#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
HUWE1	10075	broad.mit.edu	37	X	53588818	53588818	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chrX:53588818T>C	ENST00000342160.3	-	54	7863	c.7406A>G	c.(7405-7407)gAg>gGg	p.E2469G	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2469	Asp-rich.|Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGATAATCCTCATCCAATTC	0.468																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(7405-7407)gAg>gGg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							175.0	130.0	145.0					X																	53588818		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53588818T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7406A>G	X.37:g.53588818T>C	ENSP00000340648:p.Glu2469Gly					HUWE1_ENST00000262854.6_Missense_Mutation_p.E2469G	p.E2469G			Q7Z6Z7	HUWE1_HUMAN			54	7863	-			2469			Asp-rich.|Glu-rich.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.7406A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.22|12.22	1.872221|1.872221	0.33069|0.33069	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.54071|.	0.59;0.59|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.180655|.	0.38663|.	N|.	0.001609|.	T|.	0.42017|.	0.1184|.	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999993|0.999993	D;D|.	0.61080|.	0.981;0.989|.	D;D|.	0.70487|.	0.932;0.969|.	T|.	0.33727|.	-0.9857|.	10|.	0.66056|.	D|.	0.02|.	.|.	13.3489|13.3489	0.60591|0.60591	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2469;2469|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	G|W	2469|1502	ENSP00000340648:E2469G;ENSP00000262854:E2469G|.	ENSP00000262854:E2469G|.	E|X	-|-	2|3	0|0	HUWE1|HUWE1	53605543|53605543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.328000|7.328000	0.79160|0.79160	1.794000|1.794000	0.52575|0.52575	0.412000|0.412000	0.27726|0.27726	GAG|TGA		0.468	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		12	63	0	0	0	1	0	12	63				
TYW1	55253	broad.mit.edu	37	7	66479413	66479413	+	Silent	SNP	T	T	C			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00088}.				tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428																																						ENST00000359626.5																			1	Substitution - coding silent(1)	p.T145T(1)	urinary_tract(1)	breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(433-435)acT>acC		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)																																				SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66479413T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.435T>C	7.37:g.66479413T>C							p.T145T	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			5	599	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	145			Flavodoxin-like.		Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.435T>C	CCDS5538.1																																																																																				0.428	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	80	0	0	0	1	0	4	80				
PRICKLE3	4007	broad.mit.edu	37	X	49034506	49034506	+	Missense_Mutation	SNP	G	G	A	rs148273554		TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chrX:49034506G>A	ENST00000376317.3	-	7	885	c.791C>T	c.(790-792)aCg>aTg	p.T264M	PRICKLE3_ENST00000538114.1_Splice_Site_p.T251M|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	264	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CTCAGCCTCCGTGCACTCAGG	0.632																																						ENST00000376317.3																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						c.(790-792)aCg>aTg		prickle homolog 3 (Drosophila)		G	MET/THR	0,3835		0,0,0,1632,571	37.0	32.0	34.0		791	3.8	1.0	X	dbSNP_134	34	2,6726		0,1,1,2427,1871	yes	missense	PRICKLE3	NM_006150.3	81	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging	264/616	49034506	2,10561	2203	4300	6503	SO:0001583	missense	4007						protein binding|zinc ion binding	g.chrX:49034506G>A	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.791C>T	X.37:g.49034506G>A	ENSP00000365494:p.Thr264Met					PRICKLE3_ENST00000536904.1_Missense_Mutation_p.T183M|PRICKLE3_ENST00000538114.1_Splice_Site_p.T251_splice|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.T196M	p.T264M	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN			7	885	-			264			LIM zinc-binding 2.		B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	c.791C>T	CCDS14320.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527864	0.64860	0.0	2.97E-4	ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114	D;D;D;T	0.88354	-2.37;-2.37;-2.37;-0.78	4.67	3.78	0.43462	Zinc finger, LIM-type (5);	0.000000	0.39341	N	0.001387	D	0.92873	0.7733	M	0.75884	2.315	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;0.996	D;D;D;D	0.81914	0.981;0.97;0.995;0.91	D	0.92957	0.6385	10	0.87932	D	0	0.0076	9.9126	0.41415	0.1064:0.0:0.8936:0.0	.	264;226;183;264	B2RBS3;B7Z6S4;B7Z8F2;O43900	.;.;.;PRIC3_HUMAN	M	264;183;196;251	ENSP00000365494:T264M;ENSP00000441385:T183M;ENSP00000446051:T196M;ENSP00000441743:T251M	ENSP00000365494:T264M	T	-	2	0	PRICKLE3	48921450	1.000000	0.71417	0.972000	0.41901	0.862000	0.49288	7.618000	0.83043	2.138000	0.66242	0.416000	0.27883	ACG		0.632	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060811.1	NM_006150		15	21	0	0	0	1	0	15	21				
