#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
NAPSA	9476	broad.mit.edu	37	19	50868849	50868849	+	Silent	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:50868849C>T	ENST00000253719.2	-	1	238	c.30G>A	c.(28-30)ctG>ctA	p.L10L	NR1H2_ENST00000542413.1_Intron|CTB-191K22.6_ENST00000597049.1_RNA|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	10					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		gcagcagcagcaggggttgca	0.602																																						ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(28-30)ctG>ctA		napsin A aspartic peptidase							39.0	36.0	37.0					19																	50868849		2203	4300	6503	SO:0001819	synonymous_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50868849C>T	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.30G>A	19.37:g.50868849C>T						NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	p.L10L	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	1	238	-		all_neural(266;0.057)	10					Q8WWD9	Silent	SNP	ENST00000253719.2	37	c.30G>A	CCDS12794.1																																																																																				0.602	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		3	16	0	0	0	1	0	3	16				
AOC2	314	broad.mit.edu	37	17	40996957	40996957	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:40996957C>T	ENST00000253799.3	+	1	341	c.314C>T	c.(313-315)gCc>gTc	p.A105V	AOC2_ENST00000452774.2_Missense_Mutation_p.A105V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	105					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AAGGCTGCAGCCCTGGCCCAC	0.682																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(313-315)gCc>gTc		amine oxidase, copper containing 2 (retina-specific)							35.0	41.0	39.0					17																	40996957		2202	4297	6499	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40996957C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.314C>T	17.37:g.40996957C>T	ENSP00000253799:p.Ala105Val					AOC2_ENST00000452774.2_Missense_Mutation_p.A105V	p.A105V	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	341	+		Breast(137;0.000143)	105					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.314C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	7.398	0.632253	0.14322	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.18016	2.24;2.24	5.28	5.28	0.74379	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.177544	0.49305	D	0.000148	T	0.09468	0.0233	N	0.11201	0.11	0.38041	D	0.935478	P;B	0.39737	0.685;0.389	B;B	0.44315	0.446;0.421	T	0.17471	-1.0368	10	0.02654	T	1	-12.5735	9.2157	0.37346	0.0:0.8381:0.0:0.1619	.	105;105	O75106;O75106-2	AOC2_HUMAN;.	V	105	ENSP00000253799:A105V;ENSP00000406134:A105V	ENSP00000253799:A105V	A	+	2	0	AOC2	38250483	0.998000	0.40836	1.000000	0.80357	0.799000	0.45148	1.745000	0.38278	2.745000	0.94114	0.655000	0.94253	GCC		0.682	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		18	52	0	0	0	1	0	18	52				
JAK1	3716	broad.mit.edu	37	1	65311267	65311267	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:65311267T>A	ENST00000342505.4	-	15	2292	c.2044A>T	c.(2044-2046)Aaa>Taa	p.K682*	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	682	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACATCGCTTTTCCGGTGCATG	0.488			Mis		ALL																																	ENST00000342505.4				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2044-2046)Aaa>Taa		Janus kinase 1							145.0	151.0	149.0					1																	65311267		1951	4150	6101	SO:0001587	stop_gained	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65311267T>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.2044A>T	1.37:g.65311267T>A	ENSP00000343204:p.Lys682*					JAK1_ENST00000465376.1_5'UTR	p.K682*	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	15	2292	-			682			Protein kinase 1.		Q59GQ2|Q9UD26	Nonsense_Mutation	SNP	ENST00000342505.4	37	c.2044A>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	T	41	8.652790	0.98901	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-6.8845	15.526	0.75905	0.0:0.0:0.0:1.0	.	.	.	.	X	682	.	ENSP00000343204:K682X	K	-	1	0	JAK1	65083855	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	4.810000	0.62598	2.308000	0.77769	0.533000	0.62120	AAA		0.488	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227		9	166	0	0	0	1	0	9	166				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	86	0	0	0	1	0	4	86				
SLC47A2	146802	broad.mit.edu	37	17	19584867	19584867	+	Silent	SNP	G	G	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:19584867G>T	ENST00000325411.5	-	14	1439	c.1389C>A	c.(1387-1389)gtC>gtA	p.V463V	SLC47A2_ENST00000350657.5_Silent_p.V441V|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	463					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	TTCTCATTCTGACCACAAAGG	0.537																																						ENST00000350657.5																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9						c.(1321-1323)gtC>gtA		solute carrier family 47 (multidrug and toxin extrusion), member 2							82.0	72.0	75.0					17																	19584867		2203	4300	6503	SO:0001819	synonymous_variant	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19584867G>T	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1389C>A	17.37:g.19584867G>T						SLC47A2_ENST00000325411.5_Silent_p.V463V|SLC47A2_ENST00000463318.1_5'UTR	p.V441V	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN			15	1497	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		463					A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	ENST00000325411.5	37	c.1323C>A	CCDS11211.1																																																																																				0.537	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2	NM_152908		13	22	1	0	4.3838e-07	1	4.60861e-07	13	22				
ANK3	288	broad.mit.edu	37	10	61835916	61835916	+	Missense_Mutation	SNP	G	G	A	rs565896400		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr10:61835916G>A	ENST00000280772.2	-	37	4914	c.4723C>T	c.(4723-4725)Cgg>Tgg	p.R1575W	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1575	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATTGTCCGAAAGGATCTA	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		21007	0.0		0.0	False		,,,				2504	0.001					ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(4723-4725)Cgg>Tgg		ankyrin 3, node of Ranvier (ankyrin G)							199.0	179.0	186.0					10																	61835916		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61835916G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4723C>T	10.37:g.61835916G>A	ENSP00000280772:p.Arg1575Trp					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R1575W	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	4914	-			1575			Ser-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4723C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.216264	0.58452	.	.	ENSG00000151150	ENST00000280772	T	0.74526	-0.85	5.78	5.78	0.91487	.	0.000000	0.38492	N	0.001674	D	0.85427	0.5694	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84272	0.0489	10	0.48119	T	0.1	.	20.0006	0.97406	0.0:0.0:1.0:0.0	.	1575	Q12955	ANK3_HUMAN	W	1575	ENSP00000280772:R1575W	ENSP00000280772:R1575W	R	-	1	2	ANK3	61505922	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.712000	0.74681	2.734000	0.93682	0.591000	0.81541	CGG		0.458	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		4	185	0	0	0	1	0	4	185				
