#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
SLC26A8	116369	broad.mit.edu	37	6	35980123	35980123	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:35980123C>T	ENST00000490799.1	-	3	568	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTAAGCACGCATCGTAGGAA	0.458																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(214-216)tGc>tAc		solute carrier family 26 (anion exchanger), member 8							158.0	143.0	148.0					6																	35980123		2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980123C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.215G>A	6.37:g.35980123C>T	ENSP00000417638:p.Cys72Tyr					SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y	p.C72Y	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			3	568	-			72						Missense_Mutation	SNP	ENST00000490799.1	37	c.215G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228268	0.58777	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574;ENST00000480663	D;D;D;D	0.94650	-3.13;-3.48;-3.13;-2.61	5.81	4.86	0.63082	.	0.408050	0.24094	N	0.041614	D	0.90147	0.6921	L	0.34521	1.04	0.09310	N	0.999994	D;D	0.63880	0.99;0.993	P;P	0.60541	0.731;0.876	T	0.81395	-0.0952	10	0.12103	T	0.63	.	10.4137	0.44309	0.24:0.76:0.0:0.0	.	72;72	Q96RN1;Q96RN1-2	S26A8_HUMAN;.	Y	72;72;72;158	ENSP00000417638:C72Y;ENSP00000378100:C72Y;ENSP00000347778:C72Y;ENSP00000420488:C158Y	ENSP00000347778:C72Y	C	-	2	0	SLC26A8	36088101	0.972000	0.33761	0.667000	0.29798	0.803000	0.45373	2.388000	0.44398	2.747000	0.94245	0.650000	0.86243	TGC		0.458	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			37	59	0	0	0	1	0	37	59				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	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	32	0	0	0	1	0	3	32				
LOC101927905	101927905	broad.mit.edu	37	12	8386955	8386955	+	lincRNA	SNP	T	T	C	rs75997195	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr12:8386955T>C	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							CTTGTGCTCCTGGCAGGCAGC	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386955T>C																													12.37:g.8386955T>C														0	811	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.612	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			6	114	0	0	0	1	0	6	114				
RAD54B	25788	broad.mit.edu	37	8	95403999	95403999	+	Silent	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	549					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination																														ENST00000336148.5																			1	Substitution - coding silent(1)	p.C549C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1645-1647)tgC>tgT	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)							120.0	126.0	124.0					8																	95403999		2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95403999G>A	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1647C>T	8.37:g.95403999G>A							p.C549C	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		10	1771	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.1647C>T	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		4	201	0	0	0	1	0	4	201				
LMO1	4004	broad.mit.edu	37	11	8252034	8252034	+	Missense_Mutation	SNP	C	C	T	rs536636517		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr11:8252034C>T	ENST00000335790.3	-	2	538	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	LMO1_ENST00000534484.1_Missense_Mutation_p.V4I|LMO1_ENST00000428101.2_Missense_Mutation_p.V14I	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	15					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TTGGGCTGGACGGAGAGCATC	0.592			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							C|||	1	0.000199681	0.0	0.0	5008	,	,		21375	0.0		0.0	False		,,,				2504	0.001					ENST00000335790.3			yes	Dom	yes		11	11p15	4004	"""T, A"""	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	"""T-ALL, neuroblastoma"""		0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5						c.(43-45)Gtc>Atc		LIM domain only 1 (rhombotin 1)							102.0	107.0	105.0					11																	8252034		2197	4296	6493	SO:0001583	missense	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8252034C>T	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.43G>A	11.37:g.8252034C>T	ENSP00000338207:p.Val15Ile					LMO1_ENST00000534484.1_Missense_Mutation_p.V4I|LMO1_ENST00000428101.2_Missense_Mutation_p.V14I	p.V15I	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	2	538	-			15					E9PSF5|Q4VBC5|Q8IXR0	Missense_Mutation	SNP	ENST00000335790.3	37	c.43G>A	CCDS44534.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379608	0.42207	.	.	ENSG00000166407	ENST00000335790;ENST00000428101;ENST00000534484	T;T;T	0.29655	1.56;1.58;1.61	5.36	5.36	0.76844	.	0.140635	0.47852	D	0.000216	T	0.28732	0.0712	L	0.45581	1.43	0.52099	D	0.999943	B;B	0.20988	0.05;0.05	B;B	0.10450	0.005;0.005	T	0.05869	-1.0859	10	0.17832	T	0.49	.	17.275	0.87112	0.0:1.0:0.0:0.0	.	14;15	E9PSF5;P25800	.;RBTN1_HUMAN	I	15;14;4	ENSP00000338207:V15I;ENSP00000404538:V14I;ENSP00000435456:V4I	ENSP00000338207:V15I	V	-	1	0	LMO1	8208610	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.506000	0.81665	2.533000	0.85409	0.655000	0.94253	GTC		0.592	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		16	86	0	0	0	1	0	16	86				
