#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
MYH13	8735	broad.mit.edu	37	17	10213033	10213033	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:10213033T>C	ENST00000418404.3	-	33	4934	c.4771A>G	c.(4771-4773)Aaa>Gaa	p.K1591E	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.K1591E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1591					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGTTTCTTTTTAGCTGCTCG	0.562																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4771-4773)Aaa>Gaa		myosin, heavy chain 13, skeletal muscle							46.0	48.0	47.0					17																	10213033		2109	4247	6356	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10213033T>C	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4771A>G	17.37:g.10213033T>C	ENSP00000404570:p.Lys1591Glu					MYH13_ENST00000252172.4_Missense_Mutation_p.K1591E|MYH13_ENST00000570743.1_Missense_Mutation_p.K1591E	p.K1591E			Q9UKX3	MYH13_HUMAN			33	4934	-			1591					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4771A>G	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.225123	0.58668	.	.	ENSG00000006788	ENST00000252172	T	0.80824	-1.42	4.18	1.9	0.25705	Myosin tail (1);	.	.	.	.	D	0.86952	0.6057	M	0.90870	3.155	0.33227	D	0.555457	P	0.37731	0.607	P	0.49421	0.61	D	0.87391	0.2363	9	0.87932	D	0	.	6.3714	0.21483	0.1396:0.0782:0.0:0.7821	.	1591	Q9UKX3	MYH13_HUMAN	E	1591	ENSP00000252172:K1591E	ENSP00000252172:K1591E	K	-	1	0	MYH13	10153758	1.000000	0.71417	0.689000	0.30133	0.519000	0.34347	6.056000	0.71111	0.248000	0.21435	0.379000	0.24179	AAA		0.562	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		3	16	0	0	0	1	0	3	16				
SRGAP1	57522	broad.mit.edu	37	12	64437269	64437269	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:64437269G>A	ENST00000355086.3	+	6	1239	c.715G>A	c.(715-717)Gca>Aca	p.A239T	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A199T|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A239T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	239	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAATTAAGGCACGGAACGA	0.348																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(715-717)Gca>Aca		SLIT-ROBO Rho GTPase activating protein 1							107.0	92.0	97.0					12																	64437269		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64437269G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.715G>A	12.37:g.64437269G>A	ENSP00000347198:p.Ala239Thr					SRGAP1_ENST00000543397.1_Missense_Mutation_p.A199T|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A239T|RP11-196H14.2_ENST00000535594.1_RNA	p.A239T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	6	1239	+			239					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.715G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	35	5.594880	0.96602	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.54675	0.56;0.56;2.17	5.56	5.56	0.83823	.	0.000000	0.34750	U	0.003707	T	0.77143	0.4087	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.993;0.993	T	0.78231	-0.2284	9	.	.	.	.	19.9239	0.97097	0.0:0.0:1.0:0.0	.	239;199;239	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	T	239;239;199	ENSP00000347198:A239T;ENSP00000350480:A239T;ENSP00000437948:A199T	.	A	+	1	0	SRGAP1	62723536	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.824000	0.86668	2.797000	0.96272	0.563000	0.77884	GCA		0.348	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			42	9	0	0	0	1	0	42	9				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	83	0	0	0	1	0	3	83				
ZC3H7A	29066	broad.mit.edu	37	16	11857362	11857362	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr16:11857362C>G	ENST00000396516.2	-	15	2171	c.1974G>C	c.(1972-1974)ctG>ctC	p.L658L	ZC3H7A_ENST00000355758.4_Silent_p.L658L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	658						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCAGACTTTCAGTTCCACAA	0.418																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(1972-1974)ctG>ctC		zinc finger CCCH-type containing 7A							192.0	173.0	180.0					16																	11857362		2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11857362C>G	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1974G>C	16.37:g.11857362C>G						ZC3H7A_ENST00000355758.4_Silent_p.L658L	p.L658L			Q8IWR0	Z3H7A_HUMAN			15	2171	-			658					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.1974G>C	CCDS10550.1																																																																																				0.418	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		5	197	0	0	0	1	0	5	197				
FAM46C	54855	broad.mit.edu	37	1	118166247	118166247	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:118166247C>T	ENST00000369448.3	+	2	1004	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	253										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCTTCTTGTGCGGGACTTCAG	0.512			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												ENST00000369448.3				Rec	yes		1	1p12	54855	"""Mis, F, O"""	"""family with sequence similarity 46, member C"""			L			MM		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(757-759)Cgg>Tgg		family with sequence similarity 46, member C							55.0	59.0	58.0					1																	118166247		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166247C>T	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.757C>T	1.37:g.118166247C>T	ENSP00000358458:p.Arg253Trp	Multiple Myeloma(3;1.13e-06)					p.R253W	NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1004	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	253					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.757C>T	CCDS896.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530010	0.64860	.	.	ENSG00000183508	ENST00000369448	T	0.32753	1.44	5.71	4.79	0.61399	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000011	T	0.51770	0.1694	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63391	-0.6648	10	0.87932	D	0	-14.5245	15.3095	0.74019	0.1406:0.8594:0.0:0.0	.	253	Q5VWP2	FA46C_HUMAN	W	253	ENSP00000358458:R253W	ENSP00000358458:R253W	R	+	1	2	FAM46C	117967770	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.675000	0.37555	1.386000	0.46466	0.561000	0.74099	CGG		0.512	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		4	94	0	0	0	1	0	4	94				
SBSN	374897	broad.mit.edu	37	19	36015811	36015811	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:36015811C>T	ENST00000452271.2	-	2	1682	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	SBSN_ENST00000518157.1_Missense_Mutation_p.G209R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	552						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGGAAGATCCGCTTTGATGG	0.612																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1654-1656)Gga>Aga		suprabasin							109.0	100.0	103.0					19																	36015811		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36015811C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1654G>A	19.37:g.36015811C>T	ENSP00000430242:p.Gly552Arg					SBSN_ENST00000518157.1_Missense_Mutation_p.G209R	p.G552R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	1682	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		209					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.1654G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	7.351	0.622927	0.14193	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.51574	0.7;0.8	3.32	1.08	0.20341	.	0.267018	0.19708	U	0.107867	T	0.24699	0.0599	L	0.32530	0.975	0.09310	N	1	B;P	0.36412	0.015;0.552	B;B	0.26693	0.008;0.072	T	0.15407	-1.0438	10	0.13470	T	0.59	.	5.8674	0.18783	0.0:0.742:0.0:0.258	.	209;552	Q6UWP8;E9PBV3	SBSN_HUMAN;.	R	552;209	ENSP00000430242:G552R;ENSP00000428771:G209R	ENSP00000430242:G552R	G	-	1	0	SBSN	40707651	0.774000	0.28592	0.088000	0.20740	0.238000	0.25445	1.227000	0.32576	0.228000	0.21019	0.478000	0.44815	GGA		0.612	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		8	24	0	0	0	1	0	8	24				
NBAS	51594	broad.mit.edu	37	2	15555741	15555741	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:15555741C>G	ENST00000281513.5	-	25	2891	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2866-2868)Gaa>Caa		neuroblastoma amplified sequence							68.0	73.0	72.0					2																	15555741		2202	4300	6502	SO:0001583	missense	51594							g.chr2:15555741C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2866G>C	2.37:g.15555741C>G	ENSP00000281513:p.Glu956Gln					NBAS_ENST00000441750.1_Intron	p.E956Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			25	2891	-			956					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2866G>C	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.543259|4.543259	0.86022|0.86022	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000281513|ENST00000429842	T|.	0.17854|.	2.25|.	6.17|6.17	6.17|6.17	0.99709|0.99709	Secretory pathway Sec39 (1);|.	0.043599|.	0.85682|.	D|.	0.000000|.	T|T	0.72252|0.72252	0.3437|0.3437	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.71184|.	0.972|.	T|T	0.65207|0.65207	-0.6224|-0.6224	10|5	0.87932|.	D|.	0|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	956|.	A2RRP1|.	NBAS_HUMAN|.	Q|T	956|53	ENSP00000281513:E956Q|.	ENSP00000281513:E956Q|.	E|R	-|-	1|2	0|0	NBAS|NBAS	15473192|15473192	1.000000|1.000000	0.71417|0.71417	0.920000|0.920000	0.36463|0.36463	0.905000|0.905000	0.53344|0.53344	5.653000|5.653000	0.67967|0.67967	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.368	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		87	108	0	0	0	1	0	87	108				
ANKHD1	54882	broad.mit.edu	37	5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:139917069C>T	ENST00000360839.2	+	31	7277	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.R2375*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375*	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2375						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(7123-7125)Cga>Tga		ankyrin repeat and KH domain containing 1							98.0	92.0	94.0					5																	139917069		2203	4300	6503	SO:0001587	stop_gained	54882							g.chr5:139917069C>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7123C>T	5.37:g.139917069C>T	ENSP00000354085:p.Arg2375*					ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*|ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375*	p.R2375*	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		31	7247	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	c.7123C>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.365931|7.365931	0.98238|0.98238	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|.	.|.	.|.	6.08|6.08	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.36991|.	0.0987|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35748|.	-0.9776|.	3|.	.|0.02654	.|T	.|1	.|.	14.9548|14.9548	0.71104|0.71104	0.2808:0.7192:0.0:0.0|0.2808:0.7192:0.0:0.0	.|.	.|.	.|.	.|.	L|X	865;766|2375;2375;2392;1048;914;699;2375;403	.|.	.|ENSP00000396882:R403X	P|R	+|+	2|1	0|2	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139897253|139897253	0.993000|0.993000	0.37304|0.37304	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	3.195000|3.195000	0.51013|0.51013	1.523000|1.523000	0.49018|0.49018	0.591000|0.591000	0.81541|0.81541	CCG|CGA		0.552	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		54	7	0	0	0	1	0	54	7				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	93	0	0	0	1	0	3	93				
FLT1	2321	broad.mit.edu	37	13	29008225	29008225	+	Missense_Mutation	SNP	A	A	G	rs373088980		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr13:29008225A>G	ENST00000282397.4	-	5	897	c.646T>C	c.(646-648)Tat>Cat	p.Y216H	FLT1_ENST00000539099.1_Missense_Mutation_p.Y216H|FLT1_ENST00000541932.1_Missense_Mutation_p.Y216H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	216					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGTCTTATACAAATGCCCA	0.388																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(646-648)Tat>Cat		fms-related tyrosine kinase 1	Sunitinib(DB01268)	A	HIS/TYR,HIS/TYR,HIS/TYR,HIS/TYR	2,4404	4.2+/-10.8	0,2,2201	148.0	125.0	133.0		646,646,646,646	5.8	0.0	13		133	0,8600		0,0,4300	no	missense,missense,missense,missense	FLT1	NM_001159920.1,NM_001160030.1,NM_001160031.1,NM_002019.4	83,83,83,83	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign,benign,benign	216/688,216/734,216/542,216/1339	29008225	2,13004	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29008225A>G	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.646T>C	13.37:g.29008225A>G	ENSP00000282397:p.Tyr216His					FLT1_ENST00000541932.1_Missense_Mutation_p.Y216H|FLT1_ENST00000539099.1_Missense_Mutation_p.Y216H	p.Y216H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	5	897	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	216					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.646T>C	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.521324	0.27211	4.54E-4	0.0	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	T;T;T	0.04758	3.56;3.56;3.56	5.78	5.78	0.91487	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.277143	0.34777	N	0.003700	T	0.07638	0.0192	L	0.35414	1.06	0.27626	N	0.948189	B;B;B;B	0.23185	0.046;0.046;0.046;0.081	B;B;B;B	0.40165	0.321;0.321;0.321;0.061	T	0.25467	-1.0131	10	0.42905	T	0.14	.	10.4484	0.44507	0.9279:0.0:0.0721:0.0	.	216;216;216;216	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	H	216	ENSP00000282397:Y216H;ENSP00000437631:Y216H;ENSP00000442630:Y216H	ENSP00000282397:Y216H	Y	-	1	0	FLT1	27906225	0.988000	0.35896	0.013000	0.15412	0.814000	0.46013	4.195000	0.58400	2.214000	0.71695	0.528000	0.53228	TAT		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			3	139	0	0	0	1	0	3	139				
