#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
CLEC4G	339390	broad.mit.edu	37	19	7794297	7794297	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:7794297G>A	ENST00000328853.5	-	9	905	c.837C>T	c.(835-837)gaC>gaT	p.D279D	CLEC4G_ENST00000598081.1_5'Flank	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	279	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCTTCTCGCTGTCACACGGTG	0.627																																					Esophageal Squamous(146;540 1807 3349 19438 30853)	ENST00000328853.5																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						c.(835-837)gaC>gaT		C-type lectin domain family 4, member G							70.0	57.0	61.0					19																	7794297		2203	4300	6503	SO:0001819	synonymous_variant	339390					integral to membrane	protein binding|sugar binding	g.chr19:7794297G>A	AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566		"""C-type lectin domain containing"""	24591	protein-coding gene	gene with protein product			"""C-type lectin superfamily 4, member G"""			12975309	Standard	NM_198492		Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000328853.5:c.837C>T	19.37:g.7794297G>A							p.D279D	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN			9	905	-			279			C-type lectin.			Silent	SNP	ENST00000328853.5	37	c.837C>T	CCDS12185.1																																																																																				0.627	CLEC4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461989.1	NM_198492		5	26	0	0	0	1	0	5	26				
NSDHL	50814	broad.mit.edu	37	X	152034434	152034434	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:152034434C>T	ENST00000370274.3	+	6	809	c.615C>T	c.(613-615)ggC>ggT	p.G205G	NSDHL_ENST00000440023.1_Silent_p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	205			G -> S (in CHILD). {ECO:0000269|PubMed:10710235}.		cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCATTTTCGGCCCAAGGGACC	0.582																																						ENST00000370274.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15						c.(613-615)ggC>ggT		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						120.0	110.0	114.0					X																	152034434		2203	4300	6503	SO:0001819	synonymous_variant	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152034434C>T	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.615C>T	X.37:g.152034434C>T						NSDHL_ENST00000440023.1_Silent_p.G205G	p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN			6	809	+	Acute lymphoblastic leukemia(192;6.56e-05)		205		G -> S (in CHILD).			D3DWT6|O00344	Silent	SNP	ENST00000370274.3	37	c.615C>T	CCDS14717.1																																																																																				0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		31	60	0	0	0	1	0	31	60				
DMXL1	1657	broad.mit.edu	37	5	118503398	118503398	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:118503398G>T	ENST00000311085.8	+	23	5317	c.5237G>T	c.(5236-5238)cGt>cTt	p.R1746L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1746										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTATTTTACGTAAAAAAGTT	0.348																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(5236-5238)cGt>cTt		Dmx-like 1							63.0	64.0	64.0					5																	118503398		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118503398G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.5237G>T	5.37:g.118503398G>T	ENSP00000309690:p.Arg1746Leu					DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	5317	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1746						Missense_Mutation	SNP	ENST00000311085.8	37	c.5237G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	7.449	0.642329	0.14451	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.43294	0.95;0.95	5.86	1.58	0.23477	.	0.316159	0.39475	N	0.001348	T	0.24314	0.0589	N	0.20685	0.6	0.28412	N	0.918148	B;B	0.28055	0.199;0.149	B;B	0.31946	0.085;0.138	T	0.22906	-1.0203	10	0.16420	T	0.52	-1.4688	8.0923	0.30807	0.5445:0.0:0.4555:0.0	.	1746;1746	F5H269;Q9Y485	.;DMXL1_HUMAN	L	1746	ENSP00000309690:R1746L;ENSP00000439479:R1746L	ENSP00000309690:R1746L	R	+	2	0	DMXL1	118531297	1.000000	0.71417	0.898000	0.35279	0.593000	0.36681	4.033000	0.57282	0.123000	0.18342	-0.813000	0.03139	CGT		0.348	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		22	33	1	0	3.8784e-16	1	3.9996e-16	22	33				
USP47	55031	broad.mit.edu	37	11	11959846	11959846	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:11959846C>T	ENST00000399455.2	+	19	2300	c.2180C>T	c.(2179-2181)tCt>tTt	p.S727F	USP47_ENST00000339865.5_Missense_Mutation_p.S639F|USP47_ENST00000527733.1_Missense_Mutation_p.S707F|USP47_ENST00000539466.1_5'UTR	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	727					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAGGCAGAATCTGTAGCTGCT	0.333																																						ENST00000339865.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(1915-1917)tCt>tTt		ubiquitin specific peptidase 47							163.0	155.0	158.0					11																	11959846		1866	4092	5958	SO:0001583	missense	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11959846C>T	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.2180C>T	11.37:g.11959846C>T	ENSP00000382382:p.Ser727Phe					USP47_ENST00000399455.2_Missense_Mutation_p.S727F|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.S707F	p.S639F	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	17	2679	+			727					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37	c.1916C>T		.	.	.	.	.	.	.	.	.	.	C	18.43	3.623386	0.66901	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04603	3.59;3.59;3.59	5.83	5.83	0.93111	.	0.146064	0.64402	D	0.000007	T	0.07503	0.0189	L	0.36672	1.1	0.80722	D	1	B;P;P	0.41102	0.151;0.62;0.738	B;B;B	0.40101	0.059;0.17;0.319	T	0.12319	-1.0552	10	0.59425	D	0.04	.	19.7169	0.96124	0.0:1.0:0.0:0.0	.	727;707;639	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	F	639;707;727	ENSP00000339957:S639F;ENSP00000433146:S707F;ENSP00000382382:S727F	ENSP00000339957:S639F	S	+	2	0	USP47	11916422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.745000	0.68672	2.763000	0.94921	0.561000	0.74099	TCT		0.333	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	NM_017944		19	36	0	0	0	1	0	19	36				
RHPN1	114822	broad.mit.edu	37	8	144462859	144462859	+	Silent	SNP	G	G	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:144462859G>C	ENST00000289013.6	+	11	1418	c.1317G>C	c.(1315-1317)gtG>gtC	p.V439V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	464	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TTCGGGCTGTGATCTCCCAGA	0.677																																						ENST00000289013.6																			0				endometrium(1)|large_intestine(1)|lung(7)	9						c.(1315-1317)gtG>gtC		rhophilin, Rho GTPase binding protein 1							20.0	25.0	23.0					8																	144462859		2121	4231	6352	SO:0001819	synonymous_variant	114822				signal transduction	intracellular		g.chr8:144462859G>C	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1317G>C	8.37:g.144462859G>C							p.V439V	NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		11	1418	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		464			BRO1.		Q8TAV1|Q96PV9	Silent	SNP	ENST00000289013.6	37	c.1317G>C	CCDS47927.1																																																																																				0.677	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			3	6	0	0	0	1	0	3	6				
ATRX	546	broad.mit.edu	37	X	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGGGATCTTCGAAGATCAGAT	0.393			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1960-1962)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						130.0	138.0	135.0					X																	76938788		2203	4291	6494	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938788G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1960C>T	X.37:g.76938788G>A	ENSP00000362441:p.Arg654*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	p.R654*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2174	-			654					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1960C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.694384	0.98438	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.33	3.4	0.38934	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0998	12.9298	0.58280	0.0:0.0:0.4977:0.5023	.	.	.	.	X	654;616;581	.	ENSP00000362441:R654X	R	-	1	2	ATRX	76825444	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.691000	0.37721	0.971000	0.38288	0.513000	0.50165	CGA		0.393	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		87	156	0	0	0	1	0	87	156				
COL6A3	1293	broad.mit.edu	37	2	238280790	238280790	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:238280790G>A	ENST00000295550.4	-	9	4322	c.3870C>T	c.(3868-3870)tcC>tcT	p.S1290S	COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000353578.4_Silent_p.S1084S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000409809.1_Silent_p.S1084S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCCTTGCTGGAATGGGCGT	0.607																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3868-3870)tcC>tcT		collagen, type VI, alpha 3							63.0	55.0	58.0					2																	238280790		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280790G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3870C>T	2.37:g.238280790G>A						COL6A3_ENST00000353578.4_Silent_p.S1084S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000409809.1_Silent_p.S1084S|COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S	p.S1290S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4322	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1290			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.3870C>T	CCDS33412.1																																																																																				0.607	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		12	30	0	0	0	1	0	12	30				