C14orf37	145407	broad.mit.edu	37	14	58604793	58604793	+	Missense_Mutation	SNP	G	G	C	rs183669375		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr14:58604793G>C	ENST00000267485.7	-	2	1478	c.1284C>G	c.(1282-1284)aaC>aaG	p.N428K	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	428						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ACAGGGCATCGTTTTCCTTGG	0.413																																						ENST00000267485.7																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						c.(1282-1284)aaC>aaG		chromosome 14 open reading frame 37							87.0	87.0	87.0					14																	58604793		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58604793G>C		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1284C>G	14.37:g.58604793G>C	ENSP00000267485:p.Asn428Lys					C14orf37_ENST00000334342.5_5'UTR	p.N428K	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN			2	1478	-			428					A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.1284C>G	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	G	9.829	1.187802	0.21954	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.16743	2.32	5.86	-7.6	0.01303	.	1.146940	0.06262	N	0.694007	T	0.12475	0.0303	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.17038	0.003;0.02;0.003;0.003	B;B;B;B	0.17979	0.004;0.02;0.004;0.004	T	0.34625	-0.9821	10	0.42905	T	0.14	-0.1022	4.1989	0.10457	0.3879:0.346:0.1872:0.0789	.	466;428;428;428	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	K	428;466	ENSP00000267485:N428K	ENSP00000267485:N428K	N	-	3	2	C14orf37	57674546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.450000	0.02390	-1.530000	0.01751	-0.868000	0.02995	AAC		0.413	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		12	81	0	0	0	1	0	12	81				
ADAMTS16	170690	broad.mit.edu	37	5	5146494	5146494	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr5:5146494G>C	ENST00000274181.7	+	3	565	c.427G>C	c.(427-429)Gac>Cac	p.D143H	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D143H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	143					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D143N(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCGCCAGAGGACTTCTGTTT	0.527																																						ENST00000274181.7																			2	Substitution - Missense(2)	p.D143N(2)	large_intestine(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(427-429)Gac>Cac		ADAM metallopeptidase with thrombospondin type 1 motif, 16							119.0	115.0	117.0					5																	5146494		1909	4137	6046	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5146494G>C	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.427G>C	5.37:g.5146494G>C	ENSP00000274181:p.Asp143His					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.D143H|CTD-2297D10.1_ENST00000514848.1_RNA	p.D143H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			3	565	+			143					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.427G>C	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	9.546	1.114557	0.20795	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.06608	3.28;3.28	5.74	4.85	0.62838	Peptidase M12B, propeptide (1);	0.120606	0.52532	D	0.000066	T	0.22205	0.0535	M	0.70842	2.15	0.49915	D	0.999836	D;B;B	0.65815	0.995;0.005;0.003	D;B;B	0.64321	0.924;0.049;0.038	T	0.00822	-1.1552	10	0.44086	T	0.13	.	15.7901	0.78350	0.0:0.1369:0.8631:0.0	.	143;143;143	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	H	143	ENSP00000274181:D143H;ENSP00000421631:D143H	ENSP00000274181:D143H	D	+	1	0	ADAMTS16	5199494	1.000000	0.71417	0.380000	0.26093	0.054000	0.15201	4.651000	0.61447	1.507000	0.48752	0.563000	0.77884	GAC		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		35	108	0	0	0	1	0	35	108				
DCC	1630	broad.mit.edu	37	18	51013194	51013194	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:51013194C>T	ENST00000442544.2	+	26	4380	c.3764C>T	c.(3763-3765)aCg>aTg	p.T1255M	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.T890M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1255					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGGTGCCAACGCTAGAAAGT	0.512																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3763-3765)aCg>aTg		deleted in colorectal carcinoma							114.0	103.0	107.0					18																	51013194		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013194C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3764C>T	18.37:g.51013194C>T	ENSP00000389140:p.Thr1255Met					DCC_ENST00000581580.1_Missense_Mutation_p.T890M|RP11-671P2.1_ENST00000582064.1_RNA	p.T1255M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4380	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1255						Missense_Mutation	SNP	ENST00000442544.2	37	c.3764C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776825	0.31411	.	.	ENSG00000187323	ENST00000442544	T	0.53640	0.61	5.34	5.34	0.76211	Neogenin, C-terminal (1);	0.075451	0.53938	D	0.000060	T	0.61726	0.2370	L	0.44542	1.39	0.53005	D	0.999968	D	0.89917	1.0	D	0.67725	0.953	T	0.63963	-0.6518	10	0.72032	D	0.01	-9.2951	17.8261	0.88666	0.0:1.0:0.0:0.0	.	1255	P43146	DCC_HUMAN	M	1255	ENSP00000389140:T1255M	ENSP00000389140:T1255M	T	+	2	0	DCC	49267192	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	6.474000	0.73578	2.499000	0.84300	0.462000	0.41574	ACG		0.512	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		12	53	0	0	0	1	0	12	53				
SERPINB13	5275	broad.mit.edu	37	18	61256912	61256912	+	Missense_Mutation	SNP	C	C	T	rs61733412	byFrequency	TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:61256912C>T	ENST00000344731.5	+	3	290	c.188C>T	c.(187-189)aCg>aTg	p.T63M	SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	63					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAAAGAGACGAAGAGCTCA	0.418													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17214	0.0		0.001	False		,,,				2504	0.0					ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(187-189)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 13		C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	71.0	62.0	65.0		188	-1.0	0.0	18	dbSNP_129	65	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SERPINB13	NM_012397.3	81	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	benign	63/392	61256912	7,12999	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61256912C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.188C>T	18.37:g.61256912C>T	ENSP00000341584:p.Thr63Met					SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M	p.T63M	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			3	290	+			63					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.188C>T	CCDS11985.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	3.077	-0.189746	0.06299	6.81E-4	4.65E-4	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	T;T;D;D	0.84589	-1.01;2.75;-1.64;-1.87	4.33	-0.973	0.10297	Serpin domain (3);	6.420240	0.00166	N	0.000012	D	0.82559	0.5063	L	0.53729	1.69	0.09310	N	1	B;B	0.33807	0.426;0.036	B;B	0.39068	0.289;0.022	T	0.66126	-0.6001	10	0.54805	T	0.06	.	2.8988	0.05699	0.3294:0.3802:0.0:0.2904	rs61733412	63;63	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	M	93;63;63;63;42	ENSP00000388300:T93M;ENSP00000269489:T63M;ENSP00000341584:T63M;ENSP00000391156:T42M	ENSP00000269489:T63M	T	+	2	0	SERPINB13	59407892	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.143000	0.10296	-0.029000	0.13827	-0.126000	0.14955	ACG		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		3	16	0	0	0	1	0	3	16				
