutation_p.R221K|SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R329K|SH3TC2_ENST00000538184.1_5'UTR	p.R336K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	1108	-			336					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1007G>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	1.068	-0.670777	0.03403	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.73789	-0.78;-0.78;-0.43	5.53	4.39	0.52855	.	0.258604	0.38164	N	0.001793	T	0.42131	0.1189	N	0.01874	-0.695	0.22127	N	0.999344	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32268	-0.9913	10	0.02654	T	1	.	9.6961	0.40158	0.0:0.0868:0.0:0.9132	.	221;329;336	C9JLC3;Q14CC0;Q8TF17	.;.;S3TC2_HUMAN	K	336;329;221	ENSP00000423660:R336K;ENSP00000421860:R329K;ENSP00000377886:R221K	ENSP00000377886:R221K	R	-	2	0	SH3TC2	148391438	0.997000	0.39634	0.998000	0.56505	0.219000	0.24729	1.302000	0.33459	1.046000	0.40249	0.563000	0.77884	AGG		0.522	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		17	16	0	0	0	1	0	17	16				
TCTE3	6991	broad.mit.edu	37	6	170144257	170144257	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:170144257C>T	ENST00000366774.3	-	2	334	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	78					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TTAATTTTGCCAGGGCACTCT	0.373																																						ENST00000366774.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4						c.(232-234)ctG>ctA		t-complex-associated-testis-expressed 3							65.0	69.0	67.0					6																	170144257		2203	4300	6503	SO:0001819	synonymous_variant	6991				transport	cytoplasm|dynein complex|membrane|microtubule	motor activity	g.chr6:170144257C>T	AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"""Tctex1 domain containing 3"""	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.234G>A	6.37:g.170144257C>T							p.L78L	NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)	2	334	-		Breast(66;0.000338)	78						Silent	SNP	ENST00000366774.3	37	c.234G>A	CCDS5310.1																																																																																				0.373	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043243.1	NM_174910		17	25	0	0	0	1	0	17	25				
GPR98	84059	broad.mit.edu	37	5	90136725	90136725	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:90136725C>T	ENST00000405460.2	+	78	17038	c.16942C>T	c.(16942-16944)Ctc>Ttc	p.L5648F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1309F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5648					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAGAGTGCTCCATACCAT	0.423																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(16942-16944)Ctc>Ttc		G protein-coupled receptor 98							76.0	76.0	76.0					5																	90136725		1993	4187	6180	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90136725C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16942C>T	5.37:g.90136725C>T	ENSP00000384582:p.Leu5648Phe					GPR98_ENST00000425867.2_Missense_Mutation_p.L1309F	p.L5648F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	78	17038	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5648					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.16942C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916682	0.73098	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28069	1.63;1.63	6.16	5.28	0.74379	.	0.057682	0.64402	D	0.000001	T	0.54854	0.1884	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.968;0.999	T	0.55373	-0.8151	9	.	.	.	.	16.829	0.85939	0.1296:0.8704:0.0:0.0	.	1309;5648;1309	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	F	5648;5648;1309	ENSP00000384582:L5648F;ENSP00000392618:L1309F	.	L	+	1	0	GPR98	90172481	1.000000	0.71417	0.960000	0.40013	0.606000	0.37113	6.753000	0.74904	1.571000	0.49722	0.650000	0.86243	CTC		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		16	23	0	0	0	1	0	16	23				
ASAP1	50807	broad.mit.edu	37	8	131149272	131149272	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:131149272G>T	ENST00000518721.1	-	14	1320	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ASAP1_ENST00000357668.1_Missense_Mutation_p.P365T	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	365	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTGGCTGGTTGCCTGTTA	0.448																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1093-1095)Cca>Aca		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							162.0	153.0	156.0					8																	131149272		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131149272G>T	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1093C>A	8.37:g.131149272G>T	ENSP00000429900:p.Pro365Thr					ASAP1_ENST00000518721.1_Missense_Mutation_p.P365T	p.P365T			Q9ULH1	ASAP1_HUMAN			13	1120	-			365			PH.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1093C>A	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.896646|4.896646	0.91962|0.91962	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.74947|.	-0.89;-0.89|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69151|0.69151	0.3079|0.3079	L|L	0.43646|0.43646	1.37|1.37	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|T	0.61763|0.61763	-0.6996|-0.6996	10|5	0.59425|.	D|.	0.04|.	.|.	19.8676|19.8676	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	365;365;368|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	T|N	368;365;365|185	ENSP00000350297:P365T;ENSP00000429900:P365T|.	ENSP00000344591:P368T|.	P|T	-|-	1|2	0|0	ASAP1|ASAP1	131218454|131218454	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	9.414000|9.414000	0.97362|0.97362	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCA|ACC		0.448	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		29	38	1	0	1.13719e-10	1	1.16562e-10	29	38				
ANKRD1	27063	broad.mit.edu	37	10	92678671	92678671	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:92678671A>G	ENST00000371697.3	-	4	652	c.404T>C	c.(403-405)gTa>gCa	p.V135A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	135					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTTTTCTACTACTGGCAGTTT	0.343																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(403-405)gTa>gCa		ankyrin repeat domain 1 (cardiac muscle)							96.0	108.0	104.0					10																	92678671		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92678671A>G	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.404T>C	10.37:g.92678671A>G	ENSP00000360762:p.Val135Ala						p.V135A	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			4	652	-		Colorectal(252;0.0475)	135					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.404T>C	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	A	32	5.141116	0.94560	.	.	ENSG00000148677	ENST00000371697	T	0.62788	0.0	5.65	5.65	0.86999	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000003	T	0.64724	0.2624	N	0.20328	0.56	0.80722	D	1	P	0.49862	0.929	P	0.59115	0.852	T	0.68454	-0.5404	10	0.56958	D	0.05	.	16.17	0.81801	1.0:0.0:0.0:0.0	.	135	Q15327	ANKR1_HUMAN	A	135	ENSP00000360762:V135A	ENSP00000360762:V135A	V	-	2	0	ANKRD1	92668651	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.320000	0.89995	2.279000	0.76181	0.533000	0.62120	GTA		0.343	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		18	18	0	0	0	1	0	18	18				
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:142795437C>T	ENST00000370498.1	-	2	994	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453																																						ENST00000370498.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R90R(1)|p.V81F(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(241-243)Gtc>Atc		SPANX family, member N2							305.0	279.0	288.0					X																	142795437		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142795437C>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.241G>A	X.37:g.142795437C>T	ENSP00000359529:p.Val81Ile						p.V81I	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			2	994	-	Acute lymphoblastic leukemia(192;6.56e-05)		81					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.241G>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.835585	0.00579	.	.	ENSG00000203924	ENST00000370498	T	0.06687	3.27	0.225	0.225	0.15325	.	.	.	.	.	T	0.02193	0.0068	N	0.02225	-0.63	0.09310	N	1	P	0.39665	0.682	B	0.29267	0.1	T	0.43442	-0.9391	8	0.19147	T	0.46	.	.	.	.	.	81	Q5MJ10	SPXN2_HUMAN	I	81	ENSP00000359529:V81I	ENSP00000359529:V81I	V	-	1	0	SPANXN2	142623103	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.380000	0.07427	0.280000	0.22209	0.284000	0.19432	GTC		0.453	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		132	16	0	0	0	1	0	132	16				
COL1A1	1277	broad.mit.edu	37	17	48270361	48270361	+	Silent	SNP	G	G	A	rs72651616|rs370384784		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48270361G>A	ENST00000225964.5	-	26	1933	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	605	Triple-helical region.		G -> D (in OI2). {ECO:0000269|PubMed:18996919}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G605G(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TTACGACAGCGCCAGGGGGTC	0.627			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	1	Substitution - coding silent(1)	p.G605G(1)	breast(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1813-1815)ggC>ggT		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)	G		0,4406		0,0,2203	45.0	48.0	47.0		1815	-3.3	1.0	17		47	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL1A1	NM_000088.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		605/1465	48270361	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48270361G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1815C>T	17.37:g.48270361G>A							p.G605G	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			26	1933	-			605		G -> D (in OI2A).	Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1815C>T	CCDS11561.1																																																																																				0.627	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			5	15	0	0	0	1	0	5	15				