TPBG	7162	broad.mit.edu	37	6	83075656	83075656	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:83075656G>A	ENST00000369750.3	+	2	1595	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_ENST00000535040.1_Silent_p.P326P|TPBG_ENST00000543496.1_Silent_p.P326P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	326	LRRCT.				cell adhesion (GO:0007155)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542																																						ENST00000369750.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						c.(976-978)ccG>ccA		trophoblast glycoprotein							117.0	107.0	110.0					6																	83075656		2203	4300	6503	SO:0001819	synonymous_variant	7162				cell adhesion	integral to plasma membrane		g.chr6:83075656G>A	AJ012159	CCDS4995.1	6q14-q15	2008-07-29			ENSG00000146242	ENSG00000146242			12004	protein-coding gene	gene with protein product		190920				8132670	Standard	NM_006670		Approved	5T4-AG, 5T4	uc003pjo.3	Q13641	OTTHUMG00000015103	ENST00000369750.3:c.978G>A	6.37:g.83075656G>A						TPBG_ENST00000543496.1_Silent_p.P326P|TPBG_ENST00000535040.1_Silent_p.P326P	p.P326P			Q13641	TPBG_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.107)	2	1595	+		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)	326			LRRCT.		A8K555	Silent	SNP	ENST00000369750.3	37	c.978G>A	CCDS4995.1																																																																																				0.542	TPBG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041340.1			47	105	0	0	0	1	0	47	105				
FLG	2312	broad.mit.edu	37	1	152278795	152278795	+	Missense_Mutation	SNP	G	G	A	rs370810821		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:152278795G>A	ENST00000368799.1	-	3	8602	c.8567C>T	c.(8566-8568)tCg>tTg	p.S2856L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2856	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.577									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		31991	0.0		0.0	False		,,,				2504	0.001					ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(8566-8568)tCg>tTg		filaggrin							375.0	578.0	510.0					1																	152278795		2148	4299	6447	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152278795G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8567C>T	1.37:g.152278795G>A	ENSP00000357789:p.Ser2856Leu					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S2856L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8602	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2856			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.8567C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209438	0.22289	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.05925	3.37	3.02	1.04	0.20106	.	.	.	.	.	T	0.03011	0.0089	M	0.76838	2.35	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	T	0.36237	-0.9756	9	0.72032	D	0.01	.	5.7326	0.18049	0.2831:0.0:0.7169:0.0	.	2856	P20930	FILA_HUMAN	L	2856;118	ENSP00000357789:S2856L	ENSP00000357786:S118L	S	-	2	0	FLG	150545419	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	1.332000	0.33805	-0.017000	0.14103	-0.683000	0.03753	TCG		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	1160	0	0	0	1	0	15	1160				
LIPI	149998	broad.mit.edu	37	21	15561431	15561431	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:15561431G>C	ENST00000536861.1	-	2	355	c.356C>G	c.(355-357)aCt>aGt	p.T119S	LIPI_ENST00000344577.2_Missense_Mutation_p.T140S			Q6XZB0	LIPI_HUMAN	lipase, member I	119					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAAAGTTGTAGCACC	0.363																																						ENST00000344577.2																			0				endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54						c.(418-420)aCt>aGt		lipase, member I							42.0	45.0	44.0					21																	15561431		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561431G>C	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.356C>G	21.37:g.15561431G>C	ENSP00000440381:p.Thr119Ser					LIPI_ENST00000536861.1_Missense_Mutation_p.T119S	p.T140S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	444	-			119					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.419C>G		.	.	.	.	.	.	.	.	.	.	G	17.04	3.286434	0.59867	.	.	ENSG00000188992	ENST00000344577;ENST00000536861;ENST00000382981	D;D	0.88431	-2.38;-2.38	5.29	5.29	0.74685	.	0.148899	0.64402	D	0.000015	D	0.91222	0.7234	L	0.39467	1.215	0.27841	N	0.94112	D;D	0.69078	0.997;0.979	D;P	0.70935	0.971;0.835	D	0.83695	0.0179	10	0.15952	T	0.53	.	18.9061	0.92462	0.0:0.0:1.0:0.0	.	119;140	G1JSG6;Q6XZB0-2	.;.	S	140;119;14	ENSP00000343331:T140S;ENSP00000440381:T119S	ENSP00000343331:T140S	T	-	2	0	LIPI	14483302	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	4.386000	0.59620	2.644000	0.89710	0.650000	0.86243	ACT		0.363	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		52	66	0	0	0	1	0	52	66				
SNRPB2	6629	broad.mit.edu	37	20	16712312	16712312	+	Splice_Site	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:16712312G>C	ENST00000246071.6	+	2	181		c.e2-1		SNRPB2_ENST00000377943.5_Splice_Site|SNRPB2_ENST00000478522.1_Splice_Site|RP4-705D16.3_ENST00000425939.1_RNA	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTTATAACAGATTTTTTACT	0.303																																						ENST00000246071.6																			0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.e2-1		small nuclear ribonucleoprotein polypeptide B							42.0	45.0	44.0					20																	16712312		2198	4275	6473	SO:0001630	splice_region_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16712312G>C		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.-35-1G>C	20.37:g.16712312G>C						SNRPB2_ENST00000478522.1_Splice_Site|SNRPB2_ENST00000377943.5_Splice_Site		NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN			2	181	+								B2R7J3|D3DW21|Q9UJD4	Splice_Site	SNP	ENST00000246071.6	37		CCDS13123.1																																																																																				0.303	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	Intron	19	104	0	0	0	1	0	19	104				
TMOD4	29765	broad.mit.edu	37	1	151146889	151146889	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:151146889C>G	ENST00000416280.2	-	3	357	c.258G>C	c.(256-258)gtG>gtC	p.V86V	TMOD4_ENST00000601585.1_5'Flank|VPS72_ENST00000496809.1_5'Flank			Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	0					muscle contraction (GO:0006936)	striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGAAGGGCACCAAGTCAT	0.562																																						ENST00000416280.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7						c.(256-258)gtG>gtC		tropomodulin 4 (muscle)							173.0	164.0	167.0					1																	151146889		2203	4300	6503	SO:0001819	synonymous_variant	29765				muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	g.chr1:151146889C>G	AF177173	CCDS988.1	1q12	2008-05-23			ENSG00000163157	ENSG00000163157			11874	protein-coding gene	gene with protein product	"""actin-capping protein"""	605834				10662549, 10497209	Standard	NM_013353		Approved	Sk-Tmod	uc001exc.4	Q9NZQ9	OTTHUMG00000012350	ENST00000416280.2:c.258G>C	1.37:g.151146889C>G							p.V86V			Q9NZQ9	TMOD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	357	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		138					B7Z6N9|Q5JR83|Q8WVL3|Q9UKH2	Silent	SNP	ENST00000416280.2	37	c.258G>C																																																																																					0.562	TMOD4-201	KNOWN	basic	protein_coding	protein_coding				5	344	0	0	0	1	0	5	344				
TRIM68	55128	broad.mit.edu	37	11	4626616	4626616	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:4626616A>G	ENST00000300747.5	-	2	408	c.119T>C	c.(118-120)cTc>cCc	p.L40P		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	40					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTCCAGAGAGACAGCTGTG	0.572																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(118-120)cTc>cCc		tripartite motif containing 68							74.0	72.0	73.0					11																	4626616		2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4626616A>G	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.119T>C	11.37:g.4626616A>G	ENSP00000300747:p.Leu40Pro						p.L40P	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	2	408	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	40					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.119T>C	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023984	0.54683	.	.	ENSG00000167333	ENST00000300747;ENST00000533021	T;T	0.10288	2.89;2.89	4.7	4.7	0.59300	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.181657	0.26967	N	0.021593	T	0.36853	0.0982	M	0.86420	2.815	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.986	T	0.35500	-0.9786	10	0.87932	D	0	.	12.7371	0.57232	1.0:0.0:0.0:0.0	.	40;40	E9PR29;Q6AZZ1	.;TRI68_HUMAN	P	40	ENSP00000300747:L40P;ENSP00000436112:L40P	ENSP00000300747:L40P	L	-	2	0	TRIM68	4583192	1.000000	0.71417	0.781000	0.31783	0.357000	0.29423	7.962000	0.87912	2.052000	0.61016	0.448000	0.29417	CTC		0.572	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		46	21	0	0	0	1	0	46	21				
TSIX	9383	broad.mit.edu	37	X	73047524	73047524	+	lincRNA	SNP	A	A	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:73047524A>T	ENST00000604411.1	+	0	35485				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GAGAAAGGAGAGGTAGACAGA	0.408																																						ENST00000604411.1																			0																				38.0	34.0	35.0					X																	73047524		876	1986	2862			0							g.chrX:73047524A>T			Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73047524A>T						XIST_ENST00000429829.1_lincRNA		NR_003255.2						0	35485	+									RNA	SNP	ENST00000604411.1	37																																																																																						0.408	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1	NR_003255		9	5	0	0	0	1	0	9	5				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C	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	236	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).|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 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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		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"""		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(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	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126.0	100.0	109.0					17																	7577574		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.chr17:7577574T>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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	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.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C	p.Y236C	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)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		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 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.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		86	10	0	0	0	1	0	86	10				
ELL3	80237	broad.mit.edu	37	15	44068328	44068328	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:44068328C>T	ENST00000319359.3	-	3	831	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	ELL3_ENST00000497465.1_5'Flank|RP11-296A16.1_ENST00000417761.2_3'UTR|SERF2_ENST00000381359.1_5'Flank	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	64					DNA-templated transcription, elongation (GO:0006354)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial to mesenchymal transition (GO:0010717)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	enhancer binding (GO:0035326)			cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGACCAACCAGGGCCTGGG	0.632																																						ENST00000319359.3																			0				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13						c.(190-192)Ggt>Agt		elongation factor RNA polymerase II-like 3							85.0	77.0	80.0					15																	44068328		2198	4298	6496	SO:0001583	missense	80237				positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr15:44068328C>T	AF276512	CCDS10102.1	15q15.1	2008-02-05			ENSG00000128886	ENSG00000128886			23113	protein-coding gene	gene with protein product		609885				10882741	Standard	NM_025165		Approved	FLJ22637	uc001zsw.1	Q9HB65	OTTHUMG00000059936	ENST00000319359.3:c.190G>A	15.37:g.44068328C>T	ENSP00000320346:p.Gly64Ser					RP11-296A16.1_ENST00000417761.2_3'UTR	p.G64S	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	3	831	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	64					B3KQ66|B3KX08|Q6I9Z7|Q9H634	Missense_Mutation	SNP	ENST00000319359.3	37	c.190G>A	CCDS10102.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361793	0.82353	.	.	ENSG00000128886	ENST00000319359;ENST00000433927	T;T	0.29142	1.58;1.58	5.54	3.64	0.41730	.	0.482751	0.19465	N	0.113609	T	0.29588	0.0738	M	0.65320	2	0.32453	N	0.54521	B;P	0.42203	0.445;0.773	B;B	0.41510	0.298;0.359	T	0.37753	-0.9692	10	0.33141	T	0.24	-16.4817	6.9148	0.24354	0.0:0.7302:0.178:0.0919	.	64;18	Q9HB65;B3KQ66	ELL3_HUMAN;.	S	64;94	ENSP00000320346:G64S;ENSP00000404209:G94S	ENSP00000320346:G64S	G	-	1	0	ELL3	41855620	0.991000	0.36638	0.999000	0.59377	0.979000	0.70002	0.970000	0.29383	1.327000	0.45338	0.563000	0.77884	GGT		0.632	ELL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133236.2	NM_025165		31	42	0	0	0	1	0	31	42				
LPO	4025	broad.mit.edu	37	17	56344812	56344812	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56344812G>A	ENST00000262290.4	+	12	2112	c.1796G>A	c.(1795-1797)gGt>gAt	p.G599D	LPO_ENST00000582328.1_Missense_Mutation_p.G516D|LPO_ENST00000543544.1_Missense_Mutation_p.G540D|LPO_ENST00000421678.2_Missense_Mutation_p.G516D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	599					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGTTACTGGGTCTCTACGGG	0.572																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1795-1797)gGt>gAt		lactoperoxidase							87.0	82.0	84.0					17																	56344812		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56344812G>A	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1796G>A	17.37:g.56344812G>A	ENSP00000262290:p.Gly599Asp					LPO_ENST00000543544.1_Missense_Mutation_p.G540D|LPO_ENST00000421678.2_Missense_Mutation_p.G516D|LPO_ENST00000582328.1_Missense_Mutation_p.G516D	p.G599D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			12	2112	+			599					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1796G>A	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.266209	0.01433	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71934	-0.61;-0.61;-0.61	5.11	-1.98	0.07480	.	0.708178	0.14385	N	0.322899	T	0.19287	0.0463	N	0.00088	-2.19	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.40117	-0.9580	10	0.07325	T	0.83	0.6057	1.9911	0.03446	0.2855:0.4019:0.1814:0.1312	.	516;599	E7EMJ3;P22079	.;PERL_HUMAN	D	599;516;540;344	ENSP00000262290:G599D;ENSP00000400245:G516D;ENSP00000445344:G540D	ENSP00000262290:G599D	G	+	2	0	LPO	53699811	0.002000	0.14202	0.020000	0.16555	0.468000	0.32798	0.540000	0.23191	-0.708000	0.05015	0.557000	0.71058	GGT		0.572	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			65	65	0	0	0	1	0	65	65				
