#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
GAD2	2572	broad.mit.edu	37	10	26581861	26581861	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:26581861A>T	ENST00000376261.3	+	15	2028	c.1525A>T	c.(1525-1527)Att>Ttt	p.I509F	GAD2_ENST00000259271.3_Missense_Mutation_p.I509F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	509					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCTGGTACATTCCTCCAAG	0.453																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1525-1527)Att>Ttt		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						230.0	231.0	231.0					10																	26581861		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26581861A>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1525A>T	10.37:g.26581861A>T	ENSP00000365437:p.Ile509Phe					GAD2_ENST00000259271.3_Missense_Mutation_p.I509F	p.I509F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			15	2028	+			509					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.1525A>T	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	A	8.693	0.907828	0.17833	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.38887	1.11;1.11	4.92	-0.929	0.10444	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.388553	0.28187	N	0.016276	T	0.33962	0.0881	M	0.64170	1.965	0.39710	D	0.971313	B	0.18610	0.029	B	0.18561	0.022	T	0.13150	-1.0520	10	0.56958	D	0.05	-5.9984	6.3064	0.21141	0.5229:0.1333:0.3437:0.0	.	509	Q05329	DCE2_HUMAN	F	509	ENSP00000365437:I509F;ENSP00000259271:I509F	ENSP00000259271:I509F	I	+	1	0	GAD2	26621867	0.221000	0.23642	0.001000	0.08648	0.240000	0.25518	0.713000	0.25794	-0.022000	0.13986	-0.912000	0.02778	ATT		0.453	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		71	96	0	0	0	1	0	71	96				
MEFV	4210	broad.mit.edu	37	16	3306350	3306350	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:3306350G>A	ENST00000219596.1	-	1	277	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	MEFV_ENST00000541159.1_Missense_Mutation_p.R80C|MEFV_ENST00000339854.4_Missense_Mutation_p.R80C|MEFV_ENST00000536379.1_Missense_Mutation_p.R80C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	80	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GCCAGCAGGCGCTGGTTGATG	0.642																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(238-240)Cgc>Tgc		Mediterranean fever	Colchicine(DB01394)						31.0	33.0	33.0					16																	3306350		2197	4298	6495	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306350G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.238C>T	16.37:g.3306350G>A	ENSP00000219596:p.Arg80Cys					MEFV_ENST00000541159.1_Missense_Mutation_p.R80C|MEFV_ENST00000339854.4_Missense_Mutation_p.R80C|MEFV_ENST00000536379.1_Missense_Mutation_p.R80C	p.R80C	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	277	-			80			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.238C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257300	0.59321	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.98	-0.459	0.12179	Pyrin (2);DEATH-like (2);	0.874589	0.09830	N	0.750314	T	0.56366	0.1980	L	0.57536	1.79	0.18873	N	0.999983	D	0.89917	1.0	D	0.64506	0.926	T	0.45498	-0.9257	10	0.87932	D	0	-37.8531	4.6656	0.12664	0.0769:0.1072:0.396:0.4199	.	80	O15553	MEFV_HUMAN	C	80	ENSP00000219596:R80C;ENSP00000339639:R80C;ENSP00000438711:R80C;ENSP00000445079:R80C	ENSP00000219596:R80C	R	-	1	0	MEFV	3246351	0.356000	0.24930	0.654000	0.29608	0.737000	0.42083	0.350000	0.20079	0.052000	0.16007	0.591000	0.81541	CGC		0.642	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	24	0	0	0	1	0	4	24				
SAA2	6289	broad.mit.edu	37	11	18266952	18266952	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:18266952C>T	ENST00000526900.1	-	4	524	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SAA2_ENST00000529528.1_Missense_Mutation_p.R114Q|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000256733.4_Missense_Mutation_p.R114Q|SAA2-SAA4_ENST00000524555.1_RNA			P0DJI9	SAA2_HUMAN	serum amyloid A2	114					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAGCAGGTCGGAAGTGATT	0.577																																						ENST00000526900.1																			0				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(340-342)cGa>cAa		serum amyloid A2							99.0	89.0	92.0					11																	18266952		2199	4293	6492	SO:0001583	missense	6289							g.chr11:18266952C>T	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.341G>A	11.37:g.18266952C>T	ENSP00000436126:p.Arg114Gln					SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.R114Q|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000256733.4_Missense_Mutation_p.R114Q	p.R114Q							4	524	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.341G>A	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536467	0.85812	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.20200	2.09;2.09;2.09	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.39517	0.1081	.	.	.	0.33946	D	0.643867	.	.	.	.	.	.	T	0.55289	-0.8164	7	0.87932	D	0	.	15.4329	0.75116	0.0:1.0:0.0:0.0	.	.	.	.	Q	114	ENSP00000256733:R114Q;ENSP00000437162:R114Q;ENSP00000436126:R114Q	ENSP00000256733:R114Q	R	-	2	0	SAA2	18223528	0.990000	0.36364	0.729000	0.30791	0.752000	0.42762	5.045000	0.64220	2.511000	0.84671	0.650000	0.86243	CGA		0.577	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		7	41	0	0	0	1	0	7	41				
PCDHGA12	26025	broad.mit.edu	37	5	140812194	140812194	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:140812194C>T	ENST00000252085.3	+	1	2010	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	623	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTGCACACGGGCGAGGTG	0.692																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1867-1869)aCg>aTg									28.0	35.0	33.0					5																	140812194		2180	4246	6426	SO:0001583	missense	0							g.chr5:140812194C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1868C>T	5.37:g.140812194C>T	ENSP00000252085:p.Thr623Met					PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron	p.T623M	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2010	+								O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.1868C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.814996	0.50527	.	.	ENSG00000253159	ENST00000252085	T	0.58060	0.36	5.06	4.13	0.48395	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.79299	0.4422	H	0.95712	3.71	0.25822	N	0.984277	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.71981	-0.4428	9	0.87932	D	0	.	11.9999	0.53224	0.1316:0.7402:0.1282:0.0	.	623;623	O60330-2;O60330	.;PCDGC_HUMAN	M	623	ENSP00000252085:T623M	ENSP00000252085:T623M	T	+	2	0	PCDHGA12	140792378	0.000000	0.05858	0.974000	0.42286	0.862000	0.49288	-0.607000	0.05648	2.515000	0.84797	0.556000	0.70494	ACG		0.692	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		4	65	0	0	0	1	0	4	65				
ZNF276	92822	broad.mit.edu	37	16	89789911	89789911	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:89789911C>T	ENST00000443381.2	+	4	897	c.800C>T	c.(799-801)aCg>aTg	p.T267M	ZNF276_ENST00000446326.2_Missense_Mutation_p.R64W|ZNF276_ENST00000289816.5_Missense_Mutation_p.T192M|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.R186W	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GACAAAGAGACGGCGCCACGG	0.647																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(574-576)aCg>aTg		zinc finger protein 276																																				SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89789911C>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.800C>T	16.37:g.89789911C>T	ENSP00000415836:p.Thr267Met					ZNF276_ENST00000446326.2_Missense_Mutation_p.R64W|ZNF276_ENST00000443381.2_Missense_Mutation_p.T267M|ZNF276_ENST00000568064.1_Missense_Mutation_p.R186W	p.T192M	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	4	887	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	267					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.575C>T	CCDS45554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.930|3.930	-0.016440|-0.016440	0.07681|0.07681	.|.	.|.	ENSG00000158805|ENSG00000158805	ENST00000446326|ENST00000289816;ENST00000443381	T|T;T	0.06768|0.05855	3.26|3.38;3.44	5.42|5.42	-3.11|-3.11	0.05299|0.05299	.|.	.|1.301590	.|0.04820	.|N	.|0.436803	T|T	0.05090|0.05090	0.0136|0.0136	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B|B;B	0.09022|0.21309	0.002|0.017;0.054	B|B;B	0.01281|0.09377	0.0|0.004;0.003	T|T	0.42481|0.42481	-0.9449|-0.9449	9|10	0.87932|0.30078	D|T	0|0.28	0.1656|0.1656	7.4899|7.4899	0.27456|0.27456	0.0:0.3435:0.1176:0.5388|0.0:0.3435:0.1176:0.5388	.|.	64|105;267	A8K186|B4DIT3;Q8N554	.|.;ZN276_HUMAN	W|M	64|192;267	ENSP00000415999:R64W|ENSP00000289816:T192M;ENSP00000415836:T267M	ENSP00000415999:R64W|ENSP00000289816:T192M	R|T	+|+	1|2	2|0	ZNF276|ZNF276	88317412|88317412	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.380000|0.380000	0.30137|0.30137	-0.685000|-0.685000	0.05167|0.05167	-0.944000|-0.944000	0.03686|0.03686	0.561000|0.561000	0.74099|0.74099	CGG|ACG		0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		7	10	0	0	0	1	0	7	10				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	40	0	0	0	1	0	3	40				
ZNHIT2	741	broad.mit.edu	37	11	64884693	64884693	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:64884693T>G	ENST00000310597.4	-	1	477	c.433A>C	c.(433-435)Aat>Cat	p.N145H	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	145							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCCGGGGCATTATCCAGCTCC	0.736																																						ENST00000310597.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						c.(433-435)Aat>Cat		zinc finger, HIT-type containing 2							10.0	14.0	12.0					11																	64884693		2065	4079	6144	SO:0001583	missense	741						metal ion binding	g.chr11:64884693T>G		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.433A>C	11.37:g.64884693T>G	ENSP00000308548:p.Asn145His					AP003068.12_ENST00000527789.1_RNA	p.N145H	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN			1	477	-			145					Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	c.433A>C	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	T	1.768	-0.484985	0.04352	.	.	ENSG00000174276	ENST00000310597	T	0.30448	1.53	3.7	1.76	0.24704	.	1.266200	0.05363	U	0.533995	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	10	0.34782	T	0.22	-2.183	5.8634	0.18760	0.0:0.5117:0.3773:0.111	.	145	Q9UHR6	ZNHI2_HUMAN	H	145	ENSP00000308548:N145H	ENSP00000308548:N145H	N	-	1	0	ZNHIT2	64641269	0.000000	0.05858	0.025000	0.17156	0.068000	0.16541	0.432000	0.21461	0.249000	0.21456	-0.232000	0.12228	AAT		0.736	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205		3	10	0	0	0	1	0	3	10				
ACY3	91703	broad.mit.edu	37	11	67410243	67410243	+	Silent	SNP	G	G	A	rs145815101	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:67410243G>A	ENST00000255082.3	-	8	1082	c.912C>T	c.(910-912)acC>acT	p.T304T	ACY3_ENST00000529256.1_Silent_p.T183T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	304	Shielding domain. {ECO:0000250}.				viral process (GO:0016032)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	TGGCAGGCACGGTGAATGTGA	0.577													G|||	8	0.00159744	0.0	0.0	5008	,	,		19722	0.0		0.001	False		,,,				2504	0.0072				GBM(56;346 1011 27014 29495 46841)	ENST00000255082.3																			0				endometrium(1)|lung(5)|prostate(2)	8						c.(910-912)acC>acT		aspartoacylase (aminocyclase) 3	L-Aspartic Acid(DB00128)	G		0,4400		0,0,2200	120.0	103.0	109.0		912	-8.2	0.0	11	dbSNP_134	109	7,8581	5.0+/-18.6	0,7,4287	no	coding-synonymous	ACY3	NM_080658.1		0,7,6487	AA,AG,GG		0.0815,0.0,0.0539		304/320	67410243	7,12981	2200	4294	6494	SO:0001819	synonymous_variant	91703				interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	g.chr11:67410243G>A	BC008689	CCDS8175.1	11q13.2	2014-08-08			ENSG00000132744	ENSG00000132744			24104	protein-coding gene	gene with protein product		614413				14656720	Standard	NM_080658		Approved	HCBP1, MGC9740, ACY-3	uc001omq.3	Q96HD9	OTTHUMG00000167283	ENST00000255082.3:c.912C>T	11.37:g.67410243G>A						ACY3_ENST00000529256.1_Silent_p.T183T	p.T304T	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN			8	1082	-			304						Silent	SNP	ENST00000255082.3	37	c.912C>T	CCDS8175.1																																																																																				0.577	ACY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394002.1	NM_080658		5	56	0	0	0	1	0	5	56				
ZNF451	26036	broad.mit.edu	37	6	57013182	57013182	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:57013182G>A	ENST00000370706.4	+	10	2543	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D767N	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	767					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAATTTAACCGACATGAACAC	0.418																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2299-2301)Gac>Aac		zinc finger protein 451							85.0	77.0	79.0					6																	57013182		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013182G>A	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2299G>A	6.37:g.57013182G>A	ENSP00000359740:p.Asp767Asn					RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D767N|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	p.D767N	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2543	+	Lung NSC(77;0.145)		767					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.2299G>A	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	8.435	0.849509	0.17034	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.19669	2.13;2.15;2.13	5.26	3.4	0.38934	Zinc finger, C2H2-like (1);	0.282111	0.40302	N	0.001131	T	0.09335	0.0230	M	0.63843	1.955	0.80722	D	1	B;B;B;B	0.28933	0.131;0.194;0.228;0.119	B;B;B;B	0.25506	0.026;0.061;0.051;0.023	T	0.04307	-1.0961	10	0.38643	T	0.18	-12.6268	8.5214	0.33277	0.243:0.0:0.757:0.0	.	767;767;767;767	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	N	767	ENSP00000359740:D767N;ENSP00000350083:D767N;ENSP00000421645:D767N	ENSP00000350083:D767N	D	+	1	0	ZNF451	57121141	0.995000	0.38212	0.540000	0.28089	0.170000	0.22686	2.396000	0.44468	0.649000	0.30751	0.650000	0.86243	GAC		0.418	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		8	17	0	0	0	1	0	8	17				