SPNS1	83985	broad.mit.edu	37	16	28995597	28995597	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:28995597C>T	ENST00000311008.11	+	12	1941	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	SPNS1_ENST00000565975.1_Missense_Mutation_p.P567S|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395461.3_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000334536.8_Missense_Mutation_p.P470S|SPNS1_ENST00000323081.8_Missense_Mutation_p.P449S|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000352260.7_Missense_Mutation_p.P448S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	522					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CACCCGCGTGCCCGTGGCCAG	0.697																																						ENST00000311008.11																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(1564-1566)Ccc>Tcc		spinster homolog 1 (Drosophila)							26.0	28.0	27.0					16																	28995597		2194	4296	6490	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995597C>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1564C>T	16.37:g.28995597C>T	ENSP00000309945:p.Pro522Ser					RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.P567S|SPNS1_ENST00000334536.8_Missense_Mutation_p.P470S|SPNS1_ENST00000323081.8_Missense_Mutation_p.P449S|SPNS1_ENST00000352260.7_Missense_Mutation_p.P448S	p.P522S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN			12	1941	+			522					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.1564C>T	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376991	0.42105	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.32988	1.93;1.43;1.45;1.94	4.45	4.45	0.53987	.	0.138959	0.49916	D	0.000139	T	0.29882	0.0747	L	0.43152	1.355	0.53688	D	0.999979	P;B;P	0.41450	0.75;0.067;0.75	B;B;B	0.41440	0.357;0.023;0.357	T	0.05354	-1.0890	10	0.39692	T	0.17	.	14.6389	0.68708	0.0:1.0:0.0:0.0	.	448;522;470	Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;SPNS1_HUMAN;.	S	522;470;448;449	ENSP00000309945:P522S;ENSP00000335494:P470S;ENSP00000306050:P448S;ENSP00000318228:P449S	ENSP00000309945:P522S	P	+	1	0	SPNS1	28903098	0.994000	0.37717	0.494000	0.27515	0.436000	0.31835	5.381000	0.66208	2.311000	0.77944	0.655000	0.94253	CCC		0.697	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		9	18	0	0	0	1	0	9	18				
OR4F6	390648	broad.mit.edu	37	15	102346763	102346763	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:102346763G>A	ENST00000328882.4	+	1	862	c.841G>A	c.(841-843)Gtt>Att	p.V281I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCACTCCCGTTTTGAATCC	0.343																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(841-843)Gtt>Att		olfactory receptor, family 4, subfamily F, member 6							76.0	72.0	73.0					15																	102346763		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346763G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.841G>A	15.37:g.102346763G>A	ENSP00000327525:p.Val281Ile						p.V281I	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	862	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		281					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.841G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	0.111	-1.138351	0.01742	.	.	ENSG00000184140	ENST00000328882	T	0.37411	1.2	4.9	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.231476	0.30575	N	0.009339	T	0.20455	0.0492	N	0.25647	0.755	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.16808	-1.0390	9	.	.	.	.	5.9264	0.19114	0.1548:0.0:0.3507:0.4945	.	281	Q8NGB9	OR4F6_HUMAN	I	281	ENSP00000327525:V281I	.	V	+	1	0	OR4F6	100164286	0.001000	0.12720	0.974000	0.42286	0.007000	0.05969	-0.085000	0.11250	0.409000	0.25649	-0.467000	0.05162	GTT		0.343	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			23	28	0	0	0	1	0	23	28				
IGLV3-12	28802	broad.mit.edu	37	22	23114963	23114963	+	RNA	SNP	C	C	T	rs371079017	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr22:23114963C>T	ENST00000390313.2	+	0	244									immunoglobulin lambda variable 3-12																		GATCCCTGAGCGATTCTCTGG	0.567													c|||	2	0.000399361	0.0	0.0	5008	,	,		14250	0.002		0.0	False		,,,				2504	0.0					ENST00000390313.2																			0															C		1,3947		0,1,1973	59.0	60.0	59.0			0.3	0.0	22		59	0,8266		0,0,4133	no	intergenic				0,1,6106	TT,TC,CC		0.0,0.0253,0.0082			23114963	1,12213	1974	4133	6107			0							g.chr22:23114963C>T	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23114963C>T														0	244	+									RNA	SNP	ENST00000390313.2	37																																																																																						0.567	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		6	7	0	0	0	1	0	6	7				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	22	0	0	0	1	0	3	22				
GPR55	9290	broad.mit.edu	37	2	231774733	231774733	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:231774733C>T	ENST00000392040.1	-	2	1137	c.945G>A	c.(943-945)acG>acA	p.T315T	GPR55_ENST00000392039.2_Silent_p.T315T|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	315					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCGGGAGATCGTGGTGTCCT	0.552																																						ENST00000392040.1																			0				endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(943-945)acG>acA		G protein-coupled receptor 55							69.0	73.0	71.0					2																	231774733		2203	4300	6503	SO:0001819	synonymous_variant	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231774733C>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.945G>A	2.37:g.231774733C>T						AC012507.4_ENST00000454890.1_RNA|GPR55_ENST00000392039.2_Silent_p.T315T	p.T315T	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	1137	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	315					Q8N580	Silent	SNP	ENST00000392040.1	37	c.945G>A	CCDS2480.1																																																																																				0.552	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		30	36	0	0	0	1	0	30	36				
EPN3	55040	broad.mit.edu	37	17	48616618	48616618	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48616618G>A	ENST00000268933.3	+	5	1412	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000541226.1_Missense_Mutation_p.R195Q|EPN3_ENST00000537145.1_Missense_Mutation_p.R306Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	278						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCATCAGCGGGACAGAGAG	0.597																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(832-834)cGg>cAg		epsin 3							95.0	95.0	95.0					17																	48616618		2203	4300	6503	SO:0001583	missense	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616618G>A	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.833G>A	17.37:g.48616618G>A	ENSP00000268933:p.Arg278Gln					EPN3_ENST00000537145.1_Missense_Mutation_p.R306Q|EPN3_ENST00000541226.1_Missense_Mutation_p.R195Q	p.R278Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1412	+	Breast(11;1.23e-18)		278					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.833G>A	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.328168	0.01309	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.42513	2.57;2.47;0.97	4.64	-9.28	0.00656	.	2.674420	0.01908	N	0.039660	T	0.25457	0.0619	L	0.38175	1.15	0.09310	N	1	B;B;B	0.20261	0.026;0.043;0.003	B;B;B	0.10450	0.002;0.005;0.002	T	0.10800	-1.0614	10	0.11182	T	0.66	-0.2675	7.0608	0.25125	0.102:0.0973:0.7035:0.0972	.	306;306;278	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	Q	278;306;306;195;278	ENSP00000268933:R278Q;ENSP00000439512:R306Q;ENSP00000440540:R195Q	ENSP00000268933:R278Q	R	+	2	0	EPN3	45971617	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.523000	0.02235	-1.674000	0.01461	-0.680000	0.03767	CGG		0.597	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		18	30	0	0	0	1	0	18	30				
COL6A3	1293	broad.mit.edu	37	2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T	rs371441617		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547																																						ENST00000295550.4																			1	Substitution - Missense(1)	p.R1798H(1)	large_intestine(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5392-5394)cGc>cAc		collagen, type VI, alpha 3							97.0	89.0	92.0					2																	238275437		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275437C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5393G>A	2.37:g.238275437C>T	ENSP00000295550:p.Arg1798His					COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H	p.R1798H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5845	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1798			Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5393G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597341	0.28445	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.51	3.69	0.42338	von Willebrand factor, type A (3);	0.000000	0.48286	D	0.000191	D	0.86351	0.5912	N	0.26130	0.795	0.43088	D	0.994755	D;D;D	0.89917	1.0;1.0;0.996	D;D;P	0.97110	1.0;0.999;0.845	T	0.83021	-0.0167	10	0.23302	T	0.38	.	14.8057	0.69952	0.263:0.737:0.0:0.0	.	1191;1592;1798	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1798;1597;1592;1191;1592;1598	ENSP00000295550:R1798H;ENSP00000315609:R1597H;ENSP00000315873:R1592H;ENSP00000418285:R1191H;ENSP00000386844:R1592H;ENSP00000295546:R1598H	ENSP00000295550:R1798H	R	-	2	0	COL6A3	237940176	1.000000	0.71417	0.506000	0.27664	0.147000	0.21601	4.669000	0.61575	0.663000	0.31027	0.650000	0.86243	CGC		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		31	50	0	0	0	1	0	31	50				
ACTB	60	broad.mit.edu	37	7	5567243	5567243	+	Splice_Site	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:5567243C>T	ENST00000464611.1	-	3	254		c.e3-1		AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000331789.5_3'UTR			P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TTTTTAAATCCTGAGTCAAGC	0.398																																						ENST00000464611.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.e3-1		actin, beta																																				SO:0001630	splice_region_variant	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567243C>T	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000464611.1:c.462-1G>A	7.37:g.5567243C>T						ACTB_ENST00000331789.5_3'UTR				P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	254	-		Ovarian(82;0.0606)						A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Splice_Site	SNP	ENST00000464611.1	37																																																																																						0.398	ACTB-013	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000324086.1	NM_001101	Intron	8	14	0	0	0	1	0	8	14				
