#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ITIH4	3700	broad.mit.edu	37	3	52857696	52857696	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:52857696T>C	ENST00000266041.4	-	11	1511	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	472					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTCCACGGCATTGCTTGGGTA	0.582																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1414-1416)aAt>aGt		inter-alpha-trypsin inhibitor heavy chain family, member 4							112.0	110.0	110.0					3																	52857696		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857696T>C	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1415A>G	3.37:g.52857696T>C	ENSP00000266041:p.Asn472Ser		Somatic				ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000434759.3_Missense_Mutation_p.N384S|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000485816.1_Missense_Mutation_p.N472S|ITIH4_ENST00000406595.1_Missense_Mutation_p.N472S|ITIH4_ENST00000346281.5_Missense_Mutation_p.N472S	p.N472S	NM_002218.4	NP_002209.2	WXS	Illumina GAIIx	Phase_I	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	11	1511	-			472					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1415A>G	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955794	0.34471	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	4.56	3.39	0.38822	.	0.308221	0.26397	N	0.024606	T	0.26048	0.0635	M	0.62154	1.92	0.80722	D	1	D;D;D;P	0.61080	0.989;0.989;0.989;0.617	P;P;P;P	0.57101	0.813;0.813;0.813;0.496	T	0.00878	-1.1530	10	0.72032	D	0.01	-10.945	9.7655	0.40559	0.0:0.0839:0.0:0.916	.	472;472;472;472	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	S	472;472;472;472;460;384	ENSP00000266041:N472S;ENSP00000340520:N472S;ENSP00000417824:N472S;ENSP00000384425:N472S;ENSP00000440036:N384S	ENSP00000266041:N472S	N	-	2	0	ITIH4	52832736	0.799000	0.28903	0.049000	0.19019	0.018000	0.09664	2.002000	0.40835	0.602000	0.29896	-0.441000	0.05720	AAT		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		11	73	11	73	---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179529651	179529651	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr3:179529651C>A	ENST00000467460.1	-	11	1422	c.1092G>T	c.(1090-1092)caG>caT	p.Q364H	PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	364					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TCCCGAGGAACTGCCATGCCT	0.468																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1090-1092)caG>caT		peroxisomal biogenesis factor 5-like							154.0	145.0	148.0					3																	179529651		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179529651C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1092G>T	3.37:g.179529651C>A	ENSP00000419975:p.Gln364His		Somatic				PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.Q172H|PEX5L_ENST00000392649.3_Missense_Mutation_p.Q256H|PEX5L_ENST00000476138.1_Missense_Mutation_p.Q321H|PEX5L_ENST00000485199.1_Missense_Mutation_p.Q329H|PEX5L_ENST00000263962.8_Missense_Mutation_p.Q362H|PEX5L_ENST00000472994.1_Missense_Mutation_p.Q305H|PEX5L_ENST00000464614.1_Missense_Mutation_p.Q256H|PEX5L_ENST00000465751.1_Missense_Mutation_p.Q340H	p.Q364H	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	WXS	Illumina GAIIx	Phase_I	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		11	1422	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		364					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1092G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162259	0.57368	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	5.41	1.49	0.22878	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.123875	0.56097	N	0.000030	T	0.75953	0.3920	M	0.83012	2.62	0.53688	D	0.99997	B;B;D;D;D;D	0.89917	0.009;0.005;1.0;0.999;0.998;0.999	B;B;D;D;D;D	0.77557	0.01;0.01;0.99;0.967;0.952;0.98	T	0.74922	-0.3499	10	0.87932	D	0	-14.8526	7.8834	0.29635	0.0:0.6787:0.1181:0.2031	.	305;340;256;362;329;364	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	H	364;362;329;362;256;172;321;252;305;256;340	ENSP00000419975:Q364H;ENSP00000263962:Q362H;ENSP00000418440:Q329H;ENSP00000376420:Q256H;ENSP00000418665:Q172H;ENSP00000420555:Q321H;ENSP00000418054:Q305H;ENSP00000417270:Q256H;ENSP00000419348:Q340H	ENSP00000263962:Q362H	Q	-	3	2	PEX5L	181012345	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	2.085000	0.41634	0.325000	0.23359	-0.142000	0.14014	CAG		0.468	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		9	65	9	65	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389214	1389214	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:1389214C>T	ENST00000324803.4	+	1	3875	c.915C>T	c.