SATL1	340562	broad.mit.edu	37	X	84362997	84362997	+	Silent	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chrX:84362997C>T	ENST00000395409.3	-	1	977	c.417G>A	c.(415-417)agG>agA	p.R139R	SATL1_ENST00000332921.5_Silent_p.R139R|SATL1_ENST00000509231.1_Silent_p.R326R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	139	Gln-rich.						N-acetyltransferase activity (GO:0008080)			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCCTACCTAATT	0.527																																						ENST00000509231.1																			0				NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						c.(976-978)agG>agA		spermidine/spermine N1-acetyl transferase-like 1							208.0	129.0	156.0					X																	84362997		2203	4300	6503	SO:0001819	synonymous_variant	340562						N-acetyltransferase activity	g.chrX:84362997C>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.417G>A	X.37:g.84362997C>T						SATL1_ENST00000395409.3_Silent_p.R139R|SATL1_ENST00000332921.5_Silent_p.R139R	p.R326R			Q86VE3	SATL1_HUMAN			1	1057	-			139			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Silent	SNP	ENST00000395409.3	37	c.978G>A																																																																																					0.527	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		28	7	0	0	0	1	0	28	7				
PUS7	54517	broad.mit.edu	37	7	105148879	105148879	+	Silent	SNP	A	A	G			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:105148879A>G	ENST00000356362.2	-	2	295	c.81T>C	c.(79-81)gtT>gtC	p.V27V	PUS7_ENST00000469408.1_Silent_p.V27V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	27					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTGTCTCTTCAACTGGGACTC	0.473																																					Colon(138;2387 3051 17860)	ENST00000356362.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						c.(79-81)gtT>gtC		pseudouridylate synthase 7 homolog (S. cerevisiae)							205.0	179.0	188.0					7																	105148879		2203	4300	6503	SO:0001819	synonymous_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105148879A>G	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.81T>C	7.37:g.105148879A>G						PUS7_ENST00000469408.1_Silent_p.V27V	p.V27V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN			2	295	-			27					Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	c.81T>C	CCDS34725.1																																																																																				0.473	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		50	51	0	0	0	1	0	50	51				
BRWD1	54014	broad.mit.edu	37	21	40670456	40670456	+	Missense_Mutation	SNP	C	C	T	rs199917402		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:40670456C>T	ENST00000333229.2	-	5	578	c.251G>A	c.(250-252)cGc>cAc	p.R84H	BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000342449.3_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	84					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGACCGATGCGCTGGCAGAT	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		17048	0.0		0.001	False		,,,				2504	0.0				Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(250-252)cGc>cAc		bromodomain and WD repeat domain containing 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	122.0	128.0	126.0		251,251,251	5.6	1.0	21		126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	BRWD1	NM_001007246.2,NM_018963.4,NM_033656.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	84/121,84/2321,84/2270	40670456	1,13005	2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40670456C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.251G>A	21.37:g.40670456C>T	ENSP00000330753:p.Arg84His					BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H|BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000333229.2_Missense_Mutation_p.R84H	p.R84H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			5	329	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	84					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.251G>A	CCDS13662.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	24.1	4.493995	0.84962	0.0	1.16E-4	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800;ENST00000341322	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.55	5.55	0.83447	.	0.079263	0.53938	D	0.000047	T	0.58495	0.2126	L	0.53780	1.695	0.48975	D	0.999737	D;D;P	0.89917	0.999;1.0;0.653	P;D;B	0.83275	0.884;0.996;0.103	T	0.57676	-0.7770	10	0.52906	T	0.07	-4.4169	12.7972	0.57565	0.0:0.925:0.0:0.0749	.	84;84;84	Q6P2D1;Q9NSI6-2;Q9NSI6	.;.;BRWD1_HUMAN	H	84	ENSP00000330753:R84H;ENSP00000344333:R84H;ENSP00000370178:R84H;ENSP00000342106:R84H	ENSP00000330753:R84H	R	-	2	0	BRWD1	39592326	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.726000	0.54977	2.623000	0.88846	0.467000	0.42956	CGC		0.408	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		4	142	0	0	0	1	0	4	142				