CHERP	10523	broad.mit.edu	37	19	16640583	16640583	+	Silent	SNP	C	C	T			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr19:16640583C>T	ENST00000198939.6	-	8	1074	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	CHERP_ENST00000546361.2_Silent_p.Q335Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						gctgctgttgctgctgctgct	0.667																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1005)caG>caA		calcium homeostasis endoplasmic reticulum protein							21.0	29.0	26.0					19																	16640583		2194	4294	6488	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640583C>T	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038G>A	19.37:g.16640583C>T						CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.Q346Q	p.Q335Q	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156	-			335			Gln-rich.			Silent	SNP	ENST00000198939.6	37	c.1005G>A																																																																																					0.667	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		3	32	0	0	0	1	0	3	32				
TMC7	79905	broad.mit.edu	37	16	19063129	19063129	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr16:19063129G>A	ENST00000304381.5	+	13	1992	c.1862G>A	c.(1861-1863)aGc>aAc	p.S621N	TMC7_ENST00000569532.1_Missense_Mutation_p.S621N|TMC7_ENST00000421369.3_Missense_Mutation_p.S511N	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	621					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTGACAATCAGCATATCACGG	0.403																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1531-1533)aGc>aAc		transmembrane channel-like 7							245.0	230.0	235.0					16																	19063129		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19063129G>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1862G>A	16.37:g.19063129G>A	ENSP00000304710:p.Ser621Asn					TMC7_ENST00000304381.5_Missense_Mutation_p.S621N|TMC7_ENST00000569532.1_Missense_Mutation_p.S621N	p.S511N	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN			13	2090	+			621					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1532G>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938721	0.92526	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.72835	-0.61;-0.69	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.80422	2.495	0.50039	D	0.999843	P;B	0.38420	0.63;0.431	B;B	0.40602	0.334;0.254	T	0.78909	-0.2018	10	0.52906	T	0.07	.	19.6767	0.95936	0.0:0.0:1.0:0.0	.	621;621	Q7Z402;B3KSZ3	TMC7_HUMAN;.	N	621;511	ENSP00000304710:S621N;ENSP00000397081:S511N	ENSP00000304710:S621N	S	+	2	0	TMC7	18970630	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.738000	0.91569	2.634000	0.89283	0.655000	0.94253	AGC		0.403	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		4	167	0	0	0	1	0	4	167				
SYNE2	23224	broad.mit.edu	37	14	64450466	64450466	+	Silent	SNP	G	G	A	rs371320284	byFrequency	TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr14:64450466G>A	ENST00000344113.4	+	18	2225	c.2013G>A	c.(2011-2013)ctG>ctA	p.L671L	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.L671L|SYNE2_ENST00000358025.3_Silent_p.L671L	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	671					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATGAACCTGCCACTGATGA	0.284													G|||	5	0.000998403	0.0	0.0	5008	,	,		14120	0.0		0.0	False		,,,				2504	0.0051					ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2011-2013)ctG>ctA		spectrin repeat containing, nuclear envelope 2		G	,	0,3590		0,0,1795	39.0	37.0	38.0		2013,2013	-3.2	0.0	14		38	1,8119		0,1,4059	no	coding-synonymous,coding-synonymous	SYNE2	NM_015180.4,NM_182914.2	,	0,1,5854	AA,AG,GG		0.0123,0.0,0.0085	,	671/6886,671/6908	64450466	1,11709	1795	4060	5855	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64450466G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2013G>A	14.37:g.64450466G>A						SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.L671L|SYNE2_ENST00000554584.1_Silent_p.L671L	p.L671L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	18	2243	+			671					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2013G>A	CCDS41963.1																																																																																				0.284	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	46	0	0	0	1	0	8	46				
