#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
IGHD5-5	28492	broad.mit.edu	37	14	106375813	106375813	+	RNA	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr14:106375813C>T	ENST00000390588.1	-	0	20				IGHD6-6_ENST00000454691.1_RNA|IGHD2-8_ENST00000390585.1_RNA|IGHD1-7_ENST00000430425.1_RNA					immunoglobulin heavy diversity 5-5																		CAGAATCCGACGGGGCGCCCT	0.627																																						uc021ser.1																			0											c.e3440-1		Parts of antibodies, mostly variable regions.							36.0	37.0	37.0					14																	106375813		1777	3982	5759			0							g.chr14:106375813C>T	X13972		14q32.33	2012-02-08			ENSG00000211928	ENSG00000211928		"""Immunoglobulins / IGH locus"""	5511	other	immunoglobulin gene						3138112, 3243276	Standard	NG_001019		Approved	IGHD55, DK4			OTTHUMG00000152360		14.37:g.106375813C>T						KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron								3440		-									Splice_Site	SNP	ENST00000390588.1	37	c.54142_splice																																																																																					0.627	IGHD5-5-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000325966.1	NG_001019		16	26	0	0	0	1	0	16	26				
PIK3AP1	118788	broad.mit.edu	37	10	98416610	98416610	+	Missense_Mutation	SNP	G	G	A	rs567912958	byFrequency	TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:98416610G>A	ENST00000339364.5	-	3	631	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PIK3AP1_ENST00000371110.2_De_novo_Start_InFrame|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	171					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TGAAGTCACCGTCGGCAGGTT	0.577													G|||	3	0.000599042	0.0	0.0	5008	,	,		19160	0.0		0.0	False		,,,				2504	0.0031					uc001kmq.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52						c.(511-513)aCg>aTg		Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.							129.0	102.0	111.0					10																	98416610		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98416610G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.512C>T	10.37:g.98416610G>A	ENSP00000339826:p.Thr171Met					PIK3AP1_uc001kmp.3_5'UTR	p.T171M	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	2	640	-		Colorectal(252;0.0442)	171					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.512C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	5.199	0.222255	0.09863	.	.	ENSG00000155629	ENST00000339364	T	0.10477	2.87	5.01	-5.11	0.02901	.	1.960350	0.01993	N	0.045656	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	P	0.39181	0.663	B	0.27500	0.08	T	0.32613	-0.9900	10	0.51188	T	0.08	5.1967	7.3951	0.26931	0.5281:0.0:0.3624:0.1095	.	171	Q6ZUJ8	BCAP_HUMAN	M	171	ENSP00000339826:T171M	ENSP00000339826:T171M	T	-	2	0	PIK3AP1	98406600	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.003000	0.01463	-1.065000	0.03168	0.561000	0.74099	ACG		0.577	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309		4	63	0	0	0	1	0	4	63				
RYK	6259	broad.mit.edu	37	3	133894572	133894572	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:133894572G>C	ENST00000427044.2	-	14	1499	c.889C>G	c.(889-891)Ctc>Gtc	p.L297V	RYK_ENST00000296084.4_Missense_Mutation_p.L487V			P34925	RYK_HUMAN	receptor-like tyrosine kinase	483					axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			lung(1)|ovary(3)	4						TCTCTGGAGAGGGCATTGTCT	0.408																																						uc003eqc.1																			0				lung(1)|ovary(3)	4						c.(1453-1455)Ctc>Gtc		Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.							122.0	117.0	118.0					3																	133894572		1902	4135	6037	SO:0001583	missense	6259				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr3:133894572G>C	S59184	CCDS75016.1	3q22.1	2012-02-28	2012-02-28		ENSG00000163785	ENSG00000163785	2.7.10.1		10481	protein-coding gene	gene with protein product		600524	"""JTK5A protein tyrosine kinase"", ""RYK receptor-like tyrosine kinase"""	JTK5A		8386829	Standard	NM_001005861		Approved	D3S3195, RYK1, JTK5	uc003eqc.1	P34925	OTTHUMG00000159750	ENST00000427044.2:c.889C>G	3.37:g.133894572G>C	ENSP00000399527:p.Leu297Val					RYK_uc003eqd.1_Missense_Mutation_p.L482V	p.L485V	NM_001005861	NP_001005861	P34925	RYK_HUMAN			13	1551	-			483			Protein kinase.		Q04696	Missense_Mutation	SNP	ENST00000427044.2	37	c.1453C>G		.	.	.	.	.	.	.	.	.	.	G	20.6	4.019720	0.75275	.	