CHD9	80205	broad.mit.edu	37	16	53190447	53190447	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:53190447C>G	ENST00000398510.3	+	1	533	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CHD9_ENST00000566029.1_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000564845.1_Missense_Mutation_p.S149C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	149					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATTCACACTCTATGCATCAA	0.418																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(445-447)tCt>tGt		chromodomain helicase DNA binding protein 9							103.0	100.0	100.0					16																	53190447		1916	4144	6060	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190447C>G	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.446C>G	16.37:g.53190447C>G	ENSP00000381522:p.Ser149Cys					CHD9_ENST00000564845.1_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000398510.3_Missense_Mutation_p.S149C	p.S149C			Q3L8U1	CHD9_HUMAN			2	655	+		all_cancers(37;0.0212)	149					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.446C>G		.	.	.	.	.	.	.	.	.	.	C	17.60	3.429482	0.62844	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	D;D	0.86694	-2.08;-2.16	5.72	5.72	0.89469	.	0.322330	0.26948	N	0.021690	D	0.90655	0.7069	L	0.44542	1.39	0.42328	D	0.992283	P;B;D;P	0.67145	0.545;0.41;0.996;0.545	B;B;P;B	0.61592	0.421;0.241;0.891;0.421	D	0.90752	0.4658	10	0.56958	D	0.05	-10.112	19.8868	0.96915	0.0:1.0:0.0:0.0	.	149;149;149;149	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	C	149	ENSP00000396345:S149C;ENSP00000381522:S149C	ENSP00000381522:S149C	S	+	2	0	CHD9	51747948	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	3.919000	0.56439	2.689000	0.91719	0.650000	0.86243	TCT		0.418	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		20	78	0	0	0	1	0	20	78				
CRTC2	200186	broad.mit.edu	37	1	153924030	153924030	+	Silent	SNP	G	G	C	rs544579417		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:153924030G>C	ENST00000368633.1	-	11	1237	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	CRTC2_ENST00000368630.3_Silent_p.P50P|CRTC2_ENST00000476883.1_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	370	Ser-rich.				gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCAGAGAGGGGTGGCTGT	0.652													G|||	1	0.000199681	0.0	0.0	5008	,	,		14922	0.0		0.0	False		,,,				2504	0.001					ENST00000368633.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27						c.(1108-1110)ccC>ccG		CREB regulated transcription coactivator 2							62.0	67.0	65.0					1																	153924030		2203	4300	6503	SO:0001819	synonymous_variant	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153924030G>C	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1110C>G	1.37:g.153924030G>C						CRTC2_ENST00000368630.3_Silent_p.P50P	p.P370P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	1237	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		370			Ser-rich.		Q6UUV8|Q7Z3X7|Q8N332	Silent	SNP	ENST00000368633.1	37	c.1110C>G	CCDS30875.1																																																																																				0.652	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		12	45	0	0	0	1	0	12	45				
COL5A3	50509	broad.mit.edu	37	19	10079133	10079133	+	Silent	SNP	C	C	T	rs537422545		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:10079133C>T	ENST00000264828.3	-	59	4327	c.4242G>A	c.(4240-4242)ccG>ccA	p.P1414P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGCTTCTCCCGGGGGGCCAA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17135	0.0		0.001	False		,,,				2504	0.0					ENST00000264828.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(4240-4242)ccG>ccA		collagen, type V, alpha 3							90.0	101.0	97.0					19																	10079133		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10079133C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4242G>A	19.37:g.10079133C>T							p.P1414P	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		59	4327	-			1414			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.4242G>A	CCDS12222.1																																																																																				0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		19	90	0	0	0	1	0	19	90				
GJB4	127534	broad.mit.edu	37	1	35227307	35227307	+	Missense_Mutation	SNP	G	G	A	rs370286559		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:35227307G>A	ENST00000339480.1	+	2	822	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	151					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATCTTCCACCGCCTCTACAAG	0.597																																						ENST00000339480.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16						c.(451-453)cGc>cAc		gap junction protein, beta 4, 30.3kDa							59.0	50.0	53.0					1																	35227307		2203	4300	6503	SO:0001583	missense	127534				cell communication	connexon complex|integral to membrane	gap junction channel activity	g.chr1:35227307G>A		CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"""Ion channels / Gap junction proteins (connexins)"""	4286	protein-coding gene	gene with protein product	"""connexin 30.3"""	605425	"""gap junction protein, beta 4 (connexin 30.3)"", ""gap junction protein, beta 4"""				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.452G>A	1.37:g.35227307G>A	ENSP00000345868:p.Arg151His					RP1-34M23.5_ENST00000542839.1_RNA	p.R151H	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN			2	822	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	151					B3KQ82	Missense_Mutation	SNP	ENST00000339480.1	37	c.452G>A	CCDS383.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360222	0.41801	.	.	ENSG00000189433	ENST00000339480	D	0.95205	-3.64	5.73	1.79	0.24919	Gap junction protein, cysteine-rich domain (1);	0.176980	0.50627	D	0.000107	D	0.86477	0.5942	N	0.17800	0.525	0.19775	N	0.99995	B	0.14012	0.009	B	0.13407	0.009	T	0.73886	-0.3841	10	0.30854	T	0.27	.	6.4569	0.21934	0.2628:0.0:0.6188:0.1184	.	151	Q9NTQ9	CXB4_HUMAN	H	151	ENSP00000345868:R151H	ENSP00000345868:R151H	R	+	2	0	GJB4	34999894	0.002000	0.14202	0.957000	0.39632	0.977000	0.68977	0.195000	0.17155	0.090000	0.17273	-0.121000	0.15023	CGC		0.597	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011560.1	NM_153212		24	34	0	0	0	1	0	24	34				
UBE2Z	65264	broad.mit.edu	37	17	47000214	47000214	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:47000214T>C	ENST00000360943.5	+	6	944	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	270					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)										TCCAGAGGGGTGATGGAGAAG	0.473																																						ENST00000360943.5																			0											c.(808-810)gTg>gCg		ubiquitin-conjugating enzyme E2Z							95.0	82.0	86.0					17																	47000214		2203	4300	6503	SO:0001583	missense	65264				apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity	g.chr17:47000214T>C	BC015890	CCDS11540.2	17q21.32	2010-01-14	2007-07-18		ENSG00000159202	ENSG00000159202		"""Ubiquitin-conjugating enzymes E2"""	25847	protein-coding gene	gene with protein product	"""UBA6-specific enzyme E2"""	611362				17597759	Standard	NM_023079		Approved	FLJ13855, USE1	uc002ioi.3	Q9H832	OTTHUMG00000150521	ENST00000360943.5:c.809T>C	17.37:g.47000214T>C	ENSP00000354201:p.Val270Ala						p.V270A	NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN			6	944	+			270					A6N8M6|A6NC60|Q7L354|Q8TCM4|Q9H893	Missense_Mutation	SNP	ENST00000360943.5	37	c.809T>C	CCDS11540.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093476	0.76756	.	.	ENSG00000159202	ENST00000360943;ENST00000405215	T	0.77620	-1.11	5.05	5.05	0.67936	Ubiquitin-conjugating enzyme/RWD-like (1);	0.067100	0.64402	D	0.000012	D	0.84795	0.5551	M	0.74258	2.255	0.58432	D	0.999999	D	0.55172	0.97	P	0.57960	0.83	D	0.86732	0.1949	10	0.72032	D	0.01	-12.4441	13.1862	0.59682	0.0:0.0:0.0:1.0	.	270	Q9H832	UBE2Z_HUMAN	A	270;203	ENSP00000354201:V270A	ENSP00000354201:V270A	V	+	2	0	UBE2Z	44355213	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	7.525000	0.81892	2.127000	0.65507	0.443000	0.29094	GTG		0.473	UBE2Z-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318724.2	NM_023079		10	32	0	0	0	1	0	10	32				
DNMT3B	1789	broad.mit.edu	37	20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:31387129C>T	ENST00000328111.2	+	16	2075	c.1754C>T	c.(1753-1755)gCg>gTg	p.A585V	DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000375623.4_3'UTR	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	585	S-adenosyl-L-methionine binding. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		A -> V (in ICF1). {ECO:0000269|PubMed:11102980, ECO:0000269|PubMed:15580563}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGCATCGCGACAGGTGAG	0.577																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	GRCh37	CM002946	DNMT3B	M		c.(1753-1755)gCg>gTg		DNA (cytosine-5-)-methyltransferase 3 beta							68.0	58.0	61.0					20																	31387129		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31387129C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1754C>T	20.37:g.31387129C>T	ENSP00000328547:p.Ala585Val					DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V	p.A585V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			16	2075	+			585		A -> V (in ICF).			A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.1754C>T	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591938	0.86953	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	D;D;D;D;D;T;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;0.96;-4.05	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.999;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D	0.77557	0.969;0.99;0.981;0.959;0.973;0.959;0.961	D	0.98635	1.0673	10	0.87932	D	0	-21.1672	19.412	0.94677	0.0:1.0:0.0:0.0	.	489;523;284;577;565;565;585	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	V	585;565;565;523;489;565;577	ENSP00000328547:A585V;ENSP00000313397:A565V;ENSP00000337764:A565V;ENSP00000403169:A523V;ENSP00000412305:A489V;ENSP00000345105:A565V;ENSP00000201963:A577V	ENSP00000201963:A577V	A	+	2	0	DNMT3B	30850790	1.000000	0.71417	0.943000	0.38184	0.166000	0.22503	7.758000	0.85224	2.828000	0.97474	0.655000	0.94253	GCG		0.577	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		8	8	0	0	0	1	0	8	8				
COX10	1352	broad.mit.edu	37	17	13980254	13980254	+	Missense_Mutation	SNP	T	T	C	rs201424119		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:13980254T>C	ENST00000261643.3	+	3	457	c.380T>C	c.(379-381)aTt>aCt	p.I127T	COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	127					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GACTCAGTAATTGAAGACTCA	0.423													T|||	1	0.000199681	0.0	0.0014	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.0					ENST00000261643.3																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(379-381)aTt>aCt		cytochrome c oxidase assembly homolog 10 (yeast)							85.0	85.0	85.0					17																	13980254		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:13980254T>C	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.380T>C	17.37:g.13980254T>C	ENSP00000261643:p.Ile127Thr					COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000536205.1_5'UTR|COX10_ENST00000537334.1_Intron	p.I127T	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	3	457	+		all_lung(20;0.06)|Lung SC(565;0.168)	127					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.380T>C	CCDS11166.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	6.194	0.403995	0.11754	.	.	ENSG00000006695	ENST00000261643	T	0.63417	-0.04	4.82	-0.517	0.11947	.	1.310690	0.05007	N	0.470174	T	0.41003	0.1140	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11179	-1.0598	10	0.08837	T	0.75	-18.6931	2.0193	0.03505	0.1406:0.3694:0.1451:0.3449	.	127	Q12887	COX10_HUMAN	T	127	ENSP00000261643:I127T	ENSP00000261643:I127T	I	+	2	0	COX10	13920979	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.413000	0.07123	-0.207000	0.10187	0.533000	0.62120	ATT		0.423	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		15	64	0	0	0	1	0	15	64				