SEMA3E	9723	broad.mit.edu	37	7	83029362	83029362	+	Missense_Mutation	SNP	C	C	T	rs190791287		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:83029362C>T	ENST00000307792.3	-	11	1815	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	450	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAAACAAGACGTCATATTGG	0.333													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17751	0.0		0.0	False		,,,				2504	0.0					ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1348-1350)Gtc>Atc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E		C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	183.0	166.0	172.0		1168,1348	5.4	1.0	7		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SEMA3E	NM_001178129.1,NM_012431.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	390/716,450/776	83029362	1,13005	2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029362C>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1348G>A	7.37:g.83029362C>T	ENSP00000303212:p.Val450Ile					SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I	p.V450I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			11	1815	-		Medulloblastoma(109;0.109)	450			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.1348G>A	CCDS34674.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	28.6	4.938346	0.92526	0.0	1.16E-4	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.18502	2.21;2.21	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.062472	0.64402	D	0.000005	T	0.41396	0.1157	M	0.78916	2.43	0.80722	D	1	D	0.65815	0.995	P	0.58077	0.832	T	0.36187	-0.9758	10	0.66056	D	0.02	.	19.1567	0.93514	0.0:1.0:0.0:0.0	.	450	O15041	SEM3E_HUMAN	I	450;390;450	ENSP00000303212:V450I;ENSP00000405052:V390I	ENSP00000303212:V450I	V	-	1	0	SEMA3E	82867298	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	7.792000	0.85828	2.499000	0.84300	0.591000	0.81541	GTC		0.333	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		5	146	0	0	0	1	0	5	146				
ARMC3	219681	broad.mit.edu	37	10	23326258	23326258	+	Silent	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:23326258G>A	ENST00000298032.5	+	19	2553	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	823						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACGGTAGAGCGTGGAATGAAG	0.542																																						ENST00000298032.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2467-2469)gcG>gcA		armadillo repeat containing 3							123.0	116.0	118.0					10																	23326258		2203	4300	6503	SO:0001819	synonymous_variant	219681						binding	g.chr10:23326258G>A	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2469G>A	10.37:g.23326258G>A						ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	p.A823A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN			19	2553	+			823					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	c.2469G>A	CCDS7142.1																																																																																				0.542	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		4	65	0	0	0	1	0	4	65				
GPR111	222611	broad.mit.edu	37	6	47647929	47647929	+	Silent	SNP	T	T	C			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:47647929T>C	ENST00000296862.1	+	5	594	c.594T>C	c.(592-594)atT>atC	p.I198I	GPR111_ENST00000507065.1_Silent_p.I130I|GPR111_ENST00000398742.2_Silent_p.I130I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	198					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTGTGTAATTAGAAACATTC	0.383																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(388-390)atT>atC		G protein-coupled receptor 111							117.0	110.0	112.0					6																	47647929		1909	4121	6030	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47647929T>C	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.594T>C	6.37:g.47647929T>C						GPR111_ENST00000296862.1_Silent_p.I198I|GPR111_ENST00000507065.1_Silent_p.I130I	p.I130I			Q8IZF7	GP111_HUMAN			4	439	+			198					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.390T>C																																																																																					0.383	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		37	51	0	0	0	1	0	37	51				
NOTCH3	4854	broad.mit.edu	37	19	15298084	15298084	+	Missense_Mutation	SNP	G	G	A	rs75068032		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:15298084G>A	ENST00000263388.2	-	11	1747	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	558	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		R -> C (in CADASIL). {ECO:0000269|PubMed:11102981, ECO:0000269|PubMed:11755616, ECO:0000269|PubMed:15364702, ECO:0000269|PubMed:16009764, ECO:0000269|PubMed:9388399}.		forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCACGCAGCGACCATGGTGG	0.652																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93	GRCh37	CM961046	NOTCH3	M	rs75068032	c.(1672-1674)Cgc>Tgc		notch 3							77.0	63.0	68.0					19																	15298084		2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15298084G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1672C>T	19.37:g.15298084G>A	ENSP00000263388:p.Arg558Cys						p.R558C	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		11	1747	-			558		R -> C (in CADASIL).	EGF-like 14; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.1672C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110570	0.77210	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87650	-2.28	4.51	3.38	0.38709	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90126	0.6915	L	0.61036	1.89	0.44852	D	0.997863	D;D	0.67145	0.996;0.99	D;P	0.70716	0.97;0.86	D	0.89234	0.3579	9	0.62326	D	0.03	.	7.0819	0.25235	0.0:0.1585:0.536:0.3056	.	561;558	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	558;560	ENSP00000263388:R558C	ENSP00000263388:R558C	R	-	1	0	NOTCH3	15159084	0.240000	0.23847	1.000000	0.80357	0.901000	0.52897	1.767000	0.38501	2.215000	0.71742	0.655000	0.94253	CGC		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	39	0	0	0	1	0	3	39				
