#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	146	0	0	0	1	0	6	146				
TMC3	342125	broad.mit.edu	37	15	81627158	81627158	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:81627158C>T	ENST00000359440.5	-	21	2497	c.2362G>A	c.(2362-2364)Gca>Aca	p.A788T	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.A789T|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGGACTGTGCGACTGTCTCT	0.607																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2365-2367)Gca>Aca		transmembrane channel-like 3							107.0	106.0	106.0					15																	81627158		2061	4208	6269	SO:0001583	missense	342125					integral to membrane		g.chr15:81627158C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2362G>A	15.37:g.81627158C>T	ENSP00000352413:p.Ala788Thr					RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A788T|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.A789T			Q7Z5M5	TMC3_HUMAN			21	2500	-			788						Missense_Mutation	SNP	ENST00000359440.5	37	c.2365G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	6.726	0.502660	0.12822	.	.	ENSG00000188869	ENST00000359440	T	0.62105	0.05	4.63	-9.26	0.00662	.	0.813116	0.09866	N	0.745582	T	0.31389	0.0795	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.18276	T	0.48	-0.5249	10.3078	0.43691	0.1709:0.662:0.0:0.1671	.	788	Q7Z5M5	TMC3_HUMAN	T	788	ENSP00000352413:A788T	ENSP00000352413:A788T	A	-	1	0	TMC3	79414213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.219000	0.09228	-1.584000	0.01636	-0.808000	0.03180	GCA		0.607	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		10	41	0	0	0	1	0	10	41				
FAM47A	158724	broad.mit.edu	37	X	34149054	34149054	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chrX:34149054G>A	ENST00000346193.3	-	1	1393	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	448										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCTTCACCCGGGCCTCACAA	0.562																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(1342-1344)Cgg>Tgg		family with sequence similarity 47, member A							43.0	46.0	45.0					X																	34149054		2064	4209	6273	SO:0001583	missense	158724							g.chrX:34149054G>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1342C>T	X.37:g.34149054G>A	ENSP00000345029:p.Arg448Trp						p.R448W	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1393	-			448					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1342C>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	13.97	2.394869	0.42512	.	.	ENSG00000185448	ENST00000346193	T	0.16597	2.33	0.866	-0.49	0.12049	.	.	.	.	.	T	0.27629	0.0679	L	0.50333	1.59	0.09310	N	1	D	0.76494	0.999	D	0.64877	0.93	T	0.11891	-1.0569	8	0.66056	D	0.02	.	.	.	.	.	448	Q5JRC9	FA47A_HUMAN	W	448	ENSP00000345029:R448W	ENSP00000345029:R448W	R	-	1	2	FAM47A	34058975	0.003000	0.15002	0.004000	0.12327	0.595000	0.36748	0.073000	0.14640	-0.200000	0.10300	0.287000	0.19450	CGG		0.562	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		17	23	0	0	0	1	0	17	23				
VTCN1	79679	broad.mit.edu	37	1	117699297	117699297	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:117699297A>G	ENST00000369458.3	-	3	422	c.344T>C	c.(343-345)tTg>tCg	p.L115S	VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTCAGCCGCAAAGAGGCATT	0.453																																						ENST00000369458.3																			0				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12						c.(343-345)tTg>tCg		V-set domain containing T cell activation inhibitor 1							100.0	95.0	97.0					1																	117699297		2203	4300	6503	SO:0001583	missense	79679					integral to membrane|plasma membrane		g.chr1:117699297A>G	BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.344T>C	1.37:g.117699297A>G	ENSP00000358470:p.Leu115Ser					VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S|VTCN1_ENST00000328189.3_Intron	p.L115S	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)	3	422	-	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)	115			Ig-like V-type 1.			Missense_Mutation	SNP	ENST00000369458.3	37	c.344T>C	CCDS894.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159271	0.78226	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000539893	T;T;T	0.16324	2.35;2.35;2.35	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000174	T	0.43322	0.1242	M	0.91872	3.25	0.42496	D	0.992917	D	0.89917	1.0	D	0.97110	1.0	T	0.56195	-0.8019	10	0.87932	D	0	-4.8015	14.3932	0.66994	1.0:0.0:0.0:0.0	.	115	Q7Z7D3	VTCN1_HUMAN	S	115;118;20	ENSP00000358470:L115S;ENSP00000351899:L118S;ENSP00000444724:L20S	ENSP00000351899:L118S	L	-	2	0	VTCN1	117500820	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.742000	0.74843	2.332000	0.79248	0.519000	0.50382	TTG		0.453	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000033500.2	NM_024626		27	17	0	0	0	1	0	27	17				
FLG	2312	broad.mit.edu	37	1	152275810	152275810	+	Missense_Mutation	SNP	G	G	A	rs150496930		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:152275810G>A	ENST00000368799.1	-	3	11587	c.11552C>T	c.(11551-11553)gCg>gTg	p.A3851V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3851	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGACCCCGCTGATTCACC	0.602									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11551-11553)gCg>gTg		filaggrin		G	VAL/ALA	0,4406		0,0,2203	198.0	205.0	203.0		11552	-1.0	0.0	1	dbSNP_134	203	2,8598	2.2+/-6.3	0,2,4298	no	missense	FLG	NM_002016.1	64	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	3851/4062	152275810	2,13004	2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275810G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11552C>T	1.37:g.152275810G>A	ENSP00000357789:p.Ala3851Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A3851V	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11587	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3851			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11552C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.684	0.310706	0.10733	0.0	2.33E-4	ENSG00000143631	ENST00000368799	T	0.03920	3.76	2.31	-1.02	0.10135	.	.	.	.	.	T	0.01124	0.0037	L	0.43152	1.355	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.47071	-0.9145	9	0.29301	T	0.29	.	2.6351	0.04955	0.2854:0.0:0.4926:0.2221	.	3851	P20930	FILA_HUMAN	V	3851	ENSP00000357789:A3851V	ENSP00000357789:A3851V	A	-	2	0	FLG	150542434	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.927000	0.00332	-0.228000	0.09869	-0.240000	0.12126	GCG		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		4	275	0	0	0	1	0	4	275				