TRPV5	56302	broad.mit.edu	37	7	142626123	142626123	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr7:142626123A>G	ENST00000265310.1	-	5	928	c.580T>C	c.(580-582)Tcc>Ccc	p.S194P	TRPV5_ENST00000442623.1_Missense_Mutation_p.S194P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	194					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTACCCAGGGAGTCCTGGGCC	0.612																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(580-582)Tcc>Ccc		transient receptor potential cation channel, subfamily V, member 5							81.0	69.0	73.0					7																	142626123		2203	4300	6503	SO:0001583	missense	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142626123A>G	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.580T>C	7.37:g.142626123A>G	ENSP00000265310:p.Ser194Pro					TRPV5_ENST00000442623.1_Missense_Mutation_p.S194P	p.S194P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN			5	928	-	Melanoma(164;0.059)		194					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	c.580T>C	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250687	0.80135	.	.	ENSG00000127412	ENST00000265310;ENST00000439304;ENST00000442623	T;T;T	0.65178	-0.14;-0.14;-0.14	4.0	2.81	0.32909	Ankyrin repeat-containing domain (4);	0.317821	0.35378	N	0.003247	T	0.68220	0.2977	L	0.45698	1.435	0.53005	D	0.999963	D;D	0.54397	0.966;0.965	D;P	0.63381	0.914;0.716	T	0.68405	-0.5417	10	0.72032	D	0.01	-23.1481	9.9777	0.41795	0.8291:0.1709:0.0:0.0	.	194;194	E9PBZ6;Q9NQA5	.;TRPV5_HUMAN	P	194;188;194	ENSP00000265310:S194P;ENSP00000406361:S188P;ENSP00000406572:S194P	ENSP00000265310:S194P	S	-	1	0	TRPV5	142336245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.265000	0.43311	0.684000	0.31448	0.379000	0.24179	TCC		0.612	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		9	42	0	0	0	1	0	9	42				
MROH2B	133558	broad.mit.edu	37	5	41045922	41045922	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:41045922C>T	ENST00000399564.4	-	18	2212	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	MROH2B_ENST00000506092.2_Missense_Mutation_p.V143M	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	588																	GTCCAGGCCACATCACTGATC	0.433																																						ENST00000399564.4																			0											c.(1762-1764)Gtg>Atg		maestro heat-like repeat family member 2B							210.0	203.0	205.0					5																	41045922		1999	4167	6166	SO:0001583	missense	133558							g.chr5:41045922C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1762G>A	5.37:g.41045922C>T	ENSP00000382476:p.Val588Met					MROH2B_ENST00000506092.2_Missense_Mutation_p.V143M	p.V588M	NM_173489.4	NP_775760.3					18	2212	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1762G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190617	0.09547	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69806	3.15;-0.43	5.51	-7.03	0.01584	Armadillo-type fold (1);	2.335540	0.01686	N	0.026408	T	0.57080	0.2029	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.49818	-0.8899	10	0.48119	T	0.1	.	13.7173	0.62705	0.0:0.6453:0.0:0.3547	.	588	Q7Z745	HTRB2_HUMAN	M	143;293;588	ENSP00000441504:V143M;ENSP00000382476:V588M	ENSP00000296803:V293M	V	-	1	0	HEATR7B2	41081679	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.518000	0.02246	-1.450000	0.01936	-0.982000	0.02568	GTG		0.433	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		35	235	0	0	0	1	0	35	235				
CAPN11	11131	broad.mit.edu	37	6	44143869	44143869	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:44143869C>G	ENST00000398776.1	+	8	934	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CAPN11_ENST00000542245.1_Missense_Mutation_p.S299C	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	299	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGCTTACTCTGTGACTGGC	0.542																																						ENST00000398776.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(895-897)tCt>tGt		calpain 11							76.0	77.0	77.0					6																	44143869		2146	4256	6402	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44143869C>G	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.896C>G	6.37:g.44143869C>G	ENSP00000381758:p.Ser299Cys					CAPN11_ENST00000542245.1_Missense_Mutation_p.S299C	p.S299C	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	934	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		299			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.896C>G	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896776	0.72639	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.91945	-2.94;-2.94	3.56	3.56	0.40772	Peptidase C2, calpain, catalytic domain (3);	0.592600	0.14115	N	0.340418	D	0.97266	0.9106	H	0.97365	3.99	0.40149	D	0.976929	D	0.89917	1.0	D	0.68943	0.961	D	0.98510	1.0618	10	0.87932	D	0	.	15.3933	0.74767	0.0:1.0:0.0:0.0	.	299	Q9UMQ6	CAN11_HUMAN	C	299	ENSP00000381758:S299C;ENSP00000441078:S299C	ENSP00000381758:S299C	S	+	2	0	CAPN11	44251847	1.000000	0.71417	0.890000	0.34922	0.232000	0.25224	7.574000	0.82434	2.317000	0.78254	0.462000	0.41574	TCT		0.542	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			17	31	0	0	0	1	0	17	31				
CDH17	1015	broad.mit.edu	37	8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A	rs199497492		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.R774W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448																																						ENST00000027335.3																			1	Substitution - Missense(1)	p.R774W(1)	large_intestine(1)	NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(2320-2322)Cgg>Tgg		cadherin 17, LI cadherin (liver-intestine)							78.0	73.0	75.0					8																	95142932		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95142932G>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.2320C>T	8.37:g.95142932G>A	ENSP00000027335:p.Arg774Trp					CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.R774W	p.R774W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		17	2444	-	Breast(36;4.65e-06)		774			Cadherin 7.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.2320C>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417426	0.25552	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.58358	0.34;0.34	5.84	2.83	0.33086	Cadherin (1);	0.561125	0.16175	N	0.226091	T	0.46014	0.1371	L	0.56769	1.78	0.27273	N	0.95831	D	0.63046	0.992	B	0.40534	0.332	T	0.37549	-0.9701	10	0.37606	T	0.19	-0.1227	11.2752	0.49163	0.0:0.0:0.5163:0.4836	.	774	Q12864	CAD17_HUMAN	W	774	ENSP00000027335:R774W;ENSP00000401468:R774W	ENSP00000027335:R774W	R	-	1	2	CDH17	95212108	0.965000	0.33210	0.969000	0.41365	0.045000	0.14185	1.376000	0.34306	0.760000	0.33108	-0.282000	0.10007	CGG		0.448	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		30	119	0	0	0	1	0	30	119				
MBD6	114785	broad.mit.edu	37	12	57919602	57919602	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:57919602C>T	ENST00000355673.3	+	6	1207	c.851C>T	c.(850-852)cCt>cTt	p.P284L	MBD6_ENST00000431731.2_Missense_Mutation_p.P284L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	284	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCCTGGTCCTGCCTCTCAG	0.672																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(850-852)cCt>cTt		methyl-CpG binding domain protein 6							31.0	41.0	38.0					12																	57919602		2193	4293	6486	SO:0001583	missense	0					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919602C>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.851C>T	12.37:g.57919602C>T	ENSP00000347896:p.Pro284Leu					MBD6_ENST00000431731.2_Missense_Mutation_p.P284L	p.P284L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1207	+			284			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.851C>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	0.986	-0.695574	0.03279	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	3.5	0.40072	.	0.989793	0.08167	N	0.987555	T	0.29288	0.0729	N	0.08118	0	0.31258	N	0.693248	B;B	0.24092	0.097;0.001	B;B	0.27262	0.078;0.006	T	0.16719	-1.0393	8	.	.	.	-0.6554	10.9053	0.47076	0.0:1.0:0.0:0.0	.	284;284	Q6P0P0;Q96DN6	.;MBD6_HUMAN	L	284	.	.	P	+	2	0	MBD6	56205869	0.716000	0.27956	1.000000	0.80357	0.955000	0.61496	1.395000	0.34520	2.243000	0.73865	0.544000	0.68410	CCT		0.672	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			7	22	0	0	0	1	0	7	22				
MS4A7	58475	broad.mit.edu	37	11	60150653	60150653	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:60150653C>T	ENST00000300184.3	+	2	235	c.39C>T	c.(37-39)agC>agT	p.S13S	MS4A7_ENST00000534016.1_Silent_p.S13S|MS4A7_ENST00000530234.2_Silent_p.S13S|MS4A7_ENST00000358246.1_Silent_p.S13S|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	13						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTCTCACAGCTTTACACCAA	0.463																																						ENST00000358246.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						c.(37-39)agC>agT		membrane-spanning 4-domains, subfamily A, member 7							118.0	105.0	110.0					11																	60150653		2203	4300	6503	SO:0001819	synonymous_variant	58475					integral to membrane	receptor activity	g.chr11:60150653C>T	AB026043	CCDS7985.1, CCDS7986.1	11q12	2008-03-25				ENSG00000166927			13378	protein-coding gene	gene with protein product		606502				11245982, 11401424	Standard	NM_021201		Approved	CD20L4, CFFM4, MS4A8	uc001npf.3	Q9GZW8		ENST00000300184.3:c.39C>T	11.37:g.60150653C>T						MS4A7_ENST00000530234.2_Silent_p.S13S|MS4A7_ENST00000300184.3_Silent_p.S13S|MS4A7_ENST00000534016.1_Silent_p.S13S|MS4A14_ENST00000531787.1_Intron	p.S13S	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN			2	232	+			13					A6NP53|Q6IAG8	Silent	SNP	ENST00000300184.3	37	c.39C>T	CCDS7985.1																																																																																				0.463	MS4A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394299.1			5	79	0	0	0	1	0	5	79				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	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			21	60	0	0	0	1	0	21	60				
HTR1B	3351	broad.mit.edu	37	6	78172156	78172156	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:78172156G>T	ENST00000369947.2	-	1	1334	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	322					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CACAATAAAGGCTCCCAAAAT	0.507																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(964-966)gCc>gAc		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						161.0	155.0	157.0					6																	78172156		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172156G>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.965C>A	6.37:g.78172156G>T	ENSP00000358963:p.Ala322Asp						p.A322D	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1334	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	322					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.965C>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833313	0.50951	.	.	ENSG00000135312	ENST00000369947	T	0.73897	-0.79	5.31	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87775	0.6262	H	0.96748	3.875	0.80722	D	1	P	0.47350	0.894	D	0.65874	0.939	D	0.90698	0.4618	9	.	.	.	.	11.7629	0.51914	0.0894:0.0:0.9106:0.0	.	322	P28222	5HT1B_HUMAN	D	322	ENSP00000358963:A322D	.	A	-	2	0	HTR1B	78228875	1.000000	0.71417	0.931000	0.37212	0.439000	0.31926	6.377000	0.73145	1.394000	0.46624	0.561000	0.74099	GCC		0.507	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		103	119	1	0	1.22879e-52	1	1.31656e-52	103	119				
NLRP3	114548	broad.mit.edu	37	1	247582222	247582222	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:247582222G>A	ENST00000336119.3	+	1	872	c.126G>A	c.(124-126)ccG>ccA	p.P42P	NLRP3_ENST00000391827.2_Silent_p.P42P|NLRP3_ENST00000348069.2_Silent_p.P42P|NLRP3_ENST00000366496.2_Silent_p.P42P|NLRP3_ENST00000391828.3_Silent_p.P42P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Silent_p.P42P	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCCCTCCCGAGGGGTCAGA	0.562																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(124-126)ccG>ccA		NLR family, pyrin domain containing 3							53.0	47.0	49.0					1																	247582222		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582222G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.126G>A	1.37:g.247582222G>A						NLRP3_ENST00000366496.2_Silent_p.P42P|NLRP3_ENST00000348069.2_Silent_p.P42P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.P42P|NLRP3_ENST00000391827.2_Silent_p.P42P|NLRP3_ENST00000336119.3_Silent_p.P42P	p.P42P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	906	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	42			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.126G>A	CCDS1632.1																																																																																				0.562	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		34	52	0	0	0	1	0	34	52				
MATK	4145	broad.mit.edu	37	19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A	rs373715019		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:3784173G>A	ENST00000310132.6	-	5	709	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_ENST00000395045.2_Missense_Mutation_p.A105V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V|MATK_ENST00000395040.2_Missense_Mutation_p.A63V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	104	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCAGCGCCCCAGCTGC	0.682																																						ENST00000310132.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26						c.(310-312)gCg>gTg		megakaryocyte-associated tyrosine kinase			VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	42.0	47.0	45.0		314,188,311	3.2	0.0	19		45	0,8600		0,0,4300	no	missense,missense,missense	MATK	NM_002378.3,NM_139354.2,NM_139355.2	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	105/509,63/467,104/508	3784173	1,13005	2203	4300	6503	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3784173G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.311C>T	19.37:g.3784173G>A	ENSP00000308734:p.Ala104Val					MATK_ENST00000395045.2_Missense_Mutation_p.A105V|MATK_ENST00000395040.2_Missense_Mutation_p.A63V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V	p.A104V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	709	-		Hepatocellular(1079;0.137)	104			SH3.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.311C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	g	14.60	2.582527	0.46006	2.27E-4	0.0	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	T;T;T	0.16457	2.34;2.34;2.34	4.25	3.16	0.36331	Src homology-3 domain (3);	0.534815	0.19061	N	0.123770	T	0.16342	0.0393	L	0.40543	1.245	0.09310	N	1	D;D;D	0.60160	0.987;0.987;0.987	B;B;B	0.43194	0.411;0.411;0.411	T	0.06607	-1.0817	10	0.87932	D	0	-21.872	12.3729	0.55263	0.0:0.0:0.8299:0.17	.	104;105;104	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	V	105;104;63	ENSP00000378485:A105V;ENSP00000308734:A104V;ENSP00000378481:A63V	ENSP00000308734:A104V	A	-	2	0	MATK	3735173	0.399000	0.25287	0.026000	0.17262	0.752000	0.42762	3.599000	0.54045	0.839000	0.34971	0.306000	0.20318	GCG		0.682	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		21	21	0	0	0	1	0	21	21				
