#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
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		8	14	0	0	0	1	0	8	14				
RNMT	8731	broad.mit.edu	37	18	13742584	13742584	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr18:13742584T>C	ENST00000383314.2	+	8	1312	c.1072T>C	c.(1072-1074)Tat>Cat	p.Y358H	RNMT_ENST00000535051.1_Missense_Mutation_p.Y116H|RNMT_ENST00000262173.3_Missense_Mutation_p.Y358H|RNMT_ENST00000592764.1_Missense_Mutation_p.Y358H|RNMT_ENST00000589866.1_Missense_Mutation_p.Y358H|RNMT_ENST00000543302.2_Missense_Mutation_p.Y358H			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	358	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGGCTGCAAATATGACTTCAA	0.338																																					GBM(29;474 594 19092 36647 41529)	ENST00000383314.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						c.(1072-1074)Tat>Cat		RNA (guanine-7-) methyltransferase							175.0	170.0	172.0					18																	13742584		2203	4299	6502	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13742584T>C	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1072T>C	18.37:g.13742584T>C	ENSP00000372804:p.Tyr358His					RNMT_ENST00000262173.3_Missense_Mutation_p.Y358H|RNMT_ENST00000535051.1_Missense_Mutation_p.Y116H|RNMT_ENST00000592764.1_Missense_Mutation_p.Y358H|RNMT_ENST00000543302.2_Missense_Mutation_p.Y358H|RNMT_ENST00000589866.1_Missense_Mutation_p.Y358H	p.Y358H			O43148	MCES_HUMAN			8	1312	+			358					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.1072T>C	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523293	0.85600	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000262173	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.93678	3.445	0.80722	D	1	P;P	0.48230	0.886;0.907	P;P	0.48654	0.449;0.585	D	0.84770	0.0767	9	0.87932	D	0	-30.7553	15.9479	0.79806	0.0:0.0:0.0:1.0	.	358;358	O43148-2;O43148	.;MCES_HUMAN	H	358;116;358;358	.	ENSP00000262173:Y358H	Y	+	1	0	RNMT	13732584	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.330000	0.79181	2.225000	0.72522	0.482000	0.46254	TAT		0.338	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		7	83	0	0	0	1	0	7	83				
NSUN6	221078	broad.mit.edu	37	10	18903472	18903472	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr10:18903472T>G	ENST00000377304.4	-	5	910	c.492A>C	c.(490-492)gaA>gaC	p.E164D		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	164	PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.						methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						TTCCATCAAATTCTTTGGCTC	0.348																																						ENST00000377304.4																			0				endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(490-492)gaA>gaC		NOP2/Sun domain family, member 6							79.0	75.0	77.0					10																	18903472		2203	4300	6503	SO:0001583	missense	221078						methyltransferase activity|RNA binding	g.chr10:18903472T>G	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.492A>C	10.37:g.18903472T>G	ENSP00000366519:p.Glu164Asp						p.E164D	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN			5	910	-			164			PUA.		B0YJ54	Missense_Mutation	SNP	ENST00000377304.4	37	c.492A>C	CCDS7130.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.131647	0.37630	.	.	ENSG00000241058	ENST00000377304	T	0.32515	1.45	5.09	1.29	0.21616	Pseudouridine synthase/archaeosine transglycosylase (1);PUA-like domain (1);	0.224065	0.50627	D	0.000118	T	0.26629	0.0651	L	0.58669	1.825	0.38329	D	0.943757	B	0.21753	0.06	B	0.20577	0.03	T	0.11251	-1.0595	10	0.27785	T	0.31	.	9.9315	0.41525	0.0:0.211:0.0:0.789	.	164	Q8TEA1	NSUN6_HUMAN	D	164	ENSP00000366519:E164D	ENSP00000366519:E164D	E	-	3	2	NSUN6	18943478	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	0.720000	0.25896	0.313000	0.23062	-0.274000	0.10170	GAA		0.348	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047083.1	NM_182543		7	52	0	0	0	1	0	7	52				
HOXA5	3202	broad.mit.edu	37	7	27182685	27182685	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr7:27182685C>T	ENST00000222726.3	-	1	602	c.542G>A	c.(541-543)cGc>cAc	p.R181H	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000521401.1_5'Flank|HOXA5_ENST00000520854.1_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA6_ENST00000521478.1_5'Flank	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	181					anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GTGCAGCTTGCGCATCCAGGG	0.677																																					Colon(119;75 2200 7557 42868)	ENST00000222726.3																			0				central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						c.