DOCK5	80005	broad.mit.edu	37	8	25198440	25198440	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:25198440G>A	ENST00000276440.7	+	23	2419	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	792					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R792H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATTCAATTCGCCAGTTATTT	0.398																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			1	Substitution - Missense(1)	p.R792H(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2374-2376)cGc>cAc		dedicator of cytokinesis 5							93.0	89.0	90.0					8																	25198440		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25198440G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2375G>A	8.37:g.25198440G>A	ENSP00000276440:p.Arg792His						p.R792H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	23	2419	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	792					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2375G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334609	0.81801	.	.	ENSG00000147459	ENST00000276440	T	0.53206	0.63	4.99	4.99	0.66335	Armadillo-type fold (1);	0.055765	0.64402	D	0.000001	T	0.49695	0.1572	L	0.28115	0.83	0.80722	D	1	D;D;D	0.59767	0.986;0.962;0.986	P;P;P	0.56514	0.8;0.696;0.8	T	0.32375	-0.9909	10	0.18710	T	0.47	.	18.4893	0.90841	0.0:0.0:1.0:0.0	.	782;567;792	D3DSS6;Q68DL4;Q9H7D0	.;.;DOCK5_HUMAN	H	792	ENSP00000276440:R792H	ENSP00000276440:R792H	R	+	2	0	DOCK5	25254357	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.406000	0.80017	2.590000	0.87494	0.650000	0.86243	CGC		0.398	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		8	6	0	0	0	1	0	8	6				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	40	0	0	0	1	0	8	40				
TTC21A	199223	broad.mit.edu	37	3	39179140	39179140	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:39179140G>C	ENST00000431162.2	+	26	3769	c.3635G>C	c.(3634-3636)tGc>tCc	p.C1212S	TTC21A_ENST00000440121.1_Missense_Mutation_p.C1164S|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000301819.6_Missense_Mutation_p.C1213S			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1212										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GACATTTACTGCCAGGGCAGC	0.607																																						ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3637-3639)tGc>tCc		tetratricopeptide repeat domain 21A							46.0	53.0	51.0					3																	39179140		2102	4218	6320	SO:0001583	missense	199223						binding	g.chr3:39179140G>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3635G>C	3.37:g.39179140G>C	ENSP00000398211:p.Cys1212Ser					TTC21A_ENST00000431162.2_Missense_Mutation_p.C1212S|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.C1164S	p.C1213S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	26	3815	+			1212					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3638G>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200427	0.22121	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.74947	-0.89;-0.89;-0.89	4.26	3.36	0.38483	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.452067	0.21110	N	0.080009	T	0.69088	0.3072	M	0.65975	2.015	0.35512	D	0.80073	B;B;B	0.20052	0.024;0.041;0.024	B;B;B	0.18561	0.006;0.022;0.01	T	0.67385	-0.5684	10	0.25751	T	0.34	-8.0682	10.3614	0.43996	0.0:0.0:0.6441:0.3559	.	1164;1213;1212	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	S	1213;1195;1212;1164	ENSP00000301819:C1213S;ENSP00000398211:C1212S;ENSP00000410882:C1164S	ENSP00000301819:C1213S	C	+	2	0	TTC21A	39154144	1.000000	0.71417	0.483000	0.27378	0.351000	0.29236	4.410000	0.59774	0.730000	0.32425	0.313000	0.20887	TGC		0.607	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		4	13	0	0	0	1	0	4	13				
CATSPERD	257062	broad.mit.edu	37	19	5727283	5727283	+	Missense_Mutation	SNP	G	G	A	rs182825334		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:5727283G>A	ENST00000381624.3	+	3	192	c.131G>A	c.(130-132)cGc>cAc	p.R44H	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	44					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CTCTAGGACCGCCTGTATTTT	0.338													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19125	0.0		0.0	False		,,,				2504	0.0					ENST00000381624.3																			0											c.(130-132)cGc>cAc		catsper channel auxiliary subunit delta		G	HIS/ARG	2,3630		0,2,1814	103.0	95.0	98.0		131	-6.0	0.0	19		98	21,8115		0,21,4047	yes	missense	TMEM146	NM_152784.3	29	0,23,5861	AA,AG,GG		0.2581,0.0551,0.1954	probably-damaging	44/799	5727283	23,11745	1816	4068	5884	SO:0001583	missense	257062					integral to membrane		g.chr19:5727283G>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.131G>A	19.37:g.5727283G>A	ENSP00000371037:p.Arg44His					CATSPERD_ENST00000381614.2_5'UTR	p.R44H	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			3	192	+			44					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.131G>A	CCDS12149.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.933	0.356130	0.11239	5.51E-4	0.002581	ENSG00000174898	ENST00000381624	T	0.24908	1.83	3.0	-5.99	0.02213	.	.	.	.	.	T	0.19167	0.0460	L	0.44542	1.39	0.09310	N	0.999999	D	0.59357	0.985	P	0.46510	0.519	T	0.18871	-1.0323	9	0.49607	T	0.09	.	2.5935	0.04848	0.3028:0.1651:0.4073:0.1248	.	44	Q86XM0	TM146_HUMAN	H	44	ENSP00000371037:R44H	ENSP00000371037:R44H	R	+	2	0	TMEM146	5678283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.541000	0.00218	-4.388000	0.00052	-1.613000	0.00800	CGC		0.338	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		28	69	0	0	0	1	0	28	69				
ACLY	47	broad.mit.edu	37	17	40040509	40040509	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:40040509G>C	ENST00000352035.2	-	19	2221	c.2091C>G	c.(2089-2091)ttC>ttG	p.F697L	ACLY_ENST00000537919.1_Missense_Mutation_p.F426L|ACLY_ENST00000353196.1_Missense_Mutation_p.F687L|ACLY_ENST00000590151.1_Missense_Mutation_p.F697L|ACLY_ENST00000393896.2_Missense_Mutation_p.F687L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	697					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATGATCCATGAATGTGGAGC	0.438																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2089-2091)ttC>ttG		ATP citrate lyase							89.0	77.0	81.0					17																	40040509		2203	4300	6503	SO:0001583	missense	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40040509G>C	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2091C>G	17.37:g.40040509G>C	ENSP00000253792:p.Phe697Leu					ACLY_ENST00000353196.1_Missense_Mutation_p.F687L|ACLY_ENST00000590151.1_Missense_Mutation_p.F697L|ACLY_ENST00000393896.2_Missense_Mutation_p.F687L|ACLY_ENST00000537919.1_Missense_Mutation_p.F426L	p.F697L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			19	2221	-		Breast(137;0.000143)	697					B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	ENST00000352035.2	37	c.2091C>G	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114344	0.56505	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.69	-0.411	0.12370	Succinyl-CoA synthetase-like (1);Citrate synthase-like, core (1);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.88310	2.945	0.58432	D	0.999996	B;D;D;D;D	0.67145	0.009;0.995;0.995;0.996;0.971	B;P;P;P;P	0.60541	0.012;0.774;0.774;0.876;0.568	D	0.84642	0.0696	10	0.41790	T	0.15	.	15.8378	0.78811	0.2011:0.0:0.7989:0.0	.	426;741;751;687;697	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	697;751;687;426;687	ENSP00000253792:F697L;ENSP00000345398:F687L;ENSP00000445349:F426L;ENSP00000377474:F687L	ENSP00000253792:F697L	F	-	3	2	ACLY	37294035	0.966000	0.33281	0.965000	0.40720	0.526000	0.34562	0.020000	0.13466	-0.017000	0.14103	0.455000	0.32223	TTC		0.438	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		20	27	0	0	0	1	0	20	27				
SELE	6401	broad.mit.edu	37	1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	ACCTTTACACGTTGGCTTCTC	0.443																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(892-894)aCg>aTg		selectin E							139.0	129.0	133.0					1																	169698637		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169698637G>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.893C>T	1.37:g.169698637G>A	ENSP00000331736:p.Thr298Met					SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M	p.T298M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			6	1032	-	all_hematologic(923;0.208)		298			Sushi 2.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.893C>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	5.449	0.267890	0.10349	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367780;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367775;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.71	-3.56	0.04626	Complement control module (2);Sushi/SCR/CCP (3);	0.343688	0.21421	N	0.074815	T	0.45296	0.1335	M	0.87456	2.885	0.09310	N	1	B	0.31413	0.322	B	0.32624	0.149	T	0.49952	-0.8884	10	0.46703	T	0.11	-1.6173	5.0622	0.14562	0.4003:0.0:0.3852:0.2145	.	298	P16581	LYAM2_HUMAN	M	298;298;236;298;298;298;236;298;298	ENSP00000356755:T298M;ENSP00000356756:T298M;ENSP00000356754:T236M;ENSP00000356753:T298M;ENSP00000331736:T298M;ENSP00000356751:T298M;ENSP00000356749:T236M;ENSP00000356750:T298M;ENSP00000356748:T298M	ENSP00000331736:T298M	T	-	2	0	SELE	167965261	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	-2.589000	0.00900	-0.349000	0.08274	-1.801000	0.00618	ACG		0.443	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		34	33	0	0	0	1	0	34	33				
PAK6	56924	broad.mit.edu	37	15	40558146	40558146	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:40558146G>A	ENST00000542403.2	+	3	419	c.308G>A	c.(307-309)cGc>cAc	p.R103H	PAK6_ENST00000441369.1_Missense_Mutation_p.R103H|PAK6_ENST00000453867.1_Missense_Mutation_p.R103H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.R103H|PAK6_ENST00000560346.1_Missense_Mutation_p.R103H|PAK6_ENST00000260404.4_Missense_Mutation_p.R103H	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	103	Linker.		R -> C (in dbSNP:rs36081263).		apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCGTGGCCGCAGCCCCACC	0.667																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(307-309)cGc>cAc		p21 protein (Cdc42/Rac)-activated kinase 6							21.0	14.0	16.0					15																	40558146		2117	4155	6272	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40558146G>A	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.308G>A	15.37:g.40558146G>A	ENSP00000439597:p.Arg103His					PAK6_ENST00000560346.1_Missense_Mutation_p.R103H|PAK6_ENST00000260404.4_Missense_Mutation_p.R103H|PAK6_ENST00000441369.1_Missense_Mutation_p.R103H|PAK6_ENST00000542403.2_Missense_Mutation_p.R103H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.R103H	p.R103H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	5	1220	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	103		R -> C (in dbSNP:rs36081263).	Linker.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.308G>A	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	g	12.88	2.070769	0.36566	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.74002	-0.76;-0.76;-0.8;-0.76;-0.76	5.38	3.48	0.39840	.	0.104577	0.64402	N	0.000005	T	0.66076	0.2753	L	0.54323	1.7	0.35806	D	0.823529	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.65047	-0.6263	10	0.48119	T	0.1	.	7.4918	0.27466	0.1426:0.0:0.7211:0.1363	.	103;103	Q9NQU5;G5E9R2	PAK6_HUMAN;.	H	103	ENSP00000406873:R103H;ENSP00000401153:R103H;ENSP00000409465:R103H;ENSP00000260404:R103H;ENSP00000439597:R103H	ENSP00000260404:R103H	R	+	2	0	PAK6	38345438	1.000000	0.71417	0.994000	0.49952	0.723000	0.41478	1.804000	0.38873	0.642000	0.30620	0.556000	0.70494	CGC		0.667	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			3	10	0	0	0	1	0	3	10				