CD209	30835	broad.mit.edu	37	19	7809881	7809881	+	Silent	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:7809881G>A	ENST00000315599.7	-	5	868	c.846C>T	c.(844-846)acC>acT	p.T282T	CD209_ENST00000394173.4_Silent_p.T121T|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000315591.8_Silent_p.T258T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000301357.8_Silent_p.T146T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	282	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGCAGGCGGTGATGGAGT	0.582																																						ENST00000315599.7																			1	Substitution - coding silent(1)	p.T282T(1)	large_intestine(1)	endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(844-846)acC>acT		CD209 molecule							89.0	84.0	86.0					19																	7809881		2203	4300	6503	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809881G>A	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.846C>T	19.37:g.7809881G>A						CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000315591.8_Silent_p.T258T|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000301357.8_Silent_p.T146T|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000394173.4_Silent_p.T121T	p.T282T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN			5	868	-			282			C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.846C>T	CCDS12186.1																																																																																				0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		3	47	0	0	0	1	0	3	47				
RBBP8NL	140893	broad.mit.edu	37	20	60987732	60987732	+	Silent	SNP	G	G	A	rs199665028		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr20:60987732G>A	ENST00000252998.1	-	13	1980	c.1824C>T	c.(1822-1824)caC>caT	p.H608H		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	608						extracellular space (GO:0005615)											GACCCTGCCCGTGCTCCTGGG	0.697																																						ENST00000252998.1																			0											c.(1822-1824)caC>caT		RBBP8 N-terminal like							62.0	63.0	63.0					20																	60987732		2202	4300	6502	SO:0001819	synonymous_variant	140893							g.chr20:60987732G>A	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1824C>T	20.37:g.60987732G>A							p.H608H	NM_080833.2	NP_543023.2					13	1980	-								B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	c.1824C>T	CCDS13498.1																																																																																				0.697	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080029.1	NM_080833		33	46	0	0	0	1	0	33	46				
COL12A1	1303	broad.mit.edu	37	6	75898204	75898204	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:75898204G>T	ENST00000322507.8	-	8	1180	c.871C>A	c.(871-873)Cct>Act	p.P291T	COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	291	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCAGTGAAGGTGTGGAGGCA	0.403																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(871-873)Cct>Act		collagen, type XII, alpha 1							169.0	153.0	158.0					6																	75898204		1944	4135	6079	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898204G>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.871C>A	6.37:g.75898204G>T	ENSP00000325146:p.Pro291Thr					COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T	p.P291T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			8	1180	-			291			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.871C>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245141	0.79912	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.79940	-1.32;-1.32;-1.32	6.06	6.06	0.98353	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.89959	0.6866	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89741	0.3933	10	0.87932	D	0	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	291	Q99715	COCA1_HUMAN	T	291	ENSP00000325146:P291T;ENSP00000412864:P291T;ENSP00000421216:P291T	ENSP00000325146:P291T	P	-	1	0	COL12A1	75954924	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.471000	0.97696	2.871000	0.98454	0.655000	0.94253	CCT		0.403	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	59	1	0	3.27435e-08	1	3.42319e-08	15	59				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	74	0	0	0	1	0	4	74				
NPHS2	7827	broad.mit.edu	37	1	179526176	179526176	+	Missense_Mutation	SNP	C	C	T	rs201355305		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:179526176C>T	ENST00000367615.4	-	5	792	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	242			A -> V. {ECO:0000269|PubMed:15253708}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCATCTTGGGCGATGCTCTTC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		22256	0.001		0.0	False		,,,				2504	0.0					ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(724-726)Gcc>Acc		nephrosis 2, idiopathic, steroid-resistant (podocin)							81.0	70.0	74.0					1																	179526176		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179526176C>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.724G>A	1.37:g.179526176C>T	ENSP00000356587:p.Ala242Thr					NPHS2_ENST00000367616.4_Intron	p.A242T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			5	792	-			242					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.724G>A	CCDS1331.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.6	4.749706	0.89753	.	.	ENSG00000116218	ENST00000367615	D	0.95554	-3.74	5.93	5.93	0.95920	Band 7/stomatin-like, conserved site (1);	0.185287	0.45867	D	0.000325	D	0.95510	0.8541	L	0.54323	1.7	0.80722	D	1	D	0.57899	0.981	P	0.54210	0.745	D	0.94623	0.7815	10	0.48119	T	0.1	-19.6119	13.197	0.59745	0.0:0.9238:0.0:0.0762	.	242	Q9NP85	PODO_HUMAN	T	242	ENSP00000356587:A242T	ENSP00000356587:A242T	A	-	1	0	NPHS2	177792799	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.970000	0.40520	2.826000	0.97356	0.655000	0.94253	GCC		0.368	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			3	48	0	0	0	1	0	3	48				
SPATA31C1	441452	broad.mit.edu	37	9	90535974	90535974	+	RNA	SNP	T	T	C			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:90535974T>C	ENST00000602681.1	+	0	1878							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTGGAGTAGCTTGCCCTGCGT	0.517																																						ENST00000602681.1																			0																				16.0	14.0	15.0					9																	90535974		692	1591	2283			0							g.chr9:90535974T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535974T>C														0	1878	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.517	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		39	155	0	0	0	1	0	39	155				
MAP1A	4130	broad.mit.edu	37	15	43817305	43817305	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:43817305G>A	ENST00000300231.5	+	4	4084	c.3634G>A	c.(3634-3636)Gtc>Atc	p.V1212I	MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I|MAP1A_ENST00000382031.1_Missense_Mutation_p.V1450I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1212					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCCCTGGATGTCTCTTCTAA	0.527																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(4348-4350)Gtc>Atc		microtubule-associated protein 1A	Estramustine(DB01196)						87.0	90.0	89.0					15																	43817305		1934	4128	6062	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43817305G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3634G>A	15.37:g.43817305G>A	ENSP00000300231:p.Val1212Ile					MAP1A_ENST00000300231.5_Missense_Mutation_p.V1212I|MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I	p.V1450I			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	4379	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1212					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.4348G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.115	-1.132930	0.01756	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01209	5.17;5.17;5.17	5.11	2.8	0.32819	.	.	.	.	.	T	0.00384	0.0012	N	0.00500	-1.43	0.19775	N	0.999953	B	0.02656	0.0	B	0.04013	0.001	T	0.44802	-0.9304	9	0.02654	T	1	-4.8221	3.8443	0.08928	0.6169:0.0:0.2288:0.1543	.	1212	P78559	MAP1A_HUMAN	I	1450;1212;1212	ENSP00000371462:V1450I;ENSP00000382380:V1212I;ENSP00000300231:V1212I	ENSP00000300231:V1212I	V	+	1	0	MAP1A	41604597	0.935000	0.31712	0.999000	0.59377	0.032000	0.12392	0.080000	0.14802	0.425000	0.26087	-1.087000	0.02190	GTC		0.527	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		11	45	0	0	0	1	0	11	45				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	88	0	0	0	1	0	8	88				