IPO4	79711	broad.mit.edu	37	14	24652223	24652223	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:24652223C>A	ENST00000354464.6	-	23	2556	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	794					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTCAGCGAGGCGCCCA	0.687																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(2380-2382)Gct>Tct		importin 4							38.0	44.0	42.0					14																	24652223		2117	4225	6342	SO:0001583	missense	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24652223C>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.2380G>T	14.37:g.24652223C>A	ENSP00000346453:p.Ala794Ser					RP11-468E2.2_ENST00000561419.1_3'UTR	p.A794S	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	23	2556	-			794					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.2380G>T	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	1.992	-0.431547	0.04669	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.64803	-0.12	5.37	1.13	0.20643	Armadillo-like helical (1);Armadillo-type fold (2);	0.586615	0.18436	N	0.141295	T	0.32010	0.0815	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.002;0.006	B;B	0.16289	0.007;0.015	T	0.14531	-1.0469	10	0.12103	T	0.63	0.0035	4.4773	0.11750	0.1466:0.4867:0.2847:0.082	.	794;794	Q8TEX9;Q8TEX9-2	IPO4_HUMAN;.	S	794;470	ENSP00000346453:A794S	ENSP00000346453:A794S	A	-	1	0	IPO4	23722063	0.001000	0.12720	0.046000	0.18839	0.179000	0.23085	0.756000	0.26419	0.342000	0.23796	0.655000	0.94253	GCT		0.687	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		4	117	1	0	1	1	1	4	117				
PTPRR	5801	broad.mit.edu	37	12	71286551	71286551	+	Missense_Mutation	SNP	C	C	T	rs567626445		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:71286551C>T	ENST00000283228.2	-	2	717	c.265G>A	c.(265-267)Gca>Aca	p.A89T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	89					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTCATATGCGGGTCTAGGA	0.453																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(265-267)Gca>Aca		protein tyrosine phosphatase, receptor type, R							212.0	209.0	210.0					12																	71286551		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286551C>T	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.265G>A	12.37:g.71286551C>T	ENSP00000283228:p.Ala89Thr						p.A89T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	717	-			89					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.265G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801987	0.50315	.	.	ENSG00000153233	ENST00000283228	T	0.03745	3.82	5.86	5.86	0.93980	.	0.000000	0.39274	U	0.001406	T	0.03608	0.0103	N	0.24115	0.695	0.80722	D	1	P	0.52842	0.956	B	0.35655	0.207	T	0.51513	-0.8696	10	0.62326	D	0.03	-15.5972	19.1878	0.93651	0.0:1.0:0.0:0.0	.	89	Q15256	PTPRR_HUMAN	T	89	ENSP00000283228:A89T	ENSP00000283228:A89T	A	-	1	0	PTPRR	69572818	1.000000	0.71417	0.993000	0.49108	0.260000	0.26232	3.341000	0.52151	2.776000	0.95493	0.650000	0.86243	GCA		0.453	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		4	140	0	0	0	1	0	4	140				
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T	rs199688784	byFrequency	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462									tubulin, beta pseudogene 5																		ACAACTGGGCCAAGGGACGCT	0.577																																						ENST00000503395.1																			0																																																			0							g.chr9:141070687C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070687C>T														0	1462	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	5	0	0	0	1	0	4	5				
MOCOS	55034	broad.mit.edu	37	18	33785151	33785151	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr18:33785151A>T	ENST00000261326.5	+	6	1151	c.1130A>T	c.(1129-1131)gAt>gTt	p.D377V		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTTACAGCGATTCTGAGTTC	0.498																																						ENST00000261326.5																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1129-1131)gAt>gTt		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						130.0	121.0	124.0					18																	33785151		2203	4300	6503	SO:0001583	missense	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33785151A>T	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1130A>T	18.37:g.33785151A>T	ENSP00000261326:p.Asp377Val						p.D377V	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN			6	1151	+			377						Missense_Mutation	SNP	ENST00000261326.5	37	c.1130A>T	CCDS11919.1	.	.	.	.	.	.	.	.	.	.	A	11.65	1.700847	0.30142	.	.	ENSG00000075643	ENST00000261326	T	0.32988	1.43	5.89	5.89	0.94794	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.157235	0.56097	D	0.000033	T	0.36908	0.0984	M	0.72624	2.21	0.58432	D	0.999995	B	0.13145	0.007	B	0.23275	0.045	T	0.13872	-1.0493	10	0.48119	T	0.1	-20.0238	14.2667	0.66123	1.0:0.0:0.0:0.0	.	377	Q96EN8	MOCOS_HUMAN	V	377	ENSP00000261326:D377V	ENSP00000261326:D377V	D	+	2	0	MOCOS	32039149	1.000000	0.71417	0.848000	0.33437	0.160000	0.22226	7.159000	0.77483	2.247000	0.74100	0.523000	0.50628	GAT		0.498	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			6	182	0	0	0	1	0	6	182				
VIT	5212	broad.mit.edu	37	2	37035632	37035632	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:37035632C>T	ENST00000389975.3	+	14	1664	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	VIT_ENST00000404084.1_Silent_p.N406N|VIT_ENST00000379242.3_Silent_p.N469N|VIT_ENST00000401530.1_Silent_p.N433N|VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000497382.1_Silent_p.N123N	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	454	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCAGAACAAACGGCTTCTACT	0.622																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1405-1407)aaC>aaT		vitrin							33.0	29.0	30.0					2																	37035632		2203	4300	6503	SO:0001819	synonymous_variant	5212					proteinaceous extracellular matrix		g.chr2:37035632C>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1362C>T	2.37:g.37035632C>T						VIT_ENST00000401530.1_Silent_p.N433N|VIT_ENST00000389975.3_Silent_p.N454N|VIT_ENST00000497382.1_Silent_p.N123N|VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000404084.1_Silent_p.N406N	p.N469N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1709	+		all_hematologic(82;0.248)	454			VWFA 1.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Silent	SNP	ENST00000389975.3	37	c.1407C>T	CCDS54347.1																																																																																				0.622	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				24	51	0	0	0	1	0	24	51				
HIST1H4C	8364	broad.mit.edu	37	6	26104189	26104189	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:26104189G>A	ENST00000377803.2	+	1	86	c.14G>A	c.(13-15)gGc>gAc	p.G5D		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	5					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCTGGTCGCGGCAAAGGCGGA	0.502																																						ENST00000377803.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(13-15)gGc>gAc		histone cluster 1, H4c							51.0	53.0	52.0					6																	26104189		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104189G>A	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.14G>A	6.37:g.26104189G>A	ENSP00000367034:p.Gly5Asp						p.G5D	NM_003542.3	NP_003533.1	P62805	H4_HUMAN			1	86	+			5					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.14G>A	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	17.40	3.380717	0.61845	.	.	ENSG00000197061	ENST00000377803	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.69305	0.3096	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72629	-0.4235	6	0.66056	D	0.02	.	15.566	0.76294	0.0:0.0:1.0:0.0	.	.	.	.	D	5	.	ENSP00000367034:G5D	G	+	2	0	HIST1H4C	26212168	1.000000	0.71417	0.132000	0.22025	0.036000	0.12997	9.645000	0.98471	2.614000	0.88457	0.561000	0.74099	GGC		0.502	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		3	102	0	0	0	1	0	3	102				
NUMA1	4926	broad.mit.edu	37	11	71720101	71720101	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:71720101T>C	ENST00000393695.3	-	19	5301	c.4970A>G	c.(4969-4971)cAt>cGt	p.H1657R	NUMA1_ENST00000351960.6_Missense_Mutation_p.H521R|NUMA1_ENST00000358965.6_Missense_Mutation_p.H1643R	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTAGCTCATGGCCCAGCCG	0.592			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4969-4971)cAt>cGt		nuclear mitotic apparatus protein 1							53.0	50.0	51.0					11																	71720101		2200	4293	6493	SO:0001583	missense	0				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71720101T>C	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4970A>G	11.37:g.71720101T>C	ENSP00000377298:p.His1657Arg					NUMA1_ENST00000358965.6_Missense_Mutation_p.H1643R|NUMA1_ENST00000351960.6_Missense_Mutation_p.H521R	p.H1657R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			19	5301	-			1657						Missense_Mutation	SNP	ENST00000393695.3	37	c.4970A>G	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.664|7.664	0.685458|0.685458	0.14973|0.14973	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544|ENST00000541584	T;T;T|.	0.40476|.	2.38;1.03;2.93|.	5.56|5.56	2.55|2.55	0.30701|0.30701	.|.	0.466534|.	0.18547|.	N|.	0.138013|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	0.999998|0.999998	B;B;B;B;B|.	0.11235|.	0.0;0.0;0.0;0.0;0.004|.	B;B;B;B;B|.	0.08055|.	0.0;0.0;0.0;0.0;0.003|.	T|T	0.26121|0.26121	-1.0112|-1.0112	10|5	0.14252|.	T|.	0.57|.	.|.	6.301|6.301	0.21113|0.21113	0.0:0.4573:0.0:0.5427|0.0:0.4573:0.0:0.5427	.|.	1663;1127;1643;1657;521|.	Q4LE64;Q59HB8;Q14980-2;Q14980;Q9BTE9|.	.;.;.;NUMA1_HUMAN;.|.	R|V	521;1643;1657;1206;612|488	ENSP00000260051:H521R;ENSP00000351851:H1643R;ENSP00000377298:H1657R|.	ENSP00000260051:H521R|.	H|M	-|-	2|1	0|0	NUMA1|NUMA1	71397749|71397749	0.019000|0.019000	0.18553|0.18553	0.853000|0.853000	0.33588|0.33588	0.951000|0.951000	0.60555|0.60555	0.140000|0.140000	0.16056|0.16056	0.623000|0.623000	0.30267|0.30267	0.459000|0.459000	0.35465|0.35465	CAT|ATG		0.592	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			26	43	0	0	0	1	0	26	43				
MPO	4353	broad.mit.edu	37	17	56355208	56355208	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56355208C>T	ENST00000225275.3	-	7	1360	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	MPO_ENST00000340482.3_Missense_Mutation_p.R427H|MPO_ENST00000578493.1_5'UTR	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	395					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GCAGGGGATGCGCGCTGAGCG	0.617																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1279-1281)cGc>cAc		myeloperoxidase	Cefdinir(DB00535)						58.0	59.0	59.0					17																	56355208		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355208C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1184G>A	17.37:g.56355208C>T	ENSP00000225275:p.Arg395His					MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.R395H	p.R427H			P05164	PERM_HUMAN			6	1456	-			395					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1280G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347232	0.24426	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.73363	-0.74;-0.74	4.8	2.79	0.32731	.	1.422290	0.03913	N	0.282206	T	0.70815	0.3267	L	0.54323	1.7	0.09310	N	1	P	0.42409	0.779	B	0.38020	0.263	T	0.58059	-0.7703	10	0.49607	T	0.09	-2.9074	8.7721	0.34740	0.0:0.7347:0.0:0.2653	.	395	P05164	PERM_HUMAN	H	427;395	ENSP00000344419:R427H;ENSP00000225275:R395H	ENSP00000225275:R395H	R	-	2	0	MPO	53710207	0.000000	0.05858	0.354000	0.25760	0.416000	0.31233	0.490000	0.22403	0.620000	0.30215	0.561000	0.74099	CGC		0.617	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			5	90	0	0	0	1	0	5	90				
KIAA1841	84542	broad.mit.edu	37	2	61315601	61315601	+	Silent	SNP	A	A	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:61315601A>C	ENST00000402291.1	+	10	1327	c.1086A>C	c.(1084-1086)atA>atC	p.I362I	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.I362I|KIAA1841_ENST00000295031.5_Silent_p.I362I|KIAA1841_ENST00000356719.2_Silent_p.I362I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	362										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATATTCACATAAGGTGTCGTG	0.328																																						ENST00000402291.1																			0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1084-1086)atA>atC		KIAA1841							55.0	52.0	53.0					2																	61315601		2203	4299	6502	SO:0001819	synonymous_variant	84542							g.chr2:61315601A>C	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1086A>C	2.37:g.61315601A>C						KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.I362I|KIAA1841_ENST00000295031.5_Silent_p.I362I|KIAA1841_ENST00000356719.2_Silent_p.I362I	p.I362I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		10	1327	+			362					Q49AF0|Q6ZND0|Q96JI6	Silent	SNP	ENST00000402291.1	37	c.1086A>C	CCDS46296.1																																																																																				0.328	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		35	26	0	0	0	1	0	35	26				