(913-915)tgC>tgT	p.C305C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	305					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACACGTGCCGACGTGGAG	0.662																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(913-915)tgC>tgT		cysteine-rich PAK1 inhibitor							146.0	148.0	147.0					4																	1389214		2203	4300	6503	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389214C>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.915C>T	4.37:g.1389214C>T			Somatic					p.C305C	NM_175918.3	NP_787114.2	WXS	Illumina GAIIx	Phase_I	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3875	+			305					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.915C>T	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		5	228	5	228	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100543849	100543849	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr4:100543849G>A	ENST00000265517.5	+	18	2732	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K	MTTP_ENST00000511045.1_Silent_p.K870K|MTTP_ENST00000457717.1_Silent_p.K843K|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	843					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTGAGAAAAAGTACGAAAGGC	0.418																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2527-2529)aaG>aaA		microsomal triglyceride transfer protein	Hesperetin(DB01094)						118.0	116.0	117.0					4																	100543849		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100543849G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2529G>A	4.37:g.100543849G>A			Somatic				RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.K843K|MTTP_ENST00000511045.1_Silent_p.K870K	p.K843K	NM_000253.2	NP_000244.2	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	19	2785	+			843					A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.2529G>A	CCDS3651.1																																																																																				0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			13	46	13	46	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140257255	140257255	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140257255C>T	ENST00000398631.2	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	733					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGGTGCGCGCCGGGCAAG	0.677																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(2197-2199)gCg>gTg									27.0	27.0	27.0					5																	140257255		2201	4298	6499	SO:0001583	missense	56137							g.chr5:140257255C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2198C>T	5.37:g.140257255C>T	ENSP00000381628:p.Ala733Val		Somatic				PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	p.A733V	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2198	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2198C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	9.232	1.035977	0.19590	.	.	ENSG00000251664	ENST00000398631	T	0.12672	2.66	4.88	1.9	0.25705	.	.	.	.	.	T	0.11110	0.0271	L	0.39898	1.24	0.09310	N	1	B;B	0.15141	0.012;0.003	B;B	0.10450	0.005;0.002	T	0.35276	-0.9795	9	0.20519	T	0.43	.	9.4973	0.38995	0.0:0.3067:0.547:0.1463	.	733;733	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	733	ENSP00000381628:A733V	ENSP00000381628:A733V	A	+	2	0	PCDHA12	140237439	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	0.439000	0.26476	-0.165000	0.13383	GCG		0.677	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	24	8	24	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr5:140590067C>T	ENST00000239450.2	+	1	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1588-1590)Cgc>Tgc									65.0	71.0	69.0					5																	140590067		2203	4300	6503	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590067C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1588C>T	5.37:g.140590067C>T	ENSP00000239450:p.Arg530Cys		Somatic				PCDHB12_ENST00000541609.1_Missense_Mutation_p.R193C	p.R530C	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1777	+			530			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1588C>T	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	7.187	0.590694	0.13812	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	-6.81	0.01704	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01835	0.0058	L	0.55103	1.725	0.09310	N	1	B	0.22276	0.067	B	0.24269	0.052	T	0.45249	-0.9274	9	0.54805	T	0.06	.	3.4651	0.07547	0.1552:0.261:0.4232:0.1606	.	530	Q9Y5F1	PCDBC_HUMAN	C	193;530;150	ENSP00000440199:R193C;ENSP00000239450:R530C	ENSP00000239450:R530C	R	+	1	0	PCDHB12	140570251	0.000000	0.05858	0.274000	0.24659	0.634000	0.38068	-7.024000	0.00046	-1.050000	0.03230	0.485000	0.47835	CGC		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		22	59	22	59	---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81667507	81667507	+	Silent	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:81667507G>A	ENST00000356253.5	-	11	1179	c.924C>T	c.(922-924)gtC>gtT	p.V308V	CACNA2D1_ENST00000356860.3_Silent_p.V308V			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	308	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATTTGCTTGGACAAGGTGCT	0.313																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(922-924)gtC>gtT		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						118.0	117.0	118.0					7																	81667507		2203	4300	6503	SO:0001819	synonymous_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81667507G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.924C>T	7.37:g.81667507G>A			Somatic				CACNA2D1_ENST00000356253.5_Silent_p.V308V	p.V308V	NM_000722.2	NP_000713.2	WXS	Illumina GAIIx	Phase_I	P54289	CA2D1_HUMAN			11	1262	-			308			VWFA.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37	c.924C>T																																																																																					0.313	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				4	86	4	86	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100680623	100680623	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:100680623C>T	ENST00000306151.4	+	3	5990	c.5926C>T	c.