IL1RL2	8808	broad.mit.edu	37	2	102851427	102851427	+	Silent	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:102851427G>A	ENST00000264257.2	+	11	1494	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000441515.2_Silent_p.S338S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	456	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCCCGAATCGCTGGGCTTTG	0.493																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(1366-1368)tcG>tcA		interleukin 1 receptor-like 2							102.0	101.0	101.0					2																	102851427		2203	4300	6503	SO:0001819	synonymous_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102851427G>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1368G>A	2.37:g.102851427G>A						IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000441515.2_Silent_p.S338S|IL1RL2_ENST00000481806.1_3'UTR	p.S456S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			11	1494	+			456			TIR.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.1368G>A	CCDS2056.1																																																																																				0.493	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		4	58	0	0	0	1	0	4	58				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		48	30	0	0	0	1	0	48	30				
DDX23	9416	broad.mit.edu	37	12	49227280	49227280	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:49227280C>T	ENST00000308025.3	-	13	1662	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	528	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATCAATCAAACGCCCAGGGGT	0.498																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1582-1584)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							93.0	97.0	96.0					12																	49227280		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49227280C>T	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1583G>A	12.37:g.49227280C>T	ENSP00000310723:p.Arg528His						p.R528H	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			13	1662	-			528			Helicase ATP-binding.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1583G>A	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	C	33	5.274943	0.95459	.	.	ENSG00000174243	ENST00000308025	T	0.19938	2.11	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55097	0.1899	H	0.98612	4.28	0.80722	D	1	P	0.45672	0.864	P	0.47102	0.537	T	0.73017	-0.4115	10	0.87932	D	0	-7.3623	19.4154	0.94694	0.0:1.0:0.0:0.0	.	528	Q9BUQ8	DDX23_HUMAN	H	528	ENSP00000310723:R528H	ENSP00000310723:R528H	R	-	2	0	DDX23	47513547	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.746000	0.85057	2.884000	0.98904	0.655000	0.94253	CGT		0.498	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		6	111	0	0	0	1	0	6	111				
LTN1	26046	broad.mit.edu	37	21	30318165	30318165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr21:30318165C>T	ENST00000361371.5	-	21	3811	c.3732G>A	c.(3730-3732)tgG>tgA	p.W1244*	LTN1_ENST00000389194.2_Nonsense_Mutation_p.W1290*			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1244					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGATGAAGTCCCACTCACTCT	0.423																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(3730-3732)tgG>tgA		listerin E3 ubiquitin protein ligase 1							106.0	109.0	108.0					21																	30318165		2203	4300	6503	SO:0001587	stop_gained	26046						ligase activity|zinc ion binding	g.chr21:30318165C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3732G>A	21.37:g.30318165C>T	ENSP00000354977:p.Trp1244*					LTN1_ENST00000389194.2_Nonsense_Mutation_p.W1290*	p.W1244*	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			21	3882	-			1244					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Nonsense_Mutation	SNP	ENST00000361371.5	37	c.3732G>A		.	.	.	.	.	.	.	.	.	.	C	43	10.100404	0.99337	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0478	0.89338	0.0:1.0:0.0:0.0	.	.	.	.	X	1290;1244	.	ENSP00000354977:W1244X	W	-	3	0	LTN1	29240036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.850000	0.75420	2.492000	0.84095	0.591000	0.81541	TGG		0.423	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		14	32	0	0	0	1	0	14	32				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			28	49	0	0	0	1	0	28	49				
C11orf72	100505621	broad.mit.edu	37	11	67372458	67372458	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:67372458G>A	ENST00000333139.3	-	3	323	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NDUFV1_ENST00000322776.6_5'Flank|NDUFV1_ENST00000415352.2_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA|NDUFV1_ENST00000532303.1_5'Flank|C11orf72_ENST00000446232.1_Missense_Mutation_p.A28V|NDUFV1_ENST00000529927.1_5'Flank			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	28										central_nervous_system(1)|lung(2)|stomach(1)	4						GAGAAGCCTGGCAAGTAGGTG	0.577																																						ENST00000333139.3																			0				central_nervous_system(1)|lung(2)|stomach(1)	4						c.(82-84)gCc>gTc		chromosome 11 open reading frame 72							39.0	40.0	40.0					11																	67372458		2200	4295	6495	SO:0001583	missense	100505621							g.chr11:67372458G>A	AK075315		11q13.2	2011-05-24			ENSG00000184224	ENSG00000184224			26915	protein-coding gene	gene with protein product							Standard			Approved	FLJ90834	uc001omi.1	Q8NBR9	OTTHUMG00000156309	ENST00000333139.3:c.83C>T	11.37:g.67372458G>A	ENSP00000328640:p.Ala28Val					C11orf72_ENST00000446232.1_Missense_Mutation_p.A28V	p.A28V			Q8NBR9	CK072_HUMAN			3	323	-			28						Missense_Mutation	SNP	ENST00000333139.3	37	c.83C>T		.	.	.	.	.	.	.	.	.	.	g	11.55	1.673332	0.29693	.	.	ENSG00000184224	ENST00000333139;ENST00000446232	T;T	0.54675	0.56;0.56	2.06	1.14	0.20703	.	.	.	.	.	T	0.43322	0.1242	.	.	.	.	.	.	P	0.40619	0.724	B	0.41135	0.348	T	0.51164	-0.8740	7	0.87932	D	0	.	4.4735	0.11724	0.1945:0.0:0.8055:0.0	.	28	Q8NBR9	CK072_HUMAN	V	28	ENSP00000328640:A28V;ENSP00000416700:A28V	ENSP00000328640:A28V	A	-	2	0	C11orf72	67129034	0.267000	0.24122	0.236000	0.24074	0.082000	0.17680	0.830000	0.27462	0.457000	0.26962	0.506000	0.49869	GCC		0.577	C11orf72-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343852.2	NM_173578		5	10	0	0	0	1	0	5	10				