INO80	54617	broad.mit.edu	37	15	41308307	41308307	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:41308307G>A	ENST00000361937.3	-	27	3805	c.3381C>T	c.(3379-3381)acC>acT	p.T1127T	RP11-540O11.4_ENST00000558967.1_RNA|INO80_ENST00000401393.3_Silent_p.T1127T|RP11-540O11.7_ENST00000558101.1_RNA			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1127	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTATCATCCTGGTCATCTGGG	0.473																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(3379-3381)acC>acT		INO80 complex subunit							95.0	80.0	85.0					15																	41308307		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41308307G>A	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3381C>T	15.37:g.41308307G>A						INO80_ENST00000401393.3_Silent_p.T1127T	p.T1127T			Q9ULG1	INO80_HUMAN			27	3805	-			1127			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3381C>T	CCDS10071.1																																																																																				0.473	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		21	36	0	0	0	1	0	21	36				
MUC5B	727897	broad.mit.edu	37	11	1267980	1267980	+	Silent	SNP	C	C	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:1267980C>A	ENST00000529681.1	+	31	9928	c.9870C>A	c.(9868-9870)acC>acA	p.T3290T	MUC5B_ENST00000447027.1_Silent_p.T3293T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3290	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGGGCCACCGGCTCTGTGG	0.637																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(9877-9879)acC>acA		mucin 5B, oligomeric mucus/gel-forming							66.0	101.0	90.0					11																	1267980		1958	4144	6102	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1267980C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9870C>A	11.37:g.1267980C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3290T	p.T3293T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	9937	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3290	Missing (in Ref. 6; AAB61398).		17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.9879C>A	CCDS44515.2																																																																																				0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	83	1	0	0.150653	1	0.150653	4	83				
PTPN11	5781	broad.mit.edu	37	12	112924324	112924324	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr12:112924324C>T	ENST00000351677.2	+	11	1468	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	428	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCGGACCTGGCCGGACCACGG	0.562			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1270-1272)Ccg>Tcg		protein tyrosine phosphatase, non-receptor type 11							50.0	50.0	50.0					12																	112924324		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112924324C>T	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1270C>T	12.37:g.112924324C>T	ENSP00000340944:p.Pro424Ser					PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			11	1468	+			428			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1270C>T	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	35	5.449052	0.96205	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99586	-6.23;-6.23	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.94847	3.59	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.6833	0.91554	0.0:1.0:0.0:0.0	.	424;424	Q06124-2;Q06124-3	.;.	S	424	ENSP00000376376:P424S;ENSP00000340944:P424S	ENSP00000340944:P424S	P	+	1	0	PTPN11	111408707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.406000	0.81754	0.563000	0.77884	CCG		0.562	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			3	36	0	0	0	1	0	3	36				
NAT16	375607	broad.mit.edu	37	7	100816720	100816720	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:100816720C>T	ENST00000300303.2	-	3	632	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	NAT16_ENST00000455377.1_Missense_Mutation_p.G132R	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	132	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)										ACGCCCTTCCCGCGCTCCCAG	0.711																																						ENST00000300303.2																			0											c.(394-396)Ggg>Agg		N-acetyltransferase 16 (GCN5-related, putative)							22.0	24.0	23.0					7																	100816720		2197	4297	6494	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100816720C>T	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.394G>A	7.37:g.100816720C>T	ENSP00000300303:p.Gly132Arg					NAT16_ENST00000455377.1_Missense_Mutation_p.G132R	p.G132R	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN			3	632	-			132			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.394G>A	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651041	0.67472	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	T;T;T	0.55234	0.53;0.53;0.53	3.11	-1.48	0.08745	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.076596	0.49916	D	0.000123	T	0.53384	0.1793	M	0.79123	2.44	0.80722	D	1	D	0.61080	0.989	P	0.51135	0.66	T	0.53620	-0.8413	10	0.87932	D	0	.	3.4726	0.07573	0.3394:0.4318:0.0:0.2287	.	132	Q8N8M0	CG052_HUMAN	R	132	ENSP00000300303:G132R;ENSP00000395125:G132R;ENSP00000391769:G132R	ENSP00000300303:G132R	G	-	1	0	C7orf52	100603440	0.874000	0.30092	0.114000	0.21550	0.971000	0.66376	0.797000	0.26999	-0.181000	0.10619	0.462000	0.41574	GGG		0.711	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		10	18	0	0	0	1	0	10	18				
HSD17B7	51478	broad.mit.edu	37	1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:162769603G>A	ENST00000254521.3	+	5	573	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000367917.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TCATCTCGCAGTGCAAGGAAA	0.458																																						ENST00000367917.3																			4	Substitution - Missense(4)	p.S173N(4)	kidney(2)|endometrium(2)	endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(517-519)aGt>aAt		hydroxysteroid (17-beta) dehydrogenase 7	NADH(DB00157)						76.0	70.0	72.0					1																	162769603		2203	4300	6503	SO:0001583	missense	51478				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162769603G>A	AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.518G>A	1.37:g.162769603G>A	ENSP00000254521:p.Ser173Asn					HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N|HSD17B7_ENST00000485405.1_3'UTR	p.S173N			P56937	DHB7_HUMAN			5	586	+	all_hematologic(112;0.115)		173					Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.518G>A	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	A	0.896	-0.723912	0.03158	.	.	ENSG00000132196	ENST00000367917;ENST00000254521;ENST00000413934	T;T;T	0.76578	2.88;-1.03;2.88	4.44	3.31	0.37934	NAD(P)-binding domain (1);	0.000000	0.85682	N	0.000000	T	0.27205	0.0667	N	0.04705	-0.18	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.06917	-1.0800	9	0.05833	T	0.94	-30.7352	7.9369	0.29935	0.8252:0.0:0.1748:0.0	.	173	P56937	DHB7_HUMAN	N	173;173;26	ENSP00000356894:S173N;ENSP00000254521:S173N;ENSP00000412146:S26N	ENSP00000254521:S173N	S	+	2	0	HSD17B7	161036227	1.000000	0.71417	0.991000	0.47740	0.478000	0.33099	4.183000	0.58317	0.241000	0.21283	-1.007000	0.02485	AGT		0.458	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371		3	42	0	0	0	1	0	3	42				
SPPL2A	84888	broad.mit.edu	37	15	51028304	51028304	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:51028304T>A	ENST00000261854.5	-	8	1200	c.926A>T	c.(925-927)gAa>gTa	p.E309V		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	309					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATACCTGTCTTCATTTCGAAA	0.353																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(925-927)gAa>gTa		signal peptide peptidase like 2A							128.0	110.0	116.0					15																	51028304		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51028304T>A		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.926A>T	15.37:g.51028304T>A	ENSP00000261854:p.Glu309Val						p.E309V	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	8	1200	-			309					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.926A>T	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.078593	0.76528	.	.	ENSG00000138600	ENST00000261854	T	0.18810	2.19	5.07	5.07	0.68467	.	0.050712	0.85682	D	0.000000	T	0.40595	0.1123	L	0.60957	1.885	0.58432	D	0.999992	D	0.71674	0.998	D	0.68943	0.961	T	0.09907	-1.0653	10	0.30854	T	0.27	-4.5825	15.1256	0.72481	0.0:0.0:0.0:1.0	.	309	Q8TCT8	PSL2_HUMAN	V	309	ENSP00000261854:E309V	ENSP00000261854:E309V	E	-	2	0	AC012100.1	48815596	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.456000	0.73501	2.037000	0.60232	0.460000	0.39030	GAA		0.353	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		15	60	0	0	0	1	0	15	60				
CD97	976	broad.mit.edu	37	19	14492346	14492346	+	Missense_Mutation	SNP	G	G	A	rs375635407		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:14492346G>A	ENST00000242786.5	+	1	91	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.R4H|CD97_ENST00000358600.3_Missense_Mutation_p.R4H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	4					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATGGGAGGCCGCGTCTTTCTC	0.672																																						ENST00000242786.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(10-12)cGc>cAc		CD97 molecule		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	29.0	31.0	30.0		11,11,11	-4.6	0.0	19		30	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CD97	NM_001025160.2,NM_001784.4,NM_078481.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	4/787,4/743,4/836	14492346	1,13005	2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14492346G>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.11G>A	19.37:g.14492346G>A	ENSP00000242786:p.Arg4His					CD97_ENST00000357355.3_Missense_Mutation_p.R4H|CD97_ENST00000358600.3_Missense_Mutation_p.R4H|CD97_ENST00000587728.1_Intron	p.R4H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN			1	91	+			4					A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.11G>A	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	8.729	0.916231	0.17907	0.0	1.16E-4	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600	T;T;T	0.72615	-0.67;-0.6;-0.28	2.28	-4.56	0.03431	.	.	.	.	.	T	0.53094	0.1775	L	0.48642	1.525	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.21655	-1.0239	9	0.35671	T	0.21	.	0.8122	0.01096	0.3165:0.1172:0.1499:0.4164	.	4;4;4	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	H	4	ENSP00000242786:R4H;ENSP00000349918:R4H;ENSP00000351413:R4H	ENSP00000242786:R4H	R	+	2	0	CD97	14353346	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.863000	0.04259	-2.940000	0.00297	-0.234000	0.12200	CGC		0.672	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		3	34	0	0	0	1	0	3	34				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	57	0	0	0	1	0	3	57				