KCNH6	81033	broad.mit.edu	37	17	61615448	61615448	+	Silent	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:61615448C>T	ENST00000583023.1	+	7	1535	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH6_ENST00000314672.5_Silent_p.F508F|KCNH6_ENST00000456941.2_Silent_p.F455F|KCNH6_ENST00000581784.1_Silent_p.F455F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	508					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCAGCATCTTCGGGAACGTGT	0.657																																						ENST00000583023.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1522-1524)ttC>ttT		potassium voltage-gated channel, subfamily H (eag-related), member 6	Ibutilide(DB00308)						39.0	37.0	38.0					17																	61615448		2203	4300	6503	SO:0001819	synonymous_variant	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61615448C>T	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1524C>T	17.37:g.61615448C>T						KCNH6_ENST00000456941.2_Silent_p.F455F|KCNH6_ENST00000581784.1_Silent_p.F455F|KCNH6_ENST00000314672.5_Silent_p.F508F	p.F508F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN			7	1535	+			508					Q9BRD7	Silent	SNP	ENST00000583023.1	37	c.1524C>T	CCDS11638.1																																																																																				0.657	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779		7	16	0	0	0	1	0	7	16				
HMGCLL1	54511	broad.mit.edu	37	6	55360386	55360386	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:55360386C>T	ENST00000398661.2	-	8	847	c.716G>A	c.(715-717)gGc>gAc	p.G239D	HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G177D|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G106D|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G209D	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	239					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAACCCATGCCGTACAATCT	0.403																																					Ovarian(35;840 893 7837 15538 42887)	ENST00000398661.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(715-717)gGc>gAc		3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1							102.0	92.0	95.0					6																	55360386		1865	4118	5983	SO:0001583	missense	54511						hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr6:55360386C>T	AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.716G>A	6.37:g.55360386C>T	ENSP00000381654:p.Gly239Asp					HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.G177D|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.G209D|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.G106D	p.G239D	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		8	847	-	Lung NSC(77;0.0875)		239					B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Missense_Mutation	SNP	ENST00000398661.2	37	c.716G>A	CCDS43475.1	.	.	.	.	.	.	.	.	.	.	C	2.885	-0.230858	0.05983	.	.	ENSG00000146151	ENST00000274901;ENST00000398661;ENST00000370850;ENST00000308161	D;D;D;D	0.97941	-4.62;-4.62;-4.58;-4.62	5.61	5.61	0.85477	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.492081	0.25439	N	0.030674	D	0.84710	0.5532	N	0.00599	-1.345	0.80722	D	1	B;B;B;B	0.21147	0.052;0.0;0.0;0.0	B;B;B;B	0.32677	0.15;0.001;0.001;0.002	T	0.82780	-0.0288	10	0.02654	T	1	-2.135	19.649	0.95793	0.0:1.0:0.0:0.0	.	106;177;209;239	B7Z212;F8W793;Q8TB92-2;Q8TB92	.;.;.;HMGC2_HUMAN	D	209;239;106;177	ENSP00000274901:G209D;ENSP00000381654:G239D;ENSP00000359887:G106D;ENSP00000309737:G177D	ENSP00000274901:G209D	G	-	2	0	HMGCLL1	55468345	0.061000	0.20836	0.927000	0.36925	0.778000	0.44026	2.264000	0.43302	2.635000	0.89317	0.650000	0.86243	GGC		0.403	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360290.1	XM_166383		5	37	0	0	0	1	0	5	37				
UQCRC1	7384	broad.mit.edu	37	3	48641726	48641726	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:48641726G>A	ENST00000203407.5	-	5	982	c.566C>T	c.(565-567)gCc>gTc	p.A189V		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	189					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAATGCTGTGGCATGCAGGTA	0.547																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(565-567)gCc>gTc		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						161.0	132.0	142.0					3																	48641726		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48641726G>A	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.566C>T	3.37:g.48641726G>A	ENSP00000203407:p.Ala189Val						p.A189V	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	982	-			189					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.566C>T	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	G	36	5.927387	0.97110	.	.	ENSG00000010256	ENST00000203407	T	0.20200	2.09	5.83	5.83	0.93111	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.85130	0.587;0.997	T	0.80420	-0.1390	10	0.87932	D	0	-23.2338	20.1218	0.97964	0.0:0.0:1.0:0.0	.	74;189	B4DUL5;P31930	.;QCR1_HUMAN	V	189	ENSP00000203407:A189V	ENSP00000203407:A189V	A	-	2	0	UQCRC1	48616730	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.857000	0.99534	2.763000	0.94921	0.561000	0.74099	GCC		0.547	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		23	61	0	0	0	1	0	23	61				
MALAT1	378938	broad.mit.edu	37	11	65266102	65266102	+	lincRNA	SNP	G	G	A	rs570507089	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:65266102G>A	ENST00000534336.1	+	0	870				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GCTCAGTTGCGTAATGGAAAG	0.483													G|||	11	0.00219649	0.0	0.0	5008	,	,		17131	0.0		0.0	False		,,,				2504	0.0112					ENST00000534336.1																			0																				86.0	89.0	88.0					11																	65266102		874	1988	2862			0							g.chr11:65266102G>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266102G>A								NR_002819.2						0	870	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.483	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		3	47	0	0	0	1	0	3	47				
TNFRSF1B	7133	broad.mit.edu	37	1	12253152	12253152	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:12253152G>A	ENST00000376259.3	+	6	873	c.784G>A	c.(784-786)Gtt>Att	p.V262I	MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	262					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	CGCTCTTCCAGTTGGTAAGTC	0.562																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(784-786)Gtt>Att		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						77.0	62.0	68.0					1																	12253152		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12253152G>A	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.784G>A	1.37:g.12253152G>A	ENSP00000365435:p.Val262Ile					TNFRSF1B_ENST00000492361.1_3'UTR	p.V262I	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	6	873	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	262					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.784G>A	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	1.011	-0.687793	0.03328	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.86230	-2.09	4.18	-3.59	0.04583	.	2.291020	0.01341	N	0.011563	T	0.56202	0.1969	N	0.00368	-1.59	0.18873	N	0.999988	B	0.06786	0.001	B	0.04013	0.001	T	0.67473	-0.5662	10	0.02654	T	1	-1.9362	6.1981	0.20561	0.2698:0.1779:0.5524:0.0	.	262	P20333	TNR1B_HUMAN	I	262	ENSP00000365435:V262I	ENSP00000365435:V262I	V	+	1	0	TNFRSF1B	12175739	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.140000	0.10342	-0.366000	0.08064	0.609000	0.83330	GTT		0.562	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		3	14	0	0	0	1	0	3	14				
OR10J3	441911	broad.mit.edu	37	1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	rs150299321		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453													g|||	1	0.000199681	0.0	0.0	5008	,	,		22123	0.0		0.001	False		,,,				2504	0.0					ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(64-66)Cgg>Tgg		olfactory receptor, family 10, subfamily J, member 3		G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	175.0	183.0	180.0		64	2.8	0.9	1	dbSNP_134	180	2,8598	2.2+/-6.3	0,2,4298	yes	missense	OR10J3	NM_001004467.1	101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	22/330	159284386	4,13002	2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284386G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.64C>T	1.37:g.159284386G>A	ENSP00000331789:p.Arg22Trp						p.R22W	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	63	-	all_hematologic(112;0.0429)		22						Missense_Mutation	SNP	ENST00000332217.5	37	c.64C>T	CCDS30909.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	2.544	-0.305691	0.05495	4.54E-4	2.33E-4	ENSG00000196266	ENST00000332217	T	0.03004	4.08	5.13	2.79	0.32731	.	0.000000	0.29609	N	0.011678	T	0.00637	0.0021	N	0.13043	0.29	0.19300	N	0.999974	B	0.06786	0.001	B	0.01281	0.0	T	0.49254	-0.8959	10	0.33141	T	0.24	.	1.9492	0.03363	0.5821:0.1593:0.0874:0.1711	.	22	Q5JRS4	O10J3_HUMAN	W	22	ENSP00000331789:R22W	ENSP00000331789:R22W	R	-	1	2	OR10J3	157551010	0.005000	0.15991	0.896000	0.35187	0.018000	0.09664	-0.070000	0.11523	0.390000	0.25115	-0.405000	0.06341	CGG		0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			17	106	0	0	0	1	0	17	106				
GPR158	57512	broad.mit.edu	37	10	25887113	25887113	+	Missense_Mutation	SNP	C	C	T	rs372800397		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:25887113C>T	ENST00000376351.3	+	11	2917	c.2558C>T	c.(2557-2559)tCg>tTg	p.S853L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	853					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S853*(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAATCCCTGTCGGGTAAAAAA	0.502																																						ENST00000376351.3																			1	Substitution - Nonsense(1)	p.S853*(1)	lung(1)	breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2557-2559)tCg>tTg		G protein-coupled receptor 158		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	87.0	98.0	94.0		2558	4.0	0.0	10		94	0,8600		0,0,4300	no	missense	GPR158	NM_020752.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	853/1216	25887113	1,13005	2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887113C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2558C>T	10.37:g.25887113C>T	ENSP00000365529:p.Ser853Leu					GPR158_ENST00000490549.1_3'UTR	p.S853L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2917	+			853					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2558C>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.294074	0.23564	2.27E-4	0.0	ENSG00000151025	ENST00000376351	T	0.59364	0.27	5.79	3.95	0.45737	.	1.339440	0.05089	N	0.484832	T	0.31857	0.0810	N	0.03608	-0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.30534	-0.9975	10	0.07325	T	0.83	.	6.666	0.23041	0.2463:0.6195:0.0:0.1342	.	853	Q5T848	GP158_HUMAN	L	853	ENSP00000365529:S853L	ENSP00000365529:S853L	S	+	2	0	GPR158	25927119	0.051000	0.20477	0.002000	0.10522	0.130000	0.20726	1.454000	0.35178	0.799000	0.34018	0.650000	0.86243	TCG		0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		18	34	0	0	0	1	0	18	34				
MYO9A	4649	broad.mit.edu	37	15	72292256	72292256	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr15:72292256G>C	ENST00000356056.5	-	9	1878	c.1406C>G	c.(1405-1407)gCa>gGa	p.A469G	MYO9A_ENST00000566885.1_Missense_Mutation_p.A64G|MYO9A_ENST00000424560.1_Missense_Mutation_p.A469G|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.A450G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.A469G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	469	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTAACTAATGCTTCAAATAG	0.328																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(1405-1407)gCa>gGa		myosin IXA							143.0	131.0	135.0					15																	72292256		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72292256G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1406C>G	15.37:g.72292256G>C	ENSP00000348349:p.Ala469Gly					MYO9A_ENST00000424560.1_Missense_Mutation_p.A469G|MYO9A_ENST00000444904.1_Missense_Mutation_p.A450G|MYO9A_ENST00000566885.1_Missense_Mutation_p.A64G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.A469G|RP11-390D11.1_ENST00000568391.1_RNA	p.A469G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			9	1878	-			469			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.1406C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352386	0.82132	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88975	-2.45;-2.45;-2.45	5.73	5.73	0.89815	Myosin head, motor domain (2);	.	.	.	.	D	0.94059	0.8096	M	0.70842	2.15	0.80722	D	1	P;D;D;B	0.76494	0.743;0.997;0.999;0.152	B;D;D;B	0.69142	0.423;0.936;0.962;0.175	D	0.93991	0.7267	9	0.66056	D	0.02	.	19.4942	0.95065	0.0:0.0:1.0:0.0	.	450;469;450;469	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	G	469;469;450;450;469	ENSP00000348349:A469G;ENSP00000399162:A469G;ENSP00000398250:A450G	ENSP00000261864:A450G	A	-	2	0	MYO9A	70079310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.145000	0.94634	2.706000	0.92434	0.557000	0.71058	GCA		0.328	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		3	43	0	0	0	1	0	3	43				
KIT	3815	broad.mit.edu	37	4	55603399	55603399	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr4:55603399C>T	ENST00000288135.5	+	20	2852	c.2755C>T	c.(2755-2757)Caa>Taa	p.Q919*		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	919	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACATTCAAGCAAATTGTTCA	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(2755-2757)Caa>Taa		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						147.0	132.0	137.0					4																	55603399		2203	4300	6503	SO:0001587	stop_gained	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55603399C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2755C>T	4.37:g.55603399C>T	ENSP00000288135:p.Gln919*						p.Q919*	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	20	2852	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		919			Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	37	c.2755C>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	37	6.532552	0.97641	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	.	.	.	5.44	5.44	0.79542	.	0.111610	0.40064	N	0.001181	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.6219	0.95660	0.0:1.0:0.0:0.0	.	.	.	.	X	919;915	.	ENSP00000288135:Q919X	Q	+	1	0	KIT	55298156	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.671000	0.61590	2.716000	0.92895	0.650000	0.86243	CAA		0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			13	53	0	0	0	1	0	13	53				