TRPM2	7226	broad.mit.edu	37	21	45861581	45861581	+	Missense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:45861581C>T	ENST00000397928.1	+	32	4838	c.4393C>T	c.(4393-4395)Cac>Tac	p.H1465Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y|TRPM2_ENST00000498430.1_3'UTR|snoZ6_ENST00000583496.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAGAACCTGCACGCCTGCGA	0.662																																						ENST00000397928.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(4393-4395)Cac>Tac		transient receptor potential cation channel, subfamily M, member 2							53.0	43.0	46.0					21																	45861581		2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45861581C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.4393C>T	21.37:g.45861581C>T	ENSP00000381023:p.His1465Tyr					TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y	p.H1465Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN			32	4838	+			1465			Nudix hydrolase.		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.4393C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639126	0.29157	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.01	2.1	0.27182	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.822657	0.10868	N	0.625312	T	0.13756	0.0333	L	0.50333	1.59	0.09310	N	0.999999	P;P;B;B	0.45827	0.867;0.475;0.337;0.337	B;B;B;B	0.41036	0.346;0.099;0.099;0.099	T	0.16453	-1.0402	10	0.72032	D	0.01	-4.1281	6.9448	0.24512	0.0:0.7254:0.1752:0.0995	.	146;1515;1251;1465	B4DVI8;E9PGK7;Q5KTC1;O94759	.;.;.;TRPM2_HUMAN	Y	1465;1465;1411;1515;209	ENSP00000300482:H1465Y;ENSP00000381023:H1465Y;ENSP00000300481:H1411Y;ENSP00000381026:H1515Y	ENSP00000300481:H1411Y	H	+	1	0	TRPM2	44686009	0.008000	0.16893	0.159000	0.22649	0.015000	0.08874	-0.037000	0.12164	0.436000	0.26393	0.655000	0.94253	CAC		0.662	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		3	21	0	0	0	1	0	3	21				
KBTBD8	84541	broad.mit.edu	37	3	67054339	67054339	+	Silent	SNP	A	A	G			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr3:67054339A>G	ENST00000417314.2	+	3	997	c.948A>G	c.(946-948)aaA>aaG	p.K316K	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Silent_p.K290K			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	316						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGTGTTTAAACTATGCAAAC	0.433																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(868-870)aaA>aaG		kelch repeat and BTB (POZ) domain containing 8							139.0	135.0	136.0					3																	67054339		2203	4300	6503	SO:0001819	synonymous_variant	84541							g.chr3:67054339A>G	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.948A>G	3.37:g.67054339A>G						KBTBD8_ENST00000417314.2_Silent_p.K316K|KBTBD8_ENST00000460576.1_Intron	p.K290K	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1001	+		Lung NSC(201;0.0765)	316					B4DTW6|Q96JI5	Silent	SNP	ENST00000417314.2	37	c.870A>G	CCDS2906.2																																																																																				0.433	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		4	165	0	0	0	1	0	4	165				
WDR25	79446	broad.mit.edu	37	14	100934452	100934452	+	Missense_Mutation	SNP	G	G	A	rs528448819		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr14:100934452G>A	ENST00000335290.6	+	3	1143	c.917G>A	c.(916-918)cGc>cAc	p.R306H	WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000542471.2_Missense_Mutation_p.R49H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	306										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGTGGCCGGCGCATCCTCAGT	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		17583	0.001		0.0	False		,,,				2504	0.0					ENST00000335290.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20						c.(916-918)cGc>cAc		WD repeat domain 25							128.0	122.0	124.0					14																	100934452		2203	4300	6503	SO:0001583	missense	79446							g.chr14:100934452G>A	BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.917G>A	14.37:g.100934452G>A	ENSP00000334148:p.Arg306His					WDR25_ENST00000542471.2_Missense_Mutation_p.R49H|WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H	p.R306H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN			3	1143	+		Melanoma(154;0.212)	306					A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	ENST00000335290.6	37	c.917G>A	CCDS32157.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483528	0.44147	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000542471	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	4.99	2.74	0.32292	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.357352	0.23208	N	0.050716	T	0.45276	0.1334	L	0.46741	1.465	0.24909	N	0.992053	B;B	0.22276	0.067;0.027	B;B	0.15052	0.008;0.012	T	0.36672	-0.9738	10	0.44086	T	0.13	-21.2001	7.1209	0.25444	0.3236:0.0:0.6764:0.0	.	49;306	Q64LD2-2;Q64LD2	.;WDR25_HUMAN	H	306;306;306;49	ENSP00000450661:R306H;ENSP00000385540:R306H;ENSP00000334148:R306H;ENSP00000441903:R49H	ENSP00000334148:R306H	R	+	2	0	WDR25	100004205	0.841000	0.29509	0.999000	0.59377	0.969000	0.65631	2.061000	0.41403	1.248000	0.43934	-0.142000	0.14014	CGC		0.637	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515		4	175	0	0	0	1	0	4	175				