TSPAN7	7102	broad.mit.edu	37	X	38546915	38546915	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:38546915G>A	ENST00000378482.2	+	7	921	c.744G>A	c.(742-744)atG>atA	p.M248I	TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I|TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	248					viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTATGAGATGGTGTAAGGAG	0.498																																						ENST00000378482.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(742-744)atG>atA		tetraspanin 7							124.0	96.0	106.0					X																	38546915		2202	4300	6502	SO:0001583	missense	7102				interspecies interaction between organisms	integral to plasma membrane		g.chrX:38546915G>A	D29808	CCDS14248.1	Xp11.4	2013-02-14	2005-03-21	2005-03-21	ENSG00000156298	ENSG00000156298		"""CD molecules"", ""Tetraspanins"""	11854	protein-coding gene	gene with protein product		300096	"""transmembrane 4 superfamily member 2"", ""mental retardation, X-linked 58"""	MXS1, TM4SF2, MRX58		12070254	Standard	NM_004615		Approved	DXS1692E, TALLA-1, A15, CD231	uc004deg.4	P41732	OTTHUMG00000024090	ENST00000378482.2:c.744G>A	X.37:g.38546915G>A	ENSP00000367743:p.Met248Ile					TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I|TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I	p.M248I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN			7	921	+			248					B2R5W7|D3DWB1|Q8WVG5|Q9UEY9	Missense_Mutation	SNP	ENST00000378482.2	37	c.744G>A	CCDS14248.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307125	0.60305	.	.	ENSG00000250349;ENSG00000156298;ENSG00000156298;ENSG00000156298;ENSG00000156298	ENST00000465127;ENST00000378482;ENST00000422612;ENST00000286824;ENST00000545599	D;T;T;T;T	0.91407	-2.84;1.25;1.28;1.24;1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	L	0.48877	1.53	0.80722	D	1	B;B;B	0.22683	0.017;0.073;0.038	B;B;B	0.22753	0.024;0.041;0.009	D	0.83674	0.0168	9	.	.	.	.	19.1327	0.93414	0.0:0.0:1.0:0.0	.	265;274;248	B4DDG0;B4DEA5;P41732	.;.;TSN7_HUMAN	I	278;248;274;265;222	ENSP00000417050:M278I;ENSP00000367743:M248I;ENSP00000388954:M274I;ENSP00000286824:M265I;ENSP00000441540:M222I	.	M	+	3	0	RP5-972B16.2;TSPAN7	38431859	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.430000	0.97488	2.469000	0.83416	0.600000	0.82982	ATG		0.498	TSPAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356412.1			3	28	0	0	0	1	0	3	28				
EGF	1950	broad.mit.edu	37	4	110895896	110895896	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:110895896C>T	ENST00000265171.5	+	12	2207	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	EGF_ENST00000503392.1_Missense_Mutation_p.R588C|EGF_ENST00000509793.1_Missense_Mutation_p.R546C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AAATGGGAAACGTTCCAAAAT	0.358																																						ENST00000265171.5																			1	Substitution - Missense(1)	p.R588C(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1762-1764)Cgt>Tgt		epidermal growth factor	Sulindac(DB00605)						102.0	96.0	98.0					4																	110895896		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110895896C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1762C>T	4.37:g.110895896C>T	ENSP00000265171:p.Arg588Cys					EGF_ENST00000509793.1_Missense_Mutation_p.R546C|EGF_ENST00000503392.1_Missense_Mutation_p.R588C	p.R588C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	12	2207	+		Hepatocellular(203;0.0893)	588					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1762C>T	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370970	0.24771	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.96073	-3.9;-3.9;-3.9	4.85	2.11	0.27256	Six-bladed beta-propeller, TolB-like (1);	0.543217	0.22515	N	0.059056	D	0.91466	0.7306	N	0.16368	0.405	0.09310	N	1	P;P;P	0.48911	0.917;0.572;0.917	B;B;P	0.51055	0.17;0.085;0.657	D	0.84774	0.0769	10	0.41790	T	0.15	.	7.6796	0.28505	0.0:0.6506:0.0:0.3494	.	588;546;588	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	C	546;588;588	ENSP00000424316:R546C;ENSP00000265171:R588C;ENSP00000421384:R588C	ENSP00000265171:R588C	R	+	1	0	EGF	111115345	0.001000	0.12720	0.080000	0.20451	0.432000	0.31715	0.125000	0.15749	0.177000	0.19895	0.655000	0.94253	CGT		0.358	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			4	60	0	0	0	1	0	4	60				
SLC34A1	6569	broad.mit.edu	37	5	176824066	176824066	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:176824066C>T	ENST00000324417.5	+	12	1498	c.1407C>T	c.(1405-1407)agC>agT	p.S469S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGTCCAGCGCTTTCCAGG	0.627																																						ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1405-1407)agC>agT		solute carrier family 34 (type II sodium/phosphate contransporter), member 1							28.0	27.0	27.0					5																	176824066		2203	4300	6503	SO:0001819	synonymous_variant	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824066C>T	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1407C>T	5.37:g.176824066C>T						SLC34A1_ENST00000513614.1_3'UTR	p.S469S	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1498	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	469					B4DPE3	Silent	SNP	ENST00000324417.5	37	c.1407C>T	CCDS4418.1																																																																																				0.627	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		4	17	0	0	0	1	0	4	17				
PREX2	80243	broad.mit.edu	37	8	68956773	68956773	+	Silent	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:68956773T>C	ENST00000288368.4	+	8	1168	c.891T>C	c.(889-891)cgT>cgC	p.R297R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(889-891)cgT>cgC		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							156.0	146.0	150.0					8																	68956773		2203	4300	6503	SO:0001819	synonymous_variant	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68956773T>C	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.891T>C	8.37:g.68956773T>C						PREX2_ENST00000529398.1_3'UTR	p.R297R	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			8	1168	+			297			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	ENST00000288368.4	37	c.891T>C	CCDS6201.1																																																																																				0.393	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		14	104	0	0	0	1	0	14	104				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	48	0	0	0	1	0	38	48				
TLN1	7094	broad.mit.edu	37	9	35706484	35706484	+	Missense_Mutation	SNP	T	T	C	rs202143177		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:35706484T>C	ENST00000314888.9	-	39	5506	c.5153A>G	c.(5152-5154)aAt>aGt	p.N1718S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1718	Interaction with SYNM.			N -> H (in Ref. 1; AAD13152 and 2; AAF23322). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGCAGCATTGGCCAGCGG	0.592																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(5152-5154)aAt>aGt		talin 1							44.0	44.0	44.0					9																	35706484		2203	4299	6502	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35706484T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5153A>G	9.37:g.35706484T>C	ENSP00000316029:p.Asn1718Ser					TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	p.N1718S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		39	5506	-	all_epithelial(49;0.167)		1718	N -> H (in Ref. 1; AAD13152 and 2; AAF23322).		Interaction with SYNM.		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.5153A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	3.326	-0.137718	0.06711	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.13089	2.62;2.62	5.38	2.4	0.29515	.	0.263374	0.44285	N	0.000478	T	0.04318	0.0119	N	0.04090	-0.28	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.43376	-0.9395	10	0.06236	T	0.91	-0.3225	5.73	0.18034	0.0:0.5234:0.242:0.2346	.	1718	Q9Y490	TLN1_HUMAN	S	1718;1702	ENSP00000316029:N1718S;ENSP00000442981:N1702S	ENSP00000316029:N1718S	N	-	2	0	TLN1	35696484	0.031000	0.19500	0.995000	0.50966	0.982000	0.71751	0.659000	0.24994	0.633000	0.30452	-0.345000	0.07892	AAT		0.592	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		7	26	0	0	0	1	0	7	26				
AKAP4	8852	broad.mit.edu	37	X	49961552	49961552	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:49961552T>C	ENST00000376056.2	-	4	389	c.239A>G	c.(238-240)gAc>gGc	p.D80G	AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAGACTGGTCTTTCTTCTC	0.438																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(238-240)gAc>gGc		A kinase (PRKA) anchor protein 4							242.0	189.0	207.0					X																	49961552		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49961552T>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.239A>G	X.37:g.49961552T>C	ENSP00000365224:p.Asp80Gly					AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G|AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR	p.D80G			Q5JQC9	AKAP4_HUMAN			4	389	-	Ovarian(276;0.236)		89						Missense_Mutation	SNP	ENST00000376056.2	37	c.239A>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.354804	0.41700	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	4.57	4.57	0.56435	.	0.000000	0.41605	D	0.000850	T	0.50854	0.1640	M	0.68317	2.08	0.25243	N	0.989732	D;D	0.67145	0.996;0.996	P;P	0.60473	0.825;0.875	T	0.44574	-0.9319	9	.	.	.	-18.4191	9.6577	0.39936	0.0:0.0:0.0:1.0	.	89;80	Q5JQC9;A6ND82	AKAP4_HUMAN;.	G	80;80;89;80;80;80	ENSP00000365224:D80G;ENSP00000365226:D80G;ENSP00000351327:D89G;ENSP00000365232:D80G;ENSP00000402403:D80G;ENSP00000412279:D80G	.	D	-	2	0	AKAP4	49848292	1.000000	0.71417	0.989000	0.46669	0.801000	0.45260	2.651000	0.46674	1.614000	0.50241	0.417000	0.27973	GAC		0.438	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		13	63	0	0	0	1	0	13	63				