CHST15	51363	broad.mit.edu	37	10	125801890	125801890	+	Silent	SNP	G	G	A	rs150036804		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:125801890G>A	ENST00000346248.5	-	4	1602	c.960C>T	c.(958-960)gcC>gcT	p.A320A	CHST15_ENST00000421115.1_Silent_p.A320A|CHST15_ENST00000435907.1_Silent_p.A320A	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	320					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTGGTGTGCGGCCAGGTCAA	0.527																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(958-960)gcC>gcT		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15		G	,	1,4405	2.1+/-5.4	0,1,2202	121.0	107.0	111.0		960,960	-11.9	0.1	10	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CHST15	NM_014863.2,NM_015892.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	320/507,320/562	125801890	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125801890G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.960C>T	10.37:g.125801890G>A						CHST15_ENST00000421115.1_Silent_p.A320A|CHST15_ENST00000435907.1_Silent_p.A320A	p.A320A	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			4	1602	-			320					O60338|O60474|Q86VM4	Silent	SNP	ENST00000346248.5	37	c.960C>T	CCDS7638.1																																																																																				0.527	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		4	78	0	0	0	1	0	4	78				
RFTN2	130132	broad.mit.edu	37	2	198436793	198436793	+	Missense_Mutation	SNP	C	C	A	rs576710965		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:198436793C>A	ENST00000295049.4	-	9	1981	c.1445G>T	c.(1444-1446)cGg>cTg	p.R482L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	482					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GTCTAATTCCCGGAGGACGTT	0.532																																						ENST00000295049.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						c.(1444-1446)cGg>cTg		raftlin family member 2							128.0	110.0	116.0					2																	198436793		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198436793C>A	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1445G>T	2.37:g.198436793C>A	ENSP00000295049:p.Arg482Leu						p.R482L	NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN			9	1981	-			482					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1445G>T	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500334	0.44455	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.51071	0.81;0.72	4.84	2.11	0.27256	.	0.399409	0.25302	N	0.031643	T	0.46580	0.1400	L	0.29908	0.895	0.37839	D	0.929002	D	0.59767	0.986	P	0.58077	0.832	T	0.48885	-0.8995	10	0.66056	D	0.02	-9.1359	7.8039	0.29191	0.0:0.6739:0.0:0.3261	.	482	Q52LD8	RFTN2_HUMAN	L	482;174	ENSP00000295049:R482L;ENSP00000387459:R174L	ENSP00000295049:R482L	R	-	2	0	RFTN2	198145038	0.864000	0.29904	0.674000	0.29902	0.762000	0.43233	0.861000	0.27885	0.279000	0.22186	-0.215000	0.12644	CGG		0.532	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		3	97	1	0	1	1	1	3	97				
PHF1	5252	broad.mit.edu	37	6	33383710	33383710	+	Silent	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:33383710C>A	ENST00000374516.3	+	15	1810	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	PHF1_ENST00000374512.3_3'UTR|CUTA_ENST00000492510.1_5'Flank	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	513					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCTCAGCACCCCCTTCTCCCC	0.607																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1537-1539)ccC>ccA		PHD finger protein 1							94.0	88.0	90.0					6																	33383710		2203	4300	6503	SO:0001819	synonymous_variant	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33383710C>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.1539C>A	6.37:g.33383710C>A						PHF1_ENST00000374512.3_3'UTR	p.P513P	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			15	1810	+		Ovarian(999;0.0443)	513					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Silent	SNP	ENST00000374516.3	37	c.1539C>A	CCDS4777.1																																																																																				0.607	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			5	218	1	0	0.0215528	1	0.022296	5	218				
CIB3	117286	broad.mit.edu	37	19	16280488	16280488	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:16280488C>T	ENST00000269878.4	-	3	200	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	51							calcium ion binding (GO:0005509)	p.D51N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACCTTCACATCGGGGCAGGTG	0.562																																						ENST00000269878.4																			1	Substitution - Missense(1)	p.D51N(1)	skin(1)	cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(151-153)Gat>Aat		calcium and integrin binding family member 3							76.0	60.0	66.0					19																	16280488		2203	4300	6503	SO:0001583	missense	117286						calcium ion binding	g.chr19:16280488C>T	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.151G>A	19.37:g.16280488C>T	ENSP00000269878:p.Asp51Asn					CIB3_ENST00000379859.3_Intron|CIB3_ENST00000541493.1_Intron	p.D51N	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			3	200	-			51					E7EUX1|Q2M1W0|Q6ISP1	Missense_Mutation	SNP	ENST00000269878.4	37	c.151G>A	CCDS12340.1	.	.	.	.	.	.	.	.	.	.	C	0.223	-1.026847	0.02045	.	.	ENSG00000141977	ENST00000269878	T	0.70399	-0.48	4.91	-0.184	0.13280	EF-hand-like domain (1);	0.286719	0.37136	N	0.002229	T	0.49218	0.1544	N	0.21142	0.635	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.29274	-1.0017	10	0.31617	T	0.26	-3.0177	7.0721	0.25183	0.0:0.5674:0.2262:0.2064	.	51	Q96Q77	CIB3_HUMAN	N	51	ENSP00000269878:D51N	ENSP00000269878:D51N	D	-	1	0	CIB3	16141488	0.119000	0.22226	0.000000	0.03702	0.022000	0.10575	1.216000	0.32443	0.080000	0.16959	0.561000	0.74099	GAT		0.562	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		5	83	0	0	0	1	0	5	83				
NCOR1	9611	broad.mit.edu	37	17	15974805	15974805	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:15974805T>C	ENST00000268712.3	-	30	4327	c.4070A>G	c.(4069-4071)cAa>cGa	p.Q1357R	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1373R|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1357	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAAAATATCTTGCCTTGGAAT	0.453																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(4069-4071)cAa>cGa		nuclear receptor corepressor 1							179.0	171.0	174.0					17																	15974805		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15974805T>C	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4070A>G	17.37:g.15974805T>C	ENSP00000268712:p.Gln1357Arg					NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1373R	p.Q1357R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	30	4327	-			1357			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.4070A>G	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657488	0.47467	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	T;T	0.53423	0.62;0.62	5.37	5.37	0.77165	.	0.051558	0.85682	D	0.000000	T	0.61949	0.2388	L	0.47716	1.5	0.80722	D	1	D;D;P;P	0.65815	0.994;0.995;0.678;0.784	D;D;B;B	0.75020	0.985;0.978;0.219;0.391	T	0.65113	-0.6247	10	0.87932	D	0	-11.4745	14.5355	0.67958	0.0:0.0:0.0:1.0	.	168;1264;1357;1373	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	R	1357;1373;1264	ENSP00000268712:Q1357R;ENSP00000379192:Q1373R	ENSP00000268712:Q1357R	Q	-	2	0	NCOR1	15915530	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.445000	0.80570	2.015000	0.59207	0.460000	0.39030	CAA		0.453	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		253	49	0	0	0	1	0	253	49				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	35	0	0	0	1	0	3	35				
DIP2A	23181	broad.mit.edu	37	21	47978201	47978201	+	Silent	SNP	T	T	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:47978201T>C	ENST00000417564.2	+	32	3885	c.3864T>C	c.(3862-3864)atT>atC	p.I1288I	DIP2A_ENST00000400274.1_Silent_p.I1284I|DIP2A_ENST00000318711.7_Silent_p.I1289I			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1288					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCAGGATTGCGCTGACCC	0.667																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3865-3867)atT>atC		DIP2 disco-interacting protein 2 homolog A (Drosophila)							25.0	29.0	28.0					21																	47978201		2112	4212	6324	SO:0001819	synonymous_variant	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47978201T>C	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.3864T>C	21.37:g.47978201T>C						DIP2A_ENST00000417564.2_Silent_p.I1288I|DIP2A_ENST00000400274.1_Silent_p.I1284I	p.I1289I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	32	4050	+	Breast(49;0.0933)		1288					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	c.3867T>C	CCDS46655.1																																																																																				0.667	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		6	22	0	0	0	1	0	6	22				
ACLY	47	broad.mit.edu	37	17	40030158	40030158	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:40030158G>A	ENST00000352035.2	-	23	2678	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACLY_ENST00000590151.1_Nonsense_Mutation_p.Q850*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.Q840*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.Q579*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.Q840*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	850					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGAGCTCCTGTCCTCGCTCA	0.592																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(2548-2550)Cag>Tag		ATP citrate lyase							60.0	56.0	57.0					17																	40030158		2203	4300	6503	SO:0001587	stop_gained	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40030158G>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2548C>T	17.37:g.40030158G>A	ENSP00000253792:p.Gln850*					ACLY_ENST00000353196.1_Nonsense_Mutation_p.Q840*|ACLY_ENST00000590151.1_Nonsense_Mutation_p.Q850*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.Q579*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.Q840*	p.Q850*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			23	2678	-		Breast(137;0.000143)	850					B4DIM0|B4E3P0|Q13037|Q9BRL0	Nonsense_Mutation	SNP	ENST00000352035.2	37	c.2548C>T	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	G	40	8.201899	0.98704	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3409	0.98764	0.0:0.0:1.0:0.0	.	.	.	.	X	850;904;840;579;840	.	ENSP00000253792:Q850X	Q	-	1	0	ACLY	37283684	1.000000	0.71417	0.969000	0.41365	0.639000	0.38242	9.720000	0.98763	2.814000	0.96858	0.655000	0.94253	CAG		0.592	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096		22	89	0	0	0	1	0	22	89				
FBN1	2200	broad.mit.edu	37	15	48729544	48729544	+	Silent	SNP	G	G	T	rs112989722		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:48729544G>T	ENST00000316623.5	-	52	6809	c.6354C>A	c.(6352-6354)atC>atA	p.I2118I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2118					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACGATGATCCCAC	0.423																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139	GRCh37	CM074799|CS971734	FBN1	M|S	rs112989722	c.(6352-6354)atC>atA		fibrillin 1							71.0	72.0	72.0					15																	48729544		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48729544G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6354C>A	15.37:g.48729544G>T							p.I2118I	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	52	6809	-		all_lung(180;0.00279)	2118					B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.6354C>A	CCDS32232.1																																																																																				0.423	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			32	9	1	0	4.3181e-19	1	4.5721e-19	32	9				
IGKV3D-20	28874	broad.mit.edu	37	2	90077808	90077808	+	RNA	SNP	T	T	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:90077808T>A	ENST00000390270.2	+	0	129									immunoglobulin kappa variable 3D-20																		CTCTTCCTCCTGCTACTCTGG	0.537																																						ENST00000390270.2																			0																				88.0	95.0	93.0					2																	90077808		1822	4062	5884			0							g.chr2:90077808T>A	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90077808T>A														0	129	+									RNA	SNP	ENST00000390270.2	37																																																																																						0.537	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		4	184	0	0	0	1	0	4	184				
ATP10B	23120	broad.mit.edu	37	5	160047926	160047926	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:160047926C>T	ENST00000327245.5	-	15	2690	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	615					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGACGTCCCCAGAGCCTT	0.488																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1843-1845)gGg>gAg		ATPase, class V, type 10B							178.0	172.0	174.0					5																	160047926		1983	4192	6175	SO:0001583	missense	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160047926C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1844G>A	5.37:g.160047926C>T	ENSP00000313600:p.Gly615Glu					CTC-348L5.1_ENST00000523598.1_RNA	p.G615E	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	2690	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	615					Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.1844G>A	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761639	0.31228	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.84873	-1.91;-1.91	5.53	3.75	0.43078	HAD-like domain (1);	0.503549	0.21377	N	0.075526	D	0.90424	0.7002	M	0.61703	1.905	0.45439	D	0.998412	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.981	D	0.88905	0.3355	9	.	.	.	.	14.1514	0.65387	0.2731:0.7269:0.0:0.0	.	223;615	Q2YDW8;O94823	.;AT10B_HUMAN	E	615;223	ENSP00000313600:G615E;ENSP00000431081:G223E	.	G	-	2	0	ATP10B	159980504	0.991000	0.36638	0.648000	0.29521	0.166000	0.22503	3.374000	0.52402	0.696000	0.31696	-0.169000	0.13324	GGG		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	216	0	0	0	1	0	6	216				
