#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
DNAH1	25981	broad.mit.edu	37	3	52383001	52383001	+	Missense_Mutation	SNP	G	G	A	rs187636110	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr3:52383001G>A	ENST00000420323.2	+	13	2465	c.2204G>A	c.(2203-2205)aGt>aAt	p.S735N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	735	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCATTGCCAGTGCCGTGTCC	0.577													G|||	4	0.000798722	0.0	0.0	5008	,	,		22244	0.0		0.004	False		,,,				2504	0.0					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(2203-2205)aGt>aAt		dynein, axonemal, heavy chain 1		G	ASN/SER	4,4340		0,4,2168	126.0	131.0	129.0		2204	2.8	0.0	3		129	52,8498		1,50,4224	yes	missense	DNAH1	NM_015512.4	46	1,54,6392	AA,AG,GG		0.6082,0.0921,0.4343	benign	735/4266	52383001	56,12838	2172	4275	6447	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52383001G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.2204G>A	3.37:g.52383001G>A	ENSP00000401514:p.Ser735Asn						p.S735N	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	13	2465	+			735			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.2204G>A	CCDS46842.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	0.228	-1.023508	0.02061	9.21E-4	0.006082	ENSG00000114841	ENST00000420323	T	0.22539	1.95	5.24	2.83	0.33086	.	0.547984	0.16508	N	0.211344	T	0.03348	0.0097	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.40040	-0.9584	10	0.14252	T	0.57	.	5.7278	0.18022	0.561:0.2651:0.1739:0.0	.	735;735	C9JXH6;Q9P2D7-3	.;.	N	735	ENSP00000401514:S735N	ENSP00000401514:S735N	S	+	2	0	DNAH1	52358041	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.296000	0.19083	0.310000	0.22990	-0.302000	0.09304	AGT		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		4	87	0	0	0	1	0	4	87				
RGS12	6002	broad.mit.edu	37	4	3441340	3441340	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr4:3441340C>T	ENST00000344733.5	+	18	5177	c.4273C>T	c.(4273-4275)Cct>Tct	p.P1425S	RGS12_ENST00000338806.4_Missense_Mutation_p.P777S|HGFAC_ENST00000511533.1_5'Flank|HGFAC_ENST00000382774.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1425					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCAGACCTCCCTGGCTTGGG	0.692																																						ENST00000344733.5																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(4273-4275)Cct>Tct		regulator of G-protein signaling 12							25.0	23.0	24.0					4																	3441340		2200	4296	6496	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3441340C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4273C>T	4.37:g.3441340C>T	ENSP00000339381:p.Pro1425Ser					RGS12_ENST00000338806.4_Missense_Mutation_p.P777S	p.P1425S	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	18	5177	+			1425					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.4273C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165122	0.57476	.	.	ENSG00000159788	ENST00000344733;ENST00000338806	T;T	0.64991	0.38;-0.13	3.18	3.18	0.36537	.	0.472738	0.16262	U	0.222217	T	0.64962	0.2646	N	0.24115	0.695	0.36167	D	0.848509	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.992	T	0.71632	-0.4534	10	0.87932	D	0	-12.4309	10.1175	0.42601	0.0:1.0:0.0:0.0	.	767;777;1425	O14924-2;O14924-3;O14924	.;.;RGS12_HUMAN	S	1425;777	ENSP00000339381:P1425S;ENSP00000342133:P777S	ENSP00000342133:P777S	P	+	1	0	RGS12	3411138	0.000000	0.05858	0.052000	0.19188	0.041000	0.13682	0.062000	0.14389	2.079000	0.62486	0.462000	0.41574	CCT		0.692	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		3	25	0	0	0	1	0	3	25				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	43	0	0	0	1	0	3	43				