SLC6A1	6529	broad.mit.edu	37	3	11068038	11068038	+	Silent	SNP	G	G	A	rs1139553		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:11068038G>A	ENST00000287766.4	+	10	1492	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SLC6A1_ENST00000536032.1_Silent_p.A179A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	357					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTGATGTGGCGGCCTCAGGTC	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18787	0.0		0.0	False		,,,				2504	0.001					ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.(1069-1071)gcG>gcA		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)						120.0	105.0	110.0					3																	11068038		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11068038G>A		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1071G>A	3.37:g.11068038G>A						SLC6A1_ENST00000536032.1_Silent_p.A179A	p.A357A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	10	1492	+		Ovarian(110;0.0392)	357					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.1071G>A	CCDS2603.1																																																																																				0.577	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		23	23	0	0	0	1	0	23	23				
TMPRSS15	5651	broad.mit.edu	37	21	19666729	19666729	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr21:19666729T>C	ENST00000284885.3	-	21	2377	c.2344A>G	c.(2344-2346)Acc>Gcc	p.T782A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	782						brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTTTGGGGTGATGTCTTGA	0.458																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2344-2346)Acc>Gcc		transmembrane protease, serine 15							105.0	114.0	111.0					21																	19666729		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666729T>C		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2344A>G	21.37:g.19666729T>C	ENSP00000284885:p.Thr782Ala						p.T782A	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2377	-			782					Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2344A>G	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	T	3.747	-0.052480	0.07362	.	.	ENSG00000154646	ENST00000284885	D	0.92805	-3.11	5.79	-0.97	0.10306	Speract/scavenger receptor (1);Peptidase cysteine/serine, trypsin-like (1);Speract/scavenger receptor-related (1);	0.852415	0.10903	N	0.621346	T	0.79149	0.4397	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.64210	-0.6461	9	.	.	.	.	4.942	0.13971	0.0:0.3069:0.2948:0.3983	.	782	P98073	ENTK_HUMAN	A	782	ENSP00000284885:T782A	.	T	-	1	0	TMPRSS15	18588600	0.000000	0.05858	0.000000	0.03702	0.100000	0.18952	-0.154000	0.10130	-0.151000	0.11176	0.523000	0.50628	ACC		0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		28	106	0	0	0	1	0	28	106				
WDR74	54663	broad.mit.edu	37	11	62601766	62601766	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:62601766C>T	ENST00000525239.1	-	9	1294	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'Flank|STX5_ENST00000541317.1_5'Flank|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000377897.4_5'Flank|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K|RP11-727F15.9_ENST00000535867.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	253					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AGGTCAATTTCTGCCAGCTGC	0.567																																						ENST00000525239.1																			0				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						c.(757-759)Gaa>Aaa		WD repeat domain 74							141.0	141.0	141.0					11																	62601766		1972	4167	6139	SO:0001583	missense	54663					nucleolus		g.chr11:62601766C>T		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.757G>A	11.37:g.62601766C>T	ENSP00000432119:p.Glu253Lys					WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K|WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K	p.E253K			Q6RFH5	WDR74_HUMAN			9	1294	-			253					A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	c.757G>A	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482384	0.26598	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	4.12	3.18	0.36537	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.600823	0.17685	N	0.165471	T	0.14787	0.0357	N	0.25647	0.755	0.26644	N	0.972226	B;P;P	0.36282	0.404;0.546;0.488	B;B;B	0.29176	0.063;0.063;0.099	T	0.15150	-1.0447	10	0.06236	T	0.91	-11.7591	8.8925	0.35444	0.2224:0.7776:0.0:0.0	.	196;253;253	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	K	253;253;253;253;196	ENSP00000308931:E253K;ENSP00000435726:E253K;ENSP00000432119:E253K;ENSP00000278856:E253K;ENSP00000432113:E196K	ENSP00000278856:E253K	E	-	1	0	WDR74	62358342	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	3.370000	0.52372	0.888000	0.36160	0.561000	0.74099	GAA		0.567	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		24	131	0	0	0	1	0	24	131				
WNK2	65268	broad.mit.edu	37	9	96055256	96055256	+	Missense_Mutation	SNP	G	G	A	rs572566317		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96055256G>A	ENST00000297954.4	+	23	5620	c.5620G>A	c.(5620-5622)Gtg>Atg	p.V1874M	WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M|WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000356055.3_Missense_Mutation_p.V201M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1874					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGACTTCGTGAAGAAGGC	0.706																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(5620-5622)Gtg>Atg		WNK lysine deficient protein kinase 2							13.0	16.0	15.0					9																	96055256		2199	4289	6488	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96055256G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5620G>A	9.37:g.96055256G>A	ENSP00000297954:p.Val1874Met					WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000356055.3_Missense_Mutation_p.V201M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M	p.V1874M			Q9Y3S1	WNK2_HUMAN			23	5620	+			1874					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.5620G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.812|9.812	1.183476|1.183476	0.21870|0.21870	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	.|T;T;T;T;D	.|0.82803	.|-0.25;-0.23;0.33;0.33;-1.65	5.21|5.21	0.669|0.669	0.17918|0.17918	.|.	.|0.470957	.|0.23413	.|N	.|0.048458	T|T	0.66499|0.66499	0.2795|0.2795	N|N	0.16066|0.16066	0.365|0.365	0.25105|0.25105	N|N	0.990758|0.990758	.|P;D;B;B;P	.|0.54047	.|0.882;0.964;0.147;0.229;0.954	.|B;B;B;B;B	.|0.43889	.|0.346;0.435;0.009;0.031;0.336	T|T	0.61530|0.61530	-0.7044|-0.7044	5|10	.|0.44086	.|T	.|0.13	.|.	6.252|6.252	0.20852|0.20852	0.363:0.1356:0.5014:0.0|0.363:0.1356:0.5014:0.0	.|.	.|1837;1832;1440;1837;1874	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	H|M	1440|1874;1837;1486;1449;201	.|ENSP00000297954:V1874M;ENSP00000378860:V1837M;ENSP00000297876:V1486M;ENSP00000411181:V1449M;ENSP00000348347:V201M	.|ENSP00000297954:V1874M	R|V	+|+	2|1	0|0	WNK2|WNK2	95095077|95095077	0.961000|0.961000	0.32948|0.32948	0.214000|0.214000	0.23707|0.23707	0.065000|0.065000	0.16274|0.16274	2.098000|2.098000	0.41757|0.41757	0.209000|0.209000	0.20645|0.20645	-0.314000|-0.314000	0.08810|0.08810	CGT|GTG		0.706	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	22	0	0	0	1	0	3	22				
PTPDC1	138639	broad.mit.edu	37	9	96859724	96859724	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96859724G>A	ENST00000375360.3	+	7	1054	c.714G>A	c.(712-714)agG>agA	p.R238R	PTPDC1_ENST00000288976.3_Silent_p.R290R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	238					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGTGTAAGGGAATTTACTC	0.443																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(712-714)agG>agA		protein tyrosine phosphatase domain containing 1							99.0	97.0	98.0					9																	96859724		2203	4300	6503	SO:0001819	synonymous_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859724G>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.714G>A	9.37:g.96859724G>A						PTPDC1_ENST00000288976.3_Silent_p.R290R	p.R238R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			7	1054	+			238					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.714G>A	CCDS6707.1																																																																																				0.443	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		30	105	0	0	0	1	0	30	105				
PCDHGA11	56105	broad.mit.edu	37	5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:140802769G>A	ENST00000398587.2	+	1	2008	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V659I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGCCACCGTCACGCTCAC	0.672																																						ENST00000398587.2																			1	Substitution - Missense(1)	p.V659I(1)	large_intestine(1)	breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49						c.(1975-1977)Gtc>Atc									34.0	42.0	40.0					5																	140802769		2202	4297	6499	SO:0001583	missense	0							g.chr5:140802769G>A	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1975G>A	5.37:g.140802769G>A	ENSP00000381589:p.Val659Ile					PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.V659I	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2008	+								B7ZVY8|Q9Y5D8|Q9Y5D9	Missense_Mutation	SNP	ENST00000398587.2	37	c.1975G>A	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	g	15.20	2.763662	0.49574	.	.	ENSG00000253873	ENST00000398587	T	0.52983	0.64	5.33	3.53	0.40419	Cadherin (4);Cadherin-like (1);	0.474182	0.12845	U	0.434472	T	0.53094	0.1775	M	0.69823	2.125	0.80722	D	1	P;P	0.40875	0.731;0.538	P;B	0.45232	0.474;0.12	T	0.54543	-0.8278	10	0.54805	T	0.06	.	10.3526	0.43945	0.2135:0.0:0.7865:0.0	.	659;659	Q9Y5H2;Q9Y5H2-2	PCDGB_HUMAN;.	I	659	ENSP00000381589:V659I	ENSP00000381589:V659I	V	+	1	0	PCDHGA11	140782953	0.483000	0.25956	0.097000	0.21041	0.868000	0.49771	3.305000	0.51873	1.272000	0.44329	0.556000	0.70494	GTC		0.672	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		4	107	0	0	0	1	0	4	107				