MYH8	4626	broad.mit.edu	37	17	10298623	10298623	+	Missense_Mutation	SNP	C	C	T	rs369298245		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:10298623C>T	ENST00000403437.2	-	34	4883	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1597					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTGTCTCCACGACTCTAGTG	0.413									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4789-4791)Gtg>Atg		myosin, heavy chain 8, skeletal muscle, perinatal							215.0	178.0	191.0					17																	10298623		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298623C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4789G>A	17.37:g.10298623C>T	ENSP00000384330:p.Val1597Met					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.V1597M	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			34	4883	-			1597					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4789G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953573	0.34471	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.79033	-1.23	4.85	2.87	0.33458	Myosin tail (1);	0.194151	0.24611	N	0.037044	T	0.61337	0.2339	N	0.21448	0.665	0.37454	D	0.914943	B	0.21753	0.06	B	0.23150	0.044	T	0.56282	-0.8005	10	0.36615	T	0.2	.	7.0757	0.25203	0.0:0.7073:0.1404:0.1523	.	1597	P13535	MYH8_HUMAN	M	1597	ENSP00000384330:V1597M	ENSP00000252173:V1597M	V	-	1	0	MYH8	10239348	0.221000	0.23642	0.538000	0.28064	0.918000	0.54935	0.742000	0.26216	0.652000	0.30806	0.650000	0.86243	GTG		0.413	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		14	54	0	0	0	1	0	14	54				
TAF1	6872	broad.mit.edu	37	X	70603930	70603930	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chrX:70603930G>A	ENST00000373790.4	+	13	2114	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	TAF1_ENST00000423759.1_Missense_Mutation_p.G709E|TAF1_ENST00000276072.3_Missense_Mutation_p.G709E|TAF1_ENST00000449580.1_Missense_Mutation_p.G688E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	688	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGAAAATGGACCCTTAATG	0.413																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2062-2064)gGa>gAa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							146.0	120.0	128.0					X																	70603930		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603930G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2063G>A	X.37:g.70603930G>A	ENSP00000362895:p.Gly688Glu					TAF1_ENST00000423759.1_Missense_Mutation_p.G709E|TAF1_ENST00000373790.4_Missense_Mutation_p.G688E|TAF1_ENST00000276072.3_Missense_Mutation_p.G709E	p.G688E			P21675	TAF1_HUMAN			13	2114	+	Renal(35;0.156)	all_lung(315;0.000321)	688					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2063G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.504993	0.64410	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.88	4.96	0.65561	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.170385	0.50627	D	0.000105	T	0.10252	0.0251	N	0.08118	0	0.37836	D	0.928889	B;B	0.25486	0.07;0.127	B;B	0.35688	0.139;0.208	T	0.24154	-1.0168	10	0.87932	D	0	.	12.7882	0.57518	0.0:0.3745:0.6255:0.0	.	688;709	P21675;P21675-2	TAF1_HUMAN;.	E	688;688;709;709	ENSP00000362895:G688E;ENSP00000389000:G688E;ENSP00000406549:G709E;ENSP00000276072:G709E	ENSP00000276072:G709E	G	+	2	0	TAF1	70520655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.169000	0.64984	2.474000	0.83562	0.600000	0.82982	GGA		0.413	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		13	27	0	0	0	1	0	13	27				
PARK7	11315	broad.mit.edu	37	1	8022930	8022930	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:8022930G>A	ENST00000493678.1	+	2	152	c.85G>A	c.(85-87)Gct>Act	p.A29T	PARK7_ENST00000377488.1_Missense_Mutation_p.A29T|PARK7_ENST00000377493.5_Missense_Mutation_p.A29T|PARK7_ENST00000377491.1_Missense_Mutation_p.A29T|PARK7_ENST00000338639.5_Missense_Mutation_p.A29T|PARK7_ENST00000497113.1_3'UTR			Q99497	PARK7_HUMAN	parkinson protein 7	29					adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381)			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		CATGAGGCGAGCTGGGGTAAG	0.373																																						ENST00000493678.1																			0				large_intestine(1)	1						c.(85-87)Gct>Act		parkinson protein 7							93.0	87.0	89.0					1																	8022930		2203	4300	6503	SO:0001583	missense	0				autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity	g.chr1:8022930G>A	D61380	CCDS93.1	1p36.23	2014-04-11	2011-07-21		ENSG00000116288	ENSG00000116288		"""Parkinson disease"""	16369	protein-coding gene	gene with protein product			"""Parkinson disease (autosomal recessive, early onset) 7"""			11462174, 9070310	Standard	NM_007262		Approved	DJ-1, DJ1	uc001aox.4	Q99497	OTTHUMG00000001210	ENST00000493678.1:c.85G>A	1.37:g.8022930G>A	ENSP00000418770:p.Ala29Thr					PARK7_ENST00000377491.1_Missense_Mutation_p.A29T|PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377493.5_Missense_Mutation_p.A29T|PARK7_ENST00000338639.5_Missense_Mutation_p.A29T|PARK7_ENST00000377488.1_Missense_Mutation_p.A29T	p.A29T			Q99497	PARK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)	2	152	+	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	29					B2R4Z1|O14805|Q6DR95|Q7LFU2	Missense_Mutation	SNP	ENST00000493678.1	37	c.85G>A	CCDS93.1	.	.	.	.	.	.	.	.	.	.	G	31	5.072653	0.93950	.	.	ENSG00000116288	ENST00000338639;ENST00000493678;ENST00000377491;ENST00000377488	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.91941	0.5563	10	0.87932	D	0	.	13.9595	0.64170	0.0:0.0:1.0:0.0	.	29	Q99497	PARK7_HUMAN	T	29	ENSP00000340278:A29T;ENSP00000418770:A29T;ENSP00000366711:A29T;ENSP00000366708:A29T	ENSP00000340278:A29T	A	+	1	0	PARK7	7945517	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.319000	0.89992	2.434000	0.82447	0.585000	0.79938	GCT		0.373	PARK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003577.1	NM_007262		3	24	0	0	0	1	0	3	24				
LRP1B	53353	broad.mit.edu	37	2	141291620	141291620	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr2:141291620C>T	ENST00000389484.3	-	47	8703	c.7732G>A	c.(7732-7734)Gga>Aga	p.G2578R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2578	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGTTGTCTCCGCAGTCATTT	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7732-7734)Gga>Aga		low density lipoprotein receptor-related protein 1B							117.0	112.0	114.0					2																	141291620		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141291620C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7732G>A	2.37:g.141291620C>T	ENSP00000374135:p.Gly2578Arg	TSP Lung(27;0.18)					p.G2578R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	47	8703	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2578			LDL-receptor class A 12.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7732G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148661	0.94603	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.42	5.42	0.78866	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.96719	0.8929	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95046	0.8182	10	0.25751	T	0.34	.	19.5918	0.95518	0.0:1.0:0.0:0.0	.	2578	Q9NZR2	LRP1B_HUMAN	R	2578;2516	ENSP00000374135:G2578R	ENSP00000374135:G2578R	G	-	1	0	LRP1B	141008090	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.399000	0.79935	2.700000	0.92200	0.563000	0.77884	GGA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	55	0	0	0	1	0	4	55				
TRIP11	9321	broad.mit.edu	37	14	92471719	92471719	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:92471719T>G	ENST00000267622.4	-	11	2974	c.2601A>C	c.(2599-2601)gaA>gaC	p.E867D		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	867					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GTTCCAATTCTTCTTGCAGAT	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2599-2601)gaA>gaC		thyroid hormone receptor interactor 11							135.0	121.0	125.0					14																	92471719		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471719T>G	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2601A>C	14.37:g.92471719T>G	ENSP00000267622:p.Glu867Asp						p.E867D	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	11	2974	-			867					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2601A>C	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.492653	0.26774	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.12984	2.63	6.04	1.11	0.20524	.	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	M	0.66939	2.045	0.42940	D	0.994349	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00692	-1.1607	10	0.41790	T	0.15	.	9.3718	0.38258	0.0:0.2711:0.0:0.7289	.	603;867	F5H1Z0;Q15643	.;TRIPB_HUMAN	D	867;603	ENSP00000267622:E867D	ENSP00000267622:E867D	E	-	3	2	TRIP11	91541472	1.000000	0.71417	0.750000	0.31169	0.053000	0.15095	0.821000	0.27338	-0.035000	0.13691	0.460000	0.39030	GAA		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			33	42	0	0	0	1	0	33	42				
UBR4	23352	broad.mit.edu	37	1	19501477	19501477	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:19501477C>T	ENST00000375254.3	-	21	2851	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	UBR4_ENST00000375217.2_Missense_Mutation_p.E942K|UBR4_ENST00000375226.2_Missense_Mutation_p.E942K|UBR4_ENST00000375267.2_Missense_Mutation_p.E942K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	942					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAATCATCCTCTGAGGCTTCT	0.428																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(2824-2826)Gag>Aag		ubiquitin protein ligase E3 component n-recognin 4							101.0	94.0	97.0					1																	19501477		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19501477C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.2824G>A	1.37:g.19501477C>T	ENSP00000364403:p.Glu942Lys					UBR4_ENST00000375226.2_Missense_Mutation_p.E942K|UBR4_ENST00000375254.3_Missense_Mutation_p.E942K|UBR4_ENST00000375217.2_Missense_Mutation_p.E942K	p.E942K			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	21	2827	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	942					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.2824G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857284	0.71834	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.30510	0.0767	N	0.22421	0.69	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.01762	-1.1279	10	0.08599	T	0.76	.	20.0143	0.97474	0.0:1.0:0.0:0.0	.	942	Q5T4S7	UBR4_HUMAN	K	942;942;942;942;158	ENSP00000364403:E942K;ENSP00000364416:E942K;ENSP00000364365:E942K;ENSP00000364374:E942K	ENSP00000364365:E942K	E	-	1	0	UBR4	19374064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.831000	0.97527	0.650000	0.86243	GAG		0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		26	41	0	0	0	1	0	26	41				
SLC22A2	6582	broad.mit.edu	37	6	160679379	160679379	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:160679379G>A	ENST00000366953.3	-	1	669	c.411C>T	c.(409-411)acC>acT	p.T137T	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.T116T	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	137					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	CTCTTACCTCGGTGACGATGG	0.617																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(346-348)acC>acT		solute carrier family 22 (organic cation transporter), member 2							60.0	67.0	64.0					6																	160679379		2201	4300	6501	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679379G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.411C>T	6.37:g.160679379G>A						SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Silent_p.T137T	p.T116T			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	1829	-		Breast(66;0.000776)|Ovarian(120;0.0303)	137					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.348C>T	CCDS5276.1																																																																																				0.617	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		14	54	0	0	0	1	0	14	54				
PLXNA4	91584	broad.mit.edu	37	7	131848926	131848926	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr7:131848926C>T	ENST00000359827.3	-	24	5437	c.4475G>A	c.(4474-4476)cGc>cAc	p.R1492H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1492H			Q9HCM2	PLXA4_HUMAN	plexin A4	1492					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AATCTGCTGGCGGATGAGCTT	0.602																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4474-4476)cGc>cAc		plexin A4							79.0	88.0	85.0					7																	131848926		2203	4300	6503	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131848926C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4475G>A	7.37:g.131848926C>T	ENSP00000352882:p.Arg1492His					PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1492H	p.R1492H			Q9HCM2	PLXA4_HUMAN			24	5437	-			1492					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4475G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484409	0.96323	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.15487	2.42;2.42	5.45	5.45	0.79879	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.51278	0.1665	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58645	-0.7600	10	0.59425	D	0.04	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	1492	Q9HCM2	PLXA4_HUMAN	H	1492	ENSP00000323194:R1492H;ENSP00000352882:R1492H	ENSP00000323194:R1492H	R	-	2	0	PLXNA4	131499466	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.550000	0.86006	0.655000	0.94253	CGC		0.602	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		6	24	0	0	0	1	0	6	24				
RBCK1	10616	broad.mit.edu	37	20	390566	390566	+	Missense_Mutation	SNP	G	G	A	rs546711324		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:390566G>A	ENST00000356286.5	+	2	769	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000400247.3_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	22	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582													G|||	0	0.0	0.0	0.0	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.0					ENST00000356286.5																			0				kidney(1)|lung(4)	5						c.(64-66)Ggg>Agg		RanBP-type and C3HC4-type zinc finger containing 1							97.0	98.0	98.0					20																	390566		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:390566G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.64G>A	20.37:g.390566G>A	ENSP00000348632:p.Gly22Arg					RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000353660.3_Intron	p.G22R	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN			2	769	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	22			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.64G>A	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875962	0.91664	.	.	ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000475269;ENST00000441733;ENST00000400244;ENST00000400243	T;T;T	0.61510	0.1;1.42;0.15	4.68	4.68	0.58851	.	0.066759	0.64402	D	0.000010	T	0.73377	0.3579	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.786	T	0.74870	-0.3517	10	0.51188	T	0.08	-11.713	15.14	0.72604	0.0:0.0:1.0:0.0	.	12;22	B4E0F5;Q9BYM8	.;HOIL1_HUMAN	R	22;22;22;21;22;22	ENSP00000415080:G22R;ENSP00000348632:G22R;ENSP00000387799:G21R	ENSP00000348632:G22R	G	+	1	0	RBCK1	338566	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	6.944000	0.75940	2.397000	0.81536	0.563000	0.77884	GGG		0.582	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		11	62	0	0	0	1	0	11	62				