(541-543)cGc>cAc		homeobox A5							92.0	114.0	107.0					7																	27182685		2203	4300	6503	SO:0001583	missense	3202				negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27182685C>T		CCDS5406.1	7p15.2	2011-06-20	2005-12-22		ENSG00000106004	ENSG00000106004		"""Homeoboxes / ANTP class : HOXL subclass"""	5106	protein-coding gene	gene with protein product		142952	"""homeo box A5"""	HOX1C, HOX1		1973146, 1358459	Standard	NM_019102		Approved		uc003syn.2	P20719	OTTHUMG00000023214	ENST00000222726.3:c.542G>A	7.37:g.27182685C>T	ENSP00000222726:p.Arg181His					HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA	p.R181H	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN			1	602	-			181					A4D179|O43367|Q96CY6	Missense_Mutation	SNP	ENST00000222726.3	37	c.542G>A	CCDS5406.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948206	0.73787	.	.	ENSG00000106004	ENST00000222726	D	0.95656	-3.77	5.53	5.53	0.82687	Homeodomain-like (1);Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97898	0.9309	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.98528	1.0626	10	0.87932	D	0	.	19.0547	0.93058	0.0:1.0:0.0:0.0	.	181	P20719	HXA5_HUMAN	H	181	ENSP00000222726:R181H	ENSP00000222726:R181H	R	-	2	0	HOXA5	27149210	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.448000	0.80631	2.606000	0.88127	0.591000	0.81541	CGC		0.677	HOXA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358705.1			4	219	0	0	0	1	0	4	219				
A2M	2	broad.mit.edu	37	12	9248204	9248204	+	Silent	SNP	G	G	T			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr12:9248204G>T	ENST00000318602.7	-	16	2251	c.1944C>A	c.(1942-1944)gtC>gtA	p.V648V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	648					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CATTAATATAGACATTATGAC	0.408																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(1942-1944)gtC>gtA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						130.0	126.0	127.0					12																	9248204		1876	4109	5985	SO:0001819	synonymous_variant	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9248204G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1944C>A	12.37:g.9248204G>T							p.V648V	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN			16	2251	-			648					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	ENST00000318602.7	37	c.1944C>A	CCDS44827.1																																																																																				0.408	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		3	52	1	0	1	1	1	3	52				
APBB1	322	broad.mit.edu	37	11	6432092	6432092	+	Missense_Mutation	SNP	C	C	A	rs145320037		TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr11:6432092C>A	ENST00000609360.1	-	2	585	c.486G>T	c.(484-486)gaG>gaT	p.E162D	APBB1_ENST00000389906.2_Missense_Mutation_p.E162D|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	162	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcctcctcctcct	0.637																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.E162D(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(484-486)gaG>gaT		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)							35.0	35.0	35.0					11																	6432092		2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432092C>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.486G>T	11.37:g.6432092C>A	ENSP00000477213:p.Glu162Asp					APBB1_ENST00000533407.1_Intron|APBB1_ENST00000299402.6_Missense_Mutation_p.E162D|APBB1_ENST00000311051.3_Missense_Mutation_p.E162D	p.E162D	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	585	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	162			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.486G>T		.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899741	0.02472	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14893	2.47;2.47;2.47	4.85	-4.93	0.03066	.	0.650451	0.13993	N	0.348689	T	0.05318	0.0141	N	0.08118	0	0.27333	N	0.956714	B	0.10296	0.003	B	0.10450	0.005	T	0.38134	-0.9675	10	0.12766	T	0.61	-7.4359	4.4462	0.11598	0.2593:0.2348:0.0:0.5059	.	162	O00213-2	.	D	162	ENSP00000299402:E162D;ENSP00000311912:E162D;ENSP00000374556:E162D	ENSP00000299402:E162D	E	-	3	2	APBB1	6388668	0.040000	0.19996	0.894000	0.35097	0.055000	0.15305	-0.394000	0.07296	-1.017000	0.03367	-0.556000	0.04195	GAG		0.637	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		3	25	1	0	6.4e-05	1	7.15294e-05	3	25				
HIST2H2BA	337875	broad.mit.edu	37	1	120906203	120906203	+	lincRNA	SNP	G	G	A			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr1:120906203G>A	ENST00000427872.1	-	0	0				RP11-439A17.10_ENST00000426275.1_RNA|HIST2H2BA_ENST00000430394.1_RNA																							CCCGACACCGGCATCTCGTCC	0.612																																						ENST00000430394.1																			0																																																			0							g.chr1:120906203G>A																													1.37:g.120906203G>A								NR_027337.1						0	176	+									RNA	SNP	ENST00000427872.1	37																																																																																						0.612	RP11-439A17.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098238.1			4	157	0	0	0	1	0	4	157				
