#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
AGPS	8540	broad.mit.edu	37	2	178386036	178386036	+	Silent	SNP	C	C	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr2:178386036C>T	ENST00000264167.4	+	18	1883	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	579					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTATCTACTTCTATTTTGCCT	0.388																																						ENST00000264167.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1735-1737)ttC>ttT		alkylglycerone phosphate synthase							176.0	165.0	169.0					2																	178386036		2203	4300	6503	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178386036C>T	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1737C>T	2.37:g.178386036C>T						AGPS_ENST00000409888.1_Intron	p.F579F	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		18	1883	+			579					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1737C>T	CCDS2275.1																																																																																				0.388	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			33	75	33	75	---	---	---	---
CCSER1	401145	broad.mit.edu	37	4	91229784	91229784	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr4:91229784G>T	ENST00000509176.1	+	2	637	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F	CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F|CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	117																	AAGACATTCTGTTGGTTTTAG	0.363																																						ENST00000509176.1																			0											c.(349-351)Gtt>Ttt		coiled-coil serine-rich protein 1							66.0	62.0	64.0					4																	91229784		1836	4094	5930	SO:0001583	missense	401145							g.chr4:91229784G>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.349G>T	4.37:g.91229784G>T	ENSP00000425040:p.Val117Phe					CCSER1_ENST00000432775.2_Missense_Mutation_p.V117F|CCSER1_ENST00000333691.8_Missense_Mutation_p.V117F	p.V117F	NM_001145065.1	NP_001138537.1					2	637	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.349G>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447247	0.43429	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.46819	1.36;0.86;1.36	5.18	5.18	0.71444	.	0.203324	0.42821	D	0.000654	T	0.35799	0.0944	L	0.27053	0.805	0.34356	D	0.690387	B;B;B	0.28350	0.183;0.112;0.208	B;B;B	0.30029	0.099;0.049;0.11	T	0.46596	-0.9180	10	0.35671	T	0.21	-9.4262	12.9117	0.58182	0.0754:0.0:0.9246:0.0	.	117;117;117	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	F	117	ENSP00000425040:V117F;ENSP00000389283:V117F;ENSP00000329482:V117F	ENSP00000329482:V117F	V	+	1	0	FAM190A	91448807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.335000	0.59298	2.793000	0.96121	0.655000	0.94253	GTT		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	46	3	46	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92735120	92735120	+	Silent	SNP	T	T	C			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr7:92735120T>C	ENST00000379958.2	-	3	560	c.291A>G	c.(289-291)aaA>aaG	p.K97K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	97						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTTTGGTCTTTAGGAGCAT	0.378																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(289-291)aaA>aaG		sterile alpha motif domain containing 9							177.0	174.0	175.0					7																	92735120		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92735120T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.291A>G	7.37:g.92735120T>C							p.K97K	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	560	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		97					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.291A>G	CCDS34680.1																																																																																				0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		68	166	68	166	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73437354	73437354	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr10:73437354G>T	ENST00000224721.6	+	15	1676	c.1671G>T	c.(1669-1671)ttG>ttT	p.L557F	CDH23_ENST00000299366.7_Missense_Mutation_p.L597F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCAATGTGTTGGATGTCAACG	0.617																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1669-1671)ttG>ttT		cadherin-related 23							40.0	44.0	43.0					10																	73437354		2131	4240	6371	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73437354G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1671G>T	10.37:g.73437354G>T	ENSP00000224721:p.Leu557Phe					CDH23_ENST00000299366.7_Missense_Mutation_p.L597F	p.L557F	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			15	1676	+			552			Cadherin 5.