MEGF6	1953	broad.mit.edu	37	1	3428675	3428675	+	Missense_Mutation	SNP	C	C	T	rs115175505	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:3428675C>T	ENST00000356575.4	-	8	1097	c.871G>A	c.(871-873)Gca>Aca	p.A291T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	291	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCAGCCCTGCGGCACATTCG	0.652													C|||	9	0.00179712	0.0061	0.0	5008	,	,		19318	0.0		0.001	False		,,,				2504	0.0				Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(871-873)Gca>Aca		multiple EGF-like-domains 6		C	THR/ALA	5,4233		0,5,2114	55.0	64.0	61.0		871	-4.8	0.0	1	dbSNP_132	61	0,8448		0,0,4224	no	missense	MEGF6	NM_001409.3	58	0,5,6338	TT,TC,CC		0.0,0.118,0.0394	benign	291/1542	3428675	5,12681	2119	4224	6343	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3428675C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.871G>A	1.37:g.3428675C>T	ENSP00000348982:p.Ala291Thr					MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T	p.A291T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1097	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	291			EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.871G>A	CCDS41237.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	C	0.130	-1.114883	0.01799	0.00118	0.0	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.91686	-2.89;-2.89	4.46	-4.84	0.03151	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.791726	0.11364	N	0.571659	T	0.62073	0.2398	N	0.02142	-0.665	0.09310	N	1	B;B	0.15473	0.004;0.013	B;B	0.12837	0.008;0.004	T	0.65018	-0.6270	10	0.11794	T	0.64	0.0378	0.8346	0.01137	0.1818:0.187:0.3018:0.3293	.	291;186	O75095;O75095-2	MEGF6_HUMAN;.	T	186;291	ENSP00000294599:A186T;ENSP00000348982:A291T	ENSP00000294599:A186T	A	-	1	0	MEGF6	3418535	0.000000	0.05858	0.005000	0.12908	0.087000	0.18053	-2.172000	0.01266	-0.668000	0.05296	-0.339000	0.08088	GCA		0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	46	0	0	0	1	0	3	46				
LRP5	4041	broad.mit.edu	37	11	68204389	68204389	+	Missense_Mutation	SNP	A	A	G	rs572540297		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:68204389A>G	ENST00000294304.7	+	19	4139	c.4033A>G	c.(4033-4035)Agc>Ggc	p.S1345G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1345	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGTGTGCGAGCGGCCAGTG	0.642																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4033-4035)Agc>Ggc		low density lipoprotein receptor-related protein 5							158.0	120.0	133.0					11																	68204389		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68204389A>G	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4033A>G	11.37:g.68204389A>G	ENSP00000294304:p.Ser1345Gly						p.S1345G	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			19	4139	+			1345			LDL-receptor class A 3.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4033A>G	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530892	0.64972	.	.	ENSG00000162337	ENST00000294304	D	0.95885	-3.84	4.37	4.37	0.52481	.	0.100524	0.41294	U	0.000905	D	0.95608	0.8572	M	0.80508	2.5	0.41814	D	0.989987	B;B	0.33549	0.417;0.417	B;B	0.39935	0.314;0.314	D	0.96232	0.9169	10	0.66056	D	0.02	.	14.1236	0.65205	1.0:0.0:0.0:0.0	.	1345;1345	Q9UES7;O75197	.;LRP5_HUMAN	G	1345	ENSP00000294304:S1345G	ENSP00000294304:S1345G	S	+	1	0	LRP5	67960965	0.997000	0.39634	1.000000	0.80357	0.884000	0.51177	4.850000	0.62889	1.987000	0.57996	0.519000	0.50382	AGC		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		25	46	0	0	0	1	0	25	46				
ZNF614	80110	broad.mit.edu	37	19	52519679	52519679	+	Missense_Mutation	SNP	C	C	T	rs115005123		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:52519679C>T	ENST00000270649.6	-	5	1716	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGTGTGGGAGCGCTGATGTAC	0.443													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23198	0.0		0.0	False		,,,				2504	0.0					ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cGc>cAc		zinc finger protein 614							156.0	144.0	148.0					19																	52519679		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519679C>T	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1172G>A	19.37:g.52519679C>T	ENSP00000270649:p.Arg391His					ZNF614_ENST00000356322.6_Intron	p.R391H	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1716	-		all_neural(266;0.0505)	391					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1172G>A	CCDS12847.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.68	2.308434	0.40895	.	.	ENSG00000142556	ENST00000270649	T	0.25749	1.78	3.38	1.18	0.20946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48537	0.1505	M	0.88377	2.95	0.09310	N	1	D	0.76494	0.999	D	0.63703	0.917	T	0.31861	-0.9928	9	0.87932	D	0	.	5.2742	0.15641	0.0:0.6233:0.168:0.2086	.	391	Q8N883	ZN614_HUMAN	H	391	ENSP00000270649:R391H	ENSP00000270649:R391H	R	-	2	0	ZNF614	57211491	0.000000	0.05858	0.004000	0.12327	0.603000	0.37013	-1.621000	0.02044	0.147000	0.19030	0.563000	0.77884	CGC		0.443	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		43	100	0	0	0	1	0	43	100				
KRT84	3890	broad.mit.edu	37	12	52777396	52777396	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:52777396C>T	ENST00000257951.3	-	2	799	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCTCTAGGACATCCTGCAGG	0.582																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(733-735)Gtc>Atc		keratin 84							59.0	56.0	57.0					12																	52777396		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52777396C>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.733G>A	12.37:g.52777396C>T	ENSP00000257951:p.Val245Ile					RP3-416H24.4_ENST00000547174.1_RNA	p.V245I	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	2	799	-	all_hematologic(5;0.12)		245			Coil 1B.|Rod.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.733G>A	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188046	0.38609	.	.	ENSG00000161849	ENST00000257951	T	0.75367	-0.93	5.22	1.35	0.21983	Filament (1);	0.650789	0.13587	N	0.376936	T	0.67277	0.2876	M	0.66506	2.035	0.22096	N	0.999366	B	0.16166	0.016	B	0.14578	0.011	T	0.56860	-0.7909	10	0.41790	T	0.15	.	5.4609	0.16615	0.0:0.4037:0.1799:0.4164	.	245	Q9NSB2	KRT84_HUMAN	I	245	ENSP00000257951:V245I	ENSP00000257951:V245I	V	-	1	0	KRT84	51063663	0.013000	0.17824	0.681000	0.30009	0.961000	0.63080	0.097000	0.15168	0.152000	0.19188	0.585000	0.79938	GTC		0.582	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		23	34	0	0	0	1	0	23	34				