RXRB	6257	broad.mit.edu	37	6	33163151	33163151	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr6:33163151A>G	ENST00000374680.3	-	8	1548	c.1337T>C	c.(1336-1338)cTg>cCg	p.L446P	RXRB_ENST00000544186.1_Missense_Mutation_p.L260P|COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000395197.1_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|RXRB_ENST00000374685.4_Missense_Mutation_p.L450P|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000395194.1_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	446	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGATTAAACAGAATGATTGC	0.527																																						ENST00000374680.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(1336-1338)cTg>cCg		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						128.0	123.0	125.0					6																	33163151		1510	2709	4219	SO:0001583	missense	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33163151A>G	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1337T>C	6.37:g.33163151A>G	ENSP00000363812:p.Leu446Pro					RXRB_ENST00000374685.4_Missense_Mutation_p.L450P|RXRB_ENST00000544186.1_Missense_Mutation_p.L260P	p.L446P	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN			8	1548	-			446			Ligand-binding (By similarity).		P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.1337T>C	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.366725	0.61513	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	D;D;D	0.82167	-1.58;-1.58;-1.58	5.12	5.12	0.69794	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000001	D	0.94231	0.8148	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96035	0.9020	10	0.87932	D	0	.	12.9206	0.58230	1.0:0.0:0.0:0.0	.	260;446;490;446	E9PK95;Q5STP9;Q59G65;P28702	.;.;.;RXRB_HUMAN	P	450;446;260	ENSP00000363817:L450P;ENSP00000363812:L446P;ENSP00000439222:L260P	ENSP00000363812:L446P	L	-	2	0	RXRB	33271129	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.752000	0.91632	2.139000	0.66308	0.523000	0.50628	CTG		0.527	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		27	40	0	0	0	1	0	27	40				
MKI67	4288	broad.mit.edu	37	10	129913862	129913862	+	Silent	SNP	G	G	A	rs201621002		TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr10:129913862G>A	ENST00000368654.3	-	7	1185	c.810C>T	c.(808-810)taC>taT	p.Y270Y	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	270					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTCTGTTGCGTAATCAGTTT	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20366	0.0		0.001	False		,,,				2504	0.0					ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(808-810)taC>taT		marker of proliferation Ki-67							85.0	88.0	87.0					10																	129913862		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913862G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.810C>T	10.37:g.129913862G>A						MKI67_ENST00000368653.3_Intron	p.Y270Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1185	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	270					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.810C>T	CCDS7659.1																																																																																				0.428	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		3	37	0	0	0	1	0	3	37				
SLC22A12	116085	broad.mit.edu	37	11	64359373	64359373	+	Silent	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr11:64359373G>A	ENST00000377574.1	+	1	1092	c.345G>A	c.(343-345)ccG>ccA	p.P115P	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P|SLC22A12_ENST00000377567.2_Silent_p.P115P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	115					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	ACACGGAGCCGTGTGTGGATG	0.662																																						ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(343-345)ccG>ccA		solute carrier family 22 (organic anion/urate transporter), member 12							32.0	35.0	34.0					11																	64359373		2201	4297	6498	SO:0001819	synonymous_variant	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359373G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.345G>A	11.37:g.64359373G>A						SLC22A12_ENST00000377567.2_Silent_p.P115P|SLC22A12_ENST00000377572.1_Silent_p.P115P|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.P115P	p.P115P	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			1	1092	+			115					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	c.345G>A	CCDS8075.1																																																																																				0.662	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		26	3	0	0	0	1	0	26	3				
ME3	10873	broad.mit.edu	37	11	86382833	86382833	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr11:86382833C>T	ENST00000393324.3	-	1	407	c.154G>A	c.(154-156)Gat>Aat	p.D52N	ME3_ENST00000543262.1_Missense_Mutation_p.D52N|ME3_ENST00000359636.2_Missense_Mutation_p.D52N	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	52					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CTGGTGACATCGTATCCGCGC	0.701																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(154-156)Gat>Aat		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						49.0	47.0	48.0					11																	86382833		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86382833C>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.154G>A	11.37:g.86382833C>T	ENSP00000376998:p.Asp52Asn					ME3_ENST00000359636.2_Missense_Mutation_p.D52N|ME3_ENST00000393324.3_Missense_Mutation_p.D52N	p.D52N	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			2	480	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	52					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.154G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421899	0.96111	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000530335;ENST00000532471;ENST00000526834;ENST00000526944	T;T;T;T;T;T;T;T	0.56275	2.44;2.44;2.44;2.44;2.44;0.47;0.47;0.47	5.16	5.16	0.70880	.	0.101483	0.64402	N	0.000004	T	0.46073	0.1374	L	0.39245	1.2	0.80722	D	1	B	0.32010	0.351	B	0.35655	0.207	T	0.36261	-0.9755	9	.	.	.	.	14.2024	0.65712	0.0:1.0:0.0:0.0	.	52	Q16798	MAON_HUMAN	N	52	ENSP00000352657:D52N;ENSP00000440246:D52N;ENSP00000376998:D52N;ENSP00000431182:D52N;ENSP00000434690:D52N;ENSP00000435427:D52N;ENSP00000437204:D52N;ENSP00000434431:D52N	.	D	-	1	0	ME3	86060481	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.300000	0.59079	2.408000	0.81797	0.555000	0.69702	GAT		0.701	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			6	54	0	0	0	1	0	6	54				