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:42791758G>A	ENST00000575354.2	+	5	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q	CIC_ENST00000572681.2_Missense_Mutation_p.R1124Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		2	Substitution - Missense(2)	p.R215Q(2)	central_nervous_system(2)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)cGg>cAg		capicua transcriptional repressor							66.0	65.0	65.0					19																	42791758		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791758G>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.644G>A	19.37:g.42791758G>A	ENSP00000458663:p.Arg215Gln					CIC_ENST00000160740.3_Missense_Mutation_p.R215Q|CIC_ENST00000575354.2_Missense_Mutation_p.R215Q	p.R1124Q			Q96RK0	CIC_HUMAN			6	3439	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3371G>A	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711096	0.68730	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.79913	0.4528	M	0.83692	2.655	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.83501	0.0075	8	0.87932	D	0	-14.3323	14.5138	0.67807	0.0:0.0:1.0:0.0	.	215	Q96RK0	CIC_HUMAN	Q	215	.	ENSP00000160740:R215Q	R	+	2	0	CIC	47483598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.261000	0.95576	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			34	12	0	0	0	1	0	34	12				
LOC101927905	101927905	broad.mit.edu	37	12	8386973	8386973	+	lincRNA	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr12:8386973C>T	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AGCCAGCCTCCGCAGGACCCC	0.592													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386973C>T																													12.37:g.8386973C>T														0	793	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.592	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			4	87	0	0	0	1	0	4	87				
NSFL1C	55968	broad.mit.edu	37	20	1433682	1433682	+	Missense_Mutation	SNP	C	C	T	rs202113163		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:1433682C>T	ENST00000216879.4	-	6	1508	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	214	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCACCCTCTGCGGATAGACTC	0.458																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(640-642)cGc>cAc		NSFL1 (p97) cofactor (p47)		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	181.0	170.0	174.0		647,641,548	5.2	1.0	20		174	7,8593	5.7+/-21.5	0,7,4293	yes	missense,missense,missense	NSFL1C	NM_001206736.1,NM_016143.4,NM_018839.4	29,29,29	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging,probably-damaging,probably-damaging	216/373,214/371,183/340	1433682	7,12999	2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1433682C>T	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.641G>A	20.37:g.1433682C>T	ENSP00000216879:p.Arg214His					NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H|NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000461211.1_5'UTR	p.R214H	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN			6	1508	-			214			SEP.		A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.641G>A	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946615	0.92593	0.0	8.14E-4	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.47869	0.83;0.83;0.84;0.87;0.84	5.21	5.21	0.72293	SEP domain (4);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.76170	2.325	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.95;0.993;0.996	T	0.71663	-0.4525	10	0.72032	D	0.01	-11.5243	17.5459	0.87861	0.0:1.0:0.0:0.0	.	183;103;214	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	H	183;216;214;103;216	ENSP00000338643:R183H;ENSP00000418529:R216H;ENSP00000216879:R214H;ENSP00000371074:R103H;ENSP00000202584:R216H	ENSP00000216879:R214H	R	-	2	0	NSFL1C	1381682	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.787000	0.62432	2.890000	0.99128	0.650000	0.86243	CGC		0.458	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		5	171	0	0	0	1	0	5	171				