FCHSD1	89848	broad.mit.edu	37	5	141028985	141028985	+	Missense_Mutation	SNP	C	C	T	rs201659999		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141028985C>T	ENST00000435817.2	-	5	402	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	FCHSD1_ENST00000522126.1_Missense_Mutation_p.A42T|FCHSD1_ENST00000519800.1_Missense_Mutation_p.A116T|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A116T|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	118									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCTTGGCGCTCCGCCCT	0.612																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(352-354)Gcc>Acc		FCH and double SH3 domains 1		C	THR/ALA	0,4144		0,0,2072	156.0	171.0	166.0		352	5.2	1.0	5		166	6,8412		0,6,4203	yes	missense	FCHSD1	NM_033449.2	58	0,6,6275	TT,TC,CC		0.0713,0.0,0.0478	possibly-damaging	118/691	141028985	6,12556	2072	4209	6281	SO:0001583	missense	89848							g.chr5:141028985C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.352G>A	5.37:g.141028985C>T	ENSP00000399259:p.Ala118Thr					FCHSD1_ENST00000522126.1_Missense_Mutation_p.A42T|FCHSD1_ENST00000519800.1_Missense_Mutation_p.A116T|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A116T	p.A118T	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	402	-			118					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.352G>A	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912881	0.52439	0.0	7.13E-4	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.2	5.2	0.72013	.	0.485095	0.20063	N	0.100031	T	0.11239	0.0274	L	0.44542	1.39	0.80722	D	1	P	0.51351	0.944	B	0.38755	0.281	T	0.13045	-1.0524	10	0.22109	T	0.4	-17.3853	11.3868	0.49789	0.1806:0.8194:0.0:0.0	.	118	Q86WN1	FCSD1_HUMAN	T	118;42;116;116	ENSP00000399259:A118T;ENSP00000427796:A42T;ENSP00000428677:A116T;ENSP00000428776:A116T	ENSP00000399259:A118T	A	-	1	0	FCHSD1	141009169	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.753000	0.47524	2.416000	0.81992	0.561000	0.74099	GCC		0.612	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		68	137	0	0	0	1	0	68	137				
PDXDC2P	283970	broad.mit.edu	37	16	70010458	70010458	+	RNA	SNP	G	G	A	rs3206834	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:70010458G>A	ENST00000531894.1	-	0	3925				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										GAGGGTGGAAGGGGAATAAGA	0.512													g|||	1754	0.35024	0.0809	0.5187	5008	,	,		5105	0.2609		0.6292	False		,,,				2504	0.3998					ENST00000532298.1																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(820-822)Ctt>Ttt																																								0							g.chr16:70010458G>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010458G>A						PDXDC2P_ENST00000531894.1_RNA	p.L274F							7	819	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.820C>T		1018	0.4661172161172161	104	0.21138211382113822	208	0.574585635359116	267	0.46678321678321677	439	0.579155672823219	.	8.557	0.876801	0.17395	.	.	ENSG00000226232	ENST00000532298	T	0.62105	0.05	.	.	.	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48139	-0.9061	3	0.87932	D	0	.	.	.	.	rs3206834;rs3206834	.	.	.	F	274	ENSP00000448651:L274F	ENSP00000448651:L274F	L	-	1	0	RP11-419C5.2	68567959	0.006000	0.16342	0.013000	0.15412	0.013000	0.08279	0.150000	0.16263	0.107000	0.17824	0.109000	0.15622	CTT		0.512	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			3	21	0	0	0	1	0	3	21				
OR5F1	338674	broad.mit.edu	37	11	55761801	55761801	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:55761801T>A	ENST00000278409.1	-	1	300	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	101					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAAGTACATCTGTAGGAAG	0.463																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(301-303)Atg>Ttg		olfactory receptor, family 5, subfamily F, member 1							86.0	83.0	84.0					11																	55761801		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761801T>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.301A>T	11.37:g.55761801T>A	ENSP00000278409:p.Met101Leu						p.M101L	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	300	-	Esophageal squamous(21;0.00448)		101					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.301A>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	T	4.965	0.179246	0.09443	.	.	ENSG00000149133	ENST00000278409	T	0.01963	4.53	3.03	-6.06	0.02165	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00936	0.0031	N	0.11364	0.135	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.48864	-0.8997	9	0.10111	T	0.7	.	2.0312	0.03529	0.2521:0.1107:0.4528:0.1844	.	101	O95221	OR5F1_HUMAN	L	101	ENSP00000278409:M101L	ENSP00000278409:M101L	M	-	1	0	OR5F1	55518377	0.000000	0.05858	0.759000	0.31340	0.795000	0.44927	-1.744000	0.01832	-0.732000	0.04856	0.247000	0.18012	ATG		0.463	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		29	53	0	0	0	1	0	29	53				
KRTAP4-6	81871	broad.mit.edu	37	17	39296361	39296361	+	Missense_Mutation	SNP	A	A	G	rs146882220		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:39296361A>G	ENST00000345847.4	-	1	378	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	127	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CAGCACTGGGACCTGCAGCAC	0.652																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(379-381)Tcc>Ccc		keratin associated protein 4-6																																				SO:0001583	missense	81871					keratin filament		g.chr17:39296361A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.379T>C	17.37:g.39296361A>G	ENSP00000328270:p.Ser127Pro						p.S127P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	378	-			123			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Missense_Mutation	SNP	ENST00000345847.4	37	c.379T>C	CCDS54125.1	.	.	.	.	.	.	.	.	.	.	.	3.733	-0.055148	0.07362	.	.	ENSG00000198090	ENST00000345847	T	0.00578	6.44	3.53	1.53	0.23141	.	.	.	.	.	T	0.00241	0.0007	N	0.00750	-1.22	0.80722	P	0.0	.	.	.	.	.	.	T	0.30001	-0.9993	6	0.02654	T	1	.	6.9259	0.24414	0.3255:0.0:0.6745:0.0	.	.	.	.	P	127	ENSP00000328270:S127P	ENSP00000328270:S127P	S	-	1	0	KRTAP4-6	36549887	0.016000	0.18221	0.000000	0.03702	0.559000	0.35586	0.236000	0.17967	-0.043000	0.13513	-0.124000	0.14976	TCC		0.652	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	24	0	0	0	1	0	3	24				
OR2AT4	341152	broad.mit.edu	37	11	74800020	74800020	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:74800020T>A	ENST00000305159.3	-	1	779	c.739A>T	c.(739-741)Agc>Tgc	p.S247C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGGGAGCTGCAGGTGGAG	0.567																																						ENST00000305159.3																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(739-741)Agc>Tgc		olfactory receptor, family 2, subfamily AT, member 4							61.0	57.0	59.0					11																	74800020		2200	4293	6493	SO:0001583	missense	341152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:74800020T>A	BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.739A>T	11.37:g.74800020T>A	ENSP00000304846:p.Ser247Cys						p.S247C	NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN			1	779	-			247					B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	c.739A>T	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	T	15.83	2.950437	0.53186	.	.	ENSG00000171561	ENST00000305159	T	0.72394	-0.65	5.26	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.258488	0.20937	U	0.082981	T	0.79822	0.4512	M	0.84433	2.695	0.09310	N	1	D	0.64830	0.994	D	0.62955	0.909	T	0.69450	-0.5142	10	0.87932	D	0	.	3.3265	0.07068	0.1696:0.1812:0.0:0.6492	.	247	A6NND4	O2AT4_HUMAN	C	247	ENSP00000304846:S247C	ENSP00000304846:S247C	S	-	1	0	OR2AT4	74477668	0.000000	0.05858	0.998000	0.56505	0.997000	0.91878	-1.359000	0.02602	0.944000	0.37579	0.528000	0.53228	AGC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285		11	15	0	0	0	1	0	11	15				
SYNE3	161176	broad.mit.edu	37	14	95932397	95932397	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr14:95932397C>T	ENST00000334258.5	-	3	512	c.498G>A	c.(496-498)caG>caA	p.Q166Q	SYNE3_ENST00000557275.1_Silent_p.Q166Q|SYNE3_ENST00000553340.1_Silent_p.Q166Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	166					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGAGCACCGCCTGGTTGTCCA	0.637																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(496-498)caG>caA		spectrin repeat containing, nuclear envelope family member 3							74.0	70.0	71.0					14																	95932397		2203	4300	6503	SO:0001819	synonymous_variant	161176							g.chr14:95932397C>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.498G>A	14.37:g.95932397C>T						SYNE3_ENST00000557275.1_Silent_p.Q166Q|SYNE3_ENST00000553340.1_Silent_p.Q166Q	p.Q166Q	NM_152592.3	NP_689805.3					3	512	-								A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.498G>A	CCDS9935.1																																																																																				0.637	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		20	31	0	0	0	1	0	20	31				
ACSM4	341392	broad.mit.edu	37	12	7477158	7477158	+	Silent	SNP	G	G	A	rs576957989		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:7477158G>A	ENST00000399422.4	+	11	1548	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	500					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TTGTTGAATCGGCTGTTGTCA	0.428																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(1498-1500)tcG>tcA		acyl-CoA synthetase medium-chain family member 4							114.0	109.0	111.0					12																	7477158		1955	4137	6092	SO:0001819	synonymous_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7477158G>A		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1500G>A	12.37:g.7477158G>A							p.S500S	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			11	1548	+			500					A8MTI6	Silent	SNP	ENST00000399422.4	37	c.1500G>A	CCDS44825.1																																																																																				0.428	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454		15	29	0	0	0	1	0	15	29				