IRF4	3662	broad.mit.edu	37	6	398917	398917	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr6:398917G>A	ENST00000380956.4	+	6	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	243					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		1	Substitution - Missense(1)	p.E243K(1)	endometrium(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(727-729)Gaa>Aaa		interferon regulatory factor 4							59.0	58.0	58.0					6																	398917		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:398917G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.727G>A	6.37:g.398917G>A	ENSP00000370343:p.Glu243Lys						p.E243K	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	6	853	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	243					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.727G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672905	0.67928	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.97256	-4.31	5.3	5.3	0.74995	SMAD domain-like (1);	0.000000	0.85682	D	0.000000	D	0.92721	0.7686	L	0.50333	1.59	0.80722	D	1	B;B;P;B	0.34864	0.308;0.448;0.473;0.206	B;B;B;B	0.25614	0.047;0.058;0.062;0.048	D	0.92309	0.5856	10	0.29301	T	0.29	-21.3648	18.9759	0.92736	0.0:0.0:1.0:0.0	.	243;273;242;243	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	K	243;272	ENSP00000370343:E243K	ENSP00000370343:E243K	E	+	1	0	IRF4	343917	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	7.468000	0.80943	2.474000	0.83562	0.650000	0.86243	GAA		0.592	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			6	25	0	0	0	1	0	6	25				
FGD2	221472	broad.mit.edu	37	6	36995755	36995755	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr6:36995755T>G	ENST00000274963.8	+	16	1955	c.1784T>G	c.(1783-1785)cTg>cGg	p.L595R		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	595	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCCCCCTGCTGGGCTACCAG	0.637																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1783-1785)cTg>cGg		FYVE, RhoGEF and PH domain containing 2							43.0	38.0	40.0					6																	36995755		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36995755T>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1784T>G	6.37:g.36995755T>G	ENSP00000274963:p.Leu595Arg						p.L595R	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			16	1955	+			595			PH 2.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1784T>G	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.032424	0.75504	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.63744	-0.06	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.34133	N	0.004231	T	0.71978	0.3404	M	0.73372	2.23	0.48185	D	0.999602	D	0.89917	1.0	D	0.71184	0.972	T	0.76490	-0.2940	10	0.66056	D	0.02	-22.2275	14.8518	0.70303	0.0:0.0:0.0:1.0	.	595	Q7Z6J4	FGD2_HUMAN	R	595;223	ENSP00000274963:L595R	ENSP00000274963:L595R	L	+	2	0	FGD2	37103733	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.750000	0.68712	1.989000	0.58080	0.460000	0.39030	CTG		0.637	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		11	33	0	0	0	1	0	11	33				
SMC6	79677	broad.mit.edu	37	2	17851748	17851748	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr2:17851748G>A	ENST00000448223.2	-	26	3274	c.3005C>T	c.(3004-3006)tCc>tTc	p.S1002F	SMC6_ENST00000351948.4_Missense_Mutation_p.S1002F|SMC6_ENST00000381272.4_Missense_Mutation_p.S1028F|SMC6_ENST00000402989.1_Missense_Mutation_p.S1002F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1002	Ala/Asp-rich (DA-box).				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGACCACAGGGAAAGAATAAA	0.383																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(3004-3006)tCc>tTc		structural maintenance of chromosomes 6							87.0	83.0	85.0					2																	17851748		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17851748G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.3005C>T	2.37:g.17851748G>A	ENSP00000404092:p.Ser1002Phe					SMC6_ENST00000351948.4_Missense_Mutation_p.S1002F|SMC6_ENST00000402989.1_Missense_Mutation_p.S1002F|SMC6_ENST00000381272.4_Missense_Mutation_p.S1028F	p.S1002F	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			26	3274	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		1002			Ala/Asp-rich (DA-box).		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.3005C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507933	0.85282	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989	T;T;T;T	0.69435	-0.4;-0.4;3.2;-0.4	5.88	5.88	0.94601	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82301	-0.0525	10	0.87932	D	0	.	20.2187	0.98312	0.0:0.0:1.0:0.0	.	1002	Q96SB8	SMC6_HUMAN	F	1002;1002;1028;1002	ENSP00000404092:S1002F;ENSP00000323439:S1002F;ENSP00000370672:S1028F;ENSP00000384539:S1002F	ENSP00000323439:S1002F	S	-	2	0	SMC6	17715229	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	9.476000	0.97823	2.780000	0.95670	0.655000	0.94253	TCC		0.383	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		10	36	0	0	0	1	0	10	36				
PDILT	204474	broad.mit.edu	37	16	20386194	20386194	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr16:20386194C>T	ENST00000302451.4	-	5	879	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	211					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CGCCCAATGACATTGCCAATC	0.433																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(631-633)Gtc>Atc		protein disulfide isomerase-like, testis expressed							191.0	163.0	172.0					16																	20386194		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386194C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.631G>A	16.37:g.20386194C>T	ENSP00000305465:p.Val211Ile						p.V211I	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			5	879	-			211					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.631G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	7.674	0.687622	0.14973	.	.	ENSG00000169340	ENST00000302451	T	0.34859	1.34	4.15	-2.74	0.05932	Thioredoxin-like fold (2);	0.697598	0.14714	N	0.302773	T	0.13756	0.0333	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.20955	0.032	T	0.25916	-1.0118	10	0.18276	T	0.48	.	5.3174	0.15862	0.1512:0.3152:0.0:0.5336	.	211	Q8N807	PDILT_HUMAN	I	211	ENSP00000305465:V211I	ENSP00000305465:V211I	V	-	1	0	PDILT	20293695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.154000	0.03166	-0.474000	0.06862	-0.793000	0.03317	GTC		0.433	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		33	52	0	0	0	1	0	33	52				