ASIP	434	broad.mit.edu	37	20	32856864	32856864	+	Missense_Mutation	SNP	G	G	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:32856864G>T	ENST00000568305.1	+	4	492	c.290G>T	c.(289-291)cGc>cTc	p.R97L	ASIP_ENST00000374954.3_Missense_Mutation_p.R97L|RP4-785G19.5_ENST00000512005.1_RNA			P42127	ASIP_HUMAN	agouti signaling protein	97	Agouti. {ECO:0000255|PROSITE- ProRule:PRU00494}.				adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|generation of precursor metabolites and energy (GO:0006091)|genetic imprinting (GO:0071514)|hormone-mediated signaling pathway (GO:0009755)|melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|regulation of molecular function, epigenetic (GO:0040030)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(2)	3						GTGGCCACCCGCAACAGCTGC	0.701																																						ENST00000568305.1																			0				central_nervous_system(1)|lung(2)	3						c.(289-291)cGc>cTc		agouti signaling protein							7.0	9.0	8.0					20																	32856864		2084	4149	6233	SO:0001583	missense	434				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space		g.chr20:32856864G>T		CCDS13232.1	20q11.2-q12	2010-06-24	2010-06-24		ENSG00000101440	ENSG00000101440			745	protein-coding gene	gene with protein product	"""nonagouti homolog (mouse)"""	600201	"""agouti (mouse)-signaling protein"", ""agouti signaling protein, nonagouti homolog (mouse)"""	AGTIL		7937887, 7757071	Standard	NM_001672		Approved	ASP	uc002xah.1	P42127	OTTHUMG00000032289	ENST00000568305.1:c.290G>T	20.37:g.32856864G>T	ENSP00000454804:p.Arg97Leu					RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.R97L	p.R97L			P42127	ASIP_HUMAN			4	492	+			97			Agouti.		Q3SXL2	Missense_Mutation	SNP	ENST00000568305.1	37	c.290G>T	CCDS13232.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.513816	0.44763	.	.	ENSG00000101440	ENST00000374954	T	0.28454	1.61	4.72	3.77	0.43336	.	0.686407	0.14356	N	0.324763	T	0.43433	0.1247	M	0.81802	2.56	0.34188	D	0.671776	P	0.47409	0.895	P	0.53266	0.722	T	0.52328	-0.8590	10	0.10636	T	0.68	3.8813	8.6501	0.34029	0.1038:0.0:0.8962:0.0	.	97	P42127	ASIP_HUMAN	L	97	ENSP00000364092:R97L	ENSP00000364092:R97L	R	+	2	0	ASIP	32320525	0.987000	0.35691	0.990000	0.47175	0.096000	0.18686	2.086000	0.41643	1.223000	0.43536	-0.350000	0.07774	CGC		0.701	ASIP-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430541.1			3	7	1	0	0.004672	1	0.004672	3	7				
HSD17B8	7923	broad.mit.edu	37	6	33172796	33172796	+	Missense_Mutation	SNP	G	G	A			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:33172796G>A	ENST00000374662.3	+	2	197	c.170G>A	c.(169-171)gGg>gAg	p.G57E	MIR219-1_ENST00000362166.1_RNA|HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	57					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						CTGCTGGGCGGGCCAGGGAGC	0.721																																						ENST00000374662.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						c.(169-171)gGg>gAg		hydroxysteroid (17-beta) dehydrogenase 8	NADH(DB00157)						5.0	7.0	6.0					6																	33172796		1452	2663	4115	SO:0001583	missense	7923				estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr6:33172796G>A	D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.170G>A	6.37:g.33172796G>A	ENSP00000363794:p.Gly57Glu					HSD17B8_ENST00000469186.1_3'UTR	p.G57E	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN			2	197	+			57					A6NLX7|Q5STP7|Q9UIQ1	Missense_Mutation	SNP	ENST00000374662.3	37	c.170G>A	CCDS4769.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.171654	0.38315	.	.	ENSG00000204228	ENST00000374662	T	0.20463	2.07	4.39	3.51	0.40186	NAD(P)-binding domain (1);	0.324362	0.22595	N	0.058022	T	0.02688	0.0081	N	0.12637	0.245	0.09310	N	1	B	0.22909	0.077	B	0.24974	0.057	T	0.44528	-0.9322	10	0.06494	T	0.89	.	8.4723	0.32993	0.1095:0.0:0.8905:0.0	.	57	Q92506	DHB8_HUMAN	E	57	ENSP00000363794:G57E	ENSP00000363794:G57E	G	+	2	0	HSD17B8	33280774	0.000000	0.05858	0.619000	0.29118	0.853000	0.48598	0.645000	0.24782	1.053000	0.40415	0.448000	0.29417	GGG		0.721	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076196.1	NM_014234		3	7	0	0	0	1	0	3	7				
CNOT4	4850	broad.mit.edu	37	7	135073582	135073582	+	Silent	SNP	T	T	C			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:135073582T>C	ENST00000315544.5	-	11	1971	c.1692A>G	c.(1690-1692)ggA>ggG	p.G564G	CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000428680.2_Silent_p.G561G|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	564					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TAGGCTGCTGTCCTTGTTGTA	0.488																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1681-1683)ggA>ggG		CCR4-NOT transcription complex, subunit 4							154.0	148.0	150.0					7																	135073582		1966	4167	6133	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135073582T>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1692A>G	7.37:g.135073582T>C						CNOT4_ENST00000315544.5_Silent_p.G564G|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Intron	p.G561G	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			11	1962	-			564					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000315544.5	37	c.1683A>G	CCDS55166.1																																																																																				0.488	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		21	20	0	0	0	1	0	21	20				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	30	0	0	0	1	0	15	30				
