#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZFP69	339559	broad.mit.edu	37	1	40960881	40960881	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:40960881A>C	ENST00000372706.1	+	6	1737	c.731A>C	c.(730-732)aAa>aCa	p.K244T	ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGGCACCATAAATATGATACA	0.318																																						ENST00000372706.1																			0											c.(730-732)aAa>aCa		ZFP69 zinc finger protein							55.0	56.0	55.0					1																	40960881		2203	4299	6502	SO:0001583	missense	339559							g.chr1:40960881A>C	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.731A>C	1.37:g.40960881A>C	ENSP00000361791:p.Lys244Thr					RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.K244T	p.K244T							6	1737	+								Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	ENST00000372706.1	37	c.731A>C	CCDS30686.1	.	.	.	.	.	.	.	.	.	.	A	7.634	0.679422	0.14907	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.16324	2.35;2.35	4.44	4.44	0.53790	.	0.157867	0.30118	N	0.010377	T	0.09642	0.0237	N	0.10782	0.045	0.09310	N	1	B	0.19073	0.033	B	0.17098	0.017	T	0.23226	-1.0194	10	0.30078	T	0.28	-14.4261	12.3151	0.54951	1.0:0.0:0.0:0.0	.	244	Q49AA0	ZN642_HUMAN	T	244	ENSP00000361791:K244T;ENSP00000361790:K244T	ENSP00000361790:K244T	K	+	2	0	ZNF642	40733468	0.000000	0.05858	0.404000	0.26397	0.828000	0.46876	0.926000	0.28804	2.225000	0.72522	0.460000	0.39030	AAA		0.318	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494		3	20	3	20	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152285852	152285852	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152285852A>G	ENST00000368799.1	-	3	1545	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	504	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)			GAATGCCTGGAGCTGTCTCGT	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1510-1512)Tcc>Ccc		filaggrin							313.0	300.0	305.0					1																	152285852		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.chr1:152285852A>G	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.1510T>C	1.37:g.152285852A>G	ENSP00000357789:p.Ser504Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S504P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1545	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		504			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1510T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.654873	0.29425	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03772	3.81	3.54	-3.24	0.05094	.	.	.	.	.	T	0.06234	0.0161	M	0.81682	2.555	0.09310	N	1	D	0.69078	0.997	D	0.81914	0.995	T	0.10268	-1.0637	9	0.49607	T	0.09	.	1.427	0.02325	0.378:0.3448:0.1089:0.1683	.	504	P20930	FILA_HUMAN	P	504;36	ENSP00000357789:S504P	ENSP00000357789:S504P	S	-	1	0	FLG	150552476	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.621000	0.05559	-0.723000	0.04915	0.414000	0.27820	TCC		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		28	648	28	648	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113378681	113378681	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr3:113378681A>T	ENST00000478658.1	-	5	1865	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.N616K			Q68DE3	K2018_HUMAN	KIAA2018	616						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCACTGAATTATTAGACCCTA	0.448																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(1846-1848)aaT>aaA		KIAA2018							134.0	130.0	131.0					3																	113378681		1916	4129	6045	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113378681A>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1848T>A	3.37:g.113378681A>T	ENSP00000420721:p.Asn616Lys					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K	p.N616K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	2258	-			616					Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.1848T>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	A	10.01	1.233570	0.22626	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.13420	2.59;2.59	5.26	2.91	0.33838	.	0.689875	0.14781	N	0.298798	T	0.06050	0.0157	N	0.19112	0.55	0.25415	N	0.988324	B	0.24823	0.112	B	0.16722	0.016	T	0.39761	-0.9598	10	0.06236	T	0.91	-3.7844	3.8717	0.09039	0.5569:0.0:0.2892:0.1539	.	616	Q68DE3	K2018_HUMAN	K	616	ENSP00000320794:N616K;ENSP00000420721:N616K	ENSP00000320794:N616K	N	-	3	2	KIAA2018	114861371	0.592000	0.26832	1.000000	0.80357	0.994000	0.84299	1.957000	0.40392	0.830000	0.34757	0.528000	0.53228	AAT		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		5	35	5	35	---	---	---	---