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.1671G>T		.	.	.	.	.	.	.	.	.	.	G	17.72	3.458569	0.63401	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.49	0.472	0.16758	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.53938	D	0.000053	T	0.61714	0.2369	L	0.46614	1.455	0.80722	D	1	D;D;P	0.56746	0.963;0.977;0.727	D;P;P	0.65573	0.936;0.79;0.489	T	0.57136	-0.7863	9	0.52906	T	0.07	.	6.9766	0.24679	0.3163:0.1088:0.5749:0.0	.	552;555;552	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	F	557;552;552;555;555;69	.	ENSP00000224721:L557F	L	+	3	2	CDH23	73107360	1.000000	0.71417	0.898000	0.35279	0.690000	0.40134	0.547000	0.23299	-0.156000	0.11079	-0.266000	0.10368	TTG		0.617	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		9	7	9	7	---	---	---	---
TIGD3	220359	broad.mit.edu	37	11	65123573	65123573	+	Silent	SNP	G	G	A			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr11:65123573G>A	ENST00000309880.5	+	2	501	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	98	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						GGGACGTGACGGGGCCCATGC	0.642																																						ENST00000309880.5																			0				endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						c.(292-294)acG>acA		tigger transposable element derived 3							59.0	63.0	62.0					11																	65123573		2201	4297	6498	SO:0001819	synonymous_variant	220359				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr11:65123573G>A		CCDS8101.1	11q13.1	2008-07-21				ENSG00000173825			18334	protein-coding gene	gene with protein product							Standard	NM_145719		Approved		uc001odo.4	Q6B0B8		ENST00000309880.5:c.294G>A	11.37:g.65123573G>A							p.T98T	NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN			2	501	+			98			HTH CENPB-type.			Silent	SNP	ENST00000309880.5	37	c.294G>A	CCDS8101.1																																																																																				0.642	TIGD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387310.1	NM_145719		25	39	25	39	---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56646642	56646642	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr12:56646642T>C	ENST00000267116.7	-	12	1344	c.1223A>G	c.(1222-1224)cAt>cGt	p.H408R		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	408										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TGAAAGCACATGCTCATTGCT	0.522																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(1222-1224)cAt>cGt		ankyrin repeat domain 52							57.0	58.0	58.0					12																	56646642		2100	4241	6341	SO:0001583	missense	283373						protein binding	g.chr12:56646642T>C	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.1223A>G	12.37:g.56646642T>C	ENSP00000267116:p.His408Arg						p.H408R	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN			12	1344	-			408					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.1223A>G	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193416	0.58017	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.51817	0.69	4.28	4.28	0.50868	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	N	0.22421	0.69	0.80722	D	1	B	0.20780	0.048	B	0.13407	0.009	T	0.13522	-1.0506	10	0.39692	T	0.17	.	12.8717	0.57968	0.0:0.0:0.0:1.0	.	408	Q8NB46	ANR52_HUMAN	R	408	ENSP00000267116:H408R	ENSP00000267116:H408R	H	-	2	0	ANKRD52	54932909	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.791000	0.85805	1.944000	0.56390	0.533000	0.62120	CAT		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		13	19	13	19	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52508861	52508861	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr14:52508861A>T	ENST00000216286.5	-	7	1786	c.1787T>A	c.(1786-1788)tTa>tAa	p.L596*	NID2_ENST00000541773.1_Nonsense_Mutation_p.L543*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	596	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AGGTTTTTCTAAAGCAAAGAG	0.602																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(1786-1788)tTa>tAa		nidogen 2 (osteonidogen)							88.0	97.0	94.0					14																	52508861		2203	4300	6503	SO:0001587	stop_gained	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52508861A>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1787T>A	14.37:g.52508861A>T	ENSP00000216286:p.Leu596*					NID2_ENST00000541773.1_Nonsense_Mutation_p.L543*	p.L596*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			7	1786	-	Breast(41;0.0639)|all_epithelial(31;0.123)		596			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	ENST00000216286.5	37	c.1787T>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	A	41	8.966905	0.99019	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0558	0.80805	1.0:0.0:0.0:0.0	.	.	.	.	X	596;190;543;598	.	ENSP00000216286:L596X	L	-	2	0	NID2	51578611	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.806000	0.91930	2.281000	0.76405	0.533000	0.62120	TTA		0.602	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			37	69	37	69	---	---	---	---