DYNC1I1	1780	broad.mit.edu	37	7	95657632	95657632	+	Splice_Site	SNP	C	C	T	rs546629907		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:95657632C>T	ENST00000324972.6	+	11	1359	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	DYNC1I1_ENST00000437599.1_Splice_Site_p.T369M|DYNC1I1_ENST00000447467.2_Splice_Site_p.T372M|DYNC1I1_ENST00000359388.4_Splice_Site_p.T352M|DYNC1I1_ENST00000457059.1_Splice_Site_p.T372M|DYNC1I1_ENST00000537881.1_Splice_Site_p.T352M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	389					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19607	0.0		0.0	False		,,,				2504	0.001					ENST00000324972.6																			1	Substitution - Missense(1)	p.T389M(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.e11+1		dynein, cytoplasmic 1, intermediate chain 1							107.0	90.0	95.0					7																	95657632		2203	4300	6503	SO:0001630	splice_region_variant	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95657632C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1167+1C>T	7.37:g.95657632C>T						DYNC1I1_ENST00000447467.2_Splice_Site_p.T372_splice|DYNC1I1_ENST00000359388.4_Splice_Site_p.T352_splice|DYNC1I1_ENST00000457059.1_Splice_Site_p.T372_splice|DYNC1I1_ENST00000437599.1_Splice_Site_p.T369_splice|DYNC1I1_ENST00000537881.1_Splice_Site_p.T352_splice	p.T389_splice	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		11	1359	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		389					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Splice_Site	SNP	ENST00000324972.6	37	c.1167_splice	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901329	0.52227	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.03	4.15	0.48705	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89458	0.6721	M	0.88181	2.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.996;0.95	D	0.91817	0.5464	10	0.87932	D	0	-7.5132	15.3555	0.74423	0.1406:0.8594:0.0:0.0	.	372;369;372;389;352	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	M	372;389;352;369;352;372	ENSP00000392337:T372M;ENSP00000320130:T389M;ENSP00000438377:T352M;ENSP00000398118:T369M;ENSP00000352348:T352M;ENSP00000412444:T372M	ENSP00000320130:T389M	T	+	2	0	DYNC1I1	95495568	1.000000	0.71417	0.888000	0.34837	0.005000	0.04900	7.651000	0.83577	1.484000	0.48361	-0.175000	0.13238	ACG		0.493	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	Missense_Mutation	24	55	0	0	0	1	0	24	55				
LAMB1	3912	broad.mit.edu	37	7	107616242	107616242	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:107616242C>T	ENST00000222399.6	-	10	1311	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	LAMB1_ENST00000393560.1_Missense_Mutation_p.V361M|LAMB1_ENST00000393561.1_Missense_Mutation_p.V385M	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	361	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCATCACACACGCCTCCGCTG	0.517																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(1153-1155)Gtg>Atg		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						133.0	116.0	122.0					7																	107616242		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107616242C>T	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.1081G>A	7.37:g.107616242C>T	ENSP00000222399:p.Val361Met					LAMB1_ENST00000222399.6_Missense_Mutation_p.V361M|LAMB1_ENST00000393560.1_Missense_Mutation_p.V361M	p.V385M			P07942	LAMB1_HUMAN			8	1337	-			361			Laminin EGF-like 2.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.1153G>A	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217687	0.95104	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.62364	0.03;0.03;0.03	5.31	5.31	0.75309	EGF-like, laminin (3);	.	.	.	.	D	0.83207	0.5204	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.99;0.997;0.987	D	0.85970	0.1476	9	0.87932	D	0	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	361;361;385	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	M	385;361;361	ENSP00000377191:V385M;ENSP00000222399:V361M;ENSP00000377190:V361M	ENSP00000222399:V361M	V	-	1	0	LAMB1	107403478	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.564000	0.82326	2.764000	0.94973	0.655000	0.94253	GTG		0.517	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		25	57	0	0	0	1	0	25	57				
KCNS3	3790	broad.mit.edu	37	2	18113040	18113040	+	Silent	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:18113040G>A	ENST00000403915.1	+	3	1216	c.765G>A	c.(763-765)ctG>ctA	p.L255L	KCNS3_ENST00000304101.4_Silent_p.L255L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	255					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAACCCTCTGAACATCATTG	0.512																																						ENST00000403915.1																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(763-765)ctG>ctA		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3							115.0	110.0	112.0					2																	18113040		2203	4300	6503	SO:0001819	synonymous_variant	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18113040G>A	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.765G>A	2.37:g.18113040G>A						KCNS3_ENST00000304101.4_Silent_p.L255L|KCNS3_ENST00000465292.1_Intron	p.L255L			Q9BQ31	KCNS3_HUMAN			3	1216	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		255					D6W520|O43651|Q4ZFY1|Q96B56	Silent	SNP	ENST00000403915.1	37	c.765G>A	CCDS1692.1																																																																																				0.512	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		37	51	0	0	0	1	0	37	51				
CENPA	1058	broad.mit.edu	37	2	27016113	27016113	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:27016113G>A	ENST00000335756.4	+	4	589	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CENPA_ENST00000233505.8_Missense_Mutation_p.R104Q|CENPA_ENST00000475662.1_3'UTR	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	130	H3-like.				CENP-A containing nucleosome assembly (GO:0034080)|establishment of mitotic spindle orientation (GO:0000132)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|protein localization to chromosome, centromeric region (GO:0071459)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|condensed chromosome inner kinetochore (GO:0000939)|condensed nuclear chromosome kinetochore (GO:0000778)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAACTGGCCCGGAGGATCCGG	0.552																																					Pancreas(28;769 878 30250 30578 41330)	ENST00000335756.4																			0				endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8						c.(388-390)cGg>cAg		centromere protein A							137.0	147.0	144.0					2																	27016113		2203	4300	6503	SO:0001583	missense	1058				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding	g.chr2:27016113G>A	U14518	CCDS1729.1, CCDS42662.1	2p23.3	2013-11-05	2006-06-16		ENSG00000115163	ENSG00000115163			1851	protein-coding gene	gene with protein product	"""centromere-specific histone"", ""histone H3-like centromeric protein A"""	117139	"""centromere protein A (17kD)"", ""centromere protein A, 17kDa"""				Standard	NM_001042426		Approved	CENP-A, CenH3	uc002rhr.3	P49450	OTTHUMG00000097073	ENST00000335756.4:c.389G>A	2.37:g.27016113G>A	ENSP00000336868:p.Arg130Gln					CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R104Q	p.R130Q	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN			4	589	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			H3-like.		D6W544|Q53T74|Q9BVW2	Missense_Mutation	SNP	ENST00000335756.4	37	c.389G>A	CCDS1729.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686658	0.88639	.	.	ENSG00000115163	ENST00000335756;ENST00000233505	T;T	0.70164	-0.46;-0.46	5.96	5.09	0.68999	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	M	0.85630	2.765	0.48135	D	0.999596	P;D	0.69078	0.917;0.997	B;P	0.51266	0.217;0.664	T	0.81525	-0.0893	10	0.87932	D	0	-12.8136	13.0805	0.59112	0.0774:0.0:0.9226:0.0	.	104;130	P49450-2;P49450	.;CENPA_HUMAN	Q	130;104	ENSP00000336868:R130Q;ENSP00000233505:R104Q	ENSP00000233505:R104Q	R	+	2	0	CENPA	26869617	1.000000	0.71417	0.999000	0.59377	0.653000	0.38743	7.299000	0.78831	1.536000	0.49237	0.650000	0.86243	CGG		0.552	CENPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214190.2	NM_001809		60	113	0	0	0	1	0	60	113				
ITPR1	3708	broad.mit.edu	37	3	4819013	4819013	+	Silent	SNP	C	C	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:4819013C>A	ENST00000443694.2	+	45	6201	c.6201C>A	c.(6199-6201)atC>atA	p.I2067I	ITPR1_ENST00000423119.2_Silent_p.I2034I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.I2067I|ITPR1_ENST00000302640.8_Silent_p.I2067I|ITPR1_ENST00000357086.4_Silent_p.I2034I|ITPR1_ENST00000456211.2_Silent_p.I2019I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2082					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TCAATGATATCAATCCTTTGG	0.423																																						ENST00000302640.8																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(6199-6201)atC>atA		inositol 1,4,5-trisphosphate receptor, type 1							83.0	81.0	82.0					3																	4819013		2091	4248	6339	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4819013C>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6201C>A	3.37:g.4819013C>A						ITPR1_ENST00000443694.2_Silent_p.I2067I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Silent_p.I2034I|ITPR1_ENST00000354582.6_Silent_p.I2067I|ITPR1_ENST00000456211.2_Silent_p.I2019I|ITPR1_ENST00000423119.2_Silent_p.I2034I	p.I2067I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	47	6551	+			2082					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.6201C>A	CCDS54551.1																																																																																				0.423	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		5	7	1	0	0.00198382	1	0.00200831	5	7				
G6PC2	57818	broad.mit.edu	37	2	169764413	169764413	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:169764413T>G	ENST00000375363.3	+	5	984	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	298					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCTGTGCCTTGACCTCATT	0.473																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(892-894)Ttg>Gtg		glucose-6-phosphatase, catalytic, 2							151.0	145.0	147.0					2																	169764413		2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169764413T>G	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.892T>G	2.37:g.169764413T>G	ENSP00000364512:p.Leu298Val					G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	p.L298V	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN			5	984	+			298					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.892T>G	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.746031	0.00669	.	.	ENSG00000152254	ENST00000375363	T	0.74842	-0.88	5.98	-10.9	0.00192	.	2.158970	0.01771	N	0.031185	T	0.39489	0.1080	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44406	-0.9330	10	0.02654	T	1	-16.562	4.3089	0.10960	0.2421:0.2488:0.419:0.0901	.	298	Q9NQR9	G6PC2_HUMAN	V	298	ENSP00000364512:L298V	ENSP00000364512:L298V	L	+	1	2	G6PC2	169472659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.019000	0.13444	-1.677000	0.01455	-1.137000	0.01932	TTG		0.473	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		37	70	0	0	0	1	0	37	70				