.	ENSG00000163785	ENST00000296084;ENST00000427044	D;D	0.90732	-2.72;-2.72	5.72	3.92	0.45320	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.059741	0.64402	D	0.000001	D	0.91362	0.7275	M	0.89601	3.045	0.80722	D	1	B;B	0.29531	0.247;0.208	B;B	0.30105	0.111;0.067	D	0.91034	0.4866	10	0.87932	D	0	-4.6972	10.5081	0.44845	0.0686:0.0:0.7967:0.1346	.	483;486	P34925;P34925-2	RYK_HUMAN;.	V	487;297	ENSP00000296084:L487V;ENSP00000399527:L297V	ENSP00000296084:L487V	L	-	1	0	RYK	135377262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.401000	0.73256	1.423000	0.47198	0.655000	0.94253	CTC		0.408	RYK-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001005861		10	60	0	0	0	1	0	10	60				
FGD1	2245	broad.mit.edu	37	X	54492189	54492189	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chrX:54492189C>A	ENST00000375135.3	-	7	2170	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	479	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|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)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTTGACCAGCTCCACGGCCC	0.547																																						uc004dtg.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1435-1437)gaG>gaT		Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.							89.0	68.0	75.0					X																	54492189		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chrX:54492189C>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1437G>T	X.37:g.54492189C>A	ENSP00000364277:p.Glu479Asp					FGD1_uc011moi.1_Missense_Mutation_p.E237D	p.E479D	NM_004463	NP_004454	P98174	FGD1_HUMAN			6	2171	-			479			DH.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1437G>T	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010093	0.35415	.	.	ENSG00000102302	ENST00000375135	T	0.64260	-0.09	5.54	1.81	0.25067	Dbl homology (DH) domain (5);	0.000000	0.52532	D	0.000062	T	0.53302	0.1788	L	0.38692	1.165	0.37180	D	0.903445	B;B	0.21225	0.053;0.043	B;B	0.35688	0.208;0.124	T	0.50634	-0.8805	10	0.38643	T	0.18	-7.5162	9.0654	0.36460	0.0:0.6117:0.0:0.3883	.	237;479	B4DS99;P98174	.;FGD1_HUMAN	D	479	ENSP00000364277:E479D	ENSP00000364277:E479D	E	-	3	2	FGD1	54508914	0.980000	0.34600	0.998000	0.56505	0.876000	0.50452	0.275000	0.18698	0.183000	0.20059	-1.261000	0.01458	GAG		0.547	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		13	24	0	0	0	1	0	13	24				
ADAMTS16	170690	broad.mit.edu	37	5	5239340	5239340	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr5:5239340C>A	ENST00000274181.7	+	15	2369	c.2231C>A	c.(2230-2232)gCc>gAc	p.A744D		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	744	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			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						AATAACTCAGCCTGCACGATT	0.522																																						uc003jdl.3																			0				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.(2230-2232)gCc>gAc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.							235.0	231.0	233.0					5																	5239340		2065	4216	6281	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239340C>A	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.2231C>A	5.37:g.5239340C>A	ENSP00000274181:p.Ala744Asp					ADAMTS16_uc003jdk.1_Missense_Mutation_p.A744D|ADAMTS16_uc010itk.1_Non-coding_Transcript	p.A744D	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			14	2369	+			744			Cys-rich.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2231C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183814	0.38609	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.68479	-0.33	5.85	-3.05	0.05396	.	0.580480	0.16341	N	0.218690	T	0.35364	0.0929	N	0.02830	-0.485	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.21075	-1.0256	10	0.39692	T	0.17	.	9.2943	0.37806	0.1685:0.4796:0.3519:0.0	.	744;744	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	D	744	ENSP00000274181:A744D	ENSP00000274181:A744D	A	+	2	0	ADAMTS16	5292340	0.022000	0.18835	0.011000	0.14972	0.971000	0.66376	0.513000	0.22770	-0.438000	0.07232	-0.274000	0.10170	GCC		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		23	83	0	0	0	1	0	23	83				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		24	53	0	0	0	1	0	24	53				