CHST1	8534	broad.mit.edu	37	11	45671241	45671241	+	Silent	SNP	C	C	G	rs7115779	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:45671241C>G	ENST00000308064.2	-	4	1903	c.1233G>C	c.(1231-1233)tcG>tcC	p.S411S	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	411					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCCGGGTCACGAGAAGGGGC	0.627													C|||	12	0.00239617	0.0	0.0014	5008	,	,		14438	0.0		0.007	False		,,,				2504	0.0041					ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(1231-1233)tcG>tcC		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1		C		5,4395		0,5,2195	32.0	40.0	38.0		1233	4.4	1.0	11	dbSNP_116	38	30,8532		0,30,4251	yes	coding-synonymous	CHST1	NM_003654.5		0,35,6446	GG,GC,CC		0.3504,0.1136,0.27		411/412	45671241	35,12927	2200	4281	6481	SO:0001819	synonymous_variant	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671241C>G	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1233G>C	11.37:g.45671241C>G							p.S411S	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1903	-			411					D3DQP2	Silent	SNP	ENST00000308064.2	37	c.1233G>C	CCDS7913.1																																																																																				0.627	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		6	151	0	0	0	1	0	6	151				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	81	0	0	0	1	0	5	81				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		4	81	0	0	0	1	0	4	81				
RTEL1	51750	broad.mit.edu	37	20	62324223	62324223	+	Missense_Mutation	SNP	G	G	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr20:62324223G>T	ENST00000360203.5	+	29	3043	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D	RTEL1_ENST00000370003.1_Missense_Mutation_p.E151D|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906D|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930D|RTEL1_ENST00000318100.4_Missense_Mutation_p.E906D					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGAAGCAGGAGTTGAGCCAAG	0.647																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2716-2718)gaG>gaT		regulator of telomere elongation helicase 1							99.0	92.0	95.0					20																	62324223		2199	4294	6493	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324223G>T	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2718G>T	20.37:g.62324223G>T	ENSP00000353332:p.Glu906Asp					RTEL1_ENST00000370003.1_Missense_Mutation_p.E151D|RTEL1_ENST00000370018.3_Missense_Mutation_p.E906D|RTEL1_ENST00000360203.5_Missense_Mutation_p.E906D|RTEL1_ENST00000508582.2_Missense_Mutation_p.E930D|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.E906D	p.E906D			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		29	3545	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		906						Missense_Mutation	SNP	ENST00000360203.5	37	c.2718G>T		.	.	.	.	.	.	.	.	.	.	G	5.304	0.241465	0.10077	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83	4.59	-9.18	0.00688	.	0.256722	0.39210	N	0.001425	T	0.05364	0.0142	N	0.22421	0.69	0.09310	N	0.999997	B;P;B;B	0.43662	0.114;0.814;0.018;0.057	B;P;B;B	0.45195	0.089;0.473;0.039;0.159	T	0.28332	-1.0047	10	0.25106	T	0.35	-7.4568	5.1583	0.15046	0.5074:0.2625:0.1645:0.0656	.	930;151;906;906	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	D	906;906;930;906;151	ENSP00000359035:E906D;ENSP00000322287:E906D;ENSP00000424307:E930D;ENSP00000353332:E906D;ENSP00000359020:E151D	ENSP00000353332:E906D	E	+	3	2	AL353715.1	61794667	0.000000	0.05858	0.070000	0.20053	0.171000	0.22731	-2.086000	0.01361	-3.881000	0.00095	-1.744000	0.00683	GAG		0.647	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		6	151	1	0	2.0095e-06	1	2.18174e-06	6	151				
HCP5	10866	broad.mit.edu	37	6	31431874	31431874	+	RNA	SNP	G	G	T	rs2395030	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr6:31431874G>T	ENST00000414046.2	+	0	946					NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						tgcagagtgtggttttgggag	0.507													g|||	267	0.0533147	0.003	0.0403	5008	,	,		19936	0.0784		0.0586	False		,,,				2504	0.0992					ENST00000414046.2																			0				urinary_tract(1)	1												35,4371		1,33,2169	50.0	53.0	52.0				0.0	6	dbSNP_100	52	408,8192		18,372,3910	no	utr-3	HCP5	NM_006674.3		19,405,6079	TT,TG,GG		4.7442,0.7944,3.4061			31431874	443,12563	2203	4300	6503			0				defense response			g.chr6:31431874G>T	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31431874G>T								NR_040662.1		Q6MZN7	HCP5_HUMAN			0	946	+								Q04490	RNA	SNP	ENST00000414046.2	37																																																																																						0.507	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		4	72	1	0	0.00024832	1	0.000262116	4	72				