TRRAP	8295	broad.mit.edu	37	7	98574218	98574218	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr7:98574218C>T	ENST00000359863.4	+	54	8260	c.8051C>T	c.(8050-8052)cCg>cTg	p.P2684L	TRRAP_ENST00000355540.3_Missense_Mutation_p.P2666L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2666L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2684					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTGCGTGCCGCCAATCCCC	0.592																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(8050-8052)cCg>cTg		transformation/transcription domain-associated protein							73.0	67.0	69.0					7																	98574218		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98574218C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.8051C>T	7.37:g.98574218C>T	ENSP00000352925:p.Pro2684Leu					TRRAP_ENST00000355540.3_Missense_Mutation_p.P2666L|TRRAP_ENST00000446306.3_Missense_Mutation_p.P2666L	p.P2684L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		54	8260	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2684					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.8051C>T	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.044632|5.044632	0.93685|0.93685	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.48522|.	0.81;0.81|.	5.92|5.92	5.92|5.92	0.95590|0.95590	Armadillo-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83709|0.83709	0.5313|0.5313	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	D|D	0.83892|0.83892	0.0285|0.0285	10|5	0.87932|.	D|.	0|.	.|.	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2666;2405;2684|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|C	2684;2666;2665|2406	ENSP00000352925:P2684L;ENSP00000347733:P2666L|.	ENSP00000347733:P2666L|.	P|R	+|+	2|1	0|0	TRRAP|TRRAP	98412154|98412154	1.000000|1.000000	0.71417|0.71417	0.847000|0.847000	0.33407|0.33407	0.626000|0.626000	0.37791|0.37791	7.568000|7.568000	0.82369|0.82369	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	39	0	0	0	1	0	11	39				
CACNA2D2	9254	broad.mit.edu	37	3	50421711	50421711	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:50421711C>A	ENST00000479441.1	-	6	567	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D121Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D190Y			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	190					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCGATGAAGTCCAGCCTTAGG	0.537																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(568-570)Gac>Tac		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						334.0	309.0	317.0					3																	50421711		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50421711C>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.568G>T	3.37:g.50421711C>A	ENSP00000418081:p.Asp190Tyr					CACNA2D2_ENST00000479441.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.D190Y|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.D121Y|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.D190Y	p.D190Y			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	6	741	-			190					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.568G>T	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385652	0.82792	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.06068	3.36;3.35;3.35;3.35;3.36;3.35;3.35;3.35	5.53	5.53	0.82687	VWA N-terminal (1);	0.055873	0.64402	D	0.000001	T	0.19248	0.0462	L	0.46157	1.445	0.58432	D	0.999996	D;D	0.58970	0.984;0.98	P;P	0.62491	0.903;0.891	T	0.00069	-1.2138	10	0.56958	D	0.05	-33.5243	19.4635	0.94929	0.0:1.0:0.0:0.0	.	190;190	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	Y	190;190;190;121;190;190;190;190	ENSP00000407393:D190Y;ENSP00000404631:D190Y;ENSP00000266039:D190Y;ENSP00000354228:D121Y;ENSP00000390526:D190Y;ENSP00000378519:D190Y;ENSP00000390329:D190Y;ENSP00000418081:D190Y	ENSP00000266039:D190Y	D	-	1	0	CACNA2D2	50396715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.212000	0.77941	2.599000	0.87857	0.563000	0.77884	GAC		0.537	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		62	203	1	0	1.02016e-41	1	1.10069e-41	62	203				
ELOVL6	79071	broad.mit.edu	37	4	111119469	111119469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr4:111119469A>T	ENST00000394607.3	-	2	186	c.23T>A	c.(22-24)tTa>tAa	p.L8*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.L8*|ELOVL6_ENST00000506461.1_5'UTR			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	8					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ATATTCTTGTAAAGTCAACAC	0.423																																						ENST00000394607.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(22-24)tTa>tAa		ELOVL fatty acid elongase 6							209.0	182.0	191.0					4																	111119469		2203	4300	6503	SO:0001587	stop_gained	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:111119469A>T	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.23T>A	4.37:g.111119469A>T	ENSP00000378105:p.Leu8*					ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.L8*|ELOVL6_ENST00000506461.1_5'UTR	p.L8*			Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	2	186	-			8					Q4W5L0|Q8NCD1	Nonsense_Mutation	SNP	ENST00000394607.3	37	c.23T>A	CCDS3690.1	.	.	.	.	.	.	.	.	.	.	A	39	7.353829	0.98231	.	.	ENSG00000170522	ENST00000394607;ENST00000302274;ENST00000506625;ENST00000503885	.	.	.	5.25	5.25	0.73442	.	0.439409	0.21144	N	0.079427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9211	14.9968	0.71439	1.0:0.0:0.0:0.0	.	.	.	.	X	8	.	ENSP00000304736:L8X	L	-	2	0	ELOVL6	111338918	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.114000	0.89570	2.205000	0.71048	0.533000	0.62120	TTA		0.423	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		33	87	0	0	0	1	0	33	87				
PTX3	5806	broad.mit.edu	37	3	157154853	157154853	+	Splice_Site	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423																																						ENST00000295927.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10						c.e1+1		pentraxin 3, long							199.0	186.0	190.0					3																	157154853		2203	4300	6503	SO:0001630	splice_region_variant	5806				inflammatory response	extracellular region		g.chr3:157154853G>A	X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.130+1G>A	3.37:g.157154853G>A						VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron		NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		1	275	+								B2R6T6|Q38M82	Splice_Site	SNP	ENST00000295927.3	37		CCDS3180.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688077	0.68271	.	.	ENSG00000163661	ENST00000295927	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4826	0.84162	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTX3	158637547	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.929000	0.70096	2.322000	0.78497	0.455000	0.32223	.		0.423	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852	Intron	37	62	0	0	0	1	0	37	62				