OPCML	4978	broad.mit.edu	37	11	132812836	132812836	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:132812836T>C	ENST00000331898.7	-	1	730	c.152A>G	c.(151-153)gAg>gGg	p.E51G	OPCML_ENST00000524381.1_Missense_Mutation_p.E44G|OPCML_ENST00000374778.4_Missense_Mutation_p.E10G|OPCML_ENST00000541867.1_Missense_Mutation_p.E51G|OPCML_ENST00000529038.1_Intron	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	51	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTGGCGCTCTCCCCCTGCCG	0.667																																						uc010sck.2																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(151-153)gAg>gGg		Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.							67.0	69.0	68.0					11																	132812836		2201	4297	6498	SO:0001583	missense	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132812836T>C	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.152A>G	11.37:g.132812836T>C	ENSP00000330862:p.Glu51Gly					OPCML_uc001qgu.3_Missense_Mutation_p.E44G|OPCML_uc001qgs.3_Missense_Mutation_p.E51G|OPCML_uc001qgt.3_Missense_Mutation_p.E51G|OPCML_uc010scl.2_Missense_Mutation_p.E10G	p.E51G	NM_002545	NP_002536	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	0	202	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	51			Ig-like C2-type 1.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	c.152A>G	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744568	0.89663	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.070344	0.56097	D	0.000038	T	0.35008	0.0917	L	0.38531	1.155	0.50813	D	0.999891	P;P;P;P	0.41569	0.607;0.755;0.607;0.607	P;P;P;P	0.46208	0.507;0.507;0.507;0.507	T	0.12785	-1.0534	10	0.87932	D	0	-17.2912	15.9822	0.80121	0.0:0.0:0.0:1.0	.	51;44;51;51	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	G	51;44;10;44;51	ENSP00000330862:E51G;ENSP00000434750:E44G;ENSP00000363910:E10G;ENSP00000445496:E51G	ENSP00000330862:E51G	E	-	2	0	OPCML	132318046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.606000	0.82863	2.186000	0.69663	0.533000	0.62120	GAG		0.667	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		3	31	0	0	0	1	0	3	31				
AKR7L	246181	broad.mit.edu	37	1	19597040	19597040	+	RNA	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:19597040C>T	ENST00000429712.1	-	0	531				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617																																						uc021oho.1																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(73-75)tcG>tcA		Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 2, non-coding RNA.																																						246181							g.chr1:19597040C>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597040C>T						AKR7L_uc021ohn.1_5'UTR	p.S25S							2	412	-								Q5U614	Silent	SNP	ENST00000429712.1	37	c.75G>A		.	.	.	.	.	.	.	.	.	.	C	4.613	0.113921	0.08831	.	.	ENSG00000211454	ENST00000429712	.	.	.	4.19	2.28	0.28536	NADP-dependent oxidoreductase domain (3);	0.240515	0.40640	N	0.001046	T	0.36496	0.0969	.	.	.	0.80722	D	1	B	0.27853	0.191	B	0.24974	0.057	T	0.14924	-1.0455	8	0.45353	T	0.12	.	3.7801	0.08677	0.0:0.5287:0.1895:0.2817	.	138	Q8NHP1	ARK74_HUMAN	M	138	.	ENSP00000411913:V138M	V	-	1	0	AKR7L	19469627	1.000000	0.71417	0.959000	0.39883	0.066000	0.16364	2.798000	0.47884	0.522000	0.28464	-0.259000	0.10710	GTG		0.617	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	40	0	0	0	1	0	3	40				
CORIN	10699	broad.mit.edu	37	4	47644047	47644047	+	Silent	SNP	C	C	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:47644047C>A	ENST00000273857.4	-	16	2087	c.2088G>T	c.(2086-2088)gtG>gtT	p.V696V	CORIN_ENST00000505909.1_Silent_p.V659V|CORIN_ENST00000508498.1_Silent_p.V557V|CORIN_ENST00000502252.1_Silent_p.V629V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	696	SRCR.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AAGAGGAGTTCACATTTATAG	0.448																																						uc003gxm.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2086-2088)gtG>gtT		Homo sapiens corin, serine peptidase (CORIN), mRNA.							78.0	76.0	77.0					4																	47644047		2203	4300	6503	SO:0001819	synonymous_variant	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47644047C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2088G>T	4.37:g.47644047C>A						CORIN_uc011bzf.2_Silent_p.V557V|CORIN_uc011bzg.2_Silent_p.V629V	p.V696V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			15	2181	-			696			SRCR.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Silent	SNP	ENST00000273857.4	37	c.2088G>T	CCDS3477.1																																																																																				0.448	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			9	31	0	0	0	1	0	9	31				