MYCBP2	23077	broad.mit.edu	37	13	77844139	77844139	+	Missense_Mutation	SNP	T	T	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr13:77844139T>G	ENST00000544440.2	-	7	1151	c.1134A>C	c.(1132-1134)ttA>ttC	p.L378F	MYCBP2_ENST00000407578.2_Missense_Mutation_p.L416F|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGCATACCCTAACCAAGACT	0.299																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(1246-1248)ttA>ttC		MYC binding protein 2, E3 ubiquitin protein ligase							111.0	125.0	120.0					13																	77844139		2203	4296	6499	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77844139T>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.1134A>C	13.37:g.77844139T>G	ENSP00000444596:p.Leu378Phe					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L378F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F	p.L416F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	7	1514	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	378						Missense_Mutation	SNP	ENST00000544440.2	37	c.1248A>C		.	.	.	.	.	.	.	.	.	.	T	21.1	4.105562	0.77096	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.54675	0.58;0.56;0.58	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000016	T	0.53142	0.1778	M	0.64404	1.975	0.48830	D	0.999712	P	0.48407	0.91	B	0.44315	0.446	T	0.60016	-0.7345	10	0.87932	D	0	.	10.8927	0.47004	0.0:0.0732:0.0:0.9268	.	378	O75592	MYCB2_HUMAN	F	378;416;378	ENSP00000349892:L378F;ENSP00000384288:L416F;ENSP00000444596:L378F	ENSP00000349892:L378F	L	-	3	2	MYCBP2	76742140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.839000	0.55835	2.111000	0.64477	0.460000	0.39030	TTA		0.299	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		9	70	0	0	0	1	0	9	70				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		29	9	0	0	0	1	0	29	9				
H3F3B	3021	broad.mit.edu	37	17	73774698	73774698	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:73774698C>T	ENST00000254810.4	-	4	521	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	130					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCGTATCCGGCGAGCCAA	0.443																																						ENST00000254810.4																			0				large_intestine(1)|lung(4)|ovary(2)|skin(1)	8						c.(388-390)cGg>cAg		H3 histone, family 3B (H3.3B)							122.0	120.0	121.0					17																	73774698		2203	4298	6501	SO:0001583	missense	3021				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	g.chr17:73774698C>T	Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.389G>A	17.37:g.73774698C>T	ENSP00000254810:p.Arg130Gln					H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000593254.1_5'UTR	p.R130Q	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		4	521	-	all_cancers(13;1.5e-07)		130					P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Missense_Mutation	SNP	ENST00000254810.4	37	c.389G>A	CCDS11729.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796841	0.50208	.	.	ENSG00000132475	ENST00000254810	T	0.74842	-0.88	5.31	5.31	0.75309	.	0.000000	0.64402	U	0.000018	D	0.90487	0.7020	H	0.94423	3.535	0.50467	D	0.999873	.	.	.	.	.	.	D	0.92626	0.6112	8	0.87932	D	0	.	19.1734	0.93590	0.0:1.0:0.0:0.0	.	.	.	.	Q	130	ENSP00000254810:R130Q	ENSP00000254810:R130Q	R	-	2	0	H3F3B	71286293	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.489000	0.81451	2.767000	0.95098	0.561000	0.74099	CGG		0.443	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1	NM_005324		4	103	0	0	0	1	0	4	103				
PPL	5493	broad.mit.edu	37	16	4945354	4945354	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:4945354G>A	ENST00000345988.2	-	11	1239	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	384					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTGGCCTCGCTTCTGCAGC	0.647																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(1150-1152)Cga>Tga		periplakin							57.0	54.0	55.0					16																	4945354		2197	4300	6497	SO:0001587	stop_gained	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4945354G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1150C>T	16.37:g.4945354G>A	ENSP00000340510:p.Arg384*					PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	p.R384*	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			11	1239	-			384					O60314|O60454|Q14C98	Nonsense_Mutation	SNP	ENST00000345988.2	37	c.1150C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743586	0.89663	.	.	ENSG00000118898	ENST00000345988	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1365	0.86742	0.0:0.0:1.0:0.0	.	.	.	.	X	384	.	ENSP00000340510:R384X	R	-	1	2	PPL	4885355	1.000000	0.71417	0.992000	0.48379	0.061000	0.15899	6.255000	0.72466	2.373000	0.80994	0.561000	0.74099	CGA		0.647	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		9	41	0	0	0	1	0	9	41				
PLG	5340	broad.mit.edu	37	6	161143583	161143583	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:161143583G>A	ENST00000308192.9	+	10	1303	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	414	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGACCCCAGAAAACTACCC	0.473																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1240-1242)Gaa>Aaa		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						121.0	119.0	120.0					6																	161143583		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161143583G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1240G>A	6.37:g.161143583G>A	ENSP00000308938:p.Glu414Lys						p.E414K	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	10	1303	+			414			Kringle 4.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1240G>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	7.523	0.656992	0.14580	.	.	ENSG00000122194	ENST00000308192	T	0.67698	-0.28	5.18	2.12	0.27331	Kringle (4);Kringle-like fold (1);	0.389924	0.18047	U	0.153411	T	0.41050	0.1142	L	0.49640	1.575	0.09310	N	1	B	0.17465	0.022	B	0.27715	0.082	T	0.45071	-0.9286	10	0.49607	T	0.09	.	8.851	0.35199	0.0:0.26:0.4738:0.2661	.	414	P00747	PLMN_HUMAN	K	414	ENSP00000308938:E414K	ENSP00000308938:E414K	E	+	1	0	PLG	161063573	0.016000	0.18221	0.059000	0.19551	0.205000	0.24178	0.058000	0.14301	0.517000	0.28361	0.467000	0.42956	GAA		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	137	0	0	0	1	0	5	137				
CLEC5A	23601	broad.mit.edu	37	7	141635639	141635639	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:141635639G>A	ENST00000546910.1	-	5	516	c.320C>T	c.(319-321)gCa>gTa	p.A107V	CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	107	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTGACAATTGCCAATGTGGA	0.443																																					GBM(154;1592 2613 3360 42983)	ENST00000546910.1																			0				endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10						c.(319-321)gCa>gTa		C-type lectin domain family 5, member A							168.0	142.0	151.0					7																	141635639		2203	4300	6503	SO:0001583	missense	23601				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	g.chr7:141635639G>A		CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.320C>T	7.37:g.141635639G>A	ENSP00000449999:p.Ala107Val					CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron	p.A107V	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN			5	516	-	Melanoma(164;0.0171)		107			C-type lectin.		Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	c.320C>T	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564600	0.45694	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000438351	T;T;T	0.18174	2.23;2.23;2.23	4.75	4.75	0.60458	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000046	T	0.26629	0.0651	L	0.41079	1.255	0.41749	D	0.989655	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.02244	-1.1189	10	0.02654	T	1	-23.0542	13.4324	0.61064	0.0:0.0:1.0:0.0	.	84;84;107;107	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	V	107;84;84	ENSP00000449999:A107V;ENSP00000446890:A84V;ENSP00000414897:A84V	ENSP00000265306:A107V	A	-	2	0	CLEC5A	141282108	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	3.965000	0.56788	2.618000	0.88619	0.549000	0.68633	GCA		0.443	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252		13	67	0	0	0	1	0	13	67				
PORCN	64840	broad.mit.edu	37	X	48369767	48369767	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:48369767G>T	ENST00000326194.6	+	2	264	c.221G>T	c.(220-222)tGg>tTg	p.W74L	PORCN_ENST00000361988.3_Missense_Mutation_p.W74L|PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L|PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|AF196972.9_ENST00000445586.1_RNA|PORCN_ENST00000367574.4_Missense_Mutation_p.W3L	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	74	Leu-rich.				glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACATGGTTTGGGTCGTGCTG	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367574.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(7-9)tGg>tTg		porcupine homolog (Drosophila)							244.0	178.0	200.0					X																	48369767		2203	4300	6503	SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48369767G>T	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.221G>T	X.37:g.48369767G>T	ENSP00000322304:p.Trp74Leu		OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954	PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000361988.3_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|PORCN_ENST00000326194.6_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L	p.W3L			Q9H237	PORCN_HUMAN			3	513	+			74					B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	c.8G>T	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128774	0.94473	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000489940;ENST00000361988;ENST00000326194;ENST00000355092	D;D;D;D;D;D;D;D	0.97378	-3.35;-4.36;-3.24;-3.34;-2.65;-3.37;-4.36;-3.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	L	0.43923	1.385	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.978;0.986;0.993;0.978;0.978;1.0	P;P;D;P;P;D	0.87578	0.852;0.843;0.968;0.852;0.852;0.998	D	0.95424	0.8510	10	0.17369	T	0.5	-5.2993	13.2839	0.60232	0.0:0.0:1.0:0.0	.	74;74;3;74;74;74	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2;C9JWI5	.;PORCN_HUMAN;.;.;.;.	L	74;74;3;74;74;74;74;74	ENSP00000352946:W74L;ENSP00000446401:W74L;ENSP00000356546:W3L;ENSP00000348233:W74L;ENSP00000419212:W74L;ENSP00000354978:W74L;ENSP00000322304:W74L;ENSP00000347207:W74L	ENSP00000322304:W74L	W	+	2	0	PORCN	48254711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.452000	0.90346	2.198000	0.70561	0.436000	0.28706	TGG		0.567	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		29	122	1	0	4.87955e-14	1	4.95462e-14	29	122				