OR5T2	219464	broad.mit.edu	37	11	56000210	56000210	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr11:56000210C>T	ENST00000313264.4	-	1	527	c.452G>A	c.(451-453)tGc>tAc	p.C151Y		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAGAGAAAGCATTCTGTGGT	0.418																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(451-453)tGc>tAc		olfactory receptor, family 5, subfamily T, member 2							180.0	154.0	162.0					11																	56000210		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000210C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.452G>A	11.37:g.56000210C>T	ENSP00000323688:p.Cys151Tyr						p.C151Y	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	527	-	Esophageal squamous(21;0.00448)		151					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.452G>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483679	0.44147	.	.	ENSG00000181718	ENST00000313264	T	0.01685	4.69	5.07	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.150362	0.30930	U	0.008599	T	0.09468	0.0233	M	0.82132	2.575	0.09310	N	1	D	0.76494	0.999	D	0.72338	0.977	T	0.02596	-1.1136	10	0.56958	D	0.05	.	11.368	0.49684	0.0:0.8461:0.0:0.1539	.	151	Q8NGG2	OR5T2_HUMAN	Y	151	ENSP00000323688:C151Y	ENSP00000323688:C151Y	C	-	2	0	OR5T2	55756786	0.000000	0.05858	0.963000	0.40424	0.706000	0.40770	0.024000	0.13555	1.267000	0.44247	0.471000	0.43371	TGC		0.418	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		59	85	0	0	0	1	0	59	85				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	141	0	0	0	1	0	7	141				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	26	0	0	0	1	0	3	26				
HDAC10	83933	broad.mit.edu	37	22	50686833	50686833	+	Silent	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:50686833C>T	ENST00000216271.5	-	11	1327	c.975G>A	c.(973-975)ccG>ccA	p.P325P	HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Silent_p.P305P|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.P275P	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	325					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGGTGGGGCCGGGTCACCCA	0.657																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(973-975)ccG>ccA		histone deacetylase 10							38.0	40.0	39.0					22																	50686833		2201	4300	6501	SO:0001819	synonymous_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50686833C>T	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.975G>A	22.37:g.50686833C>T						MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Silent_p.P275P|HDAC10_ENST00000349505.4_Silent_p.P305P|HDAC10_ENST00000498366.1_5'UTR	p.P325P	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	11	1327	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	325					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Silent	SNP	ENST00000216271.5	37	c.975G>A	CCDS14088.1																																																																																				0.657	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		8	52	0	0	0	1	0	8	52				
ATP6V1B1	525	broad.mit.edu	37	2	71187160	71187160	+	Silent	SNP	C	C	T	rs545034098		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:71187160C>T	ENST00000234396.4	+	6	610	c.537C>T	c.(535-537)cgC>cgT	p.R179R	ATP6V1B1_ENST00000412314.1_Silent_p.R179R|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	179					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)	p.R179R(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCATTGCCCGCGGCCAGAAGA	0.627																																						ENST00000234396.4																			1	Substitution - coding silent(1)	p.R179R(1)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						c.(535-537)cgC>cgT		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1							67.0	64.0	65.0					2																	71187160		2203	4300	6503	SO:0001819	synonymous_variant	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71187160C>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.537C>T	2.37:g.71187160C>T						AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.R179R	p.R179R	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN			6	610	+			179					Q53FY0|Q6P4H6	Silent	SNP	ENST00000234396.4	37	c.537C>T	CCDS1912.1																																																																																				0.627	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		27	55	0	0	0	1	0	27	55				