APOBEC3F	200316	broad.mit.edu	37	22	39445579	39445579	+	Missense_Mutation	SNP	G	G	A	rs374582155		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr22:39445579G>A	ENST00000308521.5	+	5	1073	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	239					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGCGTCTTCCGAAACCAGGTA	0.512																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(715-717)cGa>cAa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F		G	GLN/ARG	0,4406		0,0,2203	107.0	96.0	100.0		716	-3.5	0.0	22		100	1,8599		0,1,4299	no	missense	APOBEC3F	NM_145298.5	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	239/374	39445579	1,13005	2203	4300	6503	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39445579G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.716G>A	22.37:g.39445579G>A	ENSP00000309749:p.Arg239Gln					APOBEC3G_ENST00000452957.2_Intron	p.R239Q	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			5	1073	+	Melanoma(58;0.04)		243					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.716G>A	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	11.25	1.583147	0.28268	0.0	1.16E-4	ENSG00000128394	ENST00000308521	T	0.66995	-0.24	1.75	-3.5	0.04710	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.51500	0.1678	L	0.55743	1.74	0.09310	N	1	P	0.50272	0.933	B	0.41946	0.371	T	0.44065	-0.9352	9	0.27785	T	0.31	.	2.2709	0.04090	0.2545:0.0:0.2898:0.4557	.	239	Q8IUX4	ABC3F_HUMAN	Q	239	ENSP00000309749:R239Q	ENSP00000309749:R239Q	R	+	2	0	APOBEC3F	37775525	0.000000	0.05858	0.004000	0.12327	0.169000	0.22640	-1.609000	0.02066	-1.122000	0.02945	0.505000	0.49811	CGA		0.512	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		17	80	0	0	0	1	0	17	80				
ARHGAP12	94134	broad.mit.edu	37	10	32150341	32150341	+	Silent	SNP	T	T	C			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr10:32150341T>C	ENST00000344936.2	-	4	1164	c.930A>G	c.(928-930)caA>caG	p.Q310Q	ARHGAP12_ENST00000311380.4_Silent_p.Q310Q|ARHGAP12_ENST00000396144.4_Silent_p.Q310Q|ARHGAP12_ENST00000375250.5_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	310					morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCCCTGGATTTTGGAAATCTC	0.408																																						ENST00000375250.5																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31						c.(928-930)caA>caG		Rho GTPase activating protein 12							104.0	93.0	97.0					10																	32150341		2203	4300	6503	SO:0001819	synonymous_variant	94134				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr10:32150341T>C	AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.930A>G	10.37:g.32150341T>C						ARHGAP12_ENST00000396144.4_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q|ARHGAP12_ENST00000344936.2_Silent_p.Q310Q|ARHGAP12_ENST00000311380.4_Silent_p.Q310Q	p.Q310Q	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN			4	1171	-		Prostate(175;0.0199)	310					B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Silent	SNP	ENST00000344936.2	37	c.930A>G	CCDS7170.1																																																																																				0.408	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047465.1			14	53	0	0	0	1	0	14	53				
SLC4A2	6522	broad.mit.edu	37	7	150767818	150767818	+	Silent	SNP	C	C	T	rs200557582	byFrequency	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr7:150767818C>T	ENST00000485713.1	+	12	2609	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C	SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000461735.1_Silent_p.C509C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000310317.5_Silent_p.C441C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	523					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTAGGCTGCGTGGAGTTCC	0.667													C|||	5	0.000998403	0.0	0.0	5008	,	,		16933	0.0		0.0	False		,,,				2504	0.0051					ENST00000485713.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(1567-1569)tgC>tgT		solute carrier family 4 (anion exchanger), member 2							78.0	72.0	74.0					7																	150767818		2203	4300	6503	SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767818C>T		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.1569C>T	7.37:g.150767818C>T						SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000461735.1_Silent_p.C509C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000310317.5_Silent_p.C441C	p.C523C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	12	2609	+			523					B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	SNP	ENST00000485713.1	37	c.1569C>T	CCDS5917.1																																																																																				0.667	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		10	16	0	0	0	1	0	10	16				
PHB2	11331	broad.mit.edu	37	12	7077605	7077605	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:7077605T>C	ENST00000535923.1	-	4	727	c.446A>G	c.(445-447)aAt>aGt	p.N149S	PHB2_ENST00000440277.1_Missense_Mutation_p.N149S|EMG1_ENST00000261406.6_5'Flank|PHB2_ENST00000399433.2_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'Flank	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CTGTGAGGCATTGAACTTGGC	0.572																																						ENST00000535923.1																			0				ovary(2)|pancreas(1)	3						c.(445-447)aAt>aGt		prohibitin 2							81.0	84.0	83.0					12																	7077605		2134	4242	6376	SO:0001583	missense	11331				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity	g.chr12:7077605T>C	AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.446A>G	12.37:g.7077605T>C	ENSP00000441875:p.Asn149Ser					PHB2_ENST00000440277.1_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|PHB2_ENST00000399433.2_Missense_Mutation_p.N149S	p.N149S	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN			4	727	-			149						Missense_Mutation	SNP	ENST00000535923.1	37	c.446A>G	CCDS53741.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197009	0.79015	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000440277;ENST00000545167;ENST00000536316	D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	5.31	4.17	0.49024	.	0.000000	0.85682	U	0.000000	D	0.96728	0.8932	M	0.88105	2.93	0.50171	D	0.999854	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.991;0.999;0.982	D	0.96595	0.9440	10	0.87932	D	0	-11.7337	11.2263	0.48886	0.0:0.0721:0.0:0.9279	.	149;149;149	B4DW05;B4DP75;Q99623	.;.;PHB2_HUMAN	S	149;149;149;149;185;160	ENSP00000441875:N149S;ENSP00000440317:N149S;ENSP00000382362:N149S;ENSP00000412856:N149S;ENSP00000441662:N185S;ENSP00000439029:N160S	ENSP00000382362:N149S	N	-	2	0	PHB2	6947866	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	7.997000	0.88414	0.966000	0.38159	-0.250000	0.11733	AAT		0.572	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400040.3	NM_007273		4	13	0	0	0	1	0	4	13				
SIRT5	23408	broad.mit.edu	37	6	13612077	13612077	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:13612077G>T	ENST00000606117.1	+	10	1209	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287*|RP1-223E5.4_ENST00000566170.1_RNA|SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TGCCTGTCATGAAAATGAAAC	0.433																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(913-915)Gaa>Taa		sirtuin 5	Suramin(DB04786)						259.0	260.0	260.0					6																	13612077		2203	4300	6503	SO:0001587	stop_gained	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13612077G>T	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.913G>T	6.37:g.13612077G>T	ENSP00000476228:p.Glu305*					SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*|SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287*	p.E305*	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		10	1209	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	305		E -> G (in dbSNP:rs34162626).	Deacetylase sirtuin-type.			Nonsense_Mutation	SNP	ENST00000606117.1	37	c.913G>T	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	36	5.761780	0.96906	.	.	ENSG00000124523	ENST00000359782;ENST00000397350;ENST00000379250	.	.	.	5.5	5.5	0.81552	.	0.141022	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-25.2735	18.5243	0.90965	0.0:0.0:1.0:0.0	.	.	.	.	X	287;197;305	.	ENSP00000352830:E287X	E	+	1	0	SIRT5	13720056	1.000000	0.71417	0.961000	0.40146	0.660000	0.38997	3.290000	0.51755	2.729000	0.93468	0.650000	0.86243	GAA		0.433	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			18	227	1	0	4.35082e-09	1	4.65436e-09	18	227				