CCDC88B	283234	broad.mit.edu	37	11	64121525	64121525	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:64121525C>T	ENST00000356786.5	+	24	4026	c.3982C>T	c.(3982-3984)Cgg>Tgg	p.R1328W	CCDC88B_ENST00000359902.2_Intron|CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1328						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						gcggccccggcgggagggggg	0.741																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3982-3984)Cgg>Tgg		coiled-coil domain containing 88B							7.0	9.0	9.0					11																	64121525		2149	4215	6364	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64121525C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3982C>T	11.37:g.64121525C>T	ENSP00000349238:p.Arg1328Trp					CCDC88B_ENST00000359902.2_Intron|CCDC88B_ENST00000301897.4_Intron|CCDC88B_ENST00000463837.1_3'UTR	p.R1328W	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			24	4026	+			1328					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3982C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	16.56	3.158293	0.57368	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26223	1.75	2.88	0.626	0.17670	.	.	.	.	.	T	0.35335	0.0928	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.975;0.998	T	0.15263	-1.0443	9	0.87932	D	0	.	6.7883	0.23685	0.5046:0.4954:0.0:0.0	.	1328;1210;1328	B2RTU8;A6NC98-4;A6NC98	.;.;CC88B_HUMAN	W	1210;1328	ENSP00000349238:R1328W	ENSP00000349238:R1328W	R	+	1	2	CCDC88B	63878101	0.999000	0.42202	1.000000	0.80357	0.950000	0.60333	0.344000	0.19962	0.500000	0.27991	-0.521000	0.04368	CGG		0.741	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		12	9	0	0	0	1	0	12	9				
ASIC2	40	broad.mit.edu	37	17	31618456	31618456	+	Intron	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:31618456G>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000225823.2_Silent_p.G226G|ASIC2_ENST00000448983.1_5'UTR	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	CGCAGAGCTCGCCGCGGTACT	0.682																																						ENST00000225823.2																			0											c.(676-678)ggC>ggT		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						23.0	26.0	25.0					17																	31618456		2192	4278	6470	SO:0001627	intron_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31618456G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179371C>T	17.37:g.31618456G>A						ASIC2_ENST00000359872.6_Intron|ASIC2_ENST00000448983.1_5'UTR	p.G226G	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			1	1550	-			175					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.678C>T	CCDS42296.1																																																																																				0.682	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		6	36	0	0	0	1	0	6	36				
LRRC23	10233	broad.mit.edu	37	12	7014862	7014862	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:7014862A>G	ENST00000007969.8	+	2	285	c.65A>G	c.(64-66)gAc>gGc	p.D22G	LRRC23_ENST00000323702.5_Missense_Mutation_p.D22G|LRRC23_ENST00000436789.1_Missense_Mutation_p.D22G|LRRC23_ENST00000429740.1_Missense_Mutation_p.D22G|LRRC23_ENST00000433346.1_Missense_Mutation_p.D22G|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000443597.2_Missense_Mutation_p.D22G	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	22										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						aaagaagaggacgagaaggag	0.512																																						ENST00000007969.8																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						c.(64-66)gAc>gGc		leucine rich repeat containing 23							62.0	67.0	66.0					12																	7014862		2203	4300	6503	SO:0001583	missense	10233							g.chr12:7014862A>G	BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000007969.8:c.65A>G	12.37:g.7014862A>G	ENSP00000007969:p.Asp22Gly					LRRC23_ENST00000323702.5_Missense_Mutation_p.D22G|LRRC23_ENST00000443597.2_Missense_Mutation_p.D22G|LRRC23_ENST00000436789.1_Missense_Mutation_p.D22G|LRRC23_ENST00000429740.1_Missense_Mutation_p.D22G|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000433346.1_Missense_Mutation_p.D22G	p.D22G	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN			2	285	+			22					A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	Missense_Mutation	SNP	ENST00000007969.8	37	c.65A>G	CCDS8569.1	.	.	.	.	.	.	.	.	.	.	A	9.306	1.054376	0.19907	.	.	ENSG00000010626	ENST00000433346;ENST00000007969;ENST00000323702;ENST00000443597;ENST00000415834;ENST00000436789;ENST00000429740	T;T;T;T;T;T;T	0.66638	1.86;0.05;-0.22;0.05;0.86;1.9;1.44	4.74	3.54	0.40534	.	.	.	.	.	T	0.67135	0.2861	L	0.48642	1.525	0.24495	N	0.994286	D;D;P;P	0.54207	0.965;0.965;0.849;0.849	P;P;P;B	0.55871	0.786;0.786;0.478;0.305	T	0.53954	-0.8365	9	0.22706	T	0.39	-5.6563	7.3107	0.26473	0.8992:0.0:0.1008:0.0	.	22;22;22;22	E9PDZ4;Q53EV4-2;Q53EV4;C9JKE8	.;.;LRC23_HUMAN;.	G	22	ENSP00000402554:D22G;ENSP00000007969:D22G;ENSP00000317464:D22G;ENSP00000390932:D22G;ENSP00000408066:D22G;ENSP00000396049:D22G;ENSP00000397192:D22G	ENSP00000007969:D22G	D	+	2	0	LRRC23	6885123	0.671000	0.27521	0.843000	0.33291	0.142000	0.21351	2.890000	0.48609	0.789000	0.33779	0.459000	0.35465	GAC		0.512	LRRC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345214.1	NM_006992		5	46	0	0	0	1	0	5	46				
THBS4	7060	broad.mit.edu	37	5	79355291	79355291	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:79355291C>T	ENST00000350881.2	+	6	951	c.761C>T	c.(760-762)aCc>aTc	p.T254I	THBS4_ENST00000511733.1_Missense_Mutation_p.T163I|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	254					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTGCGAAACACCATAGCTGAA	0.438																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(760-762)aCc>aTc		thrombospondin 4							129.0	123.0	125.0					5																	79355291		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79355291C>T		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.761C>T	5.37:g.79355291C>T	ENSP00000339730:p.Thr254Ile					THBS4_ENST00000511733.1_Missense_Mutation_p.T163I|CTD-2201I18.1_ENST00000503007.1_RNA	p.T254I	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	6	951	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	254					B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.761C>T	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933315	0.92458	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.26518	1.73;1.73	5.62	5.62	0.85841	Thrombospondin/cartilage oligomeric matrix protein, coiled-coil domain (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.76574	2.34	0.80722	D	1	D	0.71674	0.998	D	0.69824	0.966	T	0.52808	-0.8526	10	0.54805	T	0.06	-28.2768	19.6689	0.95903	0.0:1.0:0.0:0.0	.	254	P35443	TSP4_HUMAN	I	254;163	ENSP00000339730:T254I;ENSP00000422298:T163I	ENSP00000339730:T254I	T	+	2	0	THBS4	79391047	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.788000	0.69020	2.642000	0.89623	0.655000	0.94253	ACC		0.438	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			24	49	0	0	0	1	0	24	49				
THSD7B	80731	broad.mit.edu	37	2	137814461	137814461	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr2:137814461G>A	ENST00000409968.1	+	3	789	c.611G>A	c.(610-612)cGc>cAc	p.R204H	THSD7B_ENST00000272643.3_Missense_Mutation_p.R204H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173H|THSD7B_ENST00000543459.1_Missense_Mutation_p.R63H			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	204	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATAGAACTCGCGCGGTCATA	0.507																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(610-612)cGc>cAc		thrombospondin, type I, domain containing 7B							190.0	186.0	187.0					2																	137814461		1961	4151	6112	SO:0001583	missense	80731							g.chr2:137814461G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.611G>A	2.37:g.137814461G>A	ENSP00000387145:p.Arg204His					THSD7B_ENST00000272643.3_Missense_Mutation_p.R204H|THSD7B_ENST00000543459.1_Missense_Mutation_p.R63H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R173H	p.R204H						BRCA - Breast invasive adenocarcinoma(221;0.19)	3	789	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	G	21.1	4.098418	0.76870	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.88669	0.6499	H	0.98980	4.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92363	0.5899	10	0.72032	D	0.01	.	19.9508	0.97198	0.0:0.0:1.0:0.0	.	204;173	Q9C0I4;C9JKN6	THS7B_HUMAN;.	H	204;204;173;63	ENSP00000387145:R204H;ENSP00000272643:R204H;ENSP00000413841:R173H;ENSP00000443370:R63H	ENSP00000272643:R204H	R	+	2	0	THSD7B	137530931	1.000000	0.71417	0.968000	0.41197	0.272000	0.26649	9.813000	0.99286	2.890000	0.99128	0.585000	0.79938	CGC		0.507	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		32	130	0	0	0	1	0	32	130				
NCOR1P1	149934	broad.mit.edu	37	20	26084094	26084094	+	RNA	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:26084094T>C	ENST00000478176.1	-	0	363					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		aaaacataCATTCTTAGAATA	0.299																																						ENST00000478176.1																			0																				76.0	58.0	64.0					20																	26084094		692	1588	2280			0							g.chr20:26084094T>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084094T>C								NR_003678.1						0	363	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.299	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	9	0	0	0	1	0	3	9				
TCEAL2	140597	broad.mit.edu	37	X	101381877	101381877	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chrX:101381877G>A	ENST00000372780.1	+	3	294	c.75G>A	c.(73-75)ccG>ccA	p.P25P	TCEAL2_ENST00000329035.2_Silent_p.P25P	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	25					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AACAGCCACCGCACGAGGGAA	0.428													G|||	1	0.000264901	0.0008	0.0	3775	,	,		16473	0.0		0.0	False		,,,				2504	0.0					ENST00000372780.1																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						c.(73-75)ccG>ccA		transcription elongation factor A (SII)-like 2							112.0	103.0	106.0					X																	101381877		2203	4300	6503	SO:0001819	synonymous_variant	140597				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101381877G>A	AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.75G>A	X.37:g.101381877G>A						TCEAL2_ENST00000329035.2_Silent_p.P25P	p.P25P	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN			3	294	+			25					B2R5C7	Silent	SNP	ENST00000372780.1	37	c.75G>A	CCDS14496.1																																																																																				0.428	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390		3	25	0	0	0	1	0	3	25				
TRAPPC9	83696	broad.mit.edu	37	8	141381088	141381088	+	Silent	SNP	C	C	T	rs145960296	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:141381088C>T	ENST00000438773.2	-	8	1459	c.1326G>A	c.(1324-1326)tcG>tcA	p.S442S	TRAPPC9_ENST00000389327.3_Silent_p.S433S|TRAPPC9_ENST00000389328.4_Silent_p.S540S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	442					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TGGGATCCAGCGACAGACTGT	0.607													C|||	7	0.00139776	0.0	0.0	5008	,	,		18123	0.0		0.004	False		,,,				2504	0.0031					ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1618-1620)tcG>tcA		trafficking protein particle complex 9		C	,	0,4406		0,0,2203	76.0	76.0	76.0		1326,1620	-11.0	0.1	8	dbSNP_134	76	14,8586	10.5+/-38.8	0,14,4286	no	coding-synonymous,coding-synonymous	TRAPPC9	NM_001160372.1,NM_031466.5	,	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	,	442/1149,540/1247	141381088	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141381088C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1326G>A	8.37:g.141381088C>T						TRAPPC9_ENST00000389327.3_Silent_p.S433S|TRAPPC9_ENST00000438773.2_Silent_p.S442S	p.S540S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			8	1634	-			442					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1620G>A	CCDS55278.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	5.342	0.248417	0.10130	0.0	0.001628	ENSG00000167632	ENST00000520857	.	.	.	5.5	-11.0	0.00169	.	.	.	.	.	T	0.43433	0.1247	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57568	-0.7789	4	.	.	.	.	6.5116	0.22224	0.1196:0.4723:0.2128:0.1953	.	.	.	.	T	286	.	.	A	-	1	0	TRAPPC9	141450270	0.000000	0.05858	0.113000	0.21522	0.646000	0.38490	-5.205000	0.00141	-3.816000	0.00103	-1.006000	0.02489	GCT		0.607	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		8	131	0	0	0	1	0	8	131				
MYCBPAP	84073	broad.mit.edu	37	17	48600356	48600356	+	Silent	SNP	C	C	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:48600356C>A	ENST00000323776.5	+	11	1605	c.1443C>A	c.(1441-1443)acC>acA	p.T481T	MYCBPAP_ENST00000436259.2_Silent_p.T444T	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCGAGAAAACCTCCTCAGAAC	0.512																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1441-1443)acC>acA		MYCBP associated protein							106.0	104.0	104.0					17																	48600356		2203	4300	6503	SO:0001819	synonymous_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48600356C>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1443C>A	17.37:g.48600356C>A						MYCBPAP_ENST00000436259.2_Silent_p.T444T	p.T481T	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		11	1605	+	Breast(11;1.23e-18)		444						Silent	SNP	ENST00000323776.5	37	c.1443C>A	CCDS32680.2																																																																																				0.512	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		21	63	1	0	2.89027e-11	1	3.0107e-11	21	63				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	207	0	0	0	1	0	4	207				