NWD1	284434	broad.mit.edu	37	19	16905360	16905360	+	Silent	SNP	C	C	T	rs201898485		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:16905360C>T	ENST00000552788.1	+	13	3300	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000524140.2_Silent_p.A1100A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(3298-3300)gcC>gcT		NACHT and WD repeat domain containing 1							83.0	65.0	71.0					19																	16905360		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16905360C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3300C>T	19.37:g.16905360C>T						NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000549814.1_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000339803.6_Silent_p.A965A	p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			15	3718	+			1100					C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3300C>T																																																																																					0.547	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	22	0	0	0	1	0	6	22				
AK9	221264	broad.mit.edu	37	6	109867299	109867299	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:109867299G>A	ENST00000424296.2	-	26	3072	c.2996C>T	c.(2995-2997)cCc>cTc	p.P999L	AK9_ENST00000355283.1_Missense_Mutation_p.P78L|AK9_ENST00000341338.6_Missense_Mutation_p.P78L	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	999	Adenylate kinase 2.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGAGCCCTGGGGGCCGACAAG	0.448																																						ENST00000424296.2																			0											c.(2995-2997)cCc>cTc		adenylate kinase 9							72.0	86.0	81.0					6																	109867299		2197	4299	6496	SO:0001583	missense	221264							g.chr6:109867299G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2996C>T	6.37:g.109867299G>A	ENSP00000410186:p.Pro999Leu					AK9_ENST00000355283.1_Missense_Mutation_p.P78L|AK9_ENST00000341338.6_Missense_Mutation_p.P78L	p.P999L	NM_001145128.2	NP_001138600.2					26	3072	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.2996C>T	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685007	0.68157	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.49720	0.79;0.77;0.77	5.47	5.47	0.80525	ATPase, AAA+ type, core (1);	0.333993	0.31697	N	0.007206	T	0.31295	0.0792	L	0.52266	1.64	0.22954	N	0.99852	P;D	0.53151	0.903;0.958	P;P	0.46685	0.51;0.524	T	0.20638	-1.0269	9	.	.	.	.	9.7568	0.40508	0.0724:0.0:0.7882:0.1394	.	78;999	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	L	999;78;78	ENSP00000410186:P999L;ENSP00000347431:P78L;ENSP00000344637:P78L	.	P	-	2	0	AKD1	109973992	0.975000	0.34042	0.590000	0.28732	0.698000	0.40448	3.607000	0.54102	2.733000	0.93635	0.557000	0.71058	CCC		0.448	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		22	51	0	0	0	1	0	22	51				
CST4	1472	broad.mit.edu	37	20	23667836	23667836	+	Silent	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:23667836G>A	ENST00000217423.3	-	2	301	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	77			T -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCCCCAAAGGTCTGCACAC	0.562																																						ENST00000217423.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16						c.(229-231)acC>acT		cystatin S							209.0	192.0	198.0					20																	23667836		2203	4300	6503	SO:0001819	synonymous_variant	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667836G>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.231C>T	20.37:g.23667836G>A							p.T77T	NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN			2	301	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		77		T -> N (in a breast cancer sample; somatic mutation).			Q9UBI5|Q9UCS9	Silent	SNP	ENST00000217423.3	37	c.231C>T	CCDS13159.1																																																																																				0.562	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		43	145	0	0	0	1	0	43	145				
STOX2	56977	broad.mit.edu	37	4	184930889	184930889	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:184930889G>A	ENST00000308497.4	+	3	2333	c.898G>A	c.(898-900)Gag>Aag	p.E300K	STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	300					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCTGCGAGACGAGGACACGCC	0.512																																						ENST00000308497.4																			0				breast(1)|endometrium(7)|lung(6)	14						c.(898-900)Gag>Aag		storkhead box 2							24.0	24.0	24.0					4																	184930889		1933	4145	6078	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184930889G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.898G>A	4.37:g.184930889G>A	ENSP00000311257:p.Glu300Lys					STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	2333	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	300					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.898G>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.931834	0.92389	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	D;D	0.89810	-1.66;-2.57	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.94627	0.8268	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.94266	0.7506	10	0.87932	D	0	-27.2097	20.6634	0.99662	0.0:0.0:1.0:0.0	.	300	Q9P2F5	STOX2_HUMAN	K	300	ENSP00000311257:E300K;ENSP00000390127:E300K	ENSP00000311257:E300K	E	+	1	0	STOX2	185167883	1.000000	0.71417	0.986000	0.45419	0.787000	0.44495	9.869000	0.99810	2.894000	0.99253	0.655000	0.94253	GAG		0.512	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		4	25	0	0	0	1	0	4	25				
SLITRK2	84631	broad.mit.edu	37	X	144904070	144904070	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:144904070A>G	ENST00000370490.1	+	1	4382	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	43					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGTACTGAATATCAACTG	0.453																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(127-129)Aat>Gat		SLIT and NTRK-like family, member 2							97.0	82.0	87.0					X																	144904070		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144904070A>G	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.127A>G	X.37:g.144904070A>G	ENSP00000359521:p.Asn43Asp					SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D	p.N43D			Q9H156	SLIK2_HUMAN			1	4382	+	Acute lymphoblastic leukemia(192;6.56e-05)		43					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.127A>G	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463241	0.26248	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	4.86	4.86	0.63082	Leucine-rich repeat-containing N-terminal (1);	0.053779	0.64402	U	0.000001	T	0.40145	0.1105	L	0.44542	1.39	0.47698	D	0.999493	P	0.51351	0.944	B	0.42138	0.377	T	0.24728	-1.0152	10	0.36615	T	0.2	-9.558	11.4578	0.50191	1.0:0.0:0.0:0.0	.	43	Q9H156	SLIK2_HUMAN	D	43	ENSP00000334374:N43D;ENSP00000411681:N43D;ENSP00000359521:N43D;ENSP00000397015:N43D;ENSP00000407347:N43D;ENSP00000412010:N43D	ENSP00000334374:N43D	N	+	1	0	SLITRK2	144711762	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.032000	0.70918	1.603000	0.50134	0.430000	0.28490	AAT		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		29	24	0	0	0	1	0	29	24				
PARP3	10039	broad.mit.edu	37	3	51978147	51978147	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:51978147G>A	ENST00000417220.2	+	4	714	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PARP3_ENST00000431474.1_Missense_Mutation_p.E76K|PARP3_ENST00000398755.3_Missense_Mutation_p.E83K|RRP9_ENST00000232888.6_5'Flank			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	76					DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAACATCGAGAACAACAA	0.602																																						ENST00000417220.2																			0				ovary(1)	1						c.(226-228)Gag>Aag		poly (ADP-ribose) polymerase family, member 3							184.0	199.0	194.0					3																	51978147		2092	4223	6315	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51978147G>A	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.226G>A	3.37:g.51978147G>A	ENSP00000395951:p.Glu76Lys					PARP3_ENST00000398755.3_Missense_Mutation_p.E83K|PARP3_ENST00000431474.1_Missense_Mutation_p.E76K	p.E76K			Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	714	+			76					Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.226G>A	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825233	0.32237	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755;ENST00000498510	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.87	3.99	0.46301	WGR domain (4);	0.286349	0.39083	N	0.001464	T	0.09335	0.0230	N	0.11927	0.2	0.18873	N	0.999981	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28138	-1.0053	10	0.27082	T	0.32	-14.0912	10.3054	0.43678	0.166:0.0:0.834:0.0	.	83;76	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	K	76;76;83;76	ENSP00000395951:E76K;ENSP00000401511:E76K;ENSP00000381740:E83K;ENSP00000417625:E76K	ENSP00000381740:E83K	E	+	1	0	PARP3	51953187	0.319000	0.24607	0.078000	0.20375	0.188000	0.23474	2.769000	0.47654	1.033000	0.39918	0.655000	0.94253	GAG		0.602	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		36	119	0	0	0	1	0	36	119				
CLCA4	22802	broad.mit.edu	37	1	87031502	87031502	+	Silent	SNP	C	C	T	rs199899112		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:87031502C>T	ENST00000370563.3	+	6	795	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16264	0.0		0.0	False		,,,				2504	0.0					ENST00000370563.3																			1	Substitution - coding silent(1)	p.N251N(1)	ovary(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(751-753)aaC>aaT		chloride channel accessory 4		C		1,3603		0,1,1801	62.0	55.0	57.0		753	-1.6	0.1	1		57	0,8132		0,0,4066	no	coding-synonymous	CLCA4	NM_012128.3		0,1,5867	TT,TC,CC		0.0,0.0277,0.0085		251/920	87031502	1,11735	1802	4066	5868	SO:0001819	synonymous_variant	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031502C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.753C>T	1.37:g.87031502C>T						CLCA4_ENST00000263723.5_5'UTR	p.N251N	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	795	+		Lung NSC(277;0.238)	251					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Silent	SNP	ENST00000370563.3	37	c.753C>T	CCDS41355.1																																																																																				0.269	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		8	47	0	0	0	1	0	8	47				
DAK	26007	broad.mit.edu	37	11	61110297	61110297	+	Silent	SNP	C	C	T			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:61110297C>T	ENST00000394900.3	+	10	1075	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	282	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCATAGCCGACGCTACCGTCC	0.587																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(844-846)gaC>gaT		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							64.0	62.0	63.0					11																	61110297		2203	4299	6502	SO:0001819	synonymous_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61110297C>T		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.846C>T	11.37:g.61110297C>T							p.D282D	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			10	1075	+			282			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	c.846C>T	CCDS8003.1																																																																																				0.587	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		13	39	0	0	0	1	0	13	39				