CDH4	1002	broad.mit.edu	37	20	60419770	60419770	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:60419770C>A	ENST00000360469.5	+	5	711	c.623C>A	c.(622-624)aCg>aAg	p.T208K	CDH4_ENST00000543233.1_Missense_Mutation_p.T134K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	208	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T208M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACAGCATCACGGGAGTGGGC	0.612																																						ENST00000360469.5																			1	Substitution - Missense(1)	p.T208M(1)	ovary(1)	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(622-624)aCg>aAg		cadherin 4, type 1, R-cadherin (retinal)							90.0	78.0	82.0					20																	60419770		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419770C>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.623C>A	20.37:g.60419770C>A	ENSP00000353656:p.Thr208Lys					CDH4_ENST00000543233.1_Missense_Mutation_p.T134K	p.T208K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	711	+			208			Cadherin 1.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.623C>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199580	0.58126	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	3.68	3.68	0.42216	Cadherin (4);Cadherin-like (1);	0.117348	0.56097	D	0.000023	T	0.64983	0.2648	M	0.66506	2.035	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.67515	-0.5651	9	.	.	.	.	15.7299	0.77792	0.0:1.0:0.0:0.0	.	208	P55283	CADH4_HUMAN	K	208;116;134	ENSP00000353656:T208K;ENSP00000443301:T134K	.	T	+	2	0	CDH4	59853165	1.000000	0.71417	0.998000	0.56505	0.063000	0.16089	7.491000	0.81471	1.753000	0.51906	0.313000	0.20887	ACG		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		3	131	1	0	1	1	1	3	131				
ADAM23	8745	broad.mit.edu	37	2	207310230	207310230	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:207310230C>G	ENST00000264377.3	+	2	742	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADAM23_ENST00000374416.1_Missense_Mutation_p.H138Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.H138Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	138					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGCAAGACACCAGCAAAAAC	0.398																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(412-414)caC>caG		ADAM metallopeptidase domain 23							101.0	101.0	101.0					2																	207310230		2203	4300	6503	SO:0001583	missense	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207310230C>G	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.414C>G	2.37:g.207310230C>G	ENSP00000264377:p.His138Gln					ADAM23_ENST00000374416.1_Missense_Mutation_p.H138Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.H138Q	p.H138Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	2	742	+			138					A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	c.414C>G	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	C	5.725	0.318257	0.10845	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.05717	3.4;3.4;3.4	5.95	5.07	0.68467	Peptidase M12B, propeptide (1);	0.000000	0.49305	D	0.000141	T	0.03871	0.0109	N	0.14661	0.345	0.38509	D	0.948413	B	0.15473	0.013	B	0.17098	0.017	T	0.45220	-0.9276	10	0.11182	T	0.66	.	10.7437	0.46168	0.0:0.8595:0.0:0.1405	.	138	O75077	ADA23_HUMAN	Q	138;138;32;138	ENSP00000264377:H138Q;ENSP00000363537:H138Q;ENSP00000363536:H138Q	ENSP00000264377:H138Q	H	+	3	2	ADAM23	207018475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.111000	0.50360	2.824000	0.97209	0.655000	0.94253	CAC		0.398	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		44	100	0	0	0	1	0	44	100				
HSPG2	3339	broad.mit.edu	37	1	22166420	22166420	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:22166420C>T	ENST00000374695.3	-	72	9683	c.9604G>A	c.(9604-9606)Gtg>Atg	p.V3202M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3202	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCGTGTCCACGATCACCTCC	0.587																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9604-9606)Gtg>Atg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						163.0	155.0	158.0					1																	22166420		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22166420C>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9604G>A	1.37:g.22166420C>T	ENSP00000363827:p.Val3202Met						p.V3202M	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	72	9683	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3202			Ig-like C2-type 17.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.9604G>A	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181562	0.57800	.	.	ENSG00000142798	ENST00000374695	T	0.70869	-0.52	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.36066	N	0.002812	D	0.87881	0.6289	M	0.93283	3.4	0.49687	D	0.999819	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.90425	0.4420	10	0.87932	D	0	.	14.8651	0.70409	0.0:0.8557:0.1443:0.0	.	1142;3202	Q59EG0;P98160	.;PGBM_HUMAN	M	3202	ENSP00000363827:V3202M	ENSP00000363827:V3202M	V	-	1	0	HSPG2	22039007	0.998000	0.40836	1.000000	0.80357	0.190000	0.23558	3.922000	0.56462	2.688000	0.91661	0.563000	0.77884	GTG		0.587	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		112	181	0	0	0	1	0	112	181				
SPEF2	79925	broad.mit.edu	37	5	35709170	35709170	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:35709170A>G	ENST00000356031.3	+	19	2940	c.2786A>G	c.(2785-2787)cAt>cGt	p.H929R	SPEF2_ENST00000509059.1_Missense_Mutation_p.H924R|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.H924R	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	929					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGAAATTCATCAAAGCCAT	0.418																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2770-2772)cAt>cGt		sperm flagellar 2							89.0	88.0	89.0					5																	35709170		1864	4099	5963	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35709170A>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2786A>G	5.37:g.35709170A>G	ENSP00000348314:p.His929Arg					SPEF2_ENST00000509059.1_Missense_Mutation_p.H924R|SPEF2_ENST00000356031.3_Missense_Mutation_p.H929R|CTD-2113L7.1_ENST00000510433.1_RNA	p.H924R			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		19	2771	+	all_lung(31;7.56e-05)		929					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2771A>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	1.872	-0.459957	0.04508	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995	T;T;T	0.06608	3.42;3.28;3.57	5.23	1.63	0.23807	.	1.138970	0.06591	N	0.751967	T	0.08447	0.0210	L	0.57536	1.79	0.09310	N	1	B;B;B	0.26400	0.148;0.004;0.001	B;B;B	0.14578	0.011;0.004;0.002	T	0.44236	-0.9341	10	0.21014	T	0.42	.	10.9742	0.47456	0.5115:0.4885:0.0:0.0	.	924;924;929	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	R	929;924;924	ENSP00000348314:H929R;ENSP00000421593:H924R;ENSP00000412125:H924R	ENSP00000348314:H929R	H	+	2	0	SPEF2	35744927	0.000000	0.05858	0.001000	0.08648	0.191000	0.23601	0.077000	0.14738	0.308000	0.22923	0.528000	0.53228	CAT		0.418	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		21	145	0	0	0	1	0	21	145				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	82	0	0	0	1	0	6	82				
SH3TC2	79628	broad.mit.edu	37	5	148407828	148407828	+	Silent	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:148407828G>A	ENST00000515425.1	-	11	1568	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	SH3TC2_ENST00000538184.1_Silent_p.F36F|SH3TC2_ENST00000512049.1_Silent_p.F482F|SH3TC2_ENST00000394358.2_Silent_p.F374F|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	489					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGAAGGAGAAGTCATAGA	0.483																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(106-108)ttC>ttT		SH3 domain and tetratricopeptide repeats 2							102.0	109.0	106.0					5																	148407828		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148407828G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1467C>T	5.37:g.148407828G>A						SH3TC2_ENST00000512049.1_Silent_p.F482F|SH3TC2_ENST00000394358.2_Silent_p.F374F|SH3TC2_ENST00000515425.1_Silent_p.F489F	p.F36F			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	996	-			489					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.108C>T	CCDS4293.1																																																																																				0.483	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		4	133	0	0	0	1	0	4	133				
COL4A6	1288	broad.mit.edu	37	X	107454952	107454952	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:107454952C>T	ENST00000372216.4	-	7	563	c.463G>A	c.(463-465)Gga>Aga	p.G155R	COL4A6_ENST00000334504.7_Missense_Mutation_p.G154R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G154R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G154R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G153R	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	155	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTTGATCCTTTCTGACCA	0.403									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000334504.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(460-462)Gga>Aga		collagen, type IV, alpha 6							90.0	85.0	86.0					X																	107454952		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107454952C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.463G>A	X.37:g.107454952C>T	ENSP00000361290:p.Gly155Arg					COL4A6_ENST00000372216.4_Missense_Mutation_p.G155R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G154R|COL4A6_ENST00000394872.2_Missense_Mutation_p.G153R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G154R	p.G154R	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN			7	693	-			155			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.460G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674016	0.29693	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-4.6	5.15	5.15	0.70609	.	0.459507	0.16911	N	0.194491	D	0.99775	0.9907	H	0.96970	3.915	0.44937	D	0.997957	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97561	1.0098	10	0.87932	D	0	.	15.0733	0.72056	0.0:1.0:0.0:0.0	.	154;154;155;154	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	R	155;154;153;154;154;154	ENSP00000361290:G155R;ENSP00000334733:G154R;ENSP00000378340:G153R;ENSP00000443707:G154R;ENSP00000445236:G154R	ENSP00000334733:G154R	G	-	1	0	COL4A6	107341608	1.000000	0.71417	0.253000	0.24343	0.764000	0.43329	4.614000	0.61183	2.471000	0.83476	0.600000	0.82982	GGA		0.403	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			4	97	0	0	0	1	0	4	97				
TTLL5	23093	broad.mit.edu	37	14	76241856	76241856	+	Silent	SNP	A	A	G	rs541700043	byFrequency	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:76241856A>G	ENST00000298832.9	+	22	2371	c.2166A>G	c.(2164-2166)gcA>gcG	p.A722A	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.A736A|TTLL5_ENST00000554510.1_Silent_p.A231A|TTLL5_ENST00000556893.1_Silent_p.A273A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	722					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGCGAGCATCAAATAACC	0.463													A|||	2	0.000399361	0.0	0.0029	5008	,	,		18840	0.0		0.0	False		,,,				2504	0.0					ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(2164-2166)gcA>gcG		tubulin tyrosine ligase-like family, member 5							150.0	152.0	151.0					14																	76241856		2203	4300	6503	SO:0001819	synonymous_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76241856A>G	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.2166A>G	14.37:g.76241856A>G						TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Silent_p.A231A|TTLL5_ENST00000557636.1_Silent_p.A736A|TTLL5_ENST00000556893.1_Silent_p.A273A	p.A722A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	22	2371	+			722					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	ENST00000298832.9	37	c.2166A>G	CCDS32124.1																																																																																				0.463	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		130	175	0	0	0	1	0	130	175				
GPR149	344758	broad.mit.edu	37	3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr3:154145322G>A	ENST00000389740.2	-	2	1256	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	386					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488																																						ENST00000389740.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(1156-1158)gCg>gTg		G protein-coupled receptor 149							68.0	70.0	69.0					3																	154145322		1998	4178	6176	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154145322G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1157C>T	3.37:g.154145322G>A	ENSP00000374390:p.Ala386Val						p.A386V	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	1256	-			386						Missense_Mutation	SNP	ENST00000389740.2	37	c.1157C>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260903	0.59431	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.91	5.91	0.95273	.	0.641076	0.17169	N	0.184345	T	0.38026	0.1025	L	0.50333	1.59	0.09310	N	0.999993	P	0.42161	0.772	B	0.27262	0.078	T	0.47548	-0.9109	9	0.72032	D	0.01	-2.6203	20.2985	0.98592	0.0:0.0:1.0:0.0	.	386	Q86SP6	GP149_HUMAN	V	386	.	ENSP00000374390:A386V	A	-	2	0	GPR149	155628016	0.852000	0.29690	0.010000	0.14722	0.040000	0.13550	4.991000	0.63883	2.793000	0.96121	0.655000	0.94253	GCG		0.488	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		37	6	0	0	0	1	0	37	6				
ZNF343	79175	broad.mit.edu	37	20	2464637	2464637	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:2464637G>C	ENST00000278772.4	-	6	1457	c.970C>G	c.(970-972)Cct>Gct	p.P324A	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACAAATAAGGCTTCTCTTCT	0.493																																						ENST00000278772.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(970-972)Cct>Gct		zinc finger protein 343							94.0	73.0	80.0					20																	2464637		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464637G>C	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.970C>G	20.37:g.2464637G>C	ENSP00000278772:p.Pro324Ala					RP4-734P14.4_ENST00000461548.1_Intron	p.P324A	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1457	-			324					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.970C>G	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222784	0.39300	.	.	ENSG00000088876	ENST00000278772	T	0.28255	1.62	3.2	1.2	0.21068	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43411	0.1246	M	0.84511	2.7	0.80722	D	1	P	0.51449	0.945	P	0.50708	0.648	T	0.47573	-0.9107	9	0.87932	D	0	.	6.8024	0.23758	0.2569:0.0:0.7431:0.0	.	324	Q6P1L6	ZN343_HUMAN	A	324	ENSP00000278772:P324A	ENSP00000278772:P324A	P	-	1	0	ZNF343	2412637	0.995000	0.38212	0.013000	0.15412	0.234000	0.25298	3.664000	0.54525	0.694000	0.31654	0.591000	0.81541	CCT		0.493	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		16	51	0	0	0	1	0	16	51				