HSP90AA1	3320	broad.mit.edu	37	14	102548543	102548543	+	Nonsense_Mutation	SNP	A	A	T			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr14:102548543A>T	ENST00000216281.8	-	10	2199	c.1994T>A	c.(1993-1995)tTg>tAg	p.L665*	HSP90AA1_ENST00000334701.7_Nonsense_Mutation_p.L787*	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	665					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	TTCATAAAGCAAGATGACCAG	0.458																																						ENST00000334701.7																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28						c.(2359-2361)tTg>tAg		heat shock protein 90kDa alpha (cytosolic), class A member 1	Rifabutin(DB00615)						123.0	117.0	119.0					14																	102548543		2203	4300	6503	SO:0001587	stop_gained	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102548543A>T	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.1994T>A	14.37:g.102548543A>T	ENSP00000216281:p.Leu665*					HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.L665*	p.L787*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN			11	2641	-			665					A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Nonsense_Mutation	SNP	ENST00000216281.8	37	c.2360T>A	CCDS9967.1	.	.	.	.	.	.	.	.	.	.	a	41	8.886985	0.98990	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6149	14.1096	0.65113	1.0:0.0:0.0:0.0	.	.	.	.	X	665;787	.	ENSP00000216281:L665X	L	-	2	0	HSP90AA1	101618296	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	1.805000	0.52779	0.473000	0.43528	TTG		0.458	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414952.2	NM_005348		42	115	42	115	---	---	---	---
MATN4	8785	broad.mit.edu	37	20	43929859	43929859	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8I8-01A-11D-A364-08	TCGA-KK-A8I8-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99d7021e-f0da-44fb-8f6c-5bcd2c433a0e	fe39a0c2-56d9-445c-ab4b-744d4d21f8c2	g.chr20:43929859C>A	ENST00000372754.1	-	5	903	c.895G>T	c.(895-897)Gac>Tac	p.D299Y	MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000537548.1_Missense_Mutation_p.D258Y			O95460	MATN4_HUMAN	matrilin 4	299	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCAGTAGTCAATGGCTGGC	0.592											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(772-774)Gac>Tac		matrilin 4							82.0	84.0	84.0					20																	43929859		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43929859C>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.895G>T	20.37:g.43929859C>A	ENSP00000361840:p.Asp299Tyr		OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_ENST00000342716.4_Missense_Mutation_p.D258Y|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.D299Y|MATN4_ENST00000360607.6_Missense_Mutation_p.D217Y|MATN4_ENST00000372751.4_Missense_Mutation_p.D109Y|MATN4_ENST00000372756.1_Missense_Mutation_p.D258Y	p.D258Y			O95460	MATN4_HUMAN			6	1016	-		Myeloproliferative disorder(115;0.0122)	299			EGF-like 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.772G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.945707	0.73672	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;T;D;D;D	0.97209	-2.41;-2.41;-4.29;-0.52;-4.29;-4.29;-2.41	5.25	4.31	0.51392	.	0.145914	0.31358	N	0.007799	D	0.98940	0.9640	H	0.97265	3.97	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.75484	0.971;0.986	D	0.99191	1.0870	10	0.87932	D	0	.	13.0623	0.59014	0.0:0.9235:0.0:0.0765	.	217;258	O95460-4;O95460-2	.;.	Y	109;299;258;217;258;258;299;109	ENSP00000361839:D109Y;ENSP00000361840:D299Y;ENSP00000361842:D258Y;ENSP00000353819:D217Y;ENSP00000343164:D258Y;ENSP00000440328:D258Y;ENSP00000361837:D109Y	ENSP00000255132:D299Y	D	-	1	0	MATN4	43363273	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	2.318000	0.43779	1.464000	0.47987	0.650000	0.86243	GAC		0.592	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			4	86	4	86	---	---	---	---