CYP2C8	1558	broad.mit.edu	37	10	96802770	96802770	+	Missense_Mutation	SNP	C	C	A	rs267602642		TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr10:96802770C>A	ENST00000371270.3	-	7	1120	c.1026G>T	c.(1024-1026)agG>agT	p.R342S	CYP2C8_ENST00000535898.1_Missense_Mutation_p.R240S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.R256S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	342					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GCATGTGGCTCCTATCCTGCA	0.498																																						ENST00000371270.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1024-1026)agG>agT		cytochrome P450, family 2, subfamily C, polypeptide 8	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						242.0	187.0	206.0					10																	96802770		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96802770C>A	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1026G>T	10.37:g.96802770C>A	ENSP00000360317:p.Arg342Ser					CYP2C8_ENST00000535898.1_Missense_Mutation_p.R240S|CYP2C8_ENST00000539050.1_Missense_Mutation_p.R256S	p.R342S	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	7	1120	-		Colorectal(252;0.0397)	342					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1026G>T	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713856	0.68730	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.69561	-0.41;-0.41;-0.41	4.49	2.46	0.29980	.	0.061993	0.64402	U	0.000006	D	0.82449	0.5039	M	0.93016	3.37	0.30660	N	0.754475	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.77557	0.958;0.978;0.99;0.985	T	0.80120	-0.1515	10	0.87932	D	0	.	7.7701	0.29004	0.0:0.7715:0.0:0.2285	.	256;240;310;342	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	S	342;309;240;256	ENSP00000360317:R342S;ENSP00000445062:R240S;ENSP00000442343:R256S	ENSP00000360317:R342S	R	-	3	2	CYP2C8	96792760	0.027000	0.19231	0.981000	0.43875	0.961000	0.63080	0.114000	0.15520	1.108000	0.41662	0.585000	0.79938	AGG		0.498	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		4	76	1	0	0.00024832	1	0.000262116	4	76				
PLXND1	23129	broad.mit.edu	37	3	129284742	129284742	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr3:129284742G>A	ENST00000324093.4	-	24	4488	c.4310C>T	c.(4309-4311)gCg>gTg	p.A1437V	PLXND1_ENST00000393239.1_Missense_Mutation_p.A1437V	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1437					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1437V(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCGCGCACCGCAAAGTCCTT	0.582																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	1	Substitution - Missense(1)	p.A1437V(1)	kidney(1)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(4309-4311)gCg>gTg		plexin D1							100.0	83.0	89.0					3																	129284742		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129284742G>A	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4310C>T	3.37:g.129284742G>A	ENSP00000317128:p.Ala1437Val					PLXND1_ENST00000324093.4_Missense_Mutation_p.A1437V	p.A1437V			Q9Y4D7	PLXD1_HUMAN			24	4488	-			1437					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4310C>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586647	0.86851	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12879	2.64;2.64	4.86	3.99	0.46301	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.179883	0.48286	D	0.000183	T	0.27524	0.0676	L	0.40543	1.245	0.58432	D	0.999996	D;B	0.76494	0.999;0.343	D;B	0.74348	0.983;0.145	T	0.01549	-1.1327	10	0.87932	D	0	.	13.3894	0.60813	0.0767:0.0:0.9233:0.0	.	32;1437	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	V	1437	ENSP00000317128:A1437V;ENSP00000376931:A1437V	ENSP00000317128:A1437V	A	-	2	0	PLXND1	130767432	1.000000	0.71417	0.357000	0.25798	0.948000	0.59901	6.352000	0.73027	1.037000	0.40024	0.563000	0.77884	GCG		0.582	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		3	22	0	0	0	1	0	3	22				