RPAP3	79657	broad.mit.edu	37	12	48096531	48096531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:48096531C>T	ENST00000005386.3	-	2	208	c.93G>A	c.(91-93)tgG>tgA	p.W31*	RPAP3_ENST00000380650.4_Nonsense_Mutation_p.W31*|RPAP3_ENST00000432584.3_Intron	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	31										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TGTCTTTTTCCCAGTTTTCTA	0.323																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(91-93)tgG>tgA		RNA polymerase II associated protein 3							153.0	142.0	146.0					12																	48096531		2202	4299	6501	SO:0001587	stop_gained	79657						binding	g.chr12:48096531C>T	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.93G>A	12.37:g.48096531C>T	ENSP00000005386:p.Trp31*					RPAP3_ENST00000432584.3_Intron|RPAP3_ENST00000380650.4_Nonsense_Mutation_p.W31*	p.W31*	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			2	208	-	Lung SC(27;0.192)		31					B4DRW9|Q6PHR5	Nonsense_Mutation	SNP	ENST00000005386.3	37	c.93G>A	CCDS8753.1	.	.	.	.	.	.	.	.	.	.	C	37	6.318735	0.97471	.	.	ENSG00000005175	ENST00000005386;ENST00000380650	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9142	0.88944	0.0:1.0:0.0:0.0	.	.	.	.	X	31	.	ENSP00000005386:W31X	W	-	3	0	RPAP3	46382798	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.102000	0.77005	2.527000	0.85204	0.650000	0.86243	TGG		0.323	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		8	41	0	0	0	1	0	8	41				
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	C	G	rs201519055	byFrequency	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr22:25011062C>G	ENST00000400382.1	+	7	1105	c.350C>G	c.(349-351)aCc>aGc	p.T117S	GGT1_ENST00000406383.2_Missense_Mutation_p.T117S|GGT1_ENST00000400383.1_Missense_Mutation_p.T117S|GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	117					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.T117S(8)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCCTTTGCCACCATGTTCAAC	0.637																																						ENST00000400382.1																			8	Substitution - Missense(8)	p.T117S(8)	kidney(4)|skin(3)|lung(1)	breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40						c.(349-351)aCc>aGc		gamma-glutamyltransferase 1	Glutathione(DB00143)						25.0	26.0	26.0					22																	25011062		1913	4123	6036	SO:0001583	missense	2678				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding	g.chr22:25011062C>G	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.350C>G	22.37:g.25011062C>G	ENSP00000383232:p.Thr117Ser					GGT1_ENST00000400383.1_Missense_Mutation_p.T117S|GGT1_ENST00000248923.4_Missense_Mutation_p.T117S|GGT1_ENST00000400380.1_Missense_Mutation_p.T117S|GGT1_ENST00000406383.2_Missense_Mutation_p.T117S	p.T117S			P19440	GGT1_HUMAN			7	1105	+			117					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	c.350C>G	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.981130	0.00448	.	.	ENSG00000100031	ENST00000248923;ENST00000411974;ENST00000412658;ENST00000419133;ENST00000400382;ENST00000452551;ENST00000400383;ENST00000400380;ENST00000447416;ENST00000406383;ENST00000428855	T;T;T;T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	3.62	-7.23	0.01480	.	1.055640	0.07408	N	0.891875	T	0.04998	0.0134	N	0.21097	0.63	0.09310	N	1	B	0.02656	0.0	B	0.13407	0.009	T	0.40001	-0.9586	10	0.23302	T	0.38	-25.7648	9.3717	0.38258	0.4508:0.4439:0.1054:0.0	.	117	P19440	GGT1_HUMAN	S	117	ENSP00000248923:T117S;ENSP00000389935:T117S;ENSP00000393537:T117S;ENSP00000395271:T117S;ENSP00000383232:T117S;ENSP00000415553:T117S;ENSP00000383233:T117S;ENSP00000383231:T117S;ENSP00000400621:T117S;ENSP00000385975:T117S;ENSP00000415068:T117S	ENSP00000248923:T117S	T	+	2	0	GGT1	23341062	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-3.668000	0.00398	-2.673000	0.00413	-1.718000	0.00708	ACC		0.637	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430		2	40	0	0	0	1	0	2	40				
NAP1L1	4673	broad.mit.edu	37	12	76453623	76453623	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:76453623C>T	ENST00000261182.8	-	6	870	c.384G>A	c.(382-384)acG>acA	p.T128T	NAP1L1_ENST00000547773.1_Silent_p.T65T|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000552342.1_Silent_p.T128T|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000548044.1_Silent_p.T87T|NAP1L1_ENST00000393263.3_Silent_p.T128T|NAP1L1_ENST00000549596.1_Silent_p.T128T|NAP1L1_ENST00000535020.2_Silent_p.T128T|NAP1L1_ENST00000547993.1_5'Flank|NAP1L1_ENST00000542344.1_Silent_p.T87T	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	128					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATTCTTCTTCCGTAGGTTCAT	0.308																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(382-384)acG>acA		nucleosome assembly protein 1-like 1							86.0	82.0	83.0					12																	76453623		2201	4296	6497	SO:0001819	synonymous_variant	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76453623C>T		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.384G>A	12.37:g.76453623C>T						NAP1L1_ENST00000393263.3_Silent_p.T128T|NAP1L1_ENST00000549596.1_Silent_p.T128T|NAP1L1_ENST00000535020.2_Silent_p.T128T|NAP1L1_ENST00000548044.1_Silent_p.T87T|NAP1L1_ENST00000547773.1_Silent_p.T65T|NAP1L1_ENST00000542344.1_Silent_p.T87T|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000552342.1_Silent_p.T128T	p.T128T	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			6	870	-		Colorectal(145;0.09)	128					B3KNT8	Silent	SNP	ENST00000261182.8	37	c.384G>A	CCDS9013.1																																																																																				0.308	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		41	19	0	0	0	1	0	41	19				
TRIM51	84767	broad.mit.edu	37	11	55659044	55659044	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:55659044A>T	ENST00000449290.2	+	7	1387	c.1295A>T	c.(1294-1296)tAc>tTc	p.Y432F	TRIM51_ENST00000244891.3_Missense_Mutation_p.Y289F	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	432	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TCCCTGATATACACCATCCCC	0.453																																						ENST00000449290.2																			0											c.(1294-1296)tAc>tTc		tripartite motif-containing 51							125.0	123.0	123.0					11																	55659044		2179	4236	6415	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55659044A>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1295A>T	11.37:g.55659044A>T	ENSP00000395086:p.Tyr432Phe					TRIM51_ENST00000244891.3_Missense_Mutation_p.Y289F	p.Y432F	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1387	+			432			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1295A>T		.	.	.	.	.	.	.	.	.	.	.	14.76	2.632951	0.47049	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.62941	-0.01;-0.01	1.36	-1.84	0.07809	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.56543	0.1992	L	0.56199	1.76	0.19945	N	0.999946	P	0.45768	0.866	P	0.48770	0.589	T	0.48625	-0.9019	9	0.31617	T	0.26	.	4.0294	0.09701	0.5608:0.0:0.4392:0.0	.	432	Q9BSJ1	SPRY5_HUMAN	F	432;289	ENSP00000395086:Y432F;ENSP00000244891:Y289F	ENSP00000244891:Y289F	Y	+	2	0	SPRYD5	55415620	0.998000	0.40836	0.002000	0.10522	0.467000	0.32768	0.949000	0.29109	-0.358000	0.08162	0.136000	0.15936	TAC		0.453	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		6	119	0	0	0	1	0	6	119				
AMER3	205147	broad.mit.edu	37	2	131520982	131520982	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:131520982A>G	ENST00000423981.1	+	2	1447	c.1337A>G	c.(1336-1338)gAg>gGg	p.E446G	AMER3_ENST00000321420.4_Missense_Mutation_p.E446G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	446					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										TGCGTGTCTGAGAGTCTGTCA	0.662																																						ENST00000423981.1																			0											c.(1336-1338)gAg>gGg		APC membrane recruitment protein 3							36.0	38.0	37.0					2																	131520982		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520982A>G	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1337A>G	2.37:g.131520982A>G	ENSP00000392700:p.Glu446Gly					AMER3_ENST00000321420.4_Missense_Mutation_p.E446G	p.E446G	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	1447	+								B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1337A>G	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936637	0.52972	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.19105	2.17;2.17	5.06	3.91	0.45181	.	0.000000	0.52532	D	0.000076	T	0.16854	0.0405	L	0.32530	0.975	0.33771	D	0.623051	B	0.29716	0.255	B	0.33750	0.169	T	0.18147	-1.0346	10	0.72032	D	0.01	.	7.6273	0.28220	0.9021:0.0:0.0979:0.0	.	446	Q8N944	F123C_HUMAN	G	446	ENSP00000314914:E446G;ENSP00000392700:E446G	ENSP00000314914:E446G	E	+	2	0	FAM123C	131237452	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	4.490000	0.60319	0.886000	0.36113	0.459000	0.35465	GAG		0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	89	0	0	0	1	0	3	89				
SP100	6672	broad.mit.edu	37	2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:231314895G>A	ENST00000264052.5	+	8	1100	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SP100_ENST00000409824.1_Missense_Mutation_p.E224K|SP100_ENST00000409897.1_Missense_Mutation_p.E214K|SP100_ENST00000409112.1_Missense_Mutation_p.E249K|SP100_ENST00000340126.4_Missense_Mutation_p.E249K|SP100_ENST00000409341.1_Missense_Mutation_p.E249K|SP100_ENST00000427101.2_Missense_Mutation_p.E224K|SP100_ENST00000341950.4_Missense_Mutation_p.E249K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	249					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473																																						ENST00000264052.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25						c.(745-747)Gaa>Aaa		SP100 nuclear antigen							186.0	170.0	175.0					2																	231314895		2203	4300	6503	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231314895G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.745G>A	2.37:g.231314895G>A	ENSP00000264052:p.Glu249Lys					SP100_ENST00000409824.1_Missense_Mutation_p.E224K|SP100_ENST00000427101.2_Missense_Mutation_p.E224K|SP100_ENST00000409341.1_Missense_Mutation_p.E249K|SP100_ENST00000340126.4_Missense_Mutation_p.E249K|SP100_ENST00000341950.4_Missense_Mutation_p.E249K|SP100_ENST00000409112.1_Missense_Mutation_p.E249K|SP100_ENST00000409897.1_Missense_Mutation_p.E214K	p.E249K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	8	1100	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	249					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000264052.5	37	c.745G>A	CCDS2477.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715583	0.48622	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;D;T;T;T	0.87256	1.39;1.29;1.27;1.26;-2.23;-0.68;1.24;1.26	3.99	0.105	0.14535	.	0.480548	0.15561	N	0.255901	D	0.83321	0.5229	L	0.27053	0.805	0.09310	N	1	D;P;D;P;D;P;P;D	0.76494	0.999;0.89;0.996;0.704;0.998;0.89;0.89;0.999	P;B;P;B;P;B;B;P	0.61275	0.886;0.168;0.646;0.199;0.771;0.168;0.168;0.886	T	0.72178	-0.4369	10	0.25751	T	0.34	.	4.6347	0.12518	0.2113:0.3889:0.3998:0.0	.	224;249;214;249;249;249;224;249	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	K	249;224;224;249;249;249;249;214	ENSP00000264052:E249K;ENSP00000399389:E224K;ENSP00000387311:E224K;ENSP00000386404:E249K;ENSP00000386427:E249K;ENSP00000343023:E249K;ENSP00000342729:E249K;ENSP00000386998:E214K	ENSP00000264052:E249K	E	+	1	0	SP100	231023139	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.203000	0.17315	0.002000	0.14630	0.650000	0.86243	GAA		0.473	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		75	59	0	0	0	1	0	75	59				
PAIP1	10605	broad.mit.edu	37	5	43529961	43529961	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:43529961C>G	ENST00000306846.3	-	10	1505	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000436644.2_Missense_Mutation_p.E346Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E313Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	425					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCAAGTAATTCTTGGTATTTC	0.333																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1273-1275)Gaa>Caa		poly(A) binding protein interacting protein 1							62.0	67.0	66.0					5																	43529961		2201	4300	6501	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43529961C>G	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1273G>C	5.37:g.43529961C>G	ENSP00000302768:p.Glu425Gln					PAIP1_ENST00000436644.2_Missense_Mutation_p.E346Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E313Q|PAIP1_ENST00000514514.1_Intron	p.E425Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			10	1505	-	Lung NSC(6;2.07e-05)		425					A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1273G>C	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041279	0.75732	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000514816;ENST00000338972	T;T;T	0.34667	1.35;1.39;1.42	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.948	T	0.58086	-0.7698	10	0.87932	D	0	-18.0491	18.6833	0.91554	0.0:1.0:0.0:0.0	.	425;346	Q9H074;Q9H074-2	PAIP1_HUMAN;.	Q	425;346;26;313	ENSP00000302768:E425Q;ENSP00000387729:E346Q;ENSP00000339622:E313Q	ENSP00000302768:E425Q	E	-	1	0	PAIP1	43565718	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.831000	0.75324	2.727000	0.93392	0.484000	0.47621	GAA		0.333	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		3	120	0	0	0	1	0	3	120				
BDKRB2	624	broad.mit.edu	37	14	96706767	96706767	+	Silent	SNP	A	A	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:96706767A>G	ENST00000306005.3	+	3	298	c.102A>G	c.(100-102)caA>caG	p.Q34Q	BDKRB2_ENST00000539359.1_Silent_p.Q7Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.Q34Q|BDKRB2_ENST00000542454.2_Silent_p.Q7Q	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	34					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TCACCTTGCAAGGGCCCACTC	0.567																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(19-21)caA>caG		bradykinin receptor B2							171.0	184.0	179.0					14																	96706767		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96706767A>G	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.102A>G	14.37:g.96706767A>G						BDKRB2_ENST00000554311.1_Silent_p.Q34Q|BDKRB2_ENST00000306005.3_Silent_p.Q34Q|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.Q7Q	p.Q7Q			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3109	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	34						Silent	SNP	ENST00000306005.3	37	c.21A>G	CCDS9942.1																																																																																				0.567	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			6	459	0	0	0	1	0	6	459				