TNR	7143	broad.mit.edu	37	1	175362981	175362981	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:175362981C>T	ENST00000367674.2	-	6	1999	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	TNR_ENST00000263525.2_Missense_Mutation_p.V431M			Q92752	TENR_HUMAN	tenascin R	431	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGCACCTCCACGGTGGTCTCT	0.488																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1291-1293)Gtg>Atg		tenascin R							202.0	197.0	199.0					1																	175362981		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175362981C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1291G>A	1.37:g.175362981C>T	ENSP00000356646:p.Val431Met					TNR_ENST00000263525.2_Missense_Mutation_p.V431M	p.V431M	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			6	1999	-	Renal(580;0.146)		431			Fibronectin type-III 2.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1291G>A	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835372|4.835372	0.91117|0.91117	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.59772	.|0.24;0.24	4.75|4.75	4.75|4.75	0.60458|0.60458	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.77003|0.77003	0.4067|0.4067	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74674	.|0.984	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.20046	.|T	.|0.44	.|.	17.7092|17.7092	0.88317|0.88317	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|431	.|Q92752	.|TENR_HUMAN	H|M	155|431	.|ENSP00000356646:V431M;ENSP00000263525:V431M	.|ENSP00000263525:V431M	R|V	-|-	2|1	0|0	TNR|TNR	173629604|173629604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.338000|7.338000	0.79269|0.79269	2.343000|2.343000	0.79666|0.79666	0.643000|0.643000	0.83706|0.83706	CGT|GTG		0.488	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		43	60	0	0	0	1	0	43	60				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	85	0	0	0	1	0	4	85				
COL11A1	1301	broad.mit.edu	37	1	103412512	103412512	+	Splice_Site	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:103412512C>T	ENST00000370096.3	-	42	3481	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S	COL11A1_ENST00000512756.1_Splice_Site_p.G941S|COL11A1_ENST00000358392.2_Splice_Site_p.G1069S|COL11A1_ENST00000353414.4_Splice_Site_p.G1018S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1057	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGTGAGCCCTAGTATACA	0.448																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e42-1		collagen, type XI, alpha 1							29.0	28.0	28.0					1																	103412512		2202	4300	6502	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412512C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3169-1G>A	1.37:g.103412512C>T						COL11A1_ENST00000370096.3_Splice_Site_p.G1057_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G941_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1018_splice	p.G1069_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3522	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1057			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37	c.3204_splice	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017066	0.75161	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99329	-5.51;-5.51;-5.51;-5.75	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.99645	0.9869	H	0.94222	3.51	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.998;0.999	D	0.97909	1.0307	10	0.87932	D	0	.	19.0317	0.92960	0.0:1.0:0.0:0.0	.	941;1018;1069;1057;277	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	1057;1069;1018;277;941	ENSP00000359114:G1057S;ENSP00000351163:G1069S;ENSP00000302551:G1018S;ENSP00000426533:G941S	ENSP00000302551:G1018S	G	-	1	0	COL11A1	103185100	1.000000	0.71417	0.998000	0.56505	0.686000	0.39977	7.722000	0.84778	2.580000	0.87095	0.650000	0.86243	GGC		0.448	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	7	13	0	0	0	1	0	7	13				
ESM1	11082	broad.mit.edu	37	5	54281336	54281336	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr5:54281336C>T	ENST00000381405.4	-	1	155	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ESM1_ENST00000381403.4_Missense_Mutation_p.V4I|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	4					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			AGCAGCAAGACGCTCTTCATG	0.597																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(10-12)Gtc>Atc		endothelial cell-specific molecule 1							34.0	33.0	33.0					5																	54281336		2203	4300	6503	SO:0001583	missense	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281336C>T	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.10G>A	5.37:g.54281336C>T	ENSP00000370812:p.Val4Ile					ESM1_ENST00000381403.4_Missense_Mutation_p.V4I|ESM1_ENST00000598310.1_Intron	p.V4I	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	155	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	4					B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	c.10G>A	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.820152	0.00595	.	.	ENSG00000164283	ENST00000381405;ENST00000381403	.	.	.	5.66	-1.23	0.09465	.	0.589370	0.17990	N	0.155250	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B;B	0.27679	0.185;0.113	B;B	0.14023	0.01;0.01	T	0.21621	-1.0240	9	0.17832	T	0.49	-8.5076	4.0978	0.09998	0.2764:0.4793:0.1404:0.104	.	4;4	Q3V4E3;Q9NQ30	.;ESM1_HUMAN	I	4	.	ENSP00000370810:V4I	V	-	1	0	ESM1	54317093	0.078000	0.21339	0.853000	0.33588	0.061000	0.15899	-0.147000	0.10234	-0.598000	0.05806	-2.589000	0.00165	GTC		0.597	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		7	21	0	0	0	1	0	7	21				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		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.chr17:7577141C>A	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.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	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_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V	p.G266V	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)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	8	1	0	0.115264	1	0.115264	3	8				