BOC	91653	broad.mit.edu	37	3	112969645	112969645	+	Missense_Mutation	SNP	C	C	T			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr3:112969645C>T	ENST00000495514.1	+	4	1045	c.341C>T	c.(340-342)gCt>gTt	p.A114V	BOC_ENST00000484034.1_Missense_Mutation_p.A114V|BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	114	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CCTGCGGGGGCTGTGGCCAGC	0.637																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(340-342)gCt>gTt		BOC cell adhesion associated, oncogene regulated							46.0	46.0	46.0					3																	112969645		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112969645C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.341C>T	3.37:g.112969645C>T	ENSP00000418663:p.Ala114Val					BOC_ENST00000273395.4_Missense_Mutation_p.A114V|BOC_ENST00000485230.1_Missense_Mutation_p.A114V|BOC_ENST00000355385.3_Missense_Mutation_p.A114V|BOC_ENST00000484034.1_Missense_Mutation_p.A114V	p.A114V			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		4	1045	+			114			Ig-like C2-type 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.341C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.031180	0.75504	.	.	ENSG00000144857	ENST00000495514;ENST00000485230;ENST00000273395;ENST00000355385;ENST00000484034	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.67	5.67	0.87782	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.063203	0.64402	D	0.000007	T	0.14184	0.0343	L	0.46157	1.445	0.42239	D	0.991923	B;B;P	0.41498	0.016;0.091;0.752	B;B;B	0.40659	0.049;0.19;0.336	T	0.02232	-1.1191	9	.	.	.	.	10.8392	0.46704	0.0:0.8858:0.0:0.1142	.	114;114;114	Q9BWV1-3;Q9BWV1;Q96DN7	.;BOC_HUMAN;.	V	114	ENSP00000418663:A114V;ENSP00000420154:A114V;ENSP00000273395:A114V;ENSP00000347546:A114V;ENSP00000417337:A114V	.	A	+	2	0	BOC	114452335	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.579000	0.67457	2.688000	0.91661	0.550000	0.68814	GCT		0.637	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		4	54	0	0	0	1	0	4	54				
LRP1	4035	broad.mit.edu	37	12	57579590	57579590	+	Missense_Mutation	SNP	C	C	T	rs140707279	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr12:57579590C>T	ENST00000243077.3	+	41	7206	c.6740C>T	c.(6739-6741)aCc>aTc	p.T2247I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2247					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGCAGGCACCTCTCCGGGC	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		18297	0.001		0.001	False		,,,				2504	0.0					ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(6739-6741)aCc>aTc		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						109.0	101.0	104.0					12																	57579590		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57579590C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6740C>T	12.37:g.57579590C>T	ENSP00000243077:p.Thr2247Ile						p.T2247I	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	41	7206	+			2247					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.6740C>T	CCDS8932.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	21.0	4.089741	0.76756	.	.	ENSG00000123384	ENST00000243077	D	0.90133	-2.62	5.03	4.12	0.48240	Six-bladed beta-propeller, TolB-like (1);	0.165528	0.40908	D	0.000984	T	0.79015	0.4375	N	0.08118	0	0.80722	D	1	B	0.18461	0.028	B	0.14578	0.011	T	0.73827	-0.3860	10	0.25106	T	0.35	.	11.4033	0.49883	0.0:0.5962:0.4038:0.0	.	2247	Q07954	LRP1_HUMAN	I	2247	ENSP00000243077:T2247I	ENSP00000243077:T2247I	T	+	2	0	LRP1	55865857	0.999000	0.42202	1.000000	0.80357	0.972000	0.66771	2.735000	0.47377	2.340000	0.79590	0.491000	0.48974	ACC		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	78	0	0	0	1	0	4	78				