(5926-5928)Cca>Tca	p.P1976S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1976	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCCCAGC	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5926-5928)Cca>Tca		mucin 17, cell surface associated							276.0	267.0	270.0					7																	100680623		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680623C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5926C>T	7.37:g.100680623C>T	ENSP00000302716:p.Pro1976Ser		Somatic					p.P1976S	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	5990	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1976			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5926C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217494	0.06101	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	0.512	0.512	0.16994	.	.	.	.	.	T	0.04497	0.0123	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.48647	-0.9017	9	0.16420	T	0.52	.	6.9006	0.24281	0.0:0.9998:0.0:2.0E-4	.	1976	Q685J3	MUC17_HUMAN	S	1976	ENSP00000302716:P1976S	ENSP00000302716:P1976S	P	+	1	0	MUC17	100467343	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.589000	0.02104	0.551000	0.29008	0.134000	0.15878	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	362	6	362	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519011	113519011	+	Silent	SNP	T	T	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:113519011T>C	ENST00000284601.3	-	4	2204	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	712					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGAAGACAGTTCACAGCACA	0.403																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2134-2136)gaA>gaG		protein phosphatase 1, regulatory subunit 3A							203.0	197.0	199.0					7																	113519011		2203	4300	6503	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113519011T>C	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2136A>G	7.37:g.113519011T>C			Somatic					p.E712E	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			4	2204	-			712					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.2136A>G	CCDS5759.1																																																																																				0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		24	156	24	156	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373323	140373323	+	Silent	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:140373323C>T	ENST00000072869.4	+	1	371	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	ADCK2_ENST00000476491.1_Silent_p.L65L	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	65						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCCTGACGTTCTGAGTCGGCG	0.726																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(193-195)Ctg>Ttg		aarF domain containing kinase 2							14.0	16.0	16.0					7																	140373323		2189	4279	6468	SO:0001819	synonymous_variant	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373323C>T	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.193C>T	7.37:g.140373323C>T			Somatic				ADCK2_ENST00000476491.1_Silent_p.L65L	p.L65L	NM_052853.3	NP_443085.2	WXS	Illumina GAIIx	Phase_I	Q7Z695	ADCK2_HUMAN			1	371	+	Melanoma(164;0.00956)		65					Q96CN6|Q9Y6T5	Silent	SNP	ENST00000072869.4	37	c.193C>T	CCDS5861.1																																																																																				0.726	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		4	16	4	16	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	146829413	146829413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr7:146829413C>T	ENST00000361727.3	+	8	1676	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	387					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGGAGGTGCCCGGACGGCTT	0.478										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1159-1161)cCc>cTc		contactin associated protein-like 2							126.0	118.0	121.0					7																	146829413		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829413C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1160C>T	7.37:g.146829413C>T	ENSP00000354778:p.Pro387Leu	HNSCC(39;0.1)	Somatic					p.P387L	NM_014141.5	NP_054860.1	WXS	Illumina GAIIx	Phase_I	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1676	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	387					D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1160C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543774	0.45280	.	.	ENSG00000174469	ENST00000361727	T	0.80653	-1.4	5.7	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000010	T	0.80999	0.4732	M	0.84326	2.69	0.80722	D	1	B	0.26002	0.139	B	0.29176	0.099	T	0.80919	-0.1167	10	0.66056	D	0.02	.	9.8543	0.41077	0.0:0.7676:0.1456:0.0868	.	387	Q9UHC6	CNTP2_HUMAN	L	387	ENSP00000354778:P387L	ENSP00000354778:P387L	P	+	2	0	CNTNAP2	146460346	0.990000	0.36364	0.541000	0.28102	0.939000	0.58152	2.935000	0.48963	2.686000	0.91538	0.591000	0.81541	CCC		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			27	82	27	82	---	---	---	---