LAMA4	3910	broad.mit.edu	37	6	112469437	112469437	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:112469437G>C	ENST00000230538.7	-	18	2672	c.2275C>G	c.(2275-2277)Cta>Gta	p.L759V	LAMA4_ENST00000522006.1_Missense_Mutation_p.L752V|LAMA4_ENST00000389463.4_Missense_Mutation_p.L752V|LAMA4_ENST00000424408.2_Missense_Mutation_p.L752V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2275-2277)Cta>Gta		laminin, alpha 4							124.0	117.0	119.0					6																	112469437		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112469437G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2275C>G	6.37:g.112469437G>C	ENSP00000230538:p.Leu759Val					LAMA4_ENST00000389463.4_Missense_Mutation_p.L752V|LAMA4_ENST00000424408.2_Missense_Mutation_p.L752V|LAMA4_ENST00000522006.1_Missense_Mutation_p.L752V	p.L759V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	18	2672	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	759			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2275C>G	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	2.560	-0.302062	0.05495	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.39	0.0397	0.14206	Laminin II (1);	0.397619	0.26847	N	0.022195	T	0.07593	0.0191	N	0.12746	0.255	0.19945	N	0.999949	B;B	0.10296	0.003;0.002	B;B	0.14578	0.011;0.006	T	0.41233	-0.9520	10	0.07813	T	0.8	.	8.3926	0.32537	0.0719:0.564:0.2552:0.1089	.	759;752	Q16363;Q16363-2	LAMA4_HUMAN;.	V	759;752;752;752	ENSP00000230538:L759V;ENSP00000429488:L752V;ENSP00000374114:L752V;ENSP00000416470:L752V	ENSP00000230538:L759V	L	-	1	2	LAMA4	112576130	0.017000	0.18338	0.005000	0.12908	0.162000	0.22319	-0.044000	0.12023	0.050000	0.15949	0.655000	0.94253	CTA		0.517	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	7	0	0	0	1	0	26	7				
TUBA8	51807	broad.mit.edu	37	22	18604328	18604328	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr22:18604328G>A	ENST00000330423.3	+	2	159	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	29					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTGGAACACGGCATCCAGGCA	0.552																																						ENST00000330423.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						c.(85-87)gGc>gAc		tubulin, alpha 8							85.0	76.0	79.0					22																	18604328		2203	4300	6503	SO:0001583	missense	51807				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr22:18604328G>A	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.86G>A	22.37:g.18604328G>A	ENSP00000333326:p.Gly29Asp					TUBA8_ENST00000316027.6_5'UTR	p.G29D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN			2	159	+			29					B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	37	c.86G>A	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792026	0.50102	.	.	ENSG00000183785	ENST00000330423;ENST00000416740	T;T	0.70869	-0.52;-0.52	5.06	5.06	0.68205	Tubulin/FtsZ, GTPase domain (3);	0.219066	0.47455	D	0.000232	D	0.87301	0.6143	H	0.95470	3.675	0.58432	D	0.999998	B;D;P	0.55385	0.448;0.971;0.591	B;P;B	0.58172	0.35;0.834;0.213	D	0.91167	0.4965	10	0.72032	D	0.01	.	17.7806	0.88522	0.0:0.0:1.0:0.0	.	53;29;28	C9J2C0;Q9NY65;Q7Z3M3	.;TBA8_HUMAN;.	D	29;53	ENSP00000333326:G29D;ENSP00000412646:G53D	ENSP00000333326:G29D	G	+	2	0	TUBA8	16984328	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	7.923000	0.87546	2.509000	0.84616	0.561000	0.74099	GGC		0.552	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943		3	40	0	0	0	1	0	3	40				
VSX1	30813	broad.mit.edu	37	20	25057044	25057044	+	Silent	SNP	A	A	C			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:25057044A>C	ENST00000376709.4	-	5	1214	c.951T>G	c.(949-951)ccT>ccG	p.P317P	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	317					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCCATTCTCAGGGCTCACTT	0.542																																						ENST00000376709.4																			0				central_nervous_system(1)|large_intestine(3)|lung(2)	6						c.(949-951)ccT>ccG		visual system homeobox 1							98.0	98.0	98.0					20																	25057044		2203	4300	6503	SO:0001819	synonymous_variant	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25057044A>C	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.951T>G	20.37:g.25057044A>C						VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000444511.2_Intron	p.P317P	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN			5	1214	-			317					B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	c.951T>G	CCDS13168.1																																																																																				0.542	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			31	58	0	0	0	1	0	31	58				
MYO5A	4644	broad.mit.edu	37	15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:52622646G>A	ENST00000399231.3	-	34	4627	c.4384C>T	c.(4384-4386)Cga>Tga	p.R1462*	MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1435*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1487*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1459*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1460*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.R1462R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413																																						ENST00000399231.3																			1	Substitution - coding silent(1)	p.R1462R(1)	lung(1)	breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(4384-4386)Cga>Tga		myosin VA (heavy chain 12, myoxin)							173.0	160.0	164.0					15																	52622646		1856	4085	5941	SO:0001587	stop_gained	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52622646G>A		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4384C>T	15.37:g.52622646G>A	ENSP00000382177:p.Arg1462*					MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1435*|MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1460*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1487*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1459*	p.R1462*	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	34	4627	-			1462					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	ENST00000399231.3	37	c.4384C>T	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	44	10.936510	0.99491	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	.	.	.	5.45	5.45	0.79879	.	0.169778	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2717	0.94013	0.0:0.0:1.0:0.0	.	.	.	.	X	1462;969;1459;1435;1487;1065;1460	.	ENSP00000348693:R1435X	R	-	1	2	MYO5A	50409938	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.531000	0.67148	2.559000	0.86315	0.557000	0.71058	CGA		0.413	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		56	71	0	0	0	1	0	56	71				
GREB1	9687	broad.mit.edu	37	2	11725320	11725320	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:11725320G>A	ENST00000381486.2	+	8	1235	c.935G>A	c.(934-936)cGc>cAc	p.R312H	RN7SL674P_ENST00000463397.2_RNA|GREB1_ENST00000263834.5_Missense_Mutation_p.R312H|GREB1_ENST00000381483.2_Missense_Mutation_p.R312H|GREB1_ENST00000234142.5_Missense_Mutation_p.R312H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	312						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAAAAAACGCCACAAAGGG	0.512																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(934-936)cGc>cAc		growth regulation by estrogen in breast cancer 1							61.0	60.0	60.0					2																	11725320		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11725320G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.935G>A	2.37:g.11725320G>A	ENSP00000370896:p.Arg312His					GREB1_ENST00000381483.2_Missense_Mutation_p.R312H|GREB1_ENST00000263834.5_Missense_Mutation_p.R312H|GREB1_ENST00000234142.5_Missense_Mutation_p.R312H	p.R312H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	8	1235	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		312					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.935G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	35	5.481916	0.96307	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.39787	2.65;1.06;1.63;2.65	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.72625	0.978;0.942;0.938	T	0.69540	-0.5118	10	0.87932	D	0	-19.7891	19.5784	0.95453	0.0:0.0:1.0:0.0	.	312;312;312	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	H	312	ENSP00000370896:R312H;ENSP00000263834:R312H;ENSP00000370892:R312H;ENSP00000234142:R312H	ENSP00000234142:R312H	R	+	2	0	GREB1	11642771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.511000	0.90535	2.631000	0.89168	0.643000	0.83706	CGC		0.512	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		14	11	0	0	0	1	0	14	11				
USH2A	7399	broad.mit.edu	37	1	216251647	216251647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:216251647G>A	ENST00000307340.3	-	27	5742	c.5356C>T	c.(5356-5358)Caa>Taa	p.Q1786*	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q1786*|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1786	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCCACTTGTGTAAAGGCA	0.348										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5356-5358)Caa>Taa		Usher syndrome 2A (autosomal recessive, mild)							228.0	248.0	241.0					1																	216251647		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251647G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5356C>T	1.37:g.216251647G>A	ENSP00000305941:p.Gln1786*	HNSCC(13;0.011)				RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q1786*|RP11-22M7.2_ENST00000446411.1_RNA	p.Q1786*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5742	-			1786			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.5356C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	48	14.895176	0.99814	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.58	4.61	0.57282	.	0.388659	0.19061	N	0.123777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	15.9316	0.79663	0.0:0.1351:0.8649:0.0	.	.	.	.	X	1786	.	ENSP00000305941:Q1786X	Q	-	1	0	USH2A	214318270	0.970000	0.33590	0.101000	0.21167	0.921000	0.55340	2.428000	0.44749	2.638000	0.89438	0.650000	0.86243	CAA		0.348	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		119	169	0	0	0	1	0	119	169				