EPYC	1833	broad.mit.edu	37	12	91357953	91357953	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:91357953G>A	ENST00000261172.3	-	7	1041	c.949C>T	c.(949-951)Cct>Tct	p.P317S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	317					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						CTCCCAACAGGCAGACGAGGT	0.393																																						ENST00000261172.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						c.(949-951)Cct>Tct		epiphycan							138.0	124.0	129.0					12																	91357953		2203	4300	6503	SO:0001583	missense	1833				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	g.chr12:91357953G>A	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.949C>T	12.37:g.91357953G>A	ENSP00000261172:p.Pro317Ser						p.P317S	NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN			7	1041	-			317					A8K3M7|Q8NEJ5	Missense_Mutation	SNP	ENST00000261172.3	37	c.949C>T	CCDS31870.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958176	0.92726	.	.	ENSG00000083782	ENST00000261172	T	0.59638	0.25	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82049	-0.0650	10	0.87932	D	0	.	19.579	0.95458	0.0:0.0:1.0:0.0	.	317	Q99645	EPYC_HUMAN	S	317	ENSP00000261172:P317S	ENSP00000261172:P317S	P	-	1	0	EPYC	89882084	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.476000	0.97823	2.617000	0.88574	0.591000	0.81541	CCT		0.393	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407146.2	NM_004950		4	65	0	0	0	1	0	4	65				
PRKDC	5591	broad.mit.edu	37	8	48802925	48802925	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:48802925T>C	ENST00000314191.2	-	33	4017	c.3961A>G	c.(3961-3963)Aca>Gca	p.T1321A	PRKDC_ENST00000338368.3_Missense_Mutation_p.T1321A|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1322					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTGGGCTTGTTCTGTTACCT	0.478								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(3961-3963)Aca>Gca	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							177.0	173.0	174.0					8																	48802925		1961	4142	6103	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48802925T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.3961A>G	8.37:g.48802925T>C	ENSP00000313420:p.Thr1321Ala					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.T1321A	p.T1321A	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			33	4017	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1322					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3961A>G		.	.	.	.	.	.	.	.	.	.	T	6.861	0.528227	0.13127	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02345	4.39;4.33	5.15	0.725	0.18242	.	0.573168	0.19256	N	0.118781	T	0.01061	0.0035	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46400	-0.9194	10	0.19590	T	0.45	.	0.2047	0.00149	0.3381:0.2031:0.2518:0.207	.	1321;1322	E7EUY0;P78527	.;PRKDC_HUMAN	A	1321	ENSP00000313420:T1321A;ENSP00000345182:T1321A	ENSP00000313420:T1321A	T	-	1	0	PRKDC	48965478	0.909000	0.30893	0.054000	0.19295	0.001000	0.01503	1.567000	0.36407	0.281000	0.22233	-0.132000	0.14878	ACA		0.478	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	46	0	0	0	1	0	3	46				
ZFYVE27	118813	broad.mit.edu	37	10	99517472	99517472	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:99517472G>C	ENST00000393677.4	+	12	1367	c.1163G>C	c.(1162-1164)gGg>gCg	p.G388A	ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.G295A|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.G393A|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.G349A|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.G288A|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.G381A|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.G263A	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	388					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TCCTCCATGGGGGCCACAGGT	0.592																																						ENST00000393677.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(1162-1164)gGg>gCg		zinc finger, FYVE domain containing 27							95.0	92.0	93.0					10																	99517472		2203	4300	6503	SO:0001583	missense	118813				cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding	g.chr10:99517472G>C	BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.1163G>C	10.37:g.99517472G>C	ENSP00000377282:p.Gly388Ala					ZFYVE27_ENST00000357540.4_Missense_Mutation_p.G295A|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.G263A|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.G393A|ZFYVE27_ENST00000453958.2_3'UTR|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.G349A|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.G381A|ZFYVE27_ENST00000477521.1_3'UTR|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.G288A	p.G388A	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)	12	1367	+		Colorectal(252;0.0846)	388					B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	c.1163G>C	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852084	0.91355	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T	0.51574	0.7;0.71;1.25;1.23;1.25;1.24	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	L	0.56396	1.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.997;1.0;0.999;1.0;0.999	T	0.68561	-0.5376	10	0.87932	D	0	-37.6395	17.6242	0.88090	0.0:0.0:1.0:0.0	.	349;288;263;295;393;381;388	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	A	349;295;263;288;388;381;393;371	ENSP00000337993:G349A;ENSP00000359642:G288A;ENSP00000377282:G388A;ENSP00000353069:G381A;ENSP00000348593:G393A;ENSP00000409594:G371A	ENSP00000337993:G349A	G	+	2	0	ZFYVE27	99507462	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.507000	0.90522	2.600000	0.87896	0.561000	0.74099	GGG		0.592	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2	NM_144588		12	51	0	0	0	1	0	12	51				
DOT1L	84444	broad.mit.edu	37	19	2222434	2222434	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:2222434G>A	ENST00000398665.3	+	24	3302	c.3266G>A	c.(3265-3267)cGg>cAg	p.R1089Q		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1089					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGCCGGCGGAAGCGAGCA	0.726																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(3265-3267)cGg>cAg		DOT1-like histone H3K79 methyltransferase							9.0	11.0	11.0					19																	2222434		1945	4057	6002	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2222434G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3266G>A	19.37:g.2222434G>A	ENSP00000381657:p.Arg1089Gln						p.R1089Q	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	24	3302	+		Hepatocellular(1079;0.137)	1089					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.3266G>A	CCDS42460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.092250|4.092250	0.76756|0.76756	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000440640|ENST00000398665;ENST00000221482	.|T	.|0.49432	.|0.78	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68348|0.68348	0.2991|0.2991	M|M	0.70275|0.70275	2.135|2.135	0.44515|0.44515	D|D	0.997467|0.997467	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.78314	.|0.991;0.99	T|T	0.72928|0.72928	-0.4143|-0.4143	5|10	.|0.87932	.|D	.|0	-34.7602|-34.7602	17.0644|17.0644	0.86556|0.86556	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1089;1089	.|Q8TEK3;Q8TEK3-2	.|DOT1L_HUMAN;.	R|Q	876|1089	.|ENSP00000381657:R1089Q	.|ENSP00000221482:R1089Q	G|R	+|+	1|2	0|0	DOT1L|DOT1L	2173434|2173434	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.060000|0.060000	0.15804|0.15804	6.537000|6.537000	0.73847|0.73847	2.274000|2.274000	0.75844|0.75844	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.726	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		8	12	0	0	0	1	0	8	12				
LTBP4	8425	broad.mit.edu	37	19	41132932	41132932	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:41132932G>A	ENST00000308370.7	+	32	4236	c.4236G>A	c.(4234-4236)ccG>ccA	p.P1412P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1375P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000545697.1_Silent_p.P780P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1413	Pro-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATAGCCCCCCGCGACCAGGTG	0.627																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4234-4236)ccG>ccA		latent transforming growth factor beta binding protein 4							30.0	34.0	33.0					19																	41132932		1967	4134	6101	SO:0001819	synonymous_variant	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41132932G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4236G>A	19.37:g.41132932G>A						LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Silent_p.P780P|LTBP4_ENST00000396819.3_Silent_p.P1345P|LTBP4_ENST00000204005.9_Silent_p.P1375P	p.P1412P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		32	4236	+			1413			Pro-rich.		O00508|O75412|O75413	Silent	SNP	ENST00000308370.7	37	c.4236G>A																																																																																					0.627	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		4	26	0	0	0	1	0	4	26				
TM2D3	80213	broad.mit.edu	37	15	102182733	102182733	+	Silent	SNP	C	C	T	rs183173353		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr15:102182733C>T	ENST00000333202.3	-	6	698	c.693G>A	c.(691-693)ctG>ctA	p.L231L	TM2D3_ENST00000347970.3_Silent_p.L205L|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000561373.1_Silent_p.L166L	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	231						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCAATGAGCAGGACGTCTA	0.537																																						ENST00000561373.1																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10						c.(496-498)ctG>ctA		TM2 domain containing 3							115.0	113.0	114.0					15																	102182733		2203	4300	6503	SO:0001819	synonymous_variant	80213					integral to membrane		g.chr15:102182733C>T	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.693G>A	15.37:g.102182733C>T						TM2D3_ENST00000333202.3_Silent_p.L231L|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Silent_p.L205L|TM2D3_ENST00000559107.1_Intron	p.L166L			Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1054	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		231					B2RDK9|Q9H046|Q9H651	Silent	SNP	ENST00000333202.3	37	c.498G>A	CCDS10393.1																																																																																				0.537	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		15	22	0	0	0	1	0	15	22				
HPD	3242	broad.mit.edu	37	12	122277717	122277717	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:122277717G>T	ENST00000289004.4	-	14	1134	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	HPD_ENST00000543163.1_Missense_Mutation_p.L328M	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	367					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCCTTGAACAGTGAGTTGAAG	0.607																																						ENST00000543163.1																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18						c.(982-984)Ctg>Atg		4-hydroxyphenylpyruvate dioxygenase	Nitisinone(DB00348)						79.0	80.0	80.0					12																	122277717		2203	4300	6503	SO:0001583	missense	3242				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	g.chr12:122277717G>T	BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.1099C>A	12.37:g.122277717G>T	ENSP00000289004:p.Leu367Met					HPD_ENST00000289004.4_Missense_Mutation_p.L367M	p.L328M	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	15	1427	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		367					A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	ENST00000289004.4	37	c.982C>A	CCDS9224.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411262	0.62399	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	D;D	0.81739	-1.53;-1.53	5.17	4.28	0.50868	.	0.000000	0.85682	D	0.000000	D	0.90837	0.7122	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91276	0.5048	10	0.87932	D	0	-21.6007	8.6747	0.34172	0.2856:0.0:0.7144:0.0	.	367	P32754	HPPD_HUMAN	M	367;364;328	ENSP00000289004:L367M;ENSP00000441677:L328M	ENSP00000289004:L367M	L	-	1	2	HPD	120762100	1.000000	0.71417	0.973000	0.42090	0.514000	0.34195	3.140000	0.50585	1.315000	0.45114	0.462000	0.41574	CTG		0.607	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402184.1	NM_002150		7	51	1	0	0.000157383	1	0.000157383	7	51				
XKR4	114786	broad.mit.edu	37	8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:56436491G>A	ENST00000327381.6	+	3	1758	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	553						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1657-1659)cGc>cAc		XK, Kell blood group complex subunit-related family, member 4							66.0	68.0	68.0					8																	56436491		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436491G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1658G>A	8.37:g.56436491G>A	ENSP00000328326:p.Arg553His						p.R553H	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1758	+			553					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1658G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369632	0.61624	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.84730	-1.89	5.95	5.95	0.96441	.	0.366493	0.32655	N	0.005816	D	0.89989	0.6875	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88742	0.3244	10	0.45353	T	0.12	0.8557	20.3931	0.98965	0.0:0.0:1.0:0.0	.	553	Q5GH76	XKR4_HUMAN	H	553	ENSP00000328326:R553H	ENSP00000328326:R553H	R	+	2	0	XKR4	56599045	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	7.876000	0.87215	2.824000	0.97209	0.655000	0.94253	CGC		0.592	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		4	82	0	0	0	1	0	4	82				