NAALADL2	254827	broad.mit.edu	37	3	175042013	175042013	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:175042013A>G	ENST00000454872.1	+	5	1117	c.989A>G	c.(988-990)gAt>gGt	p.D330G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	330						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGTATATCGATCCTTGTGAT	0.418																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(988-990)gAt>gGt		N-acetylated alpha-linked acidic dipeptidase-like 2							234.0	229.0	231.0					3																	175042013		1906	4118	6024	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175042013A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.989A>G	3.37:g.175042013A>G	ENSP00000404705:p.Asp330Gly					NAALADL2_ENST00000473253.1_3'UTR	p.D330G	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	5	1117	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	330					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.989A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.324776	0.81580	.	.	ENSG00000177694	ENST00000454872	T	0.57595	0.39	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.76835	0.4043	M	0.89478	3.035	0.38241	D	0.941339	D	0.89917	1.0	D	0.83275	0.996	D	0.83545	0.0098	10	0.87932	D	0	-23.2991	14.7021	0.69162	1.0:0.0:0.0:0.0	.	330	Q58DX5	NADL2_HUMAN	G	330	ENSP00000404705:D330G	ENSP00000404705:D330G	D	+	2	0	NAALADL2	176524707	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.679000	0.74513	2.208000	0.71279	0.460000	0.39030	GAT		0.418	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		78	69	0	0	0	1	0	78	69				
SESN2	83667	broad.mit.edu	37	1	28599885	28599885	+	Missense_Mutation	SNP	G	G	A	rs371066600		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:28599885G>A	ENST00000253063.3	+	6	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	256					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCTGCCCGCGACGTGGAG	0.652																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(766-768)cGc>cAc		sestrin 2		G	HIS/ARG	0,4406		0,0,2203	22.0	26.0	25.0		767	2.3	0.0	1		25	2,8598	2.2+/-6.3	0,2,4298	no	missense	SESN2	NM_031459.4	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	256/481	28599885	2,13004	2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28599885G>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.767G>A	1.37:g.28599885G>A	ENSP00000253063:p.Arg256His						p.R256H	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	6	1088	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	256					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.767G>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	6.464	0.453792	0.12283	0.0	2.33E-4	ENSG00000130766	ENST00000253063	T	0.22539	1.95	5.23	2.32	0.28847	.	0.436137	0.24810	N	0.035420	T	0.17874	0.0429	N	0.19112	0.55	0.09310	N	1	D	0.54207	0.965	P	0.52710	0.707	T	0.04976	-1.0914	10	0.40728	T	0.16	-8.0054	6.094	0.20010	0.4154:0.0:0.5846:0.0	.	256	P58004	SESN2_HUMAN	H	256	ENSP00000253063:R256H	ENSP00000253063:R256H	R	+	2	0	SESN2	28472472	0.005000	0.15991	0.022000	0.16811	0.135000	0.20990	0.790000	0.26900	0.592000	0.29728	0.491000	0.48974	CGC		0.652	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			4	14	0	0	0	1	0	4	14				
AL133247.2	0	broad.mit.edu	37	2	31754484	31754484	+	RNA	SNP	C	C	G	rs121434253		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:31754484C>G	ENST00000435713.1	+	0	255				SRD5A2_ENST00000405650.1_RNA																							ATTCAATGATCTCACCGAGGA	0.463																																						ENST00000405650.1																			0													steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)	Azelaic Acid(DB00548)|Dutasteride(DB01126)						74.0	73.0	73.0					2																	31754484		1952	4150	6102			6716				androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity	g.chr2:31754484C>G																													2.37:g.31754484C>G						AL133247.2_ENST00000435713.1_RNA				P31213	S5A2_HUMAN			0	756	-	Acute lymphoblastic leukemia(172;0.155)								RNA	SNP	ENST00000435713.1	37																																																																																						0.463	AL133247.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000325125.1			5	29	0	0	0	1	0	5	29				
EHF	26298	broad.mit.edu	37	11	34680178	34680178	+	Missense_Mutation	SNP	G	G	A	rs199838917		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:34680178G>A	ENST00000533754.1	+	8	923	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	EHF_ENST00000257831.3_Missense_Mutation_p.V236I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000450654.2_Missense_Mutation_p.V213I|EHF_ENST00000531794.1_Missense_Mutation_p.V258I					ets homologous factor										NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCTGAGGGCGTCTTCAGGTT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		18815	0.001		0.0	False		,,,				2504	0.0					ENST00000257831.3																		NFIA/EHF(2)	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17						c.(706-708)Gtc>Atc		ets homologous factor							89.0	93.0	92.0					11																	34680178		2202	4298	6500	SO:0001583	missense	26298				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:34680178G>A	AF170583	CCDS7894.1, CCDS55752.1, CCDS55753.1	11p12	2008-07-18				ENSG00000135373			3246	protein-coding gene	gene with protein product	"""epithelium-specific ets factor 3"", ""ESE3 transcription factor"""	605439				10527851	Standard	NM_012153		Approved	ESE3, ESEJ	uc021qfu.1	Q9NZC4		ENST00000533754.1:c.706G>A	11.37:g.34680178G>A	ENSP00000435837:p.Val236Ile					EHF_ENST00000450654.2_Missense_Mutation_p.V213I|EHF_ENST00000531794.1_Missense_Mutation_p.V258I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000533754.1_Missense_Mutation_p.V236I	p.V236I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)		8	827	+		all_hematologic(20;0.117)	236						Missense_Mutation	SNP	ENST00000533754.1	37	c.706G>A	CCDS7894.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	1.858	-0.463381	0.04476	.	.	ENSG00000135373	ENST00000257831;ENST00000450654;ENST00000530286;ENST00000533754;ENST00000531794	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	5.7	0.644	0.17776	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.148016	0.64402	N	0.000011	T	0.06142	0.0159	N	0.13371	0.34	0.80722	D	1	B;B;B	0.18741	0.03;0.0;0.001	B;B;B	0.16289	0.015;0.001;0.004	T	0.39333	-0.9619	10	0.06099	T	0.92	.	10.8075	0.46527	0.6508:0.0:0.3492:0.0	.	258;213;236	E9PSB2;Q9NZC4-2;Q9NZC4	.;.;EHF_HUMAN	I	236;213;236;236;258	ENSP00000257831:V236I;ENSP00000399733:V213I;ENSP00000433508:V236I;ENSP00000435837:V236I;ENSP00000435835:V258I	ENSP00000257831:V236I	V	+	1	0	EHF	34636754	0.988000	0.35896	0.985000	0.45067	0.786000	0.44442	2.240000	0.43088	-0.108000	0.12066	-1.421000	0.01109	GTC		0.488	EHF-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389855.1	NM_012153		17	80	0	0	0	1	0	17	80				
NBPF14	25832	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	6	100	0	0	0	1	0	6	100				
LINC00518	221718	broad.mit.edu	37	6	10430699	10430701	+	lincRNA	DEL	TTT	TTT	-	rs546794876|rs36119340|rs56888621	byFrequency	TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518																		CTCTGACTAGttttttttttttt	0.448														3875	0.773762	0.8094	0.7349	5008	,	,		20167	0.8095		0.6461	False		,,,				2504	0.8476					ENST00000496285.1																			0																																																			0							g.chr6:10430699_10430701delTTT	BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430708_10430710delTTT								NR_027793.1						0	489	-									RNA	DEL	ENST00000496285.1	37																																																																																						0.448	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793		2	4						2	4	---	---	---	---
PACSIN1	29993	broad.mit.edu	37	6	34495256	34495256	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:34495256delA	ENST00000538621.1	+	3	456	c.211delA	c.(211-213)atcfs	p.I71fs	PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs|PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	71	F-BAR domain.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGCCAGCTCATCGAGAAAGG	0.652											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538621.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						c.(211-213)tcfs		protein kinase C and casein kinase substrate in neurons 1							54.0	46.0	49.0					6																	34495256		2198	4293	6491	SO:0001589	frameshift_variant	0				endocytosis		protein kinase activity	g.chr6:34495256delA	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.211delA	6.37:g.34495256delA	ENSP00000439639:p.Ile71fs		OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	848	PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs	p.I71fs	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN			3	456	+			71			FCH.		Q9P2G8	Frame_Shift_Del	DEL	ENST00000538621.1	37	c.211delA	CCDS4793.1																																																																																				0.652	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			2	4						2	4	---	---	---	---
UCK1	83549	broad.mit.edu	37	9	134404363	134404363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:134404363delC	ENST00000372215.4	-	5	664	c.571delG	c.(571-573)gtgfs	p.V191fs	UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs|UCK1_ENST00000372208.3_Intron	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	191					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGGCTTCACGAAGGTGGTG	0.617																																					Melanoma(42;523 1129 28385 43975 48113)	ENST00000372215.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(571-573)tgfs		uridine-cytidine kinase 1							91.0	68.0	76.0					9																	134404363		2203	4300	6503	SO:0001589	frameshift_variant	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134404363delC	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.571delG	9.37:g.134404363delC	ENSP00000361289:p.Val191fs					UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs	p.V191fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	5	664	-			191					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Frame_Shift_Del	DEL	ENST00000372215.4	37	c.571delG	CCDS6944.1																																																																																				0.617	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432		12	30						12	30	---	---	---	---