MUC5B	727897	broad.mit.edu	37	11	1271606	1271606	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:1271606C>T	ENST00000529681.1	+	31	13554	c.13496C>T	c.(13495-13497)tCc>tTc	p.S4499F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4502F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13504-13506)tCc>tTc		mucin 5B, oligomeric mucus/gel-forming							164.0	207.0	192.0					11																	1271606		2187	4266	6453	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271606C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13496C>T	11.37:g.1271606C>T	ENSP00000436812:p.Ser4499Phe					MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499F	p.S4502F			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13563	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4499			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13505C>T	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	4.809	0.150374	0.09185	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18174	2.23;2.4	1.84	1.84	0.25277	.	.	.	.	.	T	0.13798	0.0334	L	0.58810	1.83	0.22266	N	0.999242	D;D	0.54964	0.969;0.969	B;B	0.34991	0.193;0.193	T	0.22243	-1.0222	9	0.87932	D	0	.	7.6533	0.28360	0.0:1.0:0.0:0.0	.	4972;4502	A7Y9J9;E9PBJ0	.;.	F	4499;4502;4443;4349;278	ENSP00000436812:S4499F;ENSP00000415793:S4502F	ENSP00000343037:S4443F	S	+	2	0	MUC5B	1228182	0.001000	0.12720	0.011000	0.14972	0.162000	0.22319	0.667000	0.25112	0.966000	0.38159	0.298000	0.19748	TCC		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		58	86	0	0	0	1	0	58	86				
HLA-DMB	3109	broad.mit.edu	37	6	32906668	32906668	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:32906668T>G	ENST00000418107.2	-	2	392	c.130A>C	c.(130-132)Atc>Ctc	p.I44L	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.I44L|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.I76L|AL645941.1_ENST00000390777.1_RNA	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	44	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGAAGGAGATGCAGTATGTG	0.527																																						ENST00000416244.2																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(130-132)Atc>Ctc		major histocompatibility complex, class II, DM beta							121.0	130.0	127.0					6																	32906668		1510	2709	4219	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32906668T>G		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.130A>C	6.37:g.32906668T>G	ENSP00000398890:p.Ile44Leu					XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.I76L|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.I44L	p.I44L			P28068	DMB_HUMAN			2	324	-			44			Beta-1.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.130A>C	CCDS4760.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629464	0.28978	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.18016	2.24;2.24;2.24	5.07	-6.92	0.01644	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.949699	0.08751	N	0.899155	T	0.05686	0.0149	L	0.53249	1.67	0.09310	N	1	B;B;B	0.29085	0.001;0.003;0.232	B;B;B	0.29942	0.016;0.036;0.109	T	0.12293	-1.0553	9	.	.	.	.	13.766	0.62995	0.0:0.6461:0.0:0.3539	.	44;44;53	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	L	44;44;44;76	ENSP00000398890:I44L;ENSP00000391010:I44L;ENSP00000412457:I76L	.	I	-	1	0	XXbac-BPG181M17.5;HLA-DMB	33014646	0.000000	0.05858	0.009000	0.14445	0.866000	0.49608	-1.940000	0.01543	-1.464000	0.01902	0.519000	0.50382	ATC		0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		21	50	0	0	0	1	0	21	50				
SLC1A7	6512	broad.mit.edu	37	1	53553886	53553886	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:53553886C>T	ENST00000371494.4	-	11	1605	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	SLC1A7_ENST00000488036.1_5'UTR|RP11-334A14.5_ENST00000447867.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	493					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CTTGGTCTCGCAGGGCAGCAG	0.607																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(1477-1479)tGc>tAc		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						29.0	26.0	27.0					1																	53553886		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53553886C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.1478G>A	1.37:g.53553886C>T	ENSP00000360549:p.Cys493Tyr					SLC1A7_ENST00000488036.1_5'UTR	p.C493Y	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	11	1605	-			493					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.1478G>A	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988775	0.53934	.	.	ENSG00000162383	ENST00000371494	T	0.52295	0.67	5.76	1.47	0.22746	.	0.782604	0.12359	N	0.475839	T	0.35128	0.0921	L	0.34521	1.04	0.80722	D	1	B;P	0.49253	0.002;0.921	B;B	0.40940	0.017;0.344	T	0.11717	-1.0576	10	0.54805	T	0.06	8.8821	9.2269	0.37412	0.4048:0.5286:0.0:0.0666	.	493;146	O00341;B3KSM4	EAA5_HUMAN;.	Y	493	ENSP00000360549:C493Y	ENSP00000360549:C493Y	C	-	2	0	SLC1A7	53326474	0.920000	0.31207	0.016000	0.15963	0.800000	0.45204	1.878000	0.39608	0.308000	0.22923	-0.169000	0.13324	TGC		0.607	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		5	11	0	0	0	1	0	5	11				
TMEM180	79847	broad.mit.edu	37	10	104233397	104233397	+	Silent	SNP	C	C	T	rs201561138		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:104233397C>T	ENST00000238936.4	+	8	1233	c.996C>T	c.(994-996)taC>taT	p.Y332Y	TMEM180_ENST00000366277.2_Silent_p.Y61Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	332						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCGTCTACGCGGTGGTGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17825	0.001		0.0	False		,,,				2504	0.0					ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(994-996)taC>taT		transmembrane protein 180							129.0	129.0	129.0					10																	104233397		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104233397C>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.996C>T	10.37:g.104233397C>T						TMEM180_ENST00000366277.2_Silent_p.Y61Y	p.Y332Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1233	+		Colorectal(252;0.122)	332					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.996C>T	CCDS7535.1																																																																																				0.637	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		31	17	0	0	0	1	0	31	17				
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	rs9333651|rs138364213		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:201047161G>A	ENST00000362061.3	-	11	1691	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	489					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(1465-1467)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	125.0	131.0		1465	4.8	1.0	1	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense	CACNA1S	NM_000069.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	489/1874	201047161	3,13003	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047161G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1465C>T	1.37:g.201047161G>A	ENSP00000355192:p.Arg489Cys					CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			11	1691	-			489					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1465C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677340	0.88445	2.27E-4	2.33E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97791	-4.54;-4.54	4.78	4.78	0.61160	Ion transport (1);	0.220694	0.47093	D	0.000247	D	0.98369	0.9458	M	0.76938	2.355	0.51233	D	0.999917	D	0.65815	0.995	P	0.59761	0.863	D	0.99612	1.0981	10	0.87932	D	0	.	18.141	0.89639	0.0:0.0:1.0:0.0	.	489	Q13698	CAC1S_HUMAN	C	489	ENSP00000355192:R489C;ENSP00000356307:R489C	ENSP00000355192:R489C	R	-	1	0	CACNA1S	199313784	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.331000	0.65905	2.351000	0.79841	0.643000	0.83706	CGC		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		24	37	0	0	0	1	0	24	37				
PDE2A	5138	broad.mit.edu	37	11	72289381	72289381	+	Silent	SNP	C	C	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:72289381C>T	ENST00000334456.5	-	30	2756	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	PDE2A_ENST00000418754.2_Silent_p.E722E|PDE2A_ENST00000540345.1_Silent_p.E828E|PDE2A_ENST00000376450.3_Silent_p.E581E|PDE2A_ENST00000444035.2_Silent_p.E828E|PDE2A_ENST00000544570.1_Silent_p.E830E	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	837	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCATGGCCTTCTCCTGCAGGC	0.582																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2509-2511)gaG>gaA		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						162.0	129.0	140.0					11																	72289381		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72289381C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2511G>A	11.37:g.72289381C>T						PDE2A_ENST00000540345.1_Silent_p.E828E|PDE2A_ENST00000544570.1_Silent_p.E830E|PDE2A_ENST00000444035.2_Silent_p.E828E|PDE2A_ENST00000418754.2_Silent_p.E722E|PDE2A_ENST00000376450.3_Silent_p.E581E	p.E837E	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		30	2756	-			837			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2511G>A	CCDS8216.1																																																																																				0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		26	37	0	0	0	1	0	26	37				
NLRP9	338321	broad.mit.edu	37	19	56244617	56244617	+	Missense_Mutation	SNP	C	C	T	rs373989650		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:56244617C>T	ENST00000332836.2	-	2	607	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	194	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(580-582)Gca>Aca		NLR family, pyrin domain containing 9							49.0	40.0	43.0					19																	56244617		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56244617C>T	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.580G>A	19.37:g.56244617C>T	ENSP00000331857:p.Ala194Thr						p.A194T	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	607	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	194			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.580G>A	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.779922	0.00634	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.78246	-1.16	2.63	-5.25	0.02781	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.43188	0.1236	N	0.00611	-1.325	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48399	-0.9039	9	0.08599	T	0.76	.	15.4742	0.75465	0.0:0.8282:0.0:0.1718	.	194	Q7RTR0	NALP9_HUMAN	T	194	ENSP00000331857:A194T	ENSP00000331857:A194T	A	-	1	0	NLRP9	60936429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.472000	0.06623	-1.535000	0.01740	-1.235000	0.01560	GCA		0.453	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		4	30	0	0	0	1	0	4	30				