LGR4	55366	broad.mit.edu	37	11	27390293	27390293	+	Silent	SNP	G	G	A			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr11:27390293G>A	ENST00000379214.4	-	18	2420	c.1977C>T	c.(1975-1977)ctC>ctT	p.L659L	LGR4_ENST00000389858.4_Silent_p.L635L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	659					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAACTGTTTGAGATGATTGC	0.413																																						uc001mrj.4																			0				NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						c.(1975-1977)ctC>ctT		Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.							91.0	87.0	88.0					11																	27390293		2202	4299	6501	SO:0001819	synonymous_variant	55366					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr11:27390293G>A	AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1977C>T	11.37:g.27390293G>A						LGR4_uc001mrk.4_Silent_p.L635L	p.L659L	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN			17	2462	-			659					A6NCH3|G5E9B3|Q8N537|Q9NYD1	Silent	SNP	ENST00000379214.4	37	c.1977C>T	CCDS31449.1																																																																																				0.413	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	NM_018490		13	62	0	0	0	1	0	13	62				
BMP3	651	broad.mit.edu	37	4	81967362	81967362	+	Missense_Mutation	SNP	C	C	T	rs200302858		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr4:81967362C>T	ENST00000282701.2	+	2	1107	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	263					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						ACAGGGACACCGGAATTTTCC	0.498																																						uc003hmg.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(787-789)Cgg>Tgg		Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.							86.0	88.0	87.0					4																	81967362		2203	4300	6503	SO:0001583	missense	651				cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr4:81967362C>T	M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.787C>T	4.37:g.81967362C>T	ENSP00000282701:p.Arg263Trp						p.R263W	NM_001201	NP_001192	P12645	BMP3_HUMAN			1	1107	+			263					Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	c.787C>T	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	C	6.120	0.390416	0.11581	.	.	ENSG00000152785	ENST00000282701	T	0.74315	-0.83	5.27	3.52	0.40303	.	1.195350	0.05373	N	0.535747	T	0.66587	0.2804	L	0.31294	0.92	0.09310	N	1	B	0.23591	0.088	B	0.08055	0.003	T	0.56288	-0.8004	10	0.59425	D	0.04	.	12.2271	0.54465	0.0:0.8516:0.0:0.1484	.	263	P12645	BMP3_HUMAN	W	263	ENSP00000282701:R263W	ENSP00000282701:R263W	R	+	1	2	BMP3	82186386	0.001000	0.12720	0.079000	0.20413	0.002000	0.02628	0.397000	0.20883	1.372000	0.46190	0.655000	0.94253	CGG		0.498	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1			4	59	0	0	0	1	0	4	59				
MRAP2	112609	broad.mit.edu	37	6	84799015	84799015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr6:84799015C>T	ENST00000257776.4	+	4	568	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	145					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CGTCCAACTCCAGGAAGCCAT	0.522																																						uc003pkg.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(433-435)Cag>Tag		Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.							113.0	106.0	108.0					6																	84799015		2203	4300	6503	SO:0001587	stop_gained	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799015C>T	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.433C>T	6.37:g.84799015C>T	ENSP00000257776:p.Gln145*					MRAP2_uc010kbo.3_Nonsense_Mutation_p.Q59*	p.Q145*	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN			3	623	+			145					A8K9M1|Q8IXM9|Q8N2D1	Nonsense_Mutation	SNP	ENST00000257776.4	37	c.433C>T	CCDS5001.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229615	0.58777	.	.	ENSG00000135324	ENST00000257776	.	.	.	5.18	5.18	0.71444	.	0.282103	0.35936	N	0.002900	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.9859	19.0609	0.93093	0.0:1.0:0.0:0.0	.	.	.	.	X	145	.	ENSP00000257776:Q145X	Q	+	1	0	MRAP2	84855734	1.000000	0.71417	0.996000	0.52242	0.148000	0.21650	5.723000	0.68492	2.589000	0.87451	0.655000	0.94253	CAG		0.522	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		25	25	0	0	0	1	0	25	25				