CACNA1E	777	broad.mit.edu	37	1	181759691	181759691	+	Splice_Site	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:181759691T>C	ENST00000367573.2	+	44	5897	c.5897T>C	c.(5896-5898)cTg>cCg	p.L1966P	CACNA1E_ENST00000526775.1_Splice_Site_p.L1947P|CACNA1E_ENST00000367570.1_Splice_Site_p.L1966P|CACNA1E_ENST00000358338.5_Splice_Site_p.L1898P|CACNA1E_ENST00000367567.4_Splice_Site_p.L1573P|CACNA1E_ENST00000360108.3_Splice_Site_p.L1947P|CACNA1E_ENST00000357570.5_Splice_Site_p.L1917P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1966					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGCAGTCTCTGGTGAATGCA	0.463																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.e43+1		calcium channel, voltage-dependent, R type, alpha 1E subunit							76.0	79.0	78.0					1																	181759691		1896	4114	6010	SO:0001630	splice_region_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181759691T>C	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5898+1T>C	1.37:g.181759691T>C						CACNA1E_ENST00000367567.4_Splice_Site_p.L1573_splice|CACNA1E_ENST00000358338.5_Splice_Site_p.L1898_splice|CACNA1E_ENST00000367573.2_Splice_Site_p.L1966_splice|CACNA1E_ENST00000360108.3_Splice_Site_p.L1947_splice|CACNA1E_ENST00000357570.5_Splice_Site_p.L1917_splice|CACNA1E_ENST00000367570.1_Splice_Site_p.L1966_splice	p.L1947_splice	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			43	6005	+			1966					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Splice_Site	SNP	ENST00000367573.2	37	c.5841_splice	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.850377	0.51270	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96427	-3.94;-3.95;-3.93;-3.95;-4.01;-3.94;-3.94	5.54	5.54	0.83059	.	0.911579	0.09287	N	0.822874	D	0.95990	0.8694	N	0.14661	0.345	0.53688	D	0.99997	D;D	0.69078	0.994;0.997	P;D	0.80764	0.808;0.994	D	0.92178	0.5749	10	0.27785	T	0.31	.	15.3394	0.74284	0.0:0.0:0.0:1.0	.	1947;1966	Q15878-2;Q15878-3	.;.	P	1966;1947;1917;1898;1573;1947;1966	ENSP00000356542:L1966P;ENSP00000434814:L1947P;ENSP00000350183:L1917P;ENSP00000351101:L1898P;ENSP00000356539:L1573P;ENSP00000353222:L1947P;ENSP00000356545:L1966P	ENSP00000350183:L1917P	L	+	2	0	CACNA1E	180026314	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.317000	0.65822	2.098000	0.63641	0.533000	0.62120	CTG		0.463	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	Missense_Mutation	4	37	0	0	0	1	0	4	37				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	20	0	0	0	1	0	16	20				
FOXA1	3169	broad.mit.edu	37	14	38061329	38061329	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:38061329G>C	ENST00000250448.2	-	2	721	c.660C>G	c.(658-660)caC>caG	p.H220Q	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H187Q	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	220					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGACAGCGAGTGGCGGATGG	0.607																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(658-660)caC>caG		forkhead box A1							48.0	48.0	48.0					14																	38061329		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061329G>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.660C>G	14.37:g.38061329G>C	ENSP00000250448:p.His220Gln					FOXA1_ENST00000540786.1_Missense_Mutation_p.H187Q|FOXA1_ENST00000545425.2_5'UTR	p.H220Q	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	721	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		220					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.660C>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751719	0.69533	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.97688	-4.49;-4.49	4.0	3.0	0.34707	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98406	1.0570	10	0.87932	D	0	.	10.6821	0.45821	0.1163:0.0:0.8837:0.0	.	220	P55317	FOXA1_HUMAN	Q	220;187	ENSP00000250448:H220Q;ENSP00000440178:H187Q	ENSP00000250448:H220Q	H	-	3	2	FOXA1	37131080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.081000	0.50120	2.057000	0.61298	0.400000	0.26472	CAC		0.607	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			22	33	0	0	0	1	0	22	33				
SAMD4A	23034	broad.mit.edu	37	14	55241684	55241684	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr14:55241684C>T	ENST00000554335.1	+	10	2411	c.1748C>T	c.(1747-1749)aCg>aTg	p.T583M	SAMD4A_ENST00000251091.5_Missense_Mutation_p.T495M|SAMD4A_ENST00000555192.1_Missense_Mutation_p.T174M|SAMD4A_ENST00000357634.3_Missense_Mutation_p.T582M|SAMD4A_ENST00000392067.3_Missense_Mutation_p.T583M			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	583					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCCCTCCCGACGGCTGGCTCT	0.607																																						ENST00000251091.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(1483-1485)aCg>aTg		sterile alpha motif domain containing 4A							50.0	50.0	50.0					14																	55241684		2203	4300	6503	SO:0001583	missense	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55241684C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1748C>T	14.37:g.55241684C>T	ENSP00000452535:p.Thr583Met					SAMD4A_ENST00000554335.1_Missense_Mutation_p.T583M|SAMD4A_ENST00000392067.3_Missense_Mutation_p.T583M|SAMD4A_ENST00000357634.3_Missense_Mutation_p.T582M|SAMD4A_ENST00000555192.1_Missense_Mutation_p.T174M	p.T495M	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN			8	1789	+			583					A8MPZ5|Q0VA96|Q6PEW4	Missense_Mutation	SNP	ENST00000554335.1	37	c.1484C>T	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209960	0.58343	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634;ENST00000555192	.	.	.	5.33	5.33	0.75918	.	0.053759	0.64402	D	0.000001	T	0.77471	0.4135	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;P	0.79784	0.993;0.967;0.908	T	0.75124	-0.3428	9	0.40728	T	0.16	-7.4993	19.2123	0.93760	0.0:1.0:0.0:0.0	.	174;495;583	G3V2R1;Q9UPU9-3;Q9UPU9	.;.;SMAG1_HUMAN	M	583;583;495;494;582;174	.	ENSP00000251091:T212M	T	+	2	0	SAMD4A	54311434	1.000000	0.71417	0.329000	0.25429	0.270000	0.26580	7.254000	0.78329	2.771000	0.95319	0.561000	0.74099	ACG		0.607	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	NM_015589		4	44	0	0	0	1	0	4	44				
WDR5B	54554	broad.mit.edu	37	3	122134323	122134323	+	Missense_Mutation	SNP	G	G	A	rs147814589		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:122134323G>A	ENST00000330689.4	-	1	559	c.53C>T	c.(52-54)tCg>tTg	p.S18L	RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	18										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTGATTGGCCGATGAGGAGAG	0.502																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(52-54)tCg>tTg		WD repeat domain 5B		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	130.0	127.0	128.0		53	1.8	0.0	3	dbSNP_134	128	0,8600		0,0,4300	no	missense	WDR5B	NM_019069.3	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	18/331	122134323	2,13004	2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134323G>A	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.53C>T	3.37:g.122134323G>A	ENSP00000330381:p.Ser18Leu						p.S18L	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	559	-			18					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.53C>T	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371416	0.42003	4.54E-4	0.0	ENSG00000196981	ENST00000330689	T	0.51574	0.7	4.54	1.75	0.24633	WD40 repeat-like-containing domain (1);	0.303180	0.37483	N	0.002065	T	0.23532	0.0569	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	10	0.87932	D	0	.	5.577	0.17228	0.1751:0.0:0.6661:0.1587	.	18	Q86VZ2	WDR5B_HUMAN	L	18	ENSP00000330381:S18L	ENSP00000330381:S18L	S	-	2	0	WDR5B	123617013	0.534000	0.26362	0.000000	0.03702	0.010000	0.07245	3.921000	0.56454	0.266000	0.21894	0.563000	0.77884	TCG		0.502	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		4	152	0	0	0	1	0	4	152				
OR10X1	128367	broad.mit.edu	37	1	158549149	158549149	+	Silent	SNP	T	T	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:158549149T>G	ENST00000368150.1	-	1	540	c.541A>C	c.(541-543)Agg>Cgg	p.R181R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AAAGAGTCCCTGAATATCAGT	0.438																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(541-543)Agg>Cgg		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							62.0	63.0	63.0					1																	158549149		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549149T>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.541A>C	1.37:g.158549149T>G							p.R181R	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	540	-	all_hematologic(112;0.0378)		181					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.541A>C	CCDS30900.1																																																																																				0.438	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		3	36	0	0	0	1	0	3	36				
CTNNB1	1499	broad.mit.edu	37	3	41266227	41266227	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:41266227C>T	ENST00000349496.5	+	3	504	c.224C>T	c.(223-225)aCt>aTt	p.T75I	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T75I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T68I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	75					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CAGTCCTTCACTCAAGAACAA	0.393		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	104	Deletion - In frame(83)|Complex - deletion inframe(14)|Unknown(7)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M1_A87del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	liver(75)|large_intestine(16)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(223-225)aCt>aTt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						40.0	41.0	41.0					3																	41266227		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266227C>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.224C>T	3.37:g.41266227C>T	ENSP00000344456:p.Thr75Ile					CTNNB1_ENST00000405570.1_Missense_Mutation_p.T75I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T75I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T68I	p.T75I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	504	+			75					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.224C>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.579872	0.46006	.	.	ENSG00000168036	ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.91	5.91	0.95273	.	0.091067	0.85682	D	0.000000	T	0.46756	0.1409	L	0.46157	1.445	0.58432	D	0.999995	B	0.24368	0.102	B	0.22601	0.04	T	0.28522	-1.0041	10	0.42905	T	0.14	-23.0591	20.2983	0.98569	0.0:1.0:0.0:0.0	.	75	P35222	CTNB1_HUMAN	I	75;75;75;75;68;75;75;75	ENSP00000385604:T75I;ENSP00000412219:T75I;ENSP00000379486:T75I;ENSP00000344456:T75I;ENSP00000411226:T68I;ENSP00000379488:T75I;ENSP00000409302:T75I;ENSP00000401599:T75I	ENSP00000344456:T75I	T	+	2	0	CTNNB1	41241231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.874000	0.69652	2.802000	0.96397	0.655000	0.94253	ACT		0.393	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	29	0	0	0	1	0	5	29				
ASH2L	9070	broad.mit.edu	37	8	37963943	37963943	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:37963943C>G	ENST00000343823.6	+	2	545	c.236C>G	c.(235-237)tCt>tGt	p.S79C	ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'UTR|ASH2L_ENST00000428278.2_5'UTR|ASH2L_ENST00000250635.7_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	79	DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S79C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ACAGAATCATCTAATGGAAAA	0.323																																						ENST00000343823.6																			1	Substitution - Missense(1)	p.S79C(1)	NS(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19						c.(235-237)tCt>tGt		ash2 (absent, small, or homeotic)-like (Drosophila)							147.0	150.0	149.0					8																	37963943		2203	4300	6503	SO:0001583	missense	9070				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	g.chr8:37963943C>G	AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.236C>G	8.37:g.37963943C>G	ENSP00000340896:p.Ser79Cys					ASH2L_ENST00000250635.7_5'UTR|ASH2L_ENST00000545394.1_5'UTR|ASH2L_ENST00000521652.1_5'UTR|ASH2L_ENST00000428278.2_5'UTR	p.S79C	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN			2	545	+	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)	79					A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	ENST00000343823.6	37	c.236C>G	CCDS6101.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779594	0.90195	.	.	ENSG00000129691	ENST00000343823	T	0.25579	1.79	5.99	5.99	0.97316	.	0.111909	0.64402	D	0.000007	T	0.34571	0.0902	L	0.53249	1.67	0.80722	D	1	B	0.32693	0.38	B	0.39738	0.308	T	0.06356	-1.0831	10	0.66056	D	0.02	.	17.3945	0.87441	0.0:1.0:0.0:0.0	.	79	Q9UBL3	ASH2L_HUMAN	C	79	ENSP00000340896:S79C	ENSP00000340896:S79C	S	+	2	0	ASH2L	38083100	0.972000	0.33761	0.941000	0.38009	0.918000	0.54935	6.151000	0.71806	2.840000	0.97914	0.655000	0.94253	TCT		0.323	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376749.4	NM_004674		5	181	0	0	0	1	0	5	181				
SLC12A9	56996	broad.mit.edu	37	7	100457538	100457538	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr7:100457538C>T	ENST00000354161.3	+	8	1134	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R248C|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R248C	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	337					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.R337S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGGTTCTTCCGCGCCATCAG	0.582																																						ENST00000354161.3																			1	Substitution - Missense(1)	p.R337S(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1009-1011)Cgc>Tgc		solute carrier family 12, member 9							113.0	108.0	110.0					7																	100457538		2203	4300	6503	SO:0001583	missense	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100457538C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1009C>T	7.37:g.100457538C>T	ENSP00000275730:p.Arg337Cys					SLC12A9_ENST00000540482.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R248C|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R248C|SLC12A9_ENST00000428758.1_Missense_Mutation_p.R337C|SLC12A9_ENST00000475623.1_3'UTR	p.R337C	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			8	1134	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		337					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Missense_Mutation	SNP	ENST00000354161.3	37	c.1009C>T	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573999	0.65765	.	.	ENSG00000146828	ENST00000540482;ENST00000418037;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675	D;D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	4.7	4.7	0.59300	Amino acid permease domain (1);	0.191937	0.47093	D	0.000259	D	0.98353	0.9453	L	0.40543	1.245	0.35123	D	0.767192	D;D	0.71674	0.996;0.998	P;D	0.69479	0.894;0.964	D	0.99968	1.1925	10	0.66056	D	0.02	.	15.1568	0.72749	0.0:1.0:0.0:0.0	.	248;337	Q9BXP2-2;Q9BXP2	.;S12A9_HUMAN	C	337;73;337;248;248;337;145	ENSP00000443702:R337C;ENSP00000406560:R73C;ENSP00000408301:R337C;ENSP00000275729:R248C;ENSP00000413796:R248C;ENSP00000275730:R337C;ENSP00000410692:R145C	ENSP00000275729:R248C	R	+	1	0	SLC12A9	100295474	0.933000	0.31639	0.118000	0.21660	0.855000	0.48748	2.226000	0.42963	2.421000	0.82119	0.563000	0.77884	CGC		0.582	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		9	65	0	0	0	1	0	9	65				