WBSCR27	155368	broad.mit.edu	37	7	73249155	73249155	+	Missense_Mutation	SNP	G	G	A	rs141298816		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:73249155G>A	ENST00000297873.4	-	6	705	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	219										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CAGAGATGCCGGATACCACCT	0.637													g|||	1	0.000199681	0.0	0.0	5008	,	,		15696	0.0		0.001	False		,,,				2504	0.0					ENST00000297873.4																			0				NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5						c.(655-657)cCg>cTg		Williams Beuren syndrome chromosome region 27		A	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	68.0	62.0	64.0		656	-6.9	0.0	7	dbSNP_134	64	19,8581	13.3+/-46.6	0,19,4281	yes	missense	WBSCR27	NM_152559.2	98	0,20,6483	AA,AG,GG		0.2209,0.0227,0.1538	benign	219/246	73249155	20,12986	2203	4300	6503	SO:0001583	missense	155368							g.chr7:73249155G>A	AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.656C>T	7.37:g.73249155G>A	ENSP00000297873:p.Pro219Leu						p.P219L	NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN			6	705	-		Lung NSC(55;0.159)	219						Missense_Mutation	SNP	ENST00000297873.4	37	c.656C>T	CCDS5561.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.679	-0.799002	0.02841	2.27E-4	0.002209	ENSG00000165171	ENST00000297873	T	0.58210	0.35	4.76	-6.87	0.01671	.	2.414770	0.01772	N	0.031227	T	0.28167	0.0695	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.07366	-1.0776	10	0.30854	T	0.27	1.5246	1.813	0.03094	0.4394:0.2366:0.2045:0.1194	.	219	Q8N6F8	WBS27_HUMAN	L	219	ENSP00000297873:P219L	ENSP00000297873:P219L	P	-	2	0	WBSCR27	72887091	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-2.515000	0.00955	-1.772000	0.01292	-0.231000	0.12243	CCG		0.637	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559		4	93	0	0	0	1	0	4	93				
MT-CYB	4519	broad.mit.edu	37	M	15579	15579	+	Missense_Mutation	SNP	A	A	G			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chrM:15579A>G	ENST00000361789.2	+	1	833	c.833A>G	c.(832-834)tAc>tGc	p.Y278C	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	278			Y -> C (in multisystem disorder). {ECO:0000269|PubMed:11601507}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CCTATTCGCCTACACAATTCT	0.483											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(832-834)tAc>tGc		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15579A>G			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.833A>G	M.37:g.15579A>G	ENSP00000354554:p.Tyr278Cys		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.278_278insC							1	833	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.833A>G																																																																																					0.483	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		14	2	0	0	0	1	0	14	2				
FBXL14	144699	broad.mit.edu	37	12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(142-144)gTg>gGg		F-box and leucine-rich repeat protein 14							7.0	9.0	8.0					12																	1703090		2147	4245	6392	SO:0001583	missense	144699					cytoplasm		g.chr12:1703090A>C	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly					WNT5B_ENST00000537031.1_Intron	p.V48G	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	241	-	Ovarian(42;0.107)		48			F-box.|Required for down-regulation of SNAI1.			Missense_Mutation	SNP	ENST00000339235.3	37	c.143T>G	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG		0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		4	9	0	0	0	1	0	4	9				
GRM6	2916	broad.mit.edu	37	5	178413693	178413693	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr5:178413693G>A	ENST00000517717.1	-	9	1600	c.1562C>T	c.(1561-1563)cCc>cTc	p.P521L	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.P521L			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	521					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGGCCCGCAGGGCAGGCTGCA	0.677																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1561-1563)cCc>cTc		glutamate receptor, metabotropic 6							30.0	31.0	31.0					5																	178413693		2203	4295	6498	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413693G>A	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1562C>T	5.37:g.178413693G>A	ENSP00000430767:p.Pro521Leu					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.P521L	p.P521L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1740	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	521						Missense_Mutation	SNP	ENST00000517717.1	37	c.1562C>T	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884748	0.72410	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.90324	-2.65;-2.65	4.63	4.63	0.57726	GPCR, family 3, nine cysteines domain (1);	.	