LRRC4B	94030	broad.mit.edu	37	19	51051832	51051832	+	Silent	SNP	C	C	T	rs531091448		TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr19:51051832C>T	ENST00000599957.1	-	2	461	c.264G>A	c.(262-264)acG>acA	p.T88T	LRRC4B_ENST00000389201.3_Silent_p.T88T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	88					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TCAGGTACCGCGTGTTGACCG	0.672													-|||	1	0.000199681	0.0008	0.0	5008	,	,		14006	0.0		0.0	False		,,,				2504	0.0					ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(262-264)acG>acA		leucine rich repeat containing 4B							19.0	20.0	20.0					19																	51051832		2094	4188	6282	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51051832C>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.264G>A	19.37:g.51051832C>T						LRRC4B_ENST00000389201.3_Silent_p.T88T	p.T88T			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	2	461	-		all_neural(266;0.131)	88					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.264G>A	CCDS42595.1																																																																																				0.672	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		4	9	0	0	0	1	0	4	9				
DUOX2	50506	broad.mit.edu	37	15	45387752	45387752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr15:45387752C>T	ENST00000603300.1	-	31	4324	c.4122G>A	c.(4120-4122)tgG>tgA	p.W1374*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.W1374*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1374					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAAATTTATGCCACTCCTGAT	0.567																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(4120-4122)tgG>tgA		dual oxidase 2							112.0	102.0	105.0					15																	45387752		2198	4298	6496	SO:0001587	stop_gained	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45387752C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.4122G>A	15.37:g.45387752C>T	ENSP00000475084:p.Trp1374*					DUOX2_ENST00000603300.1_Nonsense_Mutation_p.W1374*	p.W1374*			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	31	4507	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1374					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	ENST00000603300.1	37	c.4122G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	46	12.925044	0.99706	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.6839	19.116	0.93340	0.0:1.0:0.0:0.0	.	.	.	.	X	1374	.	ENSP00000373691:W1374X	W	-	3	0	DUOX2	43175044	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.811000	0.86092	2.768000	0.95171	0.561000	0.74099	TGG		0.567	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		3	47	0	0	0	1	0	3	47				
SRCAP	10847	broad.mit.edu	37	16	30724602	30724602	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr16:30724602T>C	ENST00000262518.4	+	15	2589	c.2204T>C	c.(2203-2205)tTc>tCc	p.F735S	SRCAP_ENST00000344771.4_Missense_Mutation_p.F735S|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.F735S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	735	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CACCAGGCCTTCCGTCGCAAG	0.522																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(2203-2205)tTc>tCc		Snf2-related CREBBP activator protein							132.0	117.0	122.0					16																	30724602		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30724602T>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2204T>C	16.37:g.30724602T>C	ENSP00000262518:p.Phe735Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.F735S|SRCAP_ENST00000344771.4_Missense_Mutation_p.F735S	p.F735S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		15	2589	+			735			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.2204T>C	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	T	17.04	3.286040	0.59867	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93307	-3.2;-3.2;-3.2	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000013	D	0.96914	0.8992	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.97574	1.0106	10	0.87932	D	0	-12.0795	14.566	0.68176	0.0:0.0:0.0:1.0	.	735;735;735	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	735	ENSP00000262518:F735S;ENSP00000378499:F735S;ENSP00000343042:F735S	ENSP00000262518:F735S	F	+	2	0	SRCAP	30632103	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.847000	0.86896	2.272000	0.75746	0.460000	0.39030	TTC		0.522	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		9	65	0	0	0	1	0	9	65				
ZNF155	7711	broad.mit.edu	37	19	44500900	44500900	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr19:44500900C>G	ENST00000270014.2	+	5	1019	c.891C>G	c.(889-891)ttC>ttG	p.F297L	RP11-15A1.7_ENST00000586860.1_RNA|RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000590615.1_Missense_Mutation_p.F297L|ZNF155_ENST00000407951.2_Missense_Mutation_p.F308L	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	297					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GTAAGACCTTCTATTTTAGGT	0.403																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(889-891)ttC>ttG		zinc finger protein 155							94.0	97.0	96.0					19																	44500900		2203	4300	6503	SO:0001583	missense	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500900C>G	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.891C>G	19.37:g.44500900C>G	ENSP00000270014:p.Phe297Leu					ZNF155_ENST00000407951.2_Missense_Mutation_p.F308L|ZNF155_ENST00000590615.1_Missense_Mutation_p.F297L	p.F297L	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1019	+		Prostate(69;0.0352)	297					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	c.891C>G	CCDS12634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.25|15.25	2.778859|2.778859	0.49891|0.49891	.