ADRA2C	152	broad.mit.edu	37	4	3769634	3769634	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:3769634C>G	ENST00000330055.5	+	1	1510	c.1301C>G	c.(1300-1302)cCg>cGg	p.P434R	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	434					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTCAACCCGGTCATCTAC	0.597																																					Esophageal Squamous(12;454 628 4517 14479)	ENST00000330055.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(1300-1302)cCg>cGg		adrenoceptor alpha 2C	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						28.0	33.0	32.0					4																	3769634		2189	4295	6484	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3769634C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1301C>G	4.37:g.3769634C>G	ENSP00000386069:p.Pro434Arg					ADRA2C_ENST00000509482.1_Intron	p.P434R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	1510	+			434					P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.1301C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992258	0.74703	.	.	ENSG00000184160	ENST00000330055	D	0.98807	-5.15	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	D	0.99545	0.9837	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97445	1.0024	9	0.87932	D	0	.	14.8908	0.70606	0.0:1.0:0.0:0.0	.	434	P18825	ADA2C_HUMAN	R	434	ENSP00000386069:P434R	ENSP00000386069:P434R	P	+	2	0	ADRA2C	3739432	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.853000	0.75435	1.938000	0.56188	0.650000	0.86243	CCG		0.597	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	43	3	43	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144469277	144469277	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:144469277A>G	ENST00000283131.3	+	22	3431	c.2969A>G	c.(2968-2970)aAg>aGg	p.K990R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	990	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGTTTCTTAAGTCCAGAACT	0.373																																						ENST00000283131.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2968-2970)aAg>aGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							77.0	73.0	74.0					4																	144469277		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144469277A>G	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2969A>G	4.37:g.144469277A>G	ENSP00000283131:p.Lys990Arg						p.K990R	NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN			22	3431	+	all_hematologic(180;0.158)		990			SANT 2.			Missense_Mutation	SNP	ENST00000283131.3	37	c.2969A>G	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.118453	0.77323	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.92099	-2.97	5.93	5.93	0.95920	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89897	0.6848	L	0.42008	1.315	0.58432	D	0.999998	B	0.23442	0.085	B	0.32090	0.14	D	0.86125	0.1571	10	0.26408	T	0.33	0.0047	16.3766	0.83401	1.0:0.0:0.0:0.0	.	990	O60264	SMCA5_HUMAN	R	990;933;933	ENSP00000283131:K990R	ENSP00000283131:K990R	K	+	2	0	SMARCA5	144688727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.330000	0.96422	2.263000	0.75096	0.533000	0.62120	AAG		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			2	15	2	15	---	---	---	---
ATF6B	1388	broad.mit.edu	37	6	32083517	32083517	+	Silent	SNP	C	C	T			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr6:32083517C>T	ENST00000375203.3	-	18	2143	c.2111G>A	c.(2110-2112)tGa>tAa	p.*704*	ATF6B_ENST00000375201.4_Silent_p.*701*	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	0					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCAGAGGTCAGGGATGATT	0.617																																						ENST00000375201.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(2101-2103)tGa>tAa		activating transcription factor 6 beta							65.0	73.0	70.0					6																	32083517		2203	4300	6503	SO:0001819	synonymous_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32083517C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.2111G>A	6.37:g.32083517C>T						ATF6B_ENST00000375203.3_Silent_p.*704*	p.*701*			Q99941	ATF6B_HUMAN			18	2147	-			0					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Silent	SNP	ENST00000375203.3	37	c.2102G>A	CCDS4737.1																																																																																				0.617	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			5	161	5	161	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110437366	110437366	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:110437366C>A	ENST00000378402.5	+	24	2854	c.2750C>A	c.(2749-2751)cCa>cAa	p.P917Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	917					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAATTGGCCAGGCGAGTCA	0.338										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(2749-2751)cCa>cAa		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							50.0	49.0	49.0					8																	110437366		1831	4089	5920	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110437366C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2750C>A	8.37:g.110437366C>A	ENSP00000367655:p.Pro917Gln	HNSCC(38;0.096)					p.P917Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		24	2854	+			917					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2750C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367472	0.61513	.	.	ENSG00000205038	ENST00000378402	D	0.85629	-2.01	5.16	5.16	0.70880	.	0.307930	0.27749	N	0.018016	D	0.87665	0.6234	L	0.50333	1.59	0.27431	N	0.954004	D	0.71674	0.998	P	0.62382	0.901	T	0.79422	-0.1810	10	0.15499	T	0.54	.	14.4958	0.67685	0.0:1.0:0.0:0.0	.	