KRTAP24-1	643803	broad.mit.edu	37	21	31654786	31654786	+	Silent	SNP	A	A	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr21:31654786A>G	ENST00000340345.4	-	1	490	c.465T>C	c.(463-465)ctT>ctC	p.L155L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	155						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAAGCAGTTAAGTTGTCCAA	0.458																																						uc002ynv.3																			0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(463-465)ctT>ctC		Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.							134.0	132.0	133.0					21																	31654786		1923	4141	6064	SO:0001819	synonymous_variant	643803					keratin filament	structural molecule activity	g.chr21:31654786A>G	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.465T>C	21.37:g.31654786A>G							p.L155L	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			0	491	-			155					Q1XDX0	Silent	SNP	ENST00000340345.4	37	c.465T>C	CCDS42915.1																																																																																				0.458	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455		6	89	0	0	0	1	0	6	89				
ZNF488	118738	broad.mit.edu	37	10	48371510	48371510	+	Missense_Mutation	SNP	C	C	G	rs181686195		TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:48371510C>G	ENST00000395702.2	+	2	1205	c.978C>G	c.(976-978)ttC>ttG	p.F326L	ZNF488_ENST00000586537.1_Missense_Mutation_p.F219L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	326					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGGAGCACTTCCGGGAGCGCC	0.622																																						uc001jex.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						c.(976-978)ttC>ttG		Homo sapiens zinc finger protein 488 (ZNF488), mRNA.							76.0	78.0	77.0					10																	48371510		2203	4300	6503	SO:0001583	missense	118738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:48371510C>G	AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.978C>G	10.37:g.48371510C>G	ENSP00000379054:p.Phe326Leu					ZNF488_uc021ppx.1_Missense_Mutation_p.F326L	p.F326L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN			1	1140	+			326					Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	c.978C>G	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	C	32	5.181265	0.94846	.	.	ENSG00000165388	ENST00000395702	T	0.42131	0.98	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	U	0.000000	T	0.68311	0.2987	M	0.80847	2.515	0.43321	D	0.995343	D	0.89917	1.0	D	0.91635	0.999	T	0.72157	-0.4375	10	0.87932	D	0	.	18.4968	0.90867	0.0:1.0:0.0:0.0	.	326	Q96MN9	ZN488_HUMAN	L	326	ENSP00000379054:F326L	ENSP00000379054:F326L	F	+	3	2	ZNF488	47991516	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.834000	0.39171	2.682000	0.91365	0.655000	0.94253	TTC		0.622	ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034		14	71	0	0	0	1	0	14	71				
SLC2A5	6518	broad.mit.edu	37	1	9117665	9117665	+	Silent	SNP	G	G	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:9117665G>C	ENST00000377424.4	-	3	314	c.135C>G	c.(133-135)ctC>ctG	p.L45L	SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.L45L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	45					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTTGCATGAGCTAGGAGA	0.423																																						uc001apo.3																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(133-135)ctC>ctG		Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.							80.0	69.0	73.0					1																	9117665		2203	4300	6503	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9117665G>C	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.135C>G	1.37:g.9117665G>C						SLC2A5_uc010nzz.2_Intron|SLC2A5_uc010oaa.2_Intron|SLC2A5_uc010oac.2_Silent_p.L45L|SLC2A5_uc001app.4_Silent_p.L45L|SLC2A5_uc021ofv.1_Non-coding_Transcript	p.L45L	NM_003039	NP_003030	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	2	427	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	45					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.135C>G	CCDS99.1																																																																																				0.423	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		13	16	0	0	0	1	0	13	16				