|.	.|.	ENSG00000204920|ENSG00000204920	ENST00000407951;ENST00000270014|ENST00000425747	T;T|.	0.46063|.	0.88;0.88|.	2.59|2.59	0.261|0.261	0.15592|0.15592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.54647|0.54647	0.1871|0.1871	M|M	0.80332|0.80332	2.49|2.49	0.18873|0.18873	N|N	0.999988|0.999988	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	T|T	0.51180|0.51180	-0.8738|-0.8738	9|6	0.87932|0.66056	D|D	0|0.02	.|.	5.9279|5.9279	0.19122|0.19122	0.0:0.6077:0.0:0.3923|0.0:0.6077:0.0:0.3923	.|.	308;297|.	B4DM95;Q12901|.	.;ZN155_HUMAN|.	L|C	308;297|171	ENSP00000385163:F308L;ENSP00000270014:F297L|.	ENSP00000270014:F297L|ENSP00000401576:S171C	F|S	+|+	3|2	2|0	ZNF155|ZNF155	49192740|49192740	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.171000|0.171000	0.22731|0.22731	-0.596000|-0.596000	0.05720|0.05720	0.006000|0.006000	0.14734|0.14734	0.462000|0.462000	0.41574|0.41574	TTC|TCT		0.403	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		4	76	0	0	0	1	0	4	76				
TLE4	7091	broad.mit.edu	37	9	82337508	82337508	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr9:82337508C>T	ENST00000376552.2	+	18	3147	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V	TLE4_ENST00000376520.4_Missense_Mutation_p.A742V|TLE4_ENST00000376534.4_Missense_Mutation_p.A347V|TLE4_ENST00000265284.6_Missense_Mutation_p.A685V|TLE4_ENST00000376544.3_Missense_Mutation_p.A641V|TLE4_ENST00000376537.4_Missense_Mutation_p.A742V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	710					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCAAGTTTGCCCATTGTGGT	0.453																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2224-2226)gCc>gTc		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							131.0	127.0	128.0					9																	82337508		2020	4202	6222	SO:0001583	missense	7091							g.chr9:82337508C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2129C>T	9.37:g.82337508C>T	ENSP00000365735:p.Ala710Val					TLE4_ENST00000376537.4_Missense_Mutation_p.A742V|TLE4_ENST00000376552.2_Missense_Mutation_p.A710V|TLE4_ENST00000265284.6_Missense_Mutation_p.A685V|TLE4_ENST00000376544.3_Missense_Mutation_p.A641V|TLE4_ENST00000376534.4_Missense_Mutation_p.A347V	p.A742V			O60756	BCE1_HUMAN			19	3053	+			49					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2225C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	36	5.837413	0.97009	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.81914	0.994;0.94;0.966;0.995	T	0.80661	-0.1283	10	0.87932	D	0	-24.4925	20.8794	0.99867	0.0:1.0:0.0:0.0	.	685;641;742;710	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	710;641;742;742;347;685	ENSP00000365735:A710V;ENSP00000365727:A641V;ENSP00000365703:A742V;ENSP00000365720:A742V;ENSP00000365717:A347V;ENSP00000265284:A685V	ENSP00000265284:A685V	A	+	2	0	TLE4	81527328	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GCC		0.453	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		3	47	0	0	0	1	0	3	47				
GUSBP11	91316	broad.mit.edu	37	22	23982579	23982579	+	RNA	SNP	C	C	T	rs547346032	byFrequency	TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr22:23982579C>T	ENST00000455485.1	-	0	3360				KB-1572G7.3_ENST00000390329.3_RNA|AP000347.4_ENST00000430707.2_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										CAGCATCTGGCGCCAGTCCAG	0.607																																						ENST00000430707.2																			0																																																			0							g.chr22:23982579C>T			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23982579C>T														0	370	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.607	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			3	41	0	0	0	1	0	3	41				