RORB	6096	broad.mit.edu	37	9	77280504	77280504	+	Silent	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:77280504A>G	ENST00000396204.2	+	7	1026	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	RORB_ENST00000376896.3_Silent_p.K331K			Q92753	RORB_HUMAN	RAR-related orphan receptor B	342	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	AAATGTTCAAAGCCTTAGGTA	0.378																																						ENST00000376896.2																			0				breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(991-993)aaA>aaG		RAR-related orphan receptor B							130.0	110.0	117.0					9																	77280504		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77280504A>G	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1026A>G	9.37:g.77280504A>G						RORB_ENST00000396204.2_Silent_p.K342K	p.K331K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN			7	1605	+			342			Ligand-binding (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.993A>G																																																																																					0.378	RORB-201	KNOWN	basic	protein_coding	protein_coding				3	31	0	0	0	1	0	3	31				
TAOK2	9344	broad.mit.edu	37	16	29999002	29999002	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:29999002C>T	ENST00000308893.4	+	16	4452	c.3409C>T	c.(3409-3411)Ccc>Tcc	p.P1137S	TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCGGCGTAATCCCCGCACCAC	0.652																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(3409-3411)Ccc>Tcc		TAO kinase 2							61.0	64.0	63.0					16																	29999002		2197	4300	6497	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29999002C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3409C>T	16.37:g.29999002C>T	ENSP00000310094:p.Pro1137Ser					TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S|TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S	p.P1137S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			16	4452	+			1137					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.3409C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	C	2.971	-0.212424	0.06140	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.72725	-0.61;-0.68	5.28	0.454	0.16644	.	1.294460	0.05094	N	0.485782	T	0.49660	0.1570	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.25641	-1.0126	9	.	.	.	.	3.8005	0.08757	0.1505:0.4634:0.2926:0.0935	.	1328;964;1137	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	S	1137;1024	ENSP00000310094:P1137S;ENSP00000440336:P1024S	.	P	+	1	0	TAOK2	29906503	0.008000	0.16893	0.130000	0.21974	0.142000	0.21351	-0.041000	0.12084	0.153000	0.19213	-1.121000	0.02013	CCC		0.652	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		22	138	0	0	0	1	0	22	138				
NEMF	9147	broad.mit.edu	37	14	50262540	50262540	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr14:50262540G>A	ENST00000298310.5	-	26	3037	c.2588C>T	c.(2587-2589)gCg>gTg	p.A863V	NEMF_ENST00000546046.1_Missense_Mutation_p.A842V|NEMF_ENST00000545773.1_Missense_Mutation_p.A821V|NEMF_ENST00000382135.2_Missense_Mutation_p.A63V|NEMF_ENST00000556925.1_5'UTR			O60524	NEMF_HUMAN	nuclear export mediator factor	863					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTGCACAGCCGCAACATTTTT	0.368																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2587-2589)gCg>gTg		nuclear export mediator factor							167.0	153.0	158.0					14																	50262540		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50262540G>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2588C>T	14.37:g.50262540G>A	ENSP00000298310:p.Ala863Val					NEMF_ENST00000546046.1_Missense_Mutation_p.A842V|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Missense_Mutation_p.A63V|NEMF_ENST00000545773.1_Missense_Mutation_p.A821V	p.A863V			O60524	NEMF_HUMAN			26	3037	-			863					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2588C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	7.552	0.662968	0.14710	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.45668	0.89;0.9;0.9;0.9	5.69	4.79	0.61399	.	0.474468	0.24105	N	0.041509	T	0.35158	0.0922	L	0.52573	1.65	0.09310	N	1	B;B;B;B;B	0.31680	0.044;0.018;0.023;0.056;0.335	B;B;B;B;B	0.25614	0.021;0.014;0.01;0.009;0.062	T	0.20042	-1.0287	10	0.28530	T	0.3	0.1749	13.8493	0.63487	0.0762:0.0:0.9238:0.0	.	842;838;821;863;63	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	V	863;821;63;842;635;821	ENSP00000298310:A863V;ENSP00000438309:A821V;ENSP00000441016:A842V;ENSP00000452540:A821V	ENSP00000298310:A863V	A	-	2	0	NEMF	49332290	0.012000	0.17670	0.040000	0.18447	0.021000	0.10359	1.793000	0.38764	2.691000	0.91804	0.655000	0.94253	GCG		0.368	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		3	57	0	0	0	1	0	3	57				
UGT1A10	54575	broad.mit.edu	37	2	234545184	234545184	+	Missense_Mutation	SNP	T	T	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:234545184T>G	ENST00000344644.5	+	1	85	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	6				MARAGWTSPVPLCVCLLLTCGFA -> MAPRRVDQPRSFMC VSTADLWLC (in Ref. 1). {ECO:0000305}.	cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TCGCGCAGGGTGGACCAGCCC	0.567																																						ENST00000344644.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32						c.(16-18)Tgg>Ggg									77.0	76.0	77.0					2																	234545184		2203	4300	6503	SO:0001583	missense	0							g.chr2:234545184T>G	U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"""UDP glucuronosyltransferases"""	12531	other	complex locus constituent		606435	"""UDP glycosyltransferase 1 family, polypeptide A10"""			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.16T>G	2.37:g.234545184T>G	ENSP00000343838:p.Trp6Gly					UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G|UGT1A8_ENST00000373450.4_Intron	p.W6G	NM_019075.2	NP_061948.1				Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	85	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	ENST00000344644.5	37	c.16T>G	CCDS33403.1	.	.	.	.	.	.	.	.	.	.	T	7.428	0.638121	0.14386	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.59364	0.27;0.33	3.61	-2.18	0.07037	.	.	.	.	.	T	0.44891	0.1315	L	0.56769	1.78	0.09310	N	1	B;B	0.21309	0.054;0.031	B;B	0.18263	0.021;0.021	T	0.48445	-0.9035	9	0.87932	D	0	.	0.6662	0.00851	0.1802:0.2908:0.1564:0.3726	.	6;6	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	G	6	ENSP00000343838:W6G;ENSP00000362544:W6G	ENSP00000343838:W6G	W	+	1	0	UGT1A10	234209923	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.660000	0.05317	-0.210000	0.10140	-0.420000	0.06012	TGG		0.567	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130986.1	NM_019075		8	55	0	0	0	1	0	8	55				