CDHR1	92211	broad.mit.edu	37	10	85965592	85965592	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr10:85965592G>A	ENST00000372117.3	+	10	975	c.872G>A	c.(871-873)gGa>gAa	p.G291E	CDHR1_ENST00000440770.2_Missense_Mutation_p.G50E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G291E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	291	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGGAACGATGGAGCCTTTGAA	0.572											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(871-873)gGa>gAa		cadherin-related family member 1							76.0	72.0	73.0					10																	85965592		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85965592G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.872G>A	10.37:g.85965592G>A	ENSP00000361189:p.Gly291Glu		OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1240	CDHR1_ENST00000440770.2_Missense_Mutation_p.G50E|CDHR1_ENST00000332904.3_Missense_Mutation_p.G291E	p.G291E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			10	975	+			291			Cadherin 3.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.872G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193168	0.38707	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.53423	0.62;0.62;0.62	5.38	1.44	0.22558	Cadherin (4);Cadherin-like (1);	0.266100	0.43260	N	0.000593	T	0.45677	0.1354	L	0.56124	1.755	0.42141	D	0.991516	B;B;P	0.35844	0.01;0.241;0.524	B;B;P	0.44518	0.019;0.178;0.452	T	0.24404	-1.0161	10	0.25751	T	0.34	-19.9168	9.1123	0.36734	0.3205:0.0:0.6795:0.0	.	50;291;291	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	291;291;50	ENSP00000331063:G291E;ENSP00000361189:G291E;ENSP00000415980:G50E	ENSP00000331063:G291E	G	+	2	0	CDHR1	85955572	0.999000	0.42202	0.223000	0.23860	0.725000	0.41563	1.564000	0.36375	0.363000	0.24346	0.491000	0.48974	GGA		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		5	22	0	0	0	1	0	5	22				
TBXA2R	6915	broad.mit.edu	37	19	3600433	3600433	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:3600433A>T	ENST00000375190.4	-	2	593	c.200T>A	c.(199-201)cTc>cAc	p.L67H	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67H|TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	67					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GAGGCCGCAGAGGAAGGTGAG	0.701																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(199-201)cTc>cAc		thromboxane A2 receptor	Ridogrel(DB01207)						41.0	59.0	53.0					19																	3600433		2172	4240	6412	SO:0001583	missense	0				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600433A>T		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.200T>A	19.37:g.3600433A>T	ENSP00000364336:p.Leu67His					TBXA2R_ENST00000589966.1_Missense_Mutation_p.L67H|TBXA2R_ENST00000411851.3_Missense_Mutation_p.L67H	p.L67H	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	593	-		Hepatocellular(1079;0.137)	67					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.200T>A	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266958	0.80469	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.53857	0.6;0.6	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.70072	0.3182	M	0.72894	2.215	0.49299	D	0.999778	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.73978	-0.3812	10	0.72032	D	0.01	-38.7679	13.0377	0.58881	1.0:0.0:0.0:0.0	.	67;67	P21731;E2QRJ2	TA2R_HUMAN;.	H	67	ENSP00000393333:L67H;ENSP00000364336:L67H	ENSP00000364336:L67H	L	-	2	0	TBXA2R	3551433	1.000000	0.71417	0.995000	0.50966	0.944000	0.59088	5.156000	0.64905	1.814000	0.52955	0.260000	0.18958	CTC		0.701	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			8	21	0	0	0	1	0	8	21				
DLX3	1747	broad.mit.edu	37	17	48072109	48072109	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr17:48072109T>G	ENST00000434704.2	-	1	479	c.254A>C	c.(253-255)gAa>gCa	p.E85A	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	85					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GTAGGTATATTCCGACTTGGG	0.637																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(253-255)gAa>gCa		distal-less homeobox 3							65.0	70.0	68.0					17																	48072109		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072109T>G		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.254A>C	17.37:g.48072109T>G	ENSP00000389870:p.Glu85Ala						p.E85A	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			1	479	-			85					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.254A>C	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569567	0.65765	.	.	ENSG00000064195	ENST00000434704	D	0.90261	-2.64	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.89312	0.6679	M	0.78049	2.395	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	D	0.85389	0.1124	10	0.21540	T	0.41	-18.0633	12.7113	0.57092	0.0:0.0:0.0:1.0	.	85	O60479	DLX3_HUMAN	A	85	ENSP00000389870:E85A	ENSP00000389870:E85A	E	-	2	0	DLX3	45427108	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.009000	0.70745	2.115000	0.64714	0.402000	0.26972	GAA		0.637	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			11	38	0	0	0	1	0	11	38				
DGKG	1608	broad.mit.edu	37	3	185997730	185997730	+	Silent	SNP	G	G	A	rs202148280		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:185997730G>A	ENST00000265022.3	-	9	1241	c.702C>T	c.(700-702)taC>taT	p.Y234Y	DGKG_ENST00000544847.1_Silent_p.Y234Y|DGKG_ENST00000382164.4_Silent_p.Y234Y|DGKG_ENST00000344484.4_Silent_p.Y234Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	234	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGTCCCGGTCGTAGTCCATCC	0.507																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(700-702)taC>taT		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)	G	,,	1,4405	2.1+/-5.4	0,1,2202	247.0	228.0	235.0		702,702,702	-3.3	0.9	3		235	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DGKG	NM_001080744.1,NM_001080745.1,NM_001346.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	234/767,234/753,234/792	185997730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185997730G>A	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.702C>T	3.37:g.185997730G>A						DGKG_ENST00000382164.4_Silent_p.Y234Y|DGKG_ENST00000344484.4_Silent_p.Y234Y|DGKG_ENST00000544847.1_Silent_p.Y234Y	p.Y234Y	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	9	1241	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		234			EF-hand 2.		B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.702C>T	CCDS3274.1																																																																																				0.507	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			5	125	0	0	0	1	0	5	125				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	35	0	0	0	1	0	3	35				
NFKBIZ	64332	broad.mit.edu	37	3	101572595	101572595	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr3:101572595A>C	ENST00000326172.5	+	5	1340	c.1225A>C	c.(1225-1227)Aac>Cac	p.N409H	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N309H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N287H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	409	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AAATCCAATGAACACCACACA	0.483																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1225-1227)Aac>Cac		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							68.0	69.0	69.0					3																	101572595		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101572595A>C	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1225A>C	3.37:g.101572595A>C	ENSP00000325663:p.Asn409His					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N309H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N287H	p.N409H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			5	1340	+			409			Interaction with NFKB1/p50 (By similarity).		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1225A>C	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324248	0.41197	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.55413	0.56;0.52;0.62;0.59	5.65	5.65	0.86999	.	0.189205	0.46442	D	0.000292	T	0.54464	0.1860	L	0.27053	0.805	0.41639	D	0.989061	D;P	0.54964	0.969;0.916	P;P	0.54100	0.742;0.579	T	0.59878	-0.7371	10	0.72032	D	0.01	-5.3241	16.1634	0.81734	1.0:0.0:0.0:0.0	.	287;409	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	H	309;309;287;409	ENSP00000419800:N309H;ENSP00000377618:N309H;ENSP00000325593:N287H;ENSP00000325663:N409H	ENSP00000325593:N287H	N	+	1	0	NFKBIZ	103055285	0.989000	0.36119	0.982000	0.44146	0.130000	0.20726	2.997000	0.49457	2.276000	0.75962	0.460000	0.39030	AAC		0.483	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		22	36	0	0	0	1	0	22	36				