917	Q86WI1	PKHL1_HUMAN	Q	917	ENSP00000367655:P917Q	ENSP00000367655:P917Q	P	+	2	0	PKHD1L1	110506542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.814000	0.55643	2.547000	0.85894	0.557000	0.71058	CCA		0.338	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		2	6	2	6	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432916	55432916	+	Missense_Mutation	SNP	C	C	G	rs200621615		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:55432916C>G	ENST00000314259.3	+	1	303	c.274C>G	c.(274-276)Ctc>Gtc	p.L92V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TACCATCTCTCTCAAAGGCTG	0.502																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(274-276)Ctc>Gtc		olfactory receptor, family 4, subfamily C, member 6							144.0	130.0	135.0					11																	55432916		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432916C>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.274C>G	11.37:g.55432916C>G	ENSP00000324769:p.Leu92Val						p.L92V	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	303	+			92					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.274C>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	5.154	0.214046	0.09810	.	.	ENSG00000181903	ENST00000314259	T	0.01981	4.52	3.83	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.302718	0.18248	N	0.147040	T	0.01730	0.0055	N	0.25380	0.74	0.09310	N	1	P	0.42203	0.773	B	0.41332	0.354	T	0.48080	-0.9066	10	0.54805	T	0.06	.	4.625	0.12474	0.0:0.1874:0.3185:0.4942	.	92	Q8NH72	OR4C6_HUMAN	V	92	ENSP00000324769:L92V	ENSP00000324769:L92V	L	+	1	0	OR4C6	55189492	0.000000	0.05858	0.197000	0.23402	0.011000	0.07611	0.239000	0.18023	0.079000	0.16929	0.543000	0.68304	CTC		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		6	52	6	52	---	---	---	---
CADM1	23705	broad.mit.edu	37	11	115047194	115047194	+	Nonstop_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:115047194C>A	ENST00000452722.3	-	10	1349	c.1329G>T	c.(1327-1329)taG>taT	p.*443Y	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAAGGCTGATCTAGATGAAGT	0.418																																						ENST00000452722.3																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1327-1329)taG>taT		cell adhesion molecule 1							259.0	239.0	246.0					11																	115047194		2201	4296	6497	SO:0001578	stop_lost	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115047194C>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1329G>T	11.37:g.115047194C>A						CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000542447.2_Nonstop_Mutation_p.*415Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y	p.*443Y	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	10	1349	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)							Nonstop_Mutation	SNP	ENST00000452722.3	37	c.1329G>T	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.224554	0.39300	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.277	0.94036	0.0:1.0:0.0:0.0	.	.	.	.	Y	415;443;454;444;374;472;128	.	.	X	-	3	2	CADM1	114552404	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.866000	0.48420	2.782000	0.95742	0.655000	0.94253	TAG		0.418	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	74	7	74	---	---	---	---
TRPV2	51393	broad.mit.edu	37	17	16335412	16335412	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:16335412C>A	ENST00000338560.7	+	12	2186	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	596					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCCTGGAAGCCTCCTTGGAG	0.632																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(1786-1788)gCc>gAc		transient receptor potential cation channel, subfamily V, member 2							80.0	80.0	80.0					17																	16335412		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16335412C>A	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1787C>A	17.37:g.16335412C>A	ENSP00000342222:p.Ala596Asp					TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D|TRPV2_ENST00000583241.1_3'UTR	p.A596D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	12	2186	+			596					A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.1787C>A	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599944	0.28534	.	.	ENSG00000187688	ENST00000338560	D	0.99143	-5.48	4.81	4.81	0.61882	Ion transport (1);	0.163418	0.56097	D	0.000031	D	0.98868	0.9617	M	0.73962	2.25	0.45914	D	0.99875	D	0.53151	0.958	P	0.60473	0.875	D	0.99035	1.0822	10	0.87932	D	0	-44.8674	10.5267	0.44952	0.0:0.8992:0.0:0.1008	.	596	Q9Y5S1	TRPV2_HUMAN	D	596	ENSP00000342222:A596D	ENSP00000342222:A596D	A	+	2	0	TRPV2	16276137	0.965000	0.33210	0.977000	0.42913	0.497000	0.33675	3.734000	0.55037	2.245000	0.73994	0.449000	0.29647	GCC		0.632	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		7	123	7	123	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:47696426A>G	ENST00000393328.2	-	6	762	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Ctc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>C	17.37:g.47696426A>G	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.927916	0.92389	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.63310	-0.6666	10	0.44086	T	0.13	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	79	5	79	---	---	---	---