SETD4	54093	broad.mit.edu	37	21	37412909	37412909	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr21:37412909G>T	ENST00000399215.1	-	8	2400	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|SETD4_ENST00000332131.4_Missense_Mutation_p.T343K|SETD4_ENST00000481477.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	343				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CTTAAGGGCTGTGAGTAGCCT	0.388																																						ENST00000399215.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						c.(1027-1029)aCa>aAa		SET domain containing 4							209.0	211.0	210.0					21																	37412909		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37412909G>T	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1028C>A	21.37:g.37412909G>T	ENSP00000382163:p.Thr343Lys					SETD4_ENST00000332131.4_Missense_Mutation_p.T343K|SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR	p.T343K			Q9NVD3	SETD4_HUMAN			8	2400	-			343	EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).				B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.1028C>A	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095551	0.94197	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.18338	2.22;2.22;2.22	5.66	5.66	0.87406	Rubisco LS methyltransferase, substrate-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.44932	0.1317	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.14559	-1.0468	10	0.24483	T	0.36	-4.9159	19.7398	0.96223	0.0:0.0:1.0:0.0	.	319;343	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	K	343;319;343	ENSP00000382163:T343K;ENSP00000382161:T319K;ENSP00000329189:T343K	ENSP00000329189:T343K	T	-	2	0	SETD4	36334779	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	5.949000	0.70257	2.665000	0.90641	0.561000	0.74099	ACA		0.388	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		11	168	1	0	5.50884e-06	1	5.63126e-06	11	168				
POLR2A	5430	broad.mit.edu	37	17	7404927	7404927	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr17:7404927G>A	ENST00000322644.6	+	14	2627	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	743					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAGGTGAACCGCATTCTTAAC	0.522																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2227-2229)cGc>cAc		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							86.0	81.0	83.0					17																	7404927		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7404927G>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2228G>A	17.37:g.7404927G>A	ENSP00000314949:p.Arg743His						p.R743H	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN			14	2627	+		Prostate(122;0.173)	743					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2228G>A	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276591	0.95459	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.68181	-0.31	6.17	6.17	0.99709	RNA polymerase Rpb1, domain 4 (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.79011	2.435	0.80722	D	1	D	0.54047	0.964	P	0.45681	0.49	T	0.78026	-0.2365	10	0.87932	D	0	-10.8426	19.6509	0.95805	0.0:0.0:1.0:0.0	.	743	P24928	RPB1_HUMAN	H	699;743	ENSP00000314949:R743H	ENSP00000314949:R743H	R	+	2	0	SLC35G6	7345651	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.639000	0.98448	2.941000	0.99782	0.655000	0.94253	CGC		0.522	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		3	70	0	0	0	1	0	3	70				
MLKL	197259	broad.mit.edu	37	16	74709277	74709277	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74709277C>T	ENST00000308807.7	-	9	1679	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MLKL_ENST00000306247.7_Silent_p.S187S	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCCAGTGGCGATTTCCCAG	0.493																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(1216-1218)Gcc>Acc		mixed lineage kinase domain-like							109.0	104.0	106.0					16																	74709277		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74709277C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1216G>A	16.37:g.74709277C>T	ENSP00000308351:p.Ala406Thr					MLKL_ENST00000306247.7_Silent_p.S187S	p.A406T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			9	1679	-			406			Protein kinase.			Missense_Mutation	SNP	ENST00000308807.7	37	c.1216G>A	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467898	0.26335	.	.	ENSG00000168404	ENST00000308807	D	0.82803	-1.65	4.96	-0.926	0.10455	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.519194	0.20943	N	0.082892	T	0.81997	0.4941	.	.	.	0.09310	N	1	D	0.61697	0.99	P	0.52481	0.7	T	0.74592	-0.3614	9	0.52906	T	0.07	-0.5496	8.8987	0.35481	0.0:0.585:0.0:0.415	.	406	Q8NB16	MLKL_HUMAN	T	406	ENSP00000308351:A406T	ENSP00000308351:A406T	A	-	1	0	MLKL	73266778	0.036000	0.19791	0.014000	0.15608	0.246000	0.25737	0.124000	0.15728	-0.150000	0.11195	0.498000	0.49722	GCC		0.493	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		4	79	0	0	0	1	0	4	79				
OR52A5	390054	broad.mit.edu	37	11	5153260	5153260	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:5153260C>T	ENST00000307388.1	-	1	612	c.613G>A	c.(613-615)Gtt>Att	p.V205I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	205					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAAAGGCAACAAATAGGCCA	0.423																																						ENST00000307388.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35						c.(613-615)Gtt>Att		olfactory receptor, family 52, subfamily A, member 5							108.0	103.0	105.0					11																	5153260		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153260C>T	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.613G>A	11.37:g.5153260C>T	ENSP00000303469:p.Val205Ile						p.V205I	NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	612	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	205						Missense_Mutation	SNP	ENST00000307388.1	37	c.613G>A	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	C	7.616	0.675801	0.14841	.	.	ENSG00000171944	ENST00000307388	T	0.00169	8.63	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.326881	0.22064	N	0.065134	T	0.00271	0.0008	M	0.62266	1.93	0.24800	N	0.992709	B	0.23540	0.087	B	0.33799	0.17	T	0.23261	-1.0193	10	0.48119	T	0.1	.	12.5409	0.56169	0.0:0.9189:0.0:0.0811	.	205	Q9H2C5	O52A5_HUMAN	I	205	ENSP00000303469:V205I	ENSP00000303469:V205I	V	-	1	0	OR52A5	5109836	0.000000	0.05858	1.000000	0.80357	0.032000	0.12392	-0.505000	0.06367	1.368000	0.46115	0.563000	0.77884	GTT		0.423	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		38	64	0	0	0	1	0	38	64				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	71	0	0	0	1	0	4	71				