.	.	.	D	0.95664	0.8590	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	D	0.96403	0.9298	9	0.87932	D	0	.	15.3541	0.74415	0.0:0.0:1.0:0.0	.	677;521	E7EX65;O15303	.;GRM6_HUMAN	L	677;521;521	ENSP00000231188:P521L;ENSP00000430767:P521L	ENSP00000231188:P521L	P	-	2	0	GRM6	178346299	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.661000	0.98601	2.281000	0.76405	0.462000	0.41574	CCC		0.677	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			4	73	0	0	0	1	0	4	73				
ARHGAP8	23779	broad.mit.edu	37	22	45244819	45244819	+	Silent	SNP	C	C	T	rs202116130	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr22:45244819C>T	ENST00000389774.2	+	11	990	c.849C>T	c.(847-849)ccC>ccT	p.P283P	ARHGAP8_ENST00000356099.6_Silent_p.P252P|ARHGAP8_ENST00000336963.4_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000389773.5_Silent_p.P374P|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.P462P|ARHGAP8_ENST00000517296.3_Silent_p.P462P	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CAGGGAAGCCCGTGAACTTTG	0.617													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18545	0.0		0.0	False		,,,				2504	0.0					ENST00000352766.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						c.(1384-1386)ccC>ccT									186.0	141.0	156.0					22																	45244819		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr22:45244819C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.849C>T	22.37:g.45244819C>T						ARHGAP8_ENST00000517296.3_Silent_p.P462P|ARHGAP8_ENST00000336963.4_Silent_p.P252P|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.P383P|ARHGAP8_ENST00000356099.6_Silent_p.P252P|ARHGAP8_ENST00000389774.2_Silent_p.P283P|ARHGAP8_ENST00000389773.5_Silent_p.P374P	p.P462P							15	1386	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Silent	SNP	ENST00000389774.2	37	c.1386C>T	CCDS33664.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.751	0.139675	0.09083	.	.	ENSG00000248405	ENST00000515632	T	0.18174	2.23	3.84	-4.52	0.03472	.	0.000000	0.34879	U	0.003618	T	0.19967	0.0480	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07083	-1.0791	7	0.62326	D	0.03	.	6.2884	0.21047	0.0:0.3099:0.1395:0.5506	.	.	.	.	L	306	ENSP00000425026:P306L	ENSP00000425026:P306L	P	+	2	0	PRR5-ARHGAP8	43623483	0.000000	0.05858	0.984000	0.44739	0.498000	0.33706	-3.101000	0.00604	-0.690000	0.05142	-1.520000	0.00934	CCG		0.617	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		66	97	0	0	0	1	0	66	97				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	42	0	0	0	1	0	35	42				
ZFP36L2	678	broad.mit.edu	37	2	43452123	43452123	+	Missense_Mutation	SNP	G	G	A			TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr2:43452123G>A	ENST00000282388.3	-	2	1113	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	274					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCGACTCGAGGCCGCCCGGG	0.731																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(820-822)Ctc>Ttc		ZFP36 ring finger protein-like 2							13.0	23.0	20.0					2																	43452123		2167	4224	6391	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452123G>A	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.820C>T	2.37:g.43452123G>A	ENSP00000282388:p.Leu274Phe					THADA_ENST00000330266.7_Intron	p.L274F	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	1113	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	274					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.820C>T	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921535	0.33908	.	.	ENSG00000152518	ENST00000282388	T	0.53423	0.62	3.91	2.04	0.26737	.	0.121256	0.32819	N	0.005613	T	0.42154	0.1190	L	0.27053	0.805	0.80722	D	1	D	0.54207	0.965	P	0.54100	0.742	T	0.18209	-1.0344	10	0.46703	T	0.11	-13.2704	7.2838	0.26326	0.094:0.0:0.7383:0.1677	.	274	P47974	TISD_HUMAN	F	274	ENSP00000282388:L274F	ENSP00000282388:L274F	L	-	1	0	ZFP36L2	43305627	1.000000	0.71417	0.986000	0.45419	0.036000	0.12997	4.707000	0.61852	0.231000	0.21079	-0.258000	0.10820	CTC		0.731	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		26	17	0	0	0	1	0	26	17				