FLG	2312	broad.mit.edu	37	1	152285714	152285714	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:152285714T>C	ENST00000368799.1	-	3	1683	c.1648A>G	c.(1648-1650)Aca>Gca	p.T550A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	550	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGATGTGGTGTGGCTG	0.567									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1648-1650)Aca>Gca		Homo sapiens filaggrin (FLG), mRNA.							385.0	374.0	378.0					1																	152285714		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285714T>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1648A>G	1.37:g.152285714T>C	ENSP00000357789:p.Thr550Ala					AK056431_uc001ezv.3_5'Flank	p.T550A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1684	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		550			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1648A>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.964	0.747657	0.15710	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.00840	5.63	2.02	-4.04	0.04010	.	.	.	.	.	T	0.00468	0.0015	M	0.75447	2.3	0.09310	N	1	B	0.28820	0.224	B	0.39379	0.298	T	0.42649	-0.9439	9	0.09084	T	0.74	.	3.8193	0.08828	0.5981:0.2379:0.0:0.164	.	550	P20930	FILA_HUMAN	A	550;82	ENSP00000357789:T550A	ENSP00000357789:T550A	T	-	1	0	FLG	150552338	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.065000	0.03458	-0.875000	0.04022	-0.449000	0.05564	ACA		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	315	0	0	0	1	0	56	315				
COL22A1	169044	broad.mit.edu	37	8	139662001	139662001	+	Silent	SNP	A	A	G			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr8:139662001A>G	ENST00000303045.6	-	46	3800	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.P1098P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1118	Collagen-like 10.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCCAGGAGGGCAGTCAT	0.527										HNSCC(7;0.00092)																												uc003yvd.3																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3352-3354)ccT>ccC		Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.							55.0	52.0	53.0					8																	139662001		2202	4300	6502	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139662001A>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3354T>C	8.37:g.139662001A>G		HNSCC(7;0.00092)				COL22A1_uc011ljo.2_Silent_p.P398P	p.P1118P	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		45	3801	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1118			Collagen-like 10.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.3354T>C	CCDS6376.1																																																																																				0.527	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		5	29	0	0	0	1	0	5	29				
DCLRE1A	9937	broad.mit.edu	37	10	115595057	115595057	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr10:115595057C>T	ENST00000361384.2	-	9	3894	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E993K	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	993					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGCTGTGTTCACTGTAAGGA	0.353								Other identified genes with known or suspected DNA repair function																														uc001law.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(2977-2979)Gaa>Aaa	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.							82.0	77.0	79.0					10																	115595057		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115595057C>T		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2977G>A	10.37:g.115595057C>T	ENSP00000355185:p.Glu993Lys						p.E993K	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	8	3895	-			993					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2977G>A	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379252	0.95945	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.74421	-0.84;-0.84	5.32	5.32	0.75619	DNA repair metallo-beta-lactamase (1);	0.000000	0.85682	D	0.000000	D	0.90501	0.7024	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93032	0.6449	10	0.87932	D	0	-28.9227	17.5439	0.87856	0.0:1.0:0.0:0.0	.	993	Q6PJP8	DCR1A_HUMAN	K	993	ENSP00000355185:E993K;ENSP00000358311:E993K	ENSP00000355185:E993K	E	-	1	0	DCLRE1A	115585047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.389000	0.79806	2.648000	0.89879	0.655000	0.94253	GAA		0.353	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		6	34	0	0	0	1	0	6	34				