PCDH10	57575	broad.mit.edu	37	4	134072866	134072866	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr4:134072866A>G	ENST00000264360.5	+	1	2397	c.1571A>G	c.(1570-1572)tAc>tGc	p.Y524C	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	524	Cadherin 5. {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)	p.Y524C(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGAACGGCTACTTGTACGCC	0.587																																						ENST00000264360.4																			1	Substitution - Missense(1)	p.Y524C(1)	lung(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1570-1572)tAc>tGc		protocadherin 10							68.0	72.0	70.0					4																	134072866		2201	4294	6495	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072866A>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1571A>G	4.37:g.134072866A>G	ENSP00000264360:p.Tyr524Cys						p.Y524C	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2397	+			524			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1571A>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276061	0.23307	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51574	0.7	4.51	4.51	0.55191	Cadherin (5);Cadherin-like (1);	0.000000	0.39146	N	0.001441	T	0.58708	0.2141	L	0.58101	1.795	0.54753	D	0.999986	D;P	0.65815	0.995;0.711	D;B	0.65773	0.938;0.276	T	0.57676	-0.7770	10	0.39692	T	0.17	.	8.9117	0.35557	0.8332:0.0:0.0:0.1668	.	524;524	Q9P2E7;Q96SF0	PCD10_HUMAN;.	C	524	ENSP00000264360:Y524C	ENSP00000264360:Y524C	Y	+	2	0	PCDH10	134292316	0.977000	0.34250	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.889000	0.54706	0.533000	0.62120	TAC		0.587	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	80	0	0	0	1	0	6	80				
AGAP1	116987	broad.mit.edu	37	2	236659029	236659029	+	Silent	SNP	C	C	T	rs576969179		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:236659029C>T	ENST00000304032.8	+	6	1150	c.570C>T	c.(568-570)atC>atT	p.I190I	AGAP1_ENST00000409457.1_Silent_p.I190I|AGAP1_ENST00000409538.1_Silent_p.I455I|AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000336665.5_Silent_p.I190I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	190	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGAGGGTCATCGATGACGCCA	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20471	0.0		0.0	False		,,,				2504	0.0					ENST00000409538.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1363-1365)atC>atT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							261.0	212.0	229.0					2																	236659029		2203	4300	6503	SO:0001819	synonymous_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659029C>T	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.570C>T	2.37:g.236659029C>T						AGAP1_ENST00000304032.7_Silent_p.I190I|AGAP1_ENST00000336665.5_Silent_p.I190I|AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000409457.1_Silent_p.I190I	p.I455I			Q9UPQ3	AGAP1_HUMAN			6	1861	+			190			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	ENST00000304032.8	37	c.1365C>T	CCDS33408.1																																																																																				0.522	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		16	103	0	0	0	1	0	16	103				
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:745371delA	ENST00000435300.1	-	0	804				RP11-206L10.8_ENST00000447500.1_RNA																							TTTATTTCATAAGATAGCATT	0.299																																						ENST00000447500.1																			0																																																			0							g.chr1:745371delA																													1.37:g.745371delA														0	95	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			4	2						4	2	---	---	---	---
CNKSR1	10256	broad.mit.edu	37	1	26511516	26511517	+	Frame_Shift_Ins	INS	-	-	T	rs376124859		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:26511516_26511517insT	ENST00000374253.5	+	14	1207_1208	c.1168_1169insT	c.(1168-1170)cggfs	p.R390fs	CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.R383fs|CNKSR1_ENST00000531191.1_Frame_Shift_Ins_p.R125fs	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	390					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGCGACCCGGCTGAGCCGC	0.693																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000531191.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(373-375)gctfs		connector enhancer of kinase suppressor of Ras 1																																				SO:0001589	frameshift_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26511516_26511517insT	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	Exception_encountered	1.37:g.26511516_26511517insT	ENSP00000363371:p.Arg390fs					CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.A383fs|CNKSR1_ENST00000374253.5_Frame_Shift_Ins_p.A390fs	p.A125fs			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	13	1380_1381	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	390			CRIC.		B1AMW9|O95381	Frame_Shift_Ins	INS	ENST00000374253.5	37	c.373_374insT																																																																																					0.693	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		2	4						2	4	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			0							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			2	4						2	4	---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74487225	74487225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74487225delG	ENST00000422840.2	-	26	3379	c.3380delC	c.(3379-3381)ccafs	p.P1127fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1127					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCCATCTGCTGGGGCCACCTA	0.468																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(3379-3381)cafs		golgi glycoprotein 1							83.0	71.0	75.0					16																	74487225		2198	4300	6498	SO:0001589	frameshift_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74487225delG		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.3380delC	16.37:g.74487225delG	ENSP00000405984:p.Pro1127fs					GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs|GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs	p.P1127fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			26	3379	-			1127					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	c.3380delC	CCDS45527.1																																																																																				0.468	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		12	23						12	23	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17941029	17941029	+	Splice_Site	DEL	T	T	-			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:17941029delT	ENST00000527670.1	-	22	3126		c.e22-2		JAK3_ENST00000458235.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site			P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGGAACTCCTGGAGCCAAGG	0.701		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.e23-2		Janus kinase 3							7.0	7.0	7.0					19																	17941029		2157	4249	6406	SO:0001630	splice_region_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17941029delT	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.3097-2A>-	19.37:g.17941029delT						JAK3_ENST00000527670.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site		NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			23	3196	-								Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Splice_Site	DEL	ENST00000527670.1	37		CCDS12366.1																																																																																				0.701	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	Intron	2	4						2	4	---	---	---	---
