#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
KANSL1L	151050	genome.wustl.edu	37	2	210940456	210940456	+	Silent	SNP	C	C	G			TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr2:210940456C>G	ENST00000281772.9	-	6	1838	c.1575G>C	c.(1573-1575)ctG>ctC	p.L525L	KANSL1L_ENST00000457374.1_Silent_p.L525L|KANSL1L_ENST00000452086.1_Silent_p.L525L|KANSL1L_ENST00000418791.1_Silent_p.L525L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	525						histone acetyltransferase complex (GO:0000123)											TGGAGGAAGACAGCTCATCTA	0.368																																						dbGAP											0			2											112.0	94.0	100.0					2																	210940456		2203	4300	6503	210648701	SO:0001819	synonymous_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1575G>C	2.37:g.210940456C>G		Somatic	217	3.56	8		4	73.33	11	WXS	Illumina HiSeq	Phase_IV	210648701	67	33.66	34	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	NULL	p.L525	ENST00000281772.9	37	c.1575	CCDS33370.1	2	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389084	0.11581	.	.	ENSG00000144445	ENST00000428655	.	.	.	5.59	2.54	0.30619	.	.	.	.	.	T	0.61578	0.2358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57991	-0.7715	4	.	.	.	.	11.5284	0.50593	0.0:0.5586:0.3175:0.1239	.	.	.	.	L	220	.	.	V	-	1	0	C2orf67	210648701	0.995000	0.38212	1.000000	0.80357	0.886000	0.51366	0.083000	0.14871	0.640000	0.30582	-0.310000	0.09108	GTC	-	NULL		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf67	protein_coding	OTTHUMT00000336633.3	C	NM_152519		210648701	-1	no_errors	NM_152519.2	genbank	human	validated	54_36p	silent	SNP	0.998	G
PCDHA6	56142	genome.wustl.edu	37	5	140208675	140208675	+	Silent	SNP	T	T	C			TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr5:140208675T>C	ENST00000529310.1	+	1	1113	c.999T>C	c.(997-999)caT>caC	p.H333H	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.H333H|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGGTCATTGCACCGTTT	0.423																																						dbGAP											0			5											36.0	40.0	39.0					5																	140208675		2182	4272	6454	140188859	SO:0001819	synonymous_variant	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.999T>C	5.37:g.140208675T>C		Somatic	36	2.70	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	140188859	11	47.62	10	O75283|Q9NRT8	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.H333	ENST00000529310.1	37	c.999	CCDS47281.1	5																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.423	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	T	NM_018909		140188859	+1	no_errors	NM_018909.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
CRISPLD1	83690	genome.wustl.edu	37	8	75928854	75928854	+	Missense_Mutation	SNP	G	G	A	rs201918693	byFrequency	TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr8:75928854G>A	ENST00000262207.4	+	7	1250	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.R75Q|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.R73Q	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	261					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAATAGAACGACAGCAGTCA	0.413													G|||	9	0.00179712	0.0	0.0	5008	,	,		14166	0.0089		0.0	False		,,,				2504	0.0					dbGAP											0			8											160.0	166.0	164.0					8																	75928854		2203	4300	6503	76091409	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.782G>A	8.37:g.75928854G>A	ENSP00000262207:p.Arg261Gln	Somatic	81	6.90	6		9	30.77	4	WXS	Illumina HiSeq	Phase_IV	76091409	33	26.09	12	B2RA60|B7Z929	Missense_Mutation	SNP	HMMSmart_SM00198,HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2	p.R261Q	ENST00000262207.4	37	c.782	CCDS6219.1	8	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	8.866	0.948050	0.18356	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;D	0.81499	0.32;-1.18;-1.5	4.98	4.98	0.66077	.	0.338468	0.29314	N	0.012509	T	0.57592	0.2064	N	0.19112	0.55	0.34545	D	0.710671	P;B	0.40431	0.717;0.397	B;B	0.31442	0.13;0.028	T	0.68606	-0.5364	10	0.13853	T	0.58	.	18.8032	0.92027	0.0:0.0:1.0:0.0	.	75;261	B7Z929;Q9H336	.;CRLD1_HUMAN	Q	261;73;75	ENSP00000262207:R261Q;ENSP00000430105:R73Q;ENSP00000429746:R75Q	ENSP00000262207:R261Q	R	+	2	0	CRISPLD1	76091409	1.000000	0.71417	0.946000	0.38457	0.074000	0.17049	5.821000	0.69257	2.734000	0.93682	0.650000	0.86243	CGA	-	NULL		0.413	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	G	NM_031461		76091409	+1	no_errors	NM_031461.4	genbank	human	validated	54_36p	missense	SNP	0.995	A