PAQR6	79957	broad.mit.edu	37	1	156215632	156215632	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr1:156215632G>T	ENST00000292291.5	-	4	484	c.326C>A	c.(325-327)cCc>cAc	p.P109H	PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000540423.1_Missense_Mutation_p.P106H|PAQR6_ENST00000368270.1_Missense_Mutation_p.P85H|PAQR6_ENST00000335852.1_Missense_Mutation_p.P3H|PAQR6_ENST00000356983.2_Missense_Mutation_p.P3H	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	109						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					GCGCATGCGGGGCGACATGGA	0.697																																					GBM(16;219 398 12385 32425 38531)	uc001fnz.1																			0				lung(4)|ovary(1)	5						c.(7-9)cCc>cAc		Homo sapiens progestin and adipoQ receptor family member VI (PAQR6), transcript variant 1, mRNA.							24.0	23.0	23.0					1																	156215632		2197	4290	6487	SO:0001583	missense	79957					integral to membrane	receptor activity	g.chr1:156215632G>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.326C>A	1.37:g.156215632G>T	ENSP00000292291:p.Pro109His					PAQR6_uc001fnv.1_Missense_Mutation_p.P85H|PAQR6_uc010phg.1_Missense_Mutation_p.P106H|PAQR6_uc001fnx.1_Missense_Mutation_p.P3H|PAQR6_uc001fnu.1_Missense_Mutation_p.P109H|PAQR6_uc010phf.1_5'UTR|PAQR6_uc001fny.1_5'UTR|PAQR6_uc010phh.1_Missense_Mutation_p.P109H|PAQR6_uc001foa.1_Missense_Mutation_p.P3H|PAQR6_uc001fob.1_Non-coding_Transcript	p.P3H	NM_024897	NP_079173	Q6TCH4	PAQR6_HUMAN			2	624	-	Hepatocellular(266;0.158)		109					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.8C>A	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714662	0.48622	.	.	ENSG00000160781	ENST00000292291;ENST00000360733;ENST00000335852;ENST00000356983;ENST00000368270;ENST00000540423	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	4.43	4.43	0.53597	.	.	.	.	.	T	0.22044	0.0531	L	0.57536	1.79	0.38823	D	0.955682	B;P;B	0.40909	0.066;0.732;0.066	B;B;B	0.40901	0.061;0.343;0.061	T	0.04840	-1.0923	9	0.45353	T	0.12	-4.0971	14.5509	0.68065	0.0:0.0:1.0:0.0	.	106;3;109	B7Z9R9;Q6TCH4-2;Q6TCH4	.;.;PAQR6_HUMAN	H	109;3;3;3;85;106	ENSP00000292291:P109H;ENSP00000353961:P3H;ENSP00000338330:P3H;ENSP00000349474:P3H;ENSP00000357253:P85H;ENSP00000443167:P106H	ENSP00000292291:P109H	P	-	2	0	PAQR6	154482256	0.747000	0.28283	1.000000	0.80357	0.988000	0.76386	3.736000	0.55052	2.266000	0.75297	0.462000	0.41574	CCC		0.697	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		3	7	0	0	0	1	0	3	7				
ITIH1	3697	broad.mit.edu	37	3	52820397	52820397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3R8-01A-11D-A21Z-08	TCGA-FY-A3R8-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6894f5-6dc1-4d7f-8002-209b443ccedf	2a402e31-c85e-4bf9-8e25-0087ab122642	g.chr3:52820397delC	ENST00000273283.2	+	13	1704	c.1680delC	c.(1678-1680)aacfs	p.N560fs	ITIH1_ENST00000540715.1_Frame_Shift_Del_p.N418fs|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Frame_Shift_Del_p.N272fs|ITIH1_ENST00000542827.1_Frame_Shift_Del_p.N560fs	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	560	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCTGGAGAACCACGTCGAGC	0.602																																						uc003dfs.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1678-1680)aacfs		Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.			,,,	0,4262		0,0,2131	50.0	39.0	43.0		,,,	5.5	1.0	3		43	2,8246		0,2,4122	no	frameshift,frameshift,frameshift,frameshift	ITIH1	NM_002215.2,NM_001166436.1,NM_001166435.1,NM_001166434.1	,,,	0,2,6253	A1A1,A1R,RR		0.0242,0.0,0.016	,,,	,,,	52820397	2,12508	2203	4297	6500	SO:0001589	frameshift_variant	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52820397delC		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1680delC	3.37:g.52820397delC	ENSP00000273283:p.Asn560fs					ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Frame_Shift_Del_p.N418fs|ITIH1_uc021wzg.1_Frame_Shift_Del_p.N272fs|ITIH1_uc021wzh.1_Frame_Shift_Del_p.N272fs|ITIH1_uc003dft.3_Frame_Shift_Del_p.N161fs	p.N560fs	NM_002215	NP_002206	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1710	+			560			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Frame_Shift_Del	DEL	ENST00000273283.2	37	c.1680delC	CCDS2864.1																																																																																				0.602	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		4	2						4	2	---	---	---	---