AKR1E2	83592	broad.mit.edu	37	10	4881968	4881968	+	Silent	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:4881968C>T	ENST00000298375.7	+	6	701	c.630C>T	c.(628-630)tgC>tgT	p.C210C	AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000334019.4_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	210						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)	p.C210C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCAGTTTTTGCCAATCCAGAG	0.433																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			1	Substitution - coding silent(1)	p.C210C(1)	lung(1)	NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(628-630)tgC>tgT		aldo-keto reductase family 1, member E2							218.0	179.0	193.0					10																	4881968		2203	4300	6503	SO:0001819	synonymous_variant	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4881968C>T	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.630C>T	10.37:g.4881968C>T						AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000345253.5_Intron	p.C210C	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			6	701	+			210					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	ENST00000298375.7	37	c.630C>T	CCDS31134.1																																																																																				0.433	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		4	131	0	0	0	1	0	4	131				
ZNF438	220929	broad.mit.edu	37	10	31138346	31138346	+	Missense_Mutation	SNP	G	G	A	rs199506130		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:31138346G>A	ENST00000361310.3	-	6	1317	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	ZNF438_ENST00000442986.1_Missense_Mutation_p.P330S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P320S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P320S|ZNF438_ENST00000538351.2_Missense_Mutation_p.P281S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P320S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Missense_Mutation_p.P330S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P330S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	330					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGGTGGAGGGTATCTTATCA	0.463													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20288	0.0		0.0	False		,,,				2504	0.0					ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(841-843)Ccc>Tcc		zinc finger protein 438							98.0	95.0	96.0					10																	31138346		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138346G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.988C>T	10.37:g.31138346G>A	ENSP00000354663:p.Pro330Ser					ZNF438_ENST00000444692.2_Missense_Mutation_p.P320S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P330S|ZNF438_ENST00000361310.3_Missense_Mutation_p.P330S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P320S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P330S|ZNF438_ENST00000452305.1_Missense_Mutation_p.P320S|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Missense_Mutation_p.P330S	p.P281S	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	1595	-		Prostate(175;0.0587)	330					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.841C>T	CCDS7168.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	1.449	-0.565653	0.03910	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.06687	3.27;3.27;3.27;3.27;3.27;3.27;3.27;3.27	5.62	-11.2	0.00127	.	0.803522	0.12069	N	0.502455	T	0.03827	0.0108	N	0.25647	0.755	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.08055	0.0;0.003	T	0.34551	-0.9824	10	0.10902	T	0.67	0.6895	11.386	0.49785	0.1219:0.0868:0.6198:0.1715	.	330;320	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	320;330;330;330;330;320;320;281	ENSP00000333571:P320S;ENSP00000354663:P330S;ENSP00000406934:P330S;ENSP00000412363:P330S;ENSP00000387546:P330S;ENSP00000413060:P320S;ENSP00000410898:P320S;ENSP00000445461:P281S	ENSP00000333571:P320S	P	-	1	0	ZNF438	31178352	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-3.217000	0.00553	-2.874000	0.00322	-1.087000	0.02190	CCC		0.463	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		24	226	0	0	0	1	0	24	226				
ZNF750	79755	broad.mit.edu	37	17	80789719	80789719	+	Silent	SNP	G	G	C			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:80789719G>C	ENST00000269394.3	-	2	1445	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	204					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGGGTAGCCAGGAGTGT	0.577																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(610-612)ggC>ggG		zinc finger protein 750							60.0	62.0	61.0					17																	80789719		2203	4300	6503	SO:0001819	synonymous_variant	79755					intracellular	zinc ion binding	g.chr17:80789719G>C	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.612C>G	17.37:g.80789719G>C						ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	p.G204G	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	1445	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	204					Q9H899	Silent	SNP	ENST00000269394.3	37	c.612C>G	CCDS11819.1																																																																																				0.577	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		11	99	0	0	0	1	0	11	99				
ERICH3	127254	broad.mit.edu	37	1	75037595	75037595	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:75037595C>T	ENST00000326665.5	-	14	4017	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1267	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTTAGCACGACATCCACT	0.577																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(3799-3801)Gtg>Atg		chromosome 1 open reading frame 173							151.0	129.0	136.0					1																	75037595		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037595C>T																												ENST00000326665.5:c.3799G>A	1.37:g.75037595C>T	ENSP00000322609:p.Val1267Met					C1orf173_ENST00000433746.2_5'UTR	p.V1267M	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	4017	-			1267			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3799G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	6.888	0.533371	0.13188	.	.	ENSG00000178965	ENST00000326665	T	0.11930	2.73	4.71	-9.42	0.00610	.	.	.	.	.	T	0.01061	0.0035	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.49615	-0.8921	9	0.42905	T	0.14	4.0793	6.0683	0.19875	0.0991:0.462:0.3007:0.1382	.	1267	Q5RHP9	CA173_HUMAN	M	1267	ENSP00000322609:V1267M	ENSP00000322609:V1267M	V	-	1	0	C1orf173	74810183	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.372000	0.01073	-1.443000	0.01953	-1.166000	0.01754	GTG		0.577	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			6	198	0	0	0	1	0	6	198				
ASPM	259266	broad.mit.edu	37	1	197086968	197086968	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:197086968T>G	ENST00000367409.4	-	17	4272	c.4016A>C	c.(4015-4017)aAa>aCa	p.K1339T	ASPM_ENST00000294732.7_Missense_Mutation_p.K1339T|ASPM_ENST00000367408.1_Missense_Mutation_p.K589T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1339					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTCCTTTTTTAACATTAA	0.289																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(4015-4017)aAa>aCa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							118.0	131.0	126.0					1																	197086968		2201	4298	6499	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197086968T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4016A>C	1.37:g.197086968T>G	ENSP00000356379:p.Lys1339Thr					ASPM_ENST00000367408.1_Missense_Mutation_p.K589T|ASPM_ENST00000294732.7_Missense_Mutation_p.K1339T	p.K1339T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			17	4272	-			1339					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.4016A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	13.32	2.202663	0.38905	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.81078	-0.62;-1.45;-1.45	5.53	1.91	0.25777	.	0.444670	0.23230	N	0.050471	D	0.87597	0.6217	M	0.87269	2.87	0.28404	N	0.918482	D;D	0.67145	0.961;0.996	P;D	0.63703	0.617;0.917	T	0.79921	-0.1599	10	0.49607	T	0.09	.	8.0197	0.30402	0.0:0.3131:0.0:0.6869	.	1339;1339	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	T	1339;1339;589	ENSP00000356379:K1339T;ENSP00000294732:K1339T;ENSP00000356378:K589T	ENSP00000294732:K1339T	K	-	2	0	ASPM	195353591	0.996000	0.38824	0.119000	0.21687	0.182000	0.23217	1.572000	0.36461	0.402000	0.25451	0.455000	0.32223	AAA		0.289	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	298	0	0	0	1	0	6	298				
PELP1	27043	broad.mit.edu	37	17	4578457	4578457	+	Silent	SNP	C	C	G			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:4578457C>G	ENST00000574876.1	-	11	1208	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	PELP1_ENST00000436683.2_Silent_p.L250L|PELP1_ENST00000301396.4_Silent_p.L541L|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Silent_p.L395L|PELP1_ENST00000572293.1_Silent_p.L447L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	397					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCGGCCGATCAGGATCCCAA	0.607																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1621-1623)ctG>ctC		proline, glutamate and leucine rich protein 1							31.0	34.0	33.0					17																	4578457		1962	4142	6104	SO:0001819	synonymous_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4578457C>G		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1191G>C	17.37:g.4578457C>G						PELP1_ENST00000574876.1_Silent_p.L397L|PELP1_ENST00000572293.1_Silent_p.L447L|PELP1_ENST00000269230.7_Silent_p.L395L|PELP1_ENST00000436683.2_Silent_p.L250L	p.L541L			Q8IZL8	PELP1_HUMAN			11	1848	-			397					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	c.1623G>C	CCDS58503.1																																																																																				0.607	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		7	22	0	0	0	1	0	7	22				
CHD5	26038	broad.mit.edu	37	1	6202211	6202212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:6202211_6202212insA	ENST00000262450.3	-	15	2511_2512	c.2412_2413insT	c.(2410-2415)agtgggfs	p.G805fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCTTCCCACTCCGAATGG	0.599																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(2410-2415)agggaafs		chromodomain helicase DNA binding protein 5																																				SO:0001589	frameshift_variant	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202211_6202212insA	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2413dupT	1.37:g.6202212_6202212dupA	ENSP00000262450:p.Gly805fs					CHD5_ENST00000378021.1_5'UTR	p.RE804fs	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	15	2511_2512	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	804			Helicase ATP-binding.		A8KAP8|A8MQ44|D3DSH9|O60740	Frame_Shift_Ins	INS	ENST00000262450.3	37	c.2412_2413insT	CCDS57.1																																																																																				0.599	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		115	202						115	202	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	4						4	4	---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125498877	125498880	+	IGR	DEL	TTTA	TTTA	-			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:125498877_125498880delTTTA	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Frame_Shift_Del_p.VL329fs|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCACCTGTTTTATTTTTTATTT	0.412																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(985-990)gtfs		ring finger protein 139																																				SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498877_125498880delTTTA	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498877_125498880delTTTA							p.VL329fs	NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1359_1362	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		329					B2R5J0|Q8TD02|Q9BY40	Frame_Shift_Del	DEL	ENST00000276692.6	37	c.987_990delTTTA	CCDS6351.1																																																																																				0.412	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		53	506						53	506	---	---	---	---
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	lincRNA	INS	-	-	TCTTCCTCCTCC	rs71045240|rs71265059		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1				long intergenic non-protein coding RNA 987																		caccatcaccttcttcctcccc	0.545														354	0.0706869	0.0272	0.1455	5008	,	,		14189	0.0813		0.0706	False		,,,				2504	0.0654					ENST00000427111.3																			0																																																			0							g.chr12:9392739_9392740insTCTTCCTCCTCC	AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9392739_9392740insTCTTCCTCCTCC								NR_036466.1						0	141_142	+									RNA	INS	ENST00000427111.3	37																																																																																						0.545	LINC00987-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000399347.1			5	6						5	6	---	---	---	---
APCDD1L-AS1	149773	broad.mit.edu	37	20	57104949	57104949	+	RNA	DEL	T	T	-	rs11349943	byFrequency	TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:57104949delT	ENST00000427140.1	+	0	826					NR_034147.1				APCDD1L antisense RNA 1 (head to head)																		gggcctggagttttttttttt	0.338													|||unknown(LONG_INSERTION)	2200	0.439297	0.584	0.4337	5008	,	,		16087	0.2093		0.5268	False		,,,				2504	0.3947					ENST00000427140.1																			0																																																			0							g.chr20:57104949delT	AI077602, AK054637		20q13.32	2012-10-17	2012-10-17		ENSG00000231290	ENSG00000231290		"""Long non-coding RNAs"""	27152	non-coding RNA	RNA, long non-coding			"""APCDD1L antisense RNA 1 (non-protein coding)"", ""APCDD1L antisense RNA 1"""				Standard	NR_034147		Approved		uc002xzf.1		OTTHUMG00000032847		20.37:g.57104949delT								NR_034147.1						0	826	+									RNA	DEL	ENST00000427140.1	37																																																																																						0.338	APCDD1L-AS1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000079883.2	NR_034147		3	6						3	6	---	---	---	---