FAM47B	170062	broad.mit.edu	37	X	34961315	34961315	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:34961315G>T	ENST00000329357.5	+	1	403	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	123										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGTGGAAGCCCAGCTGAT	0.537																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(367-369)Gcc>Tcc		family with sequence similarity 47, member B							98.0	86.0	90.0					X																	34961315		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961315G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.367G>T	X.37:g.34961315G>T	ENSP00000328307:p.Ala123Ser						p.A123S	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	403	+			123					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.367G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012428	0.19277	.	.	ENSG00000189132	ENST00000329357	T	0.19669	2.13	0.843	0.843	0.18935	.	.	.	.	.	T	0.35335	0.0928	M	0.80422	2.495	0.09310	N	1	D	0.56287	0.975	P	0.53861	0.736	T	0.12243	-1.0555	9	0.51188	T	0.08	.	7.2872	0.26346	1.0E-4:0.0:0.9999:0.0	.	123	Q8NA70	FA47B_HUMAN	S	123	ENSP00000328307:A123S	ENSP00000328307:A123S	A	+	1	0	FAM47B	34871236	0.012000	0.17670	0.002000	0.10522	0.009000	0.06853	-0.236000	0.09003	0.695000	0.31675	0.292000	0.19580	GCC		0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		28	18	1	0	6.04164e-23	1	6.35147e-23	28	18				
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:35820491A>T	ENST00000399989.1	+	2	457	c.178A>T	c.(178-180)Agt>Tgt	p.S60C	MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532																																						ENST00000399989.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(178-180)Agt>Tgt		melanoma antigen family B, 16							46.0	44.0	45.0					X																	35820491		1955	4120	6075	SO:0001583	missense	139604							g.chrX:35820491A>T		CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.178A>T	X.37:g.35820491A>T	ENSP00000382871:p.Ser60Cys					MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92C|MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60C	p.S60C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN			2	457	+			60					A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	c.178A>T	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	A	9.153	1.016698	0.19355	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23	3.13	1.92	0.25849	Melanoma associated antigen, MAGE, N-terminal (1);	2.483160	0.01875	N	0.037471	T	0.12646	0.0307	L	0.37750	1.13	0.09310	N	1	B	0.33807	0.426	B	0.43301	0.415	T	0.32428	-0.9907	10	0.56958	D	0.05	.	5.7376	0.18075	0.7239:0.2761:0.0:0.0	.	60	A2A368	MAGBG_HUMAN	C	60;92;60;60;60	ENSP00000382870:S60C;ENSP00000382874:S92C;ENSP00000382869:S60C;ENSP00000382871:S60C;ENSP00000382867:S60C	ENSP00000382867:S60C	S	+	1	0	MAGEB16	35730412	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.012000	0.12699	0.444000	0.26612	0.423000	0.28283	AGT		0.532	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			9	1	0	0	0	1	0	9	1				
SEC23B	10483	broad.mit.edu	37	20	18516372	18516372	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:18516372G>T	ENST00000336714.3	+	12	1822	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	SEC23B_ENST00000377475.3_Nonsense_Mutation_p.E464*|SEC23B_ENST00000262544.2_Nonsense_Mutation_p.E464*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.E464*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	464					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATCTATTTTGAAGTTGTCAA	0.433																																						ENST00000336714.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(1390-1392)Gaa>Taa		Sec23 homolog B (S. cerevisiae)							224.0	176.0	192.0					20																	18516372		2203	4300	6503	SO:0001587	stop_gained	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18516372G>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.1390G>T	20.37:g.18516372G>T	ENSP00000338844:p.Glu464*					SEC23B_ENST00000377475.3_Nonsense_Mutation_p.E464*|SEC23B_ENST00000262544.2_Nonsense_Mutation_p.E464*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.E464*	p.E464*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN			12	1822	+			464					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Nonsense_Mutation	SNP	ENST00000336714.3	37	c.1390G>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	43	9.874152	0.99285	.	.	ENSG00000101310	ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.973	17.9887	0.89162	0.0:0.0:1.0:0.0	.	.	.	.	X	464	.	ENSP00000262544:E464X	E	+	1	0	SEC23B	18464372	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.601000	0.98297	2.788000	0.95919	0.650000	0.86243	GAA		0.433	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			3	26	1	0	1	1	1	3	26				
GRIA1	2890	broad.mit.edu	37	5	153056693	153056693	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:153056693G>A	ENST00000285900.5	+	7	1344	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	GRIA1_ENST00000518142.1_Missense_Mutation_p.G254E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G344E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G334E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G265E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G344E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	334					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGGGGCCAAGGGATCGACATC	0.537																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1000-1002)gGg>gAg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						51.0	49.0	50.0					5																	153056693		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056693G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1001G>A	5.37:g.153056693G>A	ENSP00000285900:p.Gly334Glu					GRIA1_ENST00000521843.2_Missense_Mutation_p.G265E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G334E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G344E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G254E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G344E	p.G334E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1344	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	334					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1001G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926695	0.73327	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.56	5.56	0.83823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94801	0.8321	M	0.79805	2.47	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95138	0.8261	10	0.87932	D	0	.	18.5007	0.90879	0.0:0.0:1.0:0.0	.	344;344;254;344;334;334	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	E	334;334;254;288;334;265;265;344;344	ENSP00000285900:G334E;ENSP00000427920:G254E;ENSP00000339343:G334E;ENSP00000427864:G265E;ENSP00000442108:G265E;ENSP00000428994:G344E;ENSP00000415569:G344E	ENSP00000285900:G334E	G	+	2	0	GRIA1	153036886	1.000000	0.71417	0.541000	0.28102	0.310000	0.27922	9.506000	0.97992	2.595000	0.87683	0.655000	0.94253	GGG		0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			5	15	0	0	0	1	0	5	15				
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	rs149542398	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:33031888C>T	ENST00000070846.6	-	2	326	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_ENST00000340811.4_Missense_Mutation_p.R101H	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	101					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378																																						ENST00000340811.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(301-303)cGt>cAt		plakophilin 2		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	92.0	93.0		302,302	0.7	0.0	12	dbSNP_134	93	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	PKP2	NM_001005242.2,NM_004572.3	29,29	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	possibly-damaging,possibly-damaging	101/838,101/882	33031888	5,13001	2203	4300	6503	SO:0001583	missense	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:33031888C>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.302G>A	12.37:g.33031888C>T	ENSP00000070846:p.Arg101His					PKP2_ENST00000070846.6_Missense_Mutation_p.R101H	p.R101H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN			2	410	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		101					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	ENST00000070846.6	37	c.302G>A	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893267	0.52121	2.27E-4	4.65E-4	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.80994	-1.44;-1.4	5.7	0.708	0.18144	.	1.351310	0.04721	N	0.419289	T	0.71434	0.3339	L	0.47716	1.5	0.09310	N	1	B;B;B	0.18013	0.025;0.014;0.014	B;B;B	0.10450	0.005;0.002;0.003	T	0.52351	-0.8587	10	0.37606	T	0.19	-0.1096	1.4068	0.02283	0.1432:0.4165:0.1395:0.3008	.	101;101;101	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	H	101	ENSP00000342800:R101H;ENSP00000070846:R101H	ENSP00000070846:R101H	R	-	2	0	PKP2	32923155	0.000000	0.05858	0.004000	0.12327	0.872000	0.50106	-0.209000	0.09358	0.334000	0.23590	0.650000	0.86243	CGT		0.378	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		4	64	0	0	0	1	0	4	64				
PCDH12	51294	broad.mit.edu	37	5	141335542	141335542	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141335542A>T	ENST00000231484.3	-	1	3085	c.1875T>A	c.(1873-1875)gaT>gaA	p.D625E	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	625	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTCTGCATCTCTTGCCA	0.582																																						ENST00000231484.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38						c.(1873-1875)gaT>gaA		protocadherin 12							74.0	69.0	71.0					5																	141335542		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141335542A>T	AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.1875T>A	5.37:g.141335542A>T	ENSP00000231484:p.Asp625Glu						p.D625E	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	3085	-		all_hematologic(541;0.0999)	625			Cadherin 6.		Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1875T>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.752033	0.49362	.	.	ENSG00000113555	ENST00000231484	D	0.89746	-2.56	5.38	-5.76	0.02376	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95636	0.8581	H	0.98525	4.255	0.39669	D	0.970733	D	0.89917	1.0	D	0.87578	0.998	D	0.94479	0.7691	10	0.87932	D	0	.	13.7124	0.62675	0.4394:0.0:0.5606:0.0	.	625	Q9NPG4	PCD12_HUMAN	E	625	ENSP00000231484:D625E	ENSP00000231484:D625E	D	-	3	2	PCDH12	141315726	1.000000	0.71417	0.802000	0.32245	0.244000	0.25665	1.321000	0.33678	-1.227000	0.02571	-0.242000	0.12053	GAT		0.582	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		9	15	0	0	0	1	0	9	15				
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		2	4						2	4	---	---	---	---