KLRC3	3823	broad.mit.edu	37	12	10587970	10587970	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr12:10587970A>T	ENST00000539033.1	-	2	241	c.227T>A	c.(226-228)cTa>cAa	p.L76Q	KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000381902.2_Missense_Mutation_p.L76Q|KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q																							AATGATTCCTAGGACCTCGGC	0.423																																						ENST00000381902.2																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(226-228)cTa>cAa		killer cell lectin-like receptor subfamily C, member 2							183.0	204.0	197.0					12																	10587970		2202	4298	6500	SO:0001583	missense	3822				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10587970A>T																												ENST00000539033.1:c.227T>A	12.37:g.10587970A>T	ENSP00000437563:p.Leu76Gln					KLRC2_ENST00000381901.1_Missense_Mutation_p.L76Q|NKG2-E_ENST00000539033.1_Missense_Mutation_p.L76Q|KLRC2_ENST00000536833.2_Missense_Mutation_p.L17Q	p.L76Q	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN			2	233	-			76						Missense_Mutation	SNP	ENST00000539033.1	37	c.227T>A		.	.	.	.	.	.	.	.	.	.	A	14.29	2.490623	0.44249	.	.	ENSG00000255641;ENSG00000205809;ENSG00000205809;ENSG00000205809	ENST00000539033;ENST00000381902;ENST00000381901;ENST00000536833	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	2.99	2.99	0.34606	C-type lectin fold (1);	0.000000	0.40144	N	0.001178	T	0.38161	0.1030	M	0.94021	3.485	0.32719	N	0.510577	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.57021	-0.7882	10	0.87932	D	0	.	8.1179	0.30955	1.0:0.0:0.0:0.0	.	62;76;76	Q3KQS7;P26717;F5H6K3	.;NKG2C_HUMAN;.	Q	76;76;76;17	ENSP00000437563:L76Q;ENSP00000371327:L76Q;ENSP00000371326:L76Q;ENSP00000444754:L17Q	ENSP00000371326:L76Q	L	-	2	0	KLRC2;RP11-277P12.6	10479237	0.824000	0.29247	0.083000	0.20561	0.009000	0.06853	3.090000	0.50191	1.341000	0.45600	0.414000	0.27820	CTA		0.423	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1			32	79	0	0	0	1	0	32	79				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	35	0	0	0	1	0	3	35				
LAMA3	3909	broad.mit.edu	37	18	21474265	21474265	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr18:21474265G>A	ENST00000313654.9	+	43	5655	c.5414G>A	c.(5413-5415)tGc>tAc	p.C1805Y	LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y|LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y|AC010754.1_ENST00000408462.1_RNA|LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1805	Domain III A.|Laminin EGF-like 15; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ATTTTAGACTGCATAAACCAA	0.373																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(5413-5415)tGc>tAc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						93.0	91.0	92.0					18																	21474265		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21474265G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5414G>A	18.37:g.21474265G>A	ENSP00000324532:p.Cys1805Tyr					LAMA3_ENST00000587184.1_Missense_Mutation_p.C196Y|LAMA3_ENST00000399516.3_Missense_Mutation_p.C1805Y|LAMA3_ENST00000269217.6_Missense_Mutation_p.C196Y	p.C1805Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			43	5655	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1805			Domain III A.|Laminin EGF-like 15; truncated.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5414G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783142	0.70222	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.57595	0.39;0.81;2.16	5.63	5.63	0.86233	.	.	.	.	.	T	0.71459	0.3342	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.76494	0.989;0.991;0.999;0.992	P;P;D;P	0.68192	0.768;0.822;0.956;0.907	T	0.73531	-0.3953	9	0.87932	D	0	.	16.9486	0.86237	0.0:0.0:1.0:0.0	.	196;196;1805;1805	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Y	1805;1805;196	ENSP00000324532:C1805Y;ENSP00000382432:C1805Y;ENSP00000269217:C196Y	ENSP00000269217:C196Y	C	+	2	0	LAMA3	19728263	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	5.405000	0.66351	2.797000	0.96272	0.655000	0.94253	TGC		0.373	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		3	36	0	0	0	1	0	3	36				