DHTKD1	55526	broad.mit.edu	37	10	12131003	12131003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:12131003C>T	ENST00000263035.4	+	5	798	c.736C>T	c.(736-738)Cga>Tga	p.R246*	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	246					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCGTAAAATGCGAGGCTTAAG	0.458																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(736-738)Cga>Tga		dehydrogenase E1 and transketolase domain containing 1							125.0	114.0	118.0					10																	12131003		2203	4300	6503	SO:0001587	stop_gained	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12131003C>T	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.736C>T	10.37:g.12131003C>T	ENSP00000263035:p.Arg246*					DHTKD1_ENST00000465617.1_Intron	p.R246*	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		5	798	+		Renal(717;0.228)	246					Q68CU5|Q9BUM8|Q9HCE2	Nonsense_Mutation	SNP	ENST00000263035.4	37	c.736C>T	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127789	0.94473	.	.	ENSG00000181192	ENST00000263035;ENST00000437298	.	.	.	5.1	3.18	0.36537	.	0.170219	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-0.0748	11.6501	0.51284	0.1404:0.7247:0.1349:0.0	.	.	.	.	X	246;181	.	ENSP00000263035:R246X	R	+	1	2	DHTKD1	12171009	1.000000	0.71417	0.977000	0.42913	0.615000	0.37417	1.829000	0.39121	0.498000	0.27948	0.563000	0.77884	CGA		0.458	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		4	94	0	0	0	1	0	4	94				
CRIPAK	285464	broad.mit.edu	37	4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA	rs530801181	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)tcafs	p.S211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663														130	0.0259585	0.0091	0.0447	5008	,	,		13632	0.003		0.0586	False		,,,				2504	0.0256					ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(631-633)acafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388930_1388931insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.634_635dupCA	4.37:g.1388933_1388934dupCA	ENSP00000323978:p.Ser211fs						p.T211fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3591_3592	+			211					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.631_632insCA	CCDS3349.1																																																																																				0.663	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	196						7	196	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		11	Substitution - Missense(4)|Deletion - In frame(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Whole gene deletion(1)|Unknown(1)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)	endometrium(7)|lung(2)|large_intestine(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1384-1398)gaa>ga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589623_67589634delATATGATAGATT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1386_1397delATATGATAGATT	5.37:g.67589623_67589634delATATGATAGATT	ENSP00000428056:p.Tyr463_Leu466del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del	p.EYDRL462del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2002_2013	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	462					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1386_1397delATATGATAGATT	CCDS3993.1																																																																																				0.283	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		14	28						14	28	---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	79397261	79397263	+	In_Frame_Del	DEL	GAA	GAA	-	rs199671652|rs373115408|rs572827902	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:79397261_79397263delGAA	ENST00000286628.8	-	1	137_139	c.138_140delTTC	c.(136-141)tcttcc>tcc	p.46_47SS>S	KCNMA1_ENST00000372443.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000404771.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000286627.5_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000406533.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000354353.5_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000481070.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000404857.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000480683.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000372440.1_In_Frame_Del_p.46_47SS>S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	46	Poly-Ser.				blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	agaagaagaggaagaggaggagg	0.616																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(136-141)tcc>tc		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)																																			SO:0001651	inframe_deletion	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:79397261_79397263delGAA	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.138_140delTTC	10.37:g.79397261_79397263delGAA	ENSP00000286628:p.Ser60del					KCNMA1_ENST00000481070.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000480683.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000406533.3_In_Frame_Del_p.SS58del|KCNMA1_ENST00000286628.8_In_Frame_Del_p.SS58del|KCNMA1_ENST00000372443.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000354353.5_In_Frame_Del_p.SS58del|KCNMA1_ENST00000372440.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000404857.1_In_Frame_Del_p.SS58del|KCNMA1_ENST00000404771.3_In_Frame_Del_p.SS58del	p.SS58del	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		1	1090_1092	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		58			Poly-Ser.		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	In_Frame_Del	DEL	ENST00000286628.8	37	c.138_140delTTC																																																																																					0.616	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		5	8						5	8	---	---	---	---