KIF12	113220	broad.mit.edu	37	9	116854714	116854714	+	Missense_Mutation	SNP	G	G	C	rs147277754	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr9:116854714G>C	ENST00000374118.3	-	15	1538	c.1301C>G	c.(1300-1302)aCt>aGt	p.T434S	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	567					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCGGGTCTGAGTCCAGTCACT	0.617													G|||	6	0.00119808	0.0015	0.0	5008	,	,		15604	0.0		0.004	False		,,,				2504	0.0					ENST00000374118.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1300-1302)aCt>aGt		kinesin family member 12		G	SER/THR	2,4404	4.2+/-10.8	0,2,2201	61.0	59.0	59.0		1301	-2.2	0.3	9	dbSNP_134	59	15,8585	11.2+/-40.8	0,15,4285	yes	missense	KIF12	NM_138424.1	58	0,17,6486	CC,CG,GG		0.1744,0.0454,0.1307	benign	434/514	116854714	17,12989	2203	4300	6503	SO:0001583	missense	113220				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:116854714G>C	BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1301C>G	9.37:g.116854714G>C	ENSP00000363232:p.Thr434Ser						p.T434S	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN			15	1538	-			567					Q5TBE0	Missense_Mutation	SNP	ENST00000374118.3	37	c.1301C>G	CCDS6801.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	0	0.0	4	0.005277044854881266	G	10.27	1.303703	0.23736	4.54E-4	0.001744	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.74209	-0.82	4.68	-2.17	0.07059	.	0.691383	0.13444	N	0.387449	T	0.41190	0.1148	N	0.17082	0.46	0.20563	N	0.999888	B	0.27498	0.18	B	0.30029	0.11	T	0.33548	-0.9864	10	0.13108	T	0.6	.	4.3599	0.11197	0.4616:0.0:0.3832:0.1552	.	567	Q96FN5	KIF12_HUMAN	S	434;567	ENSP00000363232:T434S	ENSP00000259410:T567S	T	-	2	0	KIF12	115894535	0.003000	0.15002	0.291000	0.24904	0.903000	0.53119	0.019000	0.13444	-0.192000	0.10432	0.563000	0.77884	ACT		0.617	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053751.1	NM_138424		5	79	0	0	0	1	0	5	79				
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000504396.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(196-204)del	Mismatch excision repair (MMR)	mutS homolog 3			,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79950742_79950750delCCCCCAGCT	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del					DHFR_ENST00000439211.2_5'UTR	p.PPA66del	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	1	276_284	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	66					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	c.196_204delCCCCCAGCT	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		10	5						10	5	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	6						5	6	---	---	---	---
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-	rs544816257		TCGA-KS-A41J-01A-11D-A23M-08	TCGA-KS-A41J-11A-12D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	60ea1d62-50d2-46ef-9e5a-109f17f8d2c7	49151a1b-2cdc-468e-9059-f5ac5c4330fe	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)gagdel	p.E100del		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783																																						ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(286-288)del		protein phosphatase, Mg2+/Mn2+ dependent, 1E				173,3033		18,137,1448						0.3	0.0			5	371,5843		38,295,2774	no	coding	PPM1E	NM_014906.3		56,432,4222	A1A1,A1R,RR		5.9704,5.3961,5.7749				544,8876				SO:0001651	inframe_deletion	22843				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:56833644_56833646delGAG	AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.286_288delGAG	17.37:g.56833653_56833655delGAG	ENSP00000312411:p.Glu100del						p.E100del	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		1	415_417	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		100			Glu-rich.|Pro-rich.		Q8N8J9|Q96DB8	In_Frame_Del	DEL	ENST00000308249.2	37	c.286_288delGAG	CCDS11613.1																																																																																				0.783	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445458.1	NM_014906		3	5						3	5	---	---	---	---