TEX10	54881	broad.mit.edu	37	9	103109543	103109543	+	Missense_Mutation	SNP	T	T	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr9:103109543T>A	ENST00000374902.4	-	3	502	c.326A>T	c.(325-327)gAt>gTt	p.D109V	TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	109						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGCATCTTTATCTGTAAACAC	0.368																																						ENST00000374902.4																			0				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38						c.(325-327)gAt>gTt		testis expressed 10							145.0	152.0	150.0					9																	103109543		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109543T>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.326A>T	9.37:g.103109543T>A	ENSP00000364037:p.Asp109Val					TEX10_ENST00000537512.1_Missense_Mutation_p.D44V|TEX10_ENST00000535814.1_Missense_Mutation_p.D112V	p.D109V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	502	-		Acute lymphoblastic leukemia(62;0.0527)	109					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.326A>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740337	0.69304	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.70631	-0.5;-0.5;-0.5	5.54	5.54	0.83059	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88112	0.6349	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.91252	0.5030	10	0.87932	D	0	-11.3728	15.6679	0.77247	0.0:0.0:0.0:1.0	.	44;112;109	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	V	112;109;44	ENSP00000444555:D112V;ENSP00000364037:D109V;ENSP00000438120:D44V	ENSP00000364037:D109V	D	-	2	0	TEX10	102149364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.092000	0.63282	0.482000	0.46254	GAT		0.368	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		24	136	0	0	0	1	0	24	136				
VPRBP	9730	broad.mit.edu	37	3	51455620	51455620	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr3:51455620C>A	ENST00000335891.5	-	9	2130	c.2121G>T	c.(2119-2121)tgG>tgT	p.W707C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1156					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AAGGCTGGCTCCAAGTAGCAG	0.423																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(2119-2121)tgG>tgT		Vpr (HIV-1) binding protein							57.0	54.0	55.0					3																	51455620		1920	4126	6046	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51455620C>A	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2121G>T	3.37:g.51455620C>A	ENSP00000338857:p.Trp707Cys						p.W707C			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	9	2130	-			1156					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.2121G>T		.	.	.	.	.	.	.	.	.	.	C	24.5	4.535880	0.85812	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.57595	0.39;0.39	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.65940	-0.6046	10	0.52906	T	0.07	-10.0922	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1156	Q9Y4B6	VPRBP_HUMAN	C	727;707	ENSP00000393183:W727C;ENSP00000338857:W707C	ENSP00000338857:W707C	W	-	3	0	VPRBP	51430660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	TGG		0.423	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		3	9	1	0	0.004672	1	0.004672	3	9				
RSRC2	65117	broad.mit.edu	37	12	122999719	122999724	+	In_Frame_Del	DEL	TCCGGC	TCCGGC	-	rs202041060	byFrequency	TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr12:122999719_122999724delTCCGGC	ENST00000331738.7	-	6	798_803	c.653_658delGCCGGA	c.(652-660)agccggact>act	p.SR218del	RSRC2_ENST00000392442.2_5'Flank|RSRC2_ENST00000354654.2_In_Frame_Del_p.SR170del	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	218							poly(A) RNA binding (GO:0044822)	p.S218S(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGACTTGGAGTCCGGCTTAAACTTCT	0.383																																						ENST00000331738.7																			1	Substitution - coding silent(1)	p.S218S(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24						c.(652-660)act>a		arginine/serine-rich coiled-coil 2																																				SO:0001651	inframe_deletion	65117							g.chr12:122999719_122999724delTCCGGC	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.653_658delGCCGGA	12.37:g.122999719_122999724delTCCGGC	ENSP00000330188:p.Ser218_Arg219del					RSRC2_ENST00000354654.2_In_Frame_Del_p.SRT170del	p.SRT218del	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	6	798_803	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		218					Q6N040|Q6NW16|Q9H864	In_Frame_Del	DEL	ENST00000331738.7	37	c.653_658delGCCGGA	CCDS31920.1																																																																																				0.383	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3	NM_023012		8	72						8	72	---	---	---	---
KRT17P6	284196	broad.mit.edu	37	17	20419214	20419214	+	RNA	DEL	C	C	-			TCGA-QR-A70E-01A-11D-A35D-08	TCGA-QR-A70E-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b7d38f1-4383-4d92-bb51-1943a60fb07f	9f198537-b3e9-4047-96d3-69814d9b93db	g.chr17:20419214delC	ENST00000581013.1	-	0	319																											GCTGCCCAAGCCCACAGCTAG	0.602																																						ENST00000581013.1																			0																																																			284196							g.chr17:20419214delC																													17.37:g.20419214delC														0	319	-									RNA	DEL	ENST00000581013.1	37																																																																																						0.602	AC025627.9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443766.1			2	4						2	4	---	---	---	---