CNN1	1264	broad.mit.edu	37	19	11660241	11660241	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr19:11660241C>T	ENST00000252456.2	+	6	816	c.605C>T	c.(604-606)gCg>gTg	p.A202V	CNN1_ENST00000544952.1_Missense_Mutation_p.A182V|CNN1_ENST00000592923.1_Missense_Mutation_p.A152V|CNN1_ENST00000535659.2_Missense_Mutation_p.A152V	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	202					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)		p.A202V(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CTGGACCAGGCGACCATCAGC	0.682																																						ENST00000592923.1																			1	Substitution - Missense(1)	p.A202V(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(454-456)gCg>gTg		calponin 1, basic, smooth muscle							42.0	43.0	43.0					19																	11660241		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11660241C>T	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.605C>T	19.37:g.11660241C>T	ENSP00000252456:p.Ala202Val					CNN1_ENST00000544952.1_Missense_Mutation_p.A182V|CNN1_ENST00000535659.2_Missense_Mutation_p.A152V|CNN1_ENST00000252456.2_Missense_Mutation_p.A202V	p.A152V			P51911	CNN1_HUMAN			7	1032	+			202					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.455C>T	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.888931	0.91814	.	.	ENSG00000130176	ENST00000252456;ENST00000535659;ENST00000544952	T;T;T	0.33865	1.39;1.39;1.39	5.21	5.21	0.72293	.	0.053759	0.85682	D	0.000000	T	0.35740	0.0942	L	0.39898	1.24	0.48395	D	0.999646	P	0.50943	0.94	B	0.43251	0.413	T	0.26710	-1.0095	10	0.66056	D	0.02	-48.1972	17.5118	0.87762	0.0:1.0:0.0:0.0	.	202	P51911	CNN1_HUMAN	V	202;152;182	ENSP00000252456:A202V;ENSP00000442031:A152V;ENSP00000437470:A182V	ENSP00000252456:A202V	A	+	2	0	CNN1	11521241	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	5.602000	0.67612	2.442000	0.82660	0.471000	0.43371	GCG		0.682	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		7	25	0	0	0	1	0	7	25				
DPH7	92715	broad.mit.edu	37	9	140459546	140459546	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr9:140459546G>C	ENST00000277540.2	-	6	858	c.701C>G	c.(700-702)aCc>aGc	p.T234S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	234					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												CCTTTTGCTGGTGAAGAGAAA	0.612																																						ENST00000277540.2																			0											c.(700-702)aCc>aGc		diphthamide biosynthesis 7							92.0	94.0	93.0					9																	140459546		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140459546G>C	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.701C>G	9.37:g.140459546G>C	ENSP00000277540:p.Thr234Ser					DPH7_ENST00000479650.1_5'UTR	p.T234S	NM_138778.2	NP_620133.1					6	858	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.701C>G	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298557	0.40694	.	.	ENSG00000148399	ENST00000277540	T	0.61627	0.09	5.41	2.46	0.29980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	L	0.28344	0.845	0.30877	N	0.731794	P	0.42827	0.791	P	0.47941	0.562	T	0.47824	-0.9087	10	0.19590	T	0.45	.	9.5671	0.39405	0.0745:0.4108:0.5147:0.0	.	234	Q9BTV6	WDR85_HUMAN	S	234	ENSP00000277540:T234S	ENSP00000277540:T234S	T	-	2	0	WDR85	139579367	1.000000	0.71417	0.776000	0.31678	0.036000	0.12997	3.604000	0.54081	0.229000	0.21039	0.486000	0.48141	ACC		0.612	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		9	19	0	0	0	1	0	9	19				
SOX13	9580	broad.mit.edu	37	1	204092884	204092884	+	Missense_Mutation	SNP	C	C	G	rs61825749		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr1:204092884C>G	ENST00000367204.1	+	12	1436	c.1327C>G	c.(1327-1329)Ctg>Gtg	p.L443V		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	443					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGGAAGATCCTGCAAGCCTT	0.602											OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(1327-1329)Ctg>Gtg		SRY (sex determining region Y)-box 13							67.0	71.0	70.0					1																	204092884		2199	4300	6499	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204092884C>G		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.1327C>G	1.37:g.204092884C>G	ENSP00000356172:p.Leu443Val		OREG0014126	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2142		p.L443V	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		12	1436	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		443					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.1327C>G	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554282	0.86231	.	.	ENSG00000143842	ENST00000367204	D	0.97811	-4.55	5.53	5.53	0.82687	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97723	0.9253	L	0.41356	1.27	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	D	0.98158	1.0445	10	0.87932	D	0	.	13.7395	0.62838	0.0:0.9242:0.0:0.0757	.	310;310;443	B4DX26;B4E3N9;Q9UN79	.;.;SOX13_HUMAN	V	443	ENSP00000356172:L443V	ENSP00000356172:L443V	L	+	1	2	SOX13	202359507	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.574000	0.46016	2.599000	0.87857	0.655000	0.94253	CTG		0.602	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		3	36	0	0	0	1	0	3	36				
ZFP36L2	678	broad.mit.edu	37	2	43452646	43452647	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr2:43452646_43452647insC	ENST00000282388.3	-	2	589_590	c.296_297insG	c.(295-297)ggcfs	p.G99fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	99					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCTTAAGGGTGCCGTAGGAGGT	0.718																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(295-297)gacfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452646_43452647insC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.297dupG	2.37:g.43452648_43452648dupC	ENSP00000282388:p.Gly99fs					THADA_ENST00000330266.7_Intron	p.D99fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	589_590	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	99					Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.296_297insG	CCDS1811.1																																																																																				0.718	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		5	10						5	10	---	---	---	---