KRT25	147183	broad.mit.edu	37	17	38910708	38910708	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr17:38910708T>C	ENST00000312150.4	-	2	502	c.442A>G	c.(442-444)Acc>Gcc	p.T148A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGCTGGTGGTGGATGCGATG	0.373																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(442-444)Acc>Gcc		keratin 25							132.0	127.0	129.0					17																	38910708		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910708T>C	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.442A>G	17.37:g.38910708T>C	ENSP00000310573:p.Thr148Ala						p.T148A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			2	502	-		Breast(137;0.00526)	148			Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.442A>G	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843059	0.71488	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88586	-2.4	5.91	5.91	0.95273	Filament (1);	0.000000	0.64402	D	0.000004	D	0.91422	0.7293	M	0.73962	2.25	0.38517	D	0.948613	P	0.46277	0.875	P	0.51742	0.678	D	0.92871	0.6314	10	0.66056	D	0.02	.	11.4289	0.50027	0.1346:0.0:0.0:0.8654	.	148	Q7Z3Z0	K1C25_HUMAN	A	148	ENSP00000310573:T148A	ENSP00000310573:T148A	T	-	1	0	KRT25	36164234	0.999000	0.42202	1.000000	0.80357	0.701000	0.40568	1.599000	0.36751	2.261000	0.74972	0.533000	0.62120	ACC		0.373	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		4	36	0	0	0	1	0	4	36				
YIPF5	81555	broad.mit.edu	37	5	143545158	143545158	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:143545158C>G	ENST00000274496.5	-	3	255	c.121G>C	c.(121-123)Ggc>Cgc	p.G41R	YIPF5_ENST00000448443.2_Missense_Mutation_p.G41R|YIPF5_ENST00000513112.1_5'UTR	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	41					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TAGTCATAGCCAGCATACTGT	0.403																																						ENST00000274496.5																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9						c.(121-123)Ggc>Cgc		Yip1 domain family, member 5							128.0	115.0	120.0					5																	143545158		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143545158C>G	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.121G>C	5.37:g.143545158C>G	ENSP00000274496:p.Gly41Arg					YIPF5_ENST00000513112.1_5'UTR|YIPF5_ENST00000448443.2_Missense_Mutation_p.G41R	p.G41R	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	255	-		all_hematologic(541;0.118)	41					D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.121G>C	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735408	0.30774	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000536767	T;T	0.30981	1.51;1.51	5.72	4.85	0.62838	.	0.181657	0.50627	D	0.000115	T	0.25568	0.0622	L	0.53249	1.67	0.80722	D	1	B	0.29862	0.259	B	0.26614	0.071	T	0.04737	-1.0930	10	0.15952	T	0.53	-6.6212	9.9202	0.41459	0.1378:0.7927:0.0:0.0695	.	41	Q969M3	YIPF5_HUMAN	R	41	ENSP00000274496:G41R;ENSP00000397704:G41R	ENSP00000274496:G41R	G	-	1	0	YIPF5	143525351	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	2.221000	0.42917	1.559000	0.49555	-0.145000	0.13849	GGC		0.403	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		10	43	0	0	0	1	0	10	43				
SLC29A2	3177	broad.mit.edu	37	11	66133974	66133974	+	Missense_Mutation	SNP	C	C	A	rs8187657		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:66133974C>A	ENST00000357440.2	-	8	1023	c.795G>T	c.(793-795)gaG>gaT	p.E265D	SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000546034.1_Missense_Mutation_p.E265D|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E265D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	265					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CCGGCTCCTTCTCCAGGTCAA	0.562																																						ENST00000357440.2																			0				breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(793-795)gaG>gaT		solute carrier family 29 (equilibrative nucleoside transporter), member 2							66.0	61.0	62.0					11																	66133974		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66133974C>A	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.795G>T	11.37:g.66133974C>A	ENSP00000350024:p.Glu265Asp					SLC29A2_ENST00000546034.1_Missense_Mutation_p.E265D|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.E265D	p.E265D	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN			8	1023	-			265					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.795G>T	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	8.467	0.856622	0.17106	.	.	ENSG00000174669	ENST00000357440;ENST00000544554;ENST00000546034	T;T;T	0.55760	0.5;0.5;0.5	4.4	2.51	0.30379	.	0.330822	0.28828	N	0.014009	T	0.41789	0.1174	L	0.32530	0.975	0.27026	N	0.964347	P	0.47545	0.897	P	0.48488	0.579	T	0.22906	-1.0203	10	0.15066	T	0.55	-11.4288	6.9268	0.24419	0.0:0.7879:0.0:0.2121	.	265	Q14542	S29A2_HUMAN	D	265	ENSP00000350024:E265D;ENSP00000439456:E265D;ENSP00000440329:E265D	ENSP00000350024:E265D	E	-	3	2	SLC29A2	65890550	0.997000	0.39634	0.978000	0.43139	0.016000	0.09150	0.795000	0.26972	0.610000	0.30035	0.551000	0.68910	GAG		0.562	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		14	38	1	0	5.01169e-05	1	5.07942e-05	14	38				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	41	0	0	0	1	0	4	41				
WHSC1L1	54904	broad.mit.edu	37	8	38205427	38205427	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr8:38205427G>C	ENST00000317025.8	-	2	780	c.263C>G	c.(262-264)tCa>tGa	p.S88*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S88*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	88					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTGATTATATGACTGGTATTT	0.408			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(262-264)tCa>tGa		Wolf-Hirschhorn syndrome candidate 1-like 1							219.0	204.0	209.0					8																	38205427		2203	4300	6503	SO:0001587	stop_gained	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205427G>C	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.263C>G	8.37:g.38205427G>C	ENSP00000313983:p.Ser88*					WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000433384.2_Nonsense_Mutation_p.S88*|WHSC1L1_ENST00000316985.3_Nonsense_Mutation_p.S88*	p.S88*	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	780	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	88					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Nonsense_Mutation	SNP	ENST00000317025.8	37	c.263C>G	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	37	6.469857	0.97594	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000527502;ENST00000316985;ENST00000529223	.	.	.	5.69	5.69	0.88448	.	0.542344	0.14944	U	0.289303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	17.9873	0.89159	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000313410:S88X	S	-	2	0	WHSC1L1	38324584	0.987000	0.35691	0.995000	0.50966	0.938000	0.57974	5.754000	0.68743	2.658000	0.90341	0.655000	0.94253	TCA		0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		15	393	0	0	0	1	0	15	393				
JMY	133746	broad.mit.edu	37	5	78587011	78587011	+	Silent	SNP	G	G	A	rs373926091		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr5:78587011G>A	ENST00000396137.4	+	4	1878	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A		NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	472					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CATGGGCAGCGGCTGCTGAAC	0.388																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(1414-1416)gcG>gcA		junction mediating and regulatory protein, p53 cofactor		G		0,3738		0,0,1869	74.0	73.0	73.0		1416	-1.8	1.0	5		73	1,8187		0,1,4093	no	coding-synonymous	JMY	NM_152405.4		0,1,5962	AA,AG,GG		0.0122,0.0,0.0084		472/989	78587011	1,11925	1869	4094	5963	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78587011G>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.1416G>A	5.37:g.78587011G>A							p.A472A	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	4	1878	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	472					A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.1416G>A	CCDS4047.3																																																																																				0.388	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		13	50	0	0	0	1	0	13	50				
RAD18	56852	broad.mit.edu	37	3	9000636	9000636	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr3:9000636A>G	ENST00000264926.2	-	2	217	c.101T>C	c.(100-102)aTt>aCt	p.I34T	RAD18_ENST00000495087.1_Intron	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	34					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TATCATTGCAATGTTGAAATA	0.323								Rad6 pathway																														ENST00000264926.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15						c.(100-102)aTt>aCt	Rad6 pathway	RAD18 homolog (S. cerevisiae)							163.0	152.0	156.0					3																	9000636		2203	4298	6501	SO:0001583	missense	56852				DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding	g.chr3:9000636A>G		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.101T>C	3.37:g.9000636A>G	ENSP00000264926:p.Ile34Thr					RAD18_ENST00000495087.1_Intron	p.I34T	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0552)	2	217	-			34					Q58F55|Q9NRT6	Missense_Mutation	SNP	ENST00000264926.2	37	c.101T>C	CCDS2571.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.325305	0.60743	.	.	ENSG00000070950	ENST00000264926;ENST00000413832	T;T	0.16073	2.37;2.37	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	N	0.01535	-0.81	0.53005	D	0.999969	B	0.25486	0.127	B	0.40982	0.345	T	0.45948	-0.9226	10	0.13853	T	0.58	2.4228	14.5226	0.67863	1.0:0.0:0.0:0.0	.	34	Q9NS91	RAD18_HUMAN	T	34	ENSP00000264926:I34T;ENSP00000412261:I34T	ENSP00000264926:I34T	I	-	2	0	RAD18	8975636	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.337000	0.59310	2.371000	0.80710	0.533000	0.62120	ATT		0.323	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207071.2	NM_020165		40	289	0	0	0	1	0	40	289				
OR8S1	341568	broad.mit.edu	37	12	48919555	48919555	+	Silent	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:48919555C>T	ENST00000310194.1	+	1	141	c.141C>T	c.(139-141)ctC>ctT	p.L47L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGCTGCTGCTCATGATCAGGG	0.498																																						ENST00000310194.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						c.(139-141)ctC>ctT		olfactory receptor, family 8, subfamily S, member 1							196.0	186.0	190.0					12																	48919555		2203	4300	6503	SO:0001819	synonymous_variant	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48919555C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.141C>T	12.37:g.48919555C>T						OR8S1_ENST00000551654.1_Intron	p.L47L	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN			1	141	+			47						Silent	SNP	ENST00000310194.1	37	c.141C>T	CCDS31789.1																																																																																				0.498	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			9	96	0	0	0	1	0	9	96				
FAT3	120114	broad.mit.edu	37	11	92616460	92616460	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr11:92616460G>A	ENST00000298047.6	+	23	12855	c.12838G>A	c.(12838-12840)Gtg>Atg	p.V4280M	FAT3_ENST00000409404.2_Missense_Mutation_p.V4280M|FAT3_ENST00000533797.1_Missense_Mutation_p.V615M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4130M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4280					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGCGGGGCGTGGTCGTGTG	0.662										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12838-12840)Gtg>Atg		FAT atypical cadherin 3							36.0	45.0	42.0					11																	92616460		2106	4206	6312	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616460G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12838G>A	11.37:g.92616460G>A	ENSP00000298047:p.Val4280Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V4280M|FAT3_ENST00000533797.1_Missense_Mutation_p.V615M|FAT3_ENST00000525166.1_Missense_Mutation_p.V4130M	p.V4280M			Q8TDW7	FAT3_HUMAN			23	12855	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4280					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12838G>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.715871	0.89112	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.89270	-1.03;-1.14;-1.04;-2.49	5.85	5.85	0.93711	.	.	.	.	.	D	0.94703	0.8291	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69142	0.935;0.962	D	0.93987	0.7263	9	0.51188	T	0.08	.	20.161	0.98133	0.0:0.0:1.0:0.0	.	4280;4280	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	M	4280;4280;4130;615	ENSP00000298047:V4280M;ENSP00000387040:V4280M;ENSP00000432586:V4130M;ENSP00000436399:V615M	ENSP00000298047:V4280M	V	+	1	0	FAT3	92256108	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	7.891000	0.87319	2.770000	0.95276	0.655000	0.94253	GTG		0.662	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	47	0	0	0	1	0	6	47				
OR2C1	4993	broad.mit.edu	37	16	3405944	3405944	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr16:3405944G>T	ENST00000304936.2	+	1	56	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	2					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)	cell cortex (GO:0005938)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACCAGTGATGGACGGGGTGAA	0.458																																						ENST00000304936.2																			0				kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(4-6)Gac>Tac		olfactory receptor, family 2, subfamily C, member 1							69.0	64.0	66.0					16																	3405944		2197	4300	6497	SO:0001583	missense	4993				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3405944G>T	AF098664	CCDS10502.1	16p13.3	2012-08-09			ENSG00000168158	ENSG00000168158		"""GPCR / Class A : Olfactory receptors"""	8242	protein-coding gene	gene with protein product				OR2C2P		9847080	Standard	NM_012368		Approved	OLFmf3	uc002cuw.1	O95371	OTTHUMG00000090505	ENST00000304936.2:c.4G>T	16.37:g.3405944G>T	ENSP00000307726:p.Asp2Tyr						p.D2Y	NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN			1	56	+			2					A0AVA4|Q6IF34|Q6IF55	Missense_Mutation	SNP	ENST00000304936.2	37	c.4G>T	CCDS10502.1	.	.	.	.	.	.	.	.	.	.	g	10.57	1.388652	0.25118	.	.	ENSG00000168158	ENST00000304936	T	0.03124	4.04	4.49	1.34	0.21922	.	2.094040	0.02646	N	0.105892	T	0.05181	0.0138	L	0.49778	1.585	0.18873	N	0.999983	P	0.34462	0.454	B	0.28232	0.087	T	0.39313	-0.9620	10	0.72032	D	0.01	.	6.3037	0.21127	0.1815:0.1538:0.6648:0.0	.	2	O95371	OR2C1_HUMAN	Y	2	ENSP00000307726:D2Y	ENSP00000307726:D2Y	D	+	1	0	OR2C1	3345945	0.369000	0.25039	0.040000	0.18447	0.015000	0.08874	0.461000	0.21940	0.503000	0.28060	0.509000	0.49947	GAC		0.458	OR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206993.3			5	24	1	0	1.23904e-05	1	1.27299e-05	5	24				