OR51L1	119682	broad.mit.edu	37	11	5020428	5020428	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr11:5020428C>A	ENST00000321543.1	+	1	216	c.216C>A	c.(214-216)gaC>gaA	p.D72E		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGTGAATGACCTGGGGATGT	0.453																																						ENST00000321543.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31						c.(214-216)gaC>gaA		olfactory receptor, family 51, subfamily L, member 1							198.0	169.0	179.0					11																	5020428		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020428C>A	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.216C>A	11.37:g.5020428C>A	ENSP00000322156:p.Asp72Glu		Somatic					p.D72E	NM_001004755.1	NP_001004755.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	216	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	72					Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.216C>A	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518973	0.44866	.	.	ENSG00000176798	ENST00000321543	T	0.66460	-0.21	5.57	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.165824	0.29080	N	0.013215	T	0.78824	0.4344	M	0.78916	2.43	0.22803	N	0.998711	D	0.64830	0.994	D	0.72625	0.978	T	0.68191	-0.5474	10	0.51188	T	0.08	.	9.7796	0.40640	0.1395:0.7862:0.0:0.0743	.	72	Q8NGJ5	O51L1_HUMAN	E	72	ENSP00000322156:D72E	ENSP00000322156:D72E	D	+	3	2	OR51L1	4977004	0.858000	0.29795	1.000000	0.80357	0.400000	0.30750	1.191000	0.32138	1.548000	0.49413	0.650000	0.86243	GAC		0.453	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		4	148	4	148	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123661278	123661278	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr12:123661278G>A	ENST00000606320.1	-	16	2619	c.2413C>T	c.(2413-2415)Ctt>Ttt	p.L805F	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	805						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTATGACGAAGGCTTAACATA	0.323																																						ENST00000606320.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(2413-2415)Ctt>Ttt		M-phase phosphoprotein 9							123.0	118.0	120.0					12																	123661278		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123661278G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2413C>T	12.37:g.123661278G>A	ENSP00000475489:p.Leu805Phe		Somatic				MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L653F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L775F	p.L805F			WXS	Illumina GAIIx	Phase_I	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	16	2619	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		653					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.2413C>T		.	.	.	.	.	.	.	.	.	.	G	13.72	2.322708	0.41096	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.35789	1.29;1.3	5.0	4.1	0.47936	.	0.381193	0.24920	N	0.034560	T	0.36552	0.0971	M	0.63843	1.955	0.43628	D	0.996018	B	0.27498	0.18	B	0.33254	0.16	T	0.21348	-1.0248	10	0.51188	T	0.08	-5.3398	8.1223	0.30978	0.0856:0.1607:0.7537:0.0	.	653	Q99550	MPP9_HUMAN	F	653	ENSP00000303597:L653F;ENSP00000445859:L653F	ENSP00000303597:L653F	L	-	1	0	MPHOSPH9	122227231	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.133000	0.31430	1.073000	0.40885	0.491000	0.48974	CTT		0.323	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			8	66	8	66	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8137034	8137034	+	Silent	SNP	C	C	T	rs144060152		TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr19:8137034C>T	ENST00000600128.1	-	63	8400	c.7986G>A	c.(7984-7986)ccG>ccA	p.P2662P	FBN3_ENST00000601739.1_Silent_p.P2662P|FBN3_ENST00000270509.2_Silent_p.P2662P			Q75N90	FBN3_HUMAN	fibrillin 3	2662						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTCTTTGTCCGGGGTGTCCT	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		19219	0.0		0.001	False		,,,				2504	0.0					ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(7984-7986)ccG>ccA		fibrillin 3		C		1,4405	2.1+/-5.4	0,1,2202	123.0	127.0	125.0		7986	-2.8	0.0	19	dbSNP_134	125	5,8595	3.7+/-12.6	0,5,4295	no	coding-synonymous	FBN3	NM_032447.3		0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461		2662/2810	8137034	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8137034C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.7986G>A	19.37:g.8137034C>T			Somatic				FBN3_ENST00000270509.2_Silent_p.P2662P|FBN3_ENST00000601739.1_Silent_p.P2662P	p.P2662P			WXS	Illumina GAIIx	Phase_I	Q75N90	FBN3_HUMAN			63	8400	-			2662					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.7986G>A	CCDS12196.1																																																																																				0.667	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	116	10	116	---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42866285	42866285	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chr21:42866285G>C	ENST00000332149.5	-	3	370	c.236C>G	c.(235-237)tCa>tGa	p.S79*	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000398585.3_Nonsense_Mutation_p.S116*|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	79					positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				AATCCTACTTGAGGTGCACAC	0.617			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																	ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(346-348)tCa>tGa		transmembrane protease, serine 2							42.0