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373|rs149736720|rs368818072	byFrequency	TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2962-2964)ccg>CCTGCCTCCACCACAccg	p.988_988P>PASTTP	PHF2_ENST00000375376.4_In_Frame_Ins_p.219_219P>PASTTP	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	988	Ser/Thr-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688														2369	0.473043	0.6853	0.4265	5008	,	,		14854	0.4246		0.5089	False		,,,				2504	0.2321					ENST00000359246.4																			2	Insertion - In frame(1)|Substitution - coding silent(1)	p.T987_P988insPASTT(1)|p.T987T(1)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc		PHD finger protein 2				3102,73,967		1205,35,657,8,22,144						0.7	1.0		dbSNP_130	68	5084,99,2939		1725,33,1601,12,42,648	no	codingComplex	PHF2	NM_005392.3		2930,68,2258,20,64,792	A1A1,A1A2,A1R,A2A2,A2R,RR		37.4046,25.1086,33.2518				8186,172,3906				SO:0001652	inframe_insertion	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96439004_96439005insCCTGCCTCCACCACA	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	Exception_encountered	9.37:g.96439004_96439005insCCTGCCTCCACCACA	ENSP00000352185:p.AlaSerThrThrPro993dup					PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	p.987_988TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	21	3328_3329	+		Myeloproliferative disorder(762;0.0255)	987			Ser/Thr-rich.		Q4VXG0|Q8N3K2|Q9Y6N4	In_Frame_Ins	INS	ENST00000359246.4	37	c.2961_2962insCCTGCCTCCACCACA	CCDS35069.1																																																																																				0.688	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		3	2						3	2	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403730	89403731	+	RNA	INS	-	-	AAAC	rs377075488|rs371511332	byFrequency	TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aaagtgaaTCAaaacaaacaaa	0.347														311	0.0621006	0.1551	0.0187	5008	,	,		18533	0.0317		0.0099	False		,,,				2504	0.0521					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403730_89403731insAAAC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403735_89403738dupAAAC										Q9HBA9	FOH1B_HUMAN			0	994	+									RNA	INS	ENST00000532352.1	37																																																																																						0.347	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		5	8						5	8	---	---	---	---
ACTN1	87	broad.mit.edu	37	14	69343829	69343833	+	Frame_Shift_Del	DEL	CATGA	CATGA	-			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr14:69343829_69343833delCATGA	ENST00000193403.6	-	20	2869_2873	c.2486_2490delTCATG	c.(2485-2490)gtcatgfs	p.VM829fs	ACTN1_ENST00000394419.4_Frame_Shift_Del_p.VM851fs|ACTN1_ENST00000538545.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000376839.3_Frame_Shift_Del_p.VM759fs|ACTN1_ENST00000438964.2_Frame_Shift_Del_p.VM824fs	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	829					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGAAGGAAGCCATGACTTGGTCTGC	0.576																																						ENST00000193403.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27						c.(2485-2490)gfs		actinin, alpha 1																																				SO:0001589	frameshift_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69343829_69343833delCATGA	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2486_2490delTCATG	14.37:g.69343829_69343833delCATGA	ENSP00000193403:p.Val829fs					ACTN1_ENST00000438964.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000376839.3_Frame_Shift_Del_p.VM759fs|ACTN1_ENST00000538545.2_Frame_Shift_Del_p.VM824fs|ACTN1_ENST00000394419.4_Frame_Shift_Del_p.VM851fs	p.VM829fs	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	20	2869_2873	-			829					B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Frame_Shift_Del	DEL	ENST00000193403.6	37	c.2486_2490delTCATG	CCDS9792.1																																																																																				0.576	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		13	19						13	19	---	---	---	---
RP11-53I6.2	0	broad.mit.edu	37	18	29656287	29656288	+	RNA	INS	-	-	T	rs566452118		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chr18:29656287_29656288insT	ENST00000583184.1	+	0	539																											ttgtttttttgttttttttttg	0.441																																						ENST00000583184.1																			0																																																			0							g.chr18:29656287_29656288insT																													18.37:g.29656297_29656297dupT														0	539	+									RNA	INS	ENST00000583184.1	37																																																																																						0.441	RP11-53I6.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000447730.1			2	4						2	4	---	---	---	---
KANTR	102723508	broad.mit.edu	37	X	53142506	53142507	+	lincRNA	INS	-	-	A	rs372497626		TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chrX:53142506_53142507insA	ENST00000604849.1	+	0	96																											AAAACACACACACAAAAAAAAA	0.356													|||unknown(STR2?)	311	0.0823841	0.0265	0.0346	3775	,	,		12801	0.0565		0.1163	False		,,,				2504	0.0798					ENST00000604849.1																			0																																																			0							g.chrX:53142506_53142507insA																													X.37:g.53142507_53142507dupA														0	96	+									RNA	INS	ENST00000604849.1	37																																																																																						0.356	RP11-258C19.5-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468382.1			3	3						3	3	---	---	---	---
ALG13	79868	broad.mit.edu	37	X	110952229	110952229	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-A9S0-01A-11D-A41K-08	TCGA-G9-A9S0-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9650173-3de9-42ae-9cb3-0cc866860256	485bddad-e180-4a6e-ae2c-bf6336fa9bd2	g.chrX:110952229delA	ENST00000394780.3	+	5	799	c.787delA	c.(787-789)aagfs	p.K263fs	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Frame_Shift_Del_p.K159fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	263	Deubiquitinase activity.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						GGAAATCAGGAAGGCTTGTGT	0.403																																						ENST00000394780.3																			0				endometrium(2)|lung(10)|skin(1)	13						c.(787-789)agfs		ALG13, UDP-N-acetylglucosaminyltransferase subunit							87.0	69.0	75.0					X																	110952229		1568	3579	5147	SO:0001589	frameshift_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110952229delA	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.787delA	X.37:g.110952229delA	ENSP00000378260:p.Lys263fs					ALG13_ENST00000251943.4_Frame_Shift_Del_p.K159fs|ALG13-AS1_ENST00000430794.1_RNA	p.K263fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN			5	799	+			263			OTU.		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	c.787delA	CCDS55477.1																																																																																				0.403	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		2	4						2	4	---	---	---	---