NEK3	4752	broad.mit.edu	37	13	52725327	52725327	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr13:52725327delA	ENST00000400357.2	-	6	1795	c.502delT	c.(502-504)tatfs	p.Y168fs	NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	168	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GGAGGCACATAATAAGGAGTT	0.393																																						ENST00000400357.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18						c.(502-504)atfs		NIMA-related kinase 3							101.0	90.0	93.0					13																	52725327		1872	4115	5987	SO:0001589	frameshift_variant	4752				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:52725327delA	AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.502delT	13.37:g.52725327delA	ENSP00000383210:p.Tyr168fs					NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs|NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs	p.Y168fs			P51956	NEK3_HUMAN		GBM - Glioblastoma multiforme(99;2.81e-08)	6	1795	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)	168			Interaction with VAV2.|Protein kinase.		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Frame_Shift_Del	DEL	ENST00000400357.2	37	c.502delT	CCDS53871.1																																																																																				0.393	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045047.3			2	4						2	4	---	---	---	---
NPIPB11	728888	broad.mit.edu	37	16	29395145	29395147	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr16:29395145_29395147delTAT	ENST00000524087.1	-	8	1180_1182	c.1106_1108delATA	c.(1105-1110)aatatc>atc	p.N369del	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	369	Pro-rich.					integral component of membrane (GO:0016021)											GTTGTCTTGATATTATCATCTGC	0.576																																						ENST00000524087.1																			0											c.(1105-1110)atc>a		nuclear pore complex interacting protein family, member B11																																				SO:0001651	inframe_deletion	728888							g.chr16:29395145_29395147delTAT			16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1106_1108delATA	16.37:g.29395148_29395150delTAT	ENSP00000430853:p.Asn369del					SNX29P2_ENST00000398878.3_lincRNA	p.NI369del							8	1180_1182	-									In_Frame_Del	DEL	ENST00000524087.1	37	c.1106_1108delATA																																																																																					0.576	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000374094.1	XM_002343430		2	4						2	4	---	---	---	---
NOVA2	4858	broad.mit.edu	37	19	46476609	46476610	+	Start_Codon_Ins	INS	-	-	G			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:46476609_46476610insG	ENST00000263257.5	-	0	194_195				NOVA2_ENST00000599462.1_5'Flank	NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2						regulation of RNA metabolic process (GO:0051252)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		TCGGGCTCCATGGGGGGGGCCT	0.762																																						ENST00000263257.5																			0				endometrium(3)|large_intestine(5)|lung(13)	21								neuro-oncological ventral antigen 2																																				SO:0001582	initiator_codon_variant	4858					nucleus	RNA binding	g.chr19:46476609_46476610insG	U70477	CCDS12679.1	19q13.3	2008-07-17				ENSG00000104967			7887	protein-coding gene	gene with protein product	"""neuro-oncological ventral antigen 3"""	601991		NOVA3		9344654, 10368286	Standard	NM_002516		Approved	ANOVA	uc002pdv.2	Q9UNW9		ENST00000263257.5:c.2dupC	19.37:g.46476617_46476617dupG								NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)	0	194_195	-		all_neural(266;0.113)|Ovarian(192;0.127)						O43267|Q9UEA1	Translation_Start_Site	INS	ENST00000263257.5	37		CCDS12679.1																																																																																				0.762	NOVA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437210.2	NM_002516		3	3						3	3	---	---	---	---
MN1	4330	broad.mit.edu	37	22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs202212250|rs530519178	byFrequency	TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1630-1638)cag>ca		meningioma (disrupted in balanced translocation) 1				149,3245		28,93,1576						0.6	1.0		dbSNP_131	5	263,6801		42,179,3311	no	coding	MN1	NM_002430.2		70,272,4887	A1A1,A1R,RR		3.7231,4.3901,3.9396				412,10046				SO:0001651	inframe_deletion	4330						binding	g.chr22:28194895_28194900delTGCTGT	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1632_1637delACAGCA	22.37:g.28194901_28194906delTGCTGT	ENSP00000304956:p.Gln548_Gln549del						p.QQQ547del	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2586_2591	-			547			Poly-Gln.		A9Z1V9	In_Frame_Del	DEL	ENST00000302326.4	37	c.1632_1637delACAGCA	CCDS42998.1																																																																																				0.646	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	6						7	6	---	---	---	---