PLEC	5339	genome.wustl.edu	37	8	144990833	144990833	+	Missense_Mutation	SNP	G	G	A	rs376072341		TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr8:144990833G>A	ENST00000322810.4	-	32	13736	c.13567C>T	c.(13567-13569)Cgc>Tgc	p.R4523C	PLEC_ENST00000527096.1_Missense_Mutation_p.R4409C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4390C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4386C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4364C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4354C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4413C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4372C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4386C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4523	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCAGGAAGCGCTGGCCGGCC	0.701																																						dbGAP											0			8						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4002		0,0,2001	23.0	26.0	25.0		13237,13114,13090,13567,13060,13156,13168,13156	5.2	1.0	8		25	1,8321		0,1,4160	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	180,180,180,180,180,180,180,180	0,1,6161	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	4413/4575,4372/4534,4364/4526,4523/4685,4354/4516,4386/4548,4390/4552,4386/4548	144990833	1,12323	2001	4161	6162	145062821	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13567C>T	8.37:g.144990833G>A	ENSP00000323856:p.Arg4523Cys	Somatic	9	10.00	1		46	44.58	37	WXS	Illumina HiSeq	Phase_IV	145062821	3	62.50	5	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	HMMPfam_Plectin,HMMSmart_SM00250,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat	p.R4523C	ENST00000322810.4	37	c.13567	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016990	0.35606	0.0	1.2E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000010	D	0.92299	0.7557	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.93794	0.7095	10	0.87932	D	0	.	18.5216	0.90954	0.0:0.0:1.0:0.0	.	4413;4372;4364;4523;4354;4386;4390;4386	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4386;4390;4386;4354;4523;4364;4372;4413;4409	ENSP00000344848:R4386C;ENSP00000350277:R4390C;ENSP00000346602:R4386C;ENSP00000381756:R4354C;ENSP00000323856:R4523C;ENSP00000347044:R4364C;ENSP00000348702:R4372C;ENSP00000388180:R4413C;ENSP00000434583:R4409C	ENSP00000323856:R4523C	R	-	1	0	PLEC	145062821	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.424000	0.73366	2.693000	0.91896	0.643000	0.83706	CGC	-	HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC1	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145062821	-1	no_errors	NM_201380.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ADAMTS1	9510	genome.wustl.edu	37	21	28214747	28214747	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr21:28214747G>A	ENST00000284984.3	-	2	1442	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAAAAGTTCCGCAGAGTGAGG	0.522																																						dbGAP											0			21											101.0	80.0	87.0					21																	28214747		2203	4300	6503	27136618	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.988C>T	21.37:g.28214747G>A	ENSP00000284984:p.Arg330Trp	Somatic	212	4.07	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27136618	63	33.68	32	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,HMMPfam_ADAM_spacer1,PatternScan_DISINTEGRIN_1,superfamily_SSF55486	p.R330W	ENST00000284984.3	37	c.988	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599286	0.66332	.	.	ENSG00000154734	ENST00000284984;ENST00000517777;ENST00000517452	D;D;D	0.87029	-2.2;-2.2;-2.2	5.18	0.846	0.18955	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.92172	0.7518	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92273	0.5827	9	0.87932	D	0	.	15.5515	0.76155	0.0:0.0:0.3901:0.6099	.	330	Q9UHI8	ATS1_HUMAN	W	330;68;92	ENSP00000284984:R330W;ENSP00000429557:R68W;ENSP00000431065:R92W	ENSP00000284984:R330W	R	-	1	2	ADAMTS1	27136618	0.187000	0.23238	0.929000	0.37066	0.995000	0.86356	0.506000	0.22658	0.299000	0.22661	-0.181000	0.13052	CGG	-	HMMPfam_Reprolysin,superfamily_SSF55486		0.522	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	protein_coding	OTTHUMT00000171650.2	G			27136618	-1	no_errors	NM_006988.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