MARVELD3	91862	broad.mit.edu	37	16	71668183	71668183	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr16:71668183G>A	ENST00000268485.3	+	3	727	c.683G>A	c.(682-684)gGc>gAc	p.G228D	MARVELD3_ENST00000567501.1_Silent_p.G41G|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	228	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGCTACACGGGCATCACCAGC	0.557																																						ENST00000268485.3																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17						c.(682-684)gGc>gAc		MARVEL domain containing 3							95.0	98.0	97.0					16																	71668183		2198	4300	6498	SO:0001583	missense	91862					integral to membrane		g.chr16:71668183G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000268485.3:c.683G>A	16.37:g.71668183G>A	ENSP00000268485:p.Gly228Asp					MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Silent_p.G41G|MARVELD3_ENST00000565261.1_Intron	p.G228D	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN			3	727	+		Ovarian(137;0.125)	228			MARVEL.		A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000268485.3	37	c.683G>A	CCDS10904.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886502	0.72410	.	.	ENSG00000140832	ENST00000268485	T	0.43294	0.95	5.91	5.91	0.95273	Marvel (1);	.	.	.	.	T	0.51618	0.1685	L	0.50333	1.59	0.80722	D	1	D	0.61080	0.989	P	0.52758	0.708	T	0.31392	-0.9945	9	0.28530	T	0.3	.	19.2867	0.94077	0.0:0.0:1.0:0.0	.	228	Q96A59	MALD3_HUMAN	D	228	ENSP00000268485:G228D	ENSP00000268485:G228D	G	+	2	0	MARVELD3	70225684	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.076000	0.71267	2.793000	0.96121	0.655000	0.94253	GGC		0.557	MARVELD3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268991.2	NM_052858		4	121	0	0	0	1	0	4	121				
EPN3	55040	broad.mit.edu	37	17	48616673	48616673	+	Silent	SNP	C	C	T			TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr17:48616673C>T	ENST00000268933.3	+	5	1467	c.888C>T	c.(886-888)agC>agT	p.S296S	EPN3_ENST00000541226.1_Silent_p.S213S|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.S324S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	296						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TAAAAACCAGCCAGGTAGGGA	0.562																																						ENST00000268933.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(886-888)agC>agT		epsin 3							114.0	117.0	116.0					17																	48616673		2203	4300	6503	SO:0001819	synonymous_variant	55040					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding	g.chr17:48616673C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.888C>T	17.37:g.48616673C>T						EPN3_ENST00000541226.1_Silent_p.S213S|EPN3_ENST00000537145.1_Silent_p.S324S	p.S296S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.88e-09)		5	1467	+	Breast(11;1.23e-18)		296					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	ENST00000268933.3	37	c.888C>T	CCDS11570.1																																																																																				0.562	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957		3	35	0	0	0	1	0	3	35				
PRRC2C	23215	broad.mit.edu	37	1	171481317	171481318	+	Frame_Shift_Ins	INS	-	-	T	rs150244117	byFrequency	TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr1:171481317_171481318insT	ENST00000338920.4	+	2	327_328	c.90_91insT	c.(91-93)ttafs	p.L31fs	PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.L31fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Frame_Shift_Ins_p.L31fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.L31fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	31					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGGGGAAATCATTAGAAACACA	0.376																																						ENST00000367742.3																			0											c.(88-93)tctagafs		proline-rich coiled-coil 2C																																				SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171481317_171481318insT	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.92dupT	1.37:g.171481319_171481319dupT	ENSP00000343629:p.Leu31fs					PRRC2C_ENST00000338920.4_Frame_Shift_Ins_p.R31fs|PRRC2C_ENST00000392078.3_Frame_Shift_Ins_p.R31fs|PRRC2C_ENST00000426496.2_Frame_Shift_Ins_p.R31fs|PRRC2C_ENST00000476522.1_3'UTR	p.R31fs			Q9Y520	PRC2C_HUMAN			2	332_333	+			31					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Ins	INS	ENST00000338920.4	37	c.90_91insT	CCDS1296.2																																																																																				0.376	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		2	4						2	4	---	---	---	---
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-XJ-A9DQ-01A-11D-A377-08	TCGA-XJ-A9DQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63c1090d-e690-4db4-a8ed-fc1c352eb9e9	e67df746-03cd-41aa-a469-93b419fa7143	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																						ENST00000408133.1																			0																																																			0							g.chr14:70270922delT	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT														0	126	-									RNA	DEL	ENST00000408133.1	37																																																																																						0.353	SNORA11.1-201	NOVEL	basic	snoRNA	snoRNA		NR_002953		2	4						2	4	---	---	---	---