SNX5	27131	broad.mit.edu	37	20	17934737	17934737	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr20:17934737C>T	ENST00000377768.3	-	5	604	c.292G>A	c.(292-294)Gac>Aac	p.D98N	SNX5_ENST00000377759.4_Missense_Mutation_p.D98N|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	98	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)|pinocytosis (GO:0006907)	cytoplasmic vesicle (GO:0031410)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|extrinsic component of endosome membrane (GO:0031313)|macropinocytic cup (GO:0070685)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CCATCAAAGTCGGGCTTCGTA	0.488																																						ENST00000377768.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						c.(292-294)Gac>Aac		sorting nexin 5							122.0	119.0	120.0					20																	17934737		2203	4300	6503	SO:0001583	missense	27131				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	g.chr20:17934737C>T	AF121855	CCDS13130.1	20p11	2008-05-22			ENSG00000089006	ENSG00000089006		"""Sorting nexins"""	14969	protein-coding gene	gene with protein product		605937				10600472, 17148574	Standard	NM_152227		Approved		uc002wqc.3	Q9Y5X3	OTTHUMG00000031953	ENST00000377768.3:c.292G>A	20.37:g.17934737C>T	ENSP00000366998:p.Asp98Asn					SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.D98N	p.D98N	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN			5	604	-			98			PX.		B7ZKN3|D3DW26|Q52LC4|Q7KZN0|Q9BWP0	Missense_Mutation	SNP	ENST00000377768.3	37	c.292G>A	CCDS13130.1	.	.	.	.	.	.	.	.	.	.	C	35	5.571860	0.96553	.	.	ENSG00000089006	ENST00000377768;ENST00000377759;ENST00000431277;ENST00000419004	T;T;T;T	0.39997	1.33;1.33;1.05;1.33	5.6	5.6	0.85130	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.70595	2.14	0.80722	D	1	P;D	0.67145	0.705;0.996	B;D	0.64237	0.289;0.923	T	0.60561	-0.7239	10	0.41790	T	0.15	-11.6248	19.9784	0.97317	0.0:1.0:0.0:0.0	.	119;98	B7Z476;Q9Y5X3	.;SNX5_HUMAN	N	98;98;61;63	ENSP00000366998:D98N;ENSP00000366988:D98N;ENSP00000404448:D61N;ENSP00000406731:D63N	ENSP00000366988:D98N	D	-	1	0	SNX5	17882737	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	7.755000	0.85180	2.800000	0.96347	0.455000	0.32223	GAC		0.488	SNX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078137.4			14	58	0	0	0	1	0	14	58				
GPR115	221393	broad.mit.edu	37	6	47680273	47680273	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr6:47680273G>A	ENST00000283303.2	+	5	739	c.481G>A	c.(481-483)Gca>Aca	p.A161T	GPR115_ENST00000327753.3_Missense_Mutation_p.A161T|GPR115_ENST00000371220.1_Missense_Mutation_p.A218T|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	161					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAATATTGCATTTATAGT	0.333																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(481-483)Gca>Aca		G protein-coupled receptor 115							89.0	92.0	91.0					6																	47680273		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47680273G>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.481G>A	6.37:g.47680273G>A	ENSP00000283303:p.Ala161Thr					GPR115_ENST00000371220.1_Missense_Mutation_p.A218T|GPR115_ENST00000327753.3_Missense_Mutation_p.A161T	p.A161T	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			5	739	+			161					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.481G>A	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	30	5.054457	0.93793	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.37058	1.46;1.22;1.22	5.78	5.78	0.91487	.	0.080213	0.53938	D	0.000052	T	0.55721	0.1938	M	0.78637	2.42	0.39545	D	0.968884	D	0.89917	1.0	D	0.74348	0.983	T	0.59005	-0.7535	10	0.66056	D	0.02	-17.2952	17.1742	0.86837	0.0:0.0:1.0:0.0	.	161	Q8IZF3	GP115_HUMAN	T	218;161;161	ENSP00000360264:A218T;ENSP00000328319:A161T;ENSP00000283303:A161T	ENSP00000283303:A161T	A	+	1	0	GPR115	47788232	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.916000	0.69981	2.738000	0.93877	0.655000	0.94253	GCA		0.333	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		7	47	0	0	0	1	0	7	47				
COL13A1	1305	broad.mit.edu	37	10	71634886	71634886	+	Silent	SNP	G	G	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr10:71634886G>A	ENST00000398978.3	+	5	894	c.402G>A	c.(400-402)ggG>ggA	p.G134G	COL13A1_ENST00000398971.3_Silent_p.G134G|COL13A1_ENST00000356340.3_Silent_p.G134G|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398973.3_Silent_p.G134G|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398966.3_Silent_p.G134G|COL13A1_ENST00000357811.3_Silent_p.G134G|COL13A1_ENST00000522165.1_Silent_p.G134G|COL13A1_ENST00000398968.3_Silent_p.G134G|COL13A1_ENST00000398972.3_Silent_p.G134G|COL13A1_ENST00000354547.3_Silent_p.G134G|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000517713.1_Silent_p.G134G	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						ATCATCAGGGGGACAAAGGTG	0.547																																						ENST00000356340.3																			0				endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(400-402)ggG>ggA		collagen, type XIII, alpha 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						199.0	209.0	206.0					10																	71634886		2165	4262	6427	SO:0001819	synonymous_variant	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71634886G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.402G>A	10.37:g.71634886G>A						COL13A1_ENST00000398972.3_Silent_p.G134G|COL13A1_ENST00000398968.3_Silent_p.G134G|COL13A1_ENST00000398966.3_Silent_p.G134G|COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000517713.1_Silent_p.G134G|COL13A1_ENST00000398971.3_Silent_p.G134G|COL13A1_ENST00000398974.3_Intron|COL13A1_ENST00000354547.3_Silent_p.G134G|COL13A1_ENST00000398973.3_Silent_p.G134G|COL13A1_ENST00000522165.1_Silent_p.G134G|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000357811.3_Silent_p.G134G|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398978.3_Silent_p.G134G	p.G134G			Q5TAT6	CODA1_HUMAN			4	938	+			134			Triple-helical region 1 (COL1).			Silent	SNP	ENST00000398978.3	37	c.402G>A	CCDS44419.1																																																																																				0.547	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		5	22	0	0	0	1	0	5	22				
YBX1	4904	broad.mit.edu	37	1	43162925	43162925	+	Silent	SNP	A	A	C			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr1:43162925A>C	ENST00000321358.7	+	6	871	c.732A>C	c.(730-732)cgA>cgC	p.R244R		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	244					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATAGACCACGATTCCGCAGGT	0.448																																						ENST00000321358.7																			0				large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16						c.(730-732)cgA>cgC		Y box binding protein 1							105.0	87.0	93.0					1																	43162925		2203	4300	6503	SO:0001819	synonymous_variant	4904				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:43162925A>C	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.732A>C	1.37:g.43162925A>C							p.R244R	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN			6	871	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	244					P16990|P16991|Q14972|Q15325|Q5FVF0	Silent	SNP	ENST00000321358.7	37	c.732A>C	CCDS470.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376437	0.24857	.	.	ENSG00000065978	ENST00000318612;ENST00000436427	.	.	.	5.6	4.49	0.54785	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33111	-0.9881	5	0.15066	T	0.55	-0.3923	9.0537	0.36392	0.9136:0.0:0.0864:0.0	.	.	.	.	A	235;294	.	ENSP00000361621:D235A	D	+	2	0	YBX1	42935512	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.361000	0.44160	2.120000	0.65058	0.460000	0.39030	GAT		0.448	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		11	41	0	0	0	1	0	11	41				
PTMS	5763	broad.mit.edu	37	12	6878832	6878834	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr12:6878832_6878834delGTG	ENST00000309083.6	+	2	438_440	c.109_111delGTG	c.(109-111)gtgdel	p.V38del	LAG3_ENST00000203629.2_5'Flank|PTMS_ENST00000389462.4_In_Frame_Del_p.V38del|LAG3_ENST00000441671.2_5'Flank|PTMS_ENST00000538057.1_3'UTR|MLF2_ENST00000539187.1_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	38	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|liver(1)	5						aaagaaagaagtggtggaggTGT	0.547																																						ENST00000309083.6																			0				endometrium(2)|large_intestine(2)|liver(1)	5						c.(109-111)del		parathymosin																																				SO:0001651	inframe_deletion	5763				DNA replication	nucleus		g.chr12:6878832_6878834delGTG		CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.109_111delGTG	12.37:g.6878835_6878837delGTG	ENSP00000310088:p.Val38del					PTMS_ENST00000538057.1_3'UTR|PTMS_ENST00000389462.4_In_Frame_Del_p.V38del	p.V38del	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN			2	438_440	+			38			Asp/Glu-rich (acidic).			In_Frame_Del	DEL	ENST00000309083.6	37	c.109_111delGTG	CCDS8560.1																																																																																				0.547	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402841.1			12	19						12	19	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39623766	39623767	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr18:39623766_39623767insA	ENST00000262039.4	+	20	2259_2260	c.2173_2174insA	c.(2173-2175)tacfs	p.Y725fs	PIK3C3_ENST00000589056.1_Frame_Shift_Ins_p.Y72fs|PIK3C3_ENST00000587402.1_Frame_Shift_Ins_p.Y72fs|PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.Y662fs|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.Y210fs	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	725	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CATGGACACTTACGTTAAAAGC	0.347										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	ENST00000262039.4																			0				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						c.(2173-2175)cgtfs		phosphatidylinositol 3-kinase, catalytic subunit type 3																																				SO:0001589	frameshift_variant	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39623766_39623767insA	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2174dupA	18.37:g.39623767_39623767dupA	ENSP00000262039:p.Tyr725fs	TSP Lung(28;0.18)				PIK3C3_ENST00000398870.3_Frame_Shift_Ins_p.R662fs|PIK3C3_ENST00000589056.1_Frame_Shift_Ins_p.R72fs|PIK3C3_ENST00000587402.1_Frame_Shift_Ins_p.R72fs|PIK3C3_ENST00000593098.1_Frame_Shift_Ins_p.R210fs	p.R725fs	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN			20	2259_2260	+			725			PI3K/PI4K.		Q15134	Frame_Shift_Ins	INS	ENST00000262039.4	37	c.2173_2174insA	CCDS11920.1																																																																																				0.347	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		10	42						10	42	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20361340	20361341	+	RNA	INS	-	-	AA			TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr19:20361340_20361341insAA	ENST00000593655.1	-	0	199																											gagcttccttcaagttcacagt	0.401																																						ENST00000593655.1																			0																																																			0							g.chr19:20361340_20361341insAA																													19.37:g.20361341_20361342dupAA														0	199	-									RNA	INS	ENST00000593655.1	37																																																																																						0.401	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			4	9						4	9	---	---	---	---
OSBP2	23762	broad.mit.edu	37	22	31283571	31283571	+	Frame_Shift_Del	DEL	C	C	-	rs376362279		TCGA-ZG-A9LB-01A-11D-A41K-08	TCGA-ZG-A9LB-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a5fc1cb-2338-4eaf-a5d6-24a29c0b0f5f	c0926845-d8fd-48d3-bad4-797a1580d339	g.chr22:31283571delC	ENST00000332585.6	+	4	1370	c.1266delC	c.(1264-1266)ggcfs	p.G422fs	OSBP2_ENST00000382310.3_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000446658.2_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000401475.1_Frame_Shift_Del_p.G56fs|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000437268.2_Frame_Shift_Del_p.G164fs|OSBP2_ENST00000407373.1_Frame_Shift_Del_p.G249fs|OSBP2_ENST00000403222.3_Frame_Shift_Del_p.G257fs	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	422					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGCCCCTGGCCGGCCGGCCA	0.622																																						ENST00000332585.6																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						c.(1264-1266)ggfs		oxysterol binding protein 2							15.0	20.0	19.0					22																	31283571		2027	4171	6198	SO:0001589	frameshift_variant	23762				lipid transport	membrane	lipid binding	g.chr22:31283571delC		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1266delC	22.37:g.31283571delC	ENSP00000332576:p.Gly422fs					OSBP2_ENST00000382310.3_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000403222.3_Frame_Shift_Del_p.G257fs|OSBP2_ENST00000535268.1_5'UTR|OSBP2_ENST00000446658.2_Frame_Shift_Del_p.G422fs|OSBP2_ENST00000401475.1_Frame_Shift_Del_p.G56fs|OSBP2_ENST00000407373.1_Frame_Shift_Del_p.G249fs|OSBP2_ENST00000437268.2_Frame_Shift_Del_p.G164fs	p.G422fs	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN			4	1370	+			422					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Frame_Shift_Del	DEL	ENST00000332585.6	37	c.1266delC	CCDS43002.1																																																																																				0.622	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		2	4						2	4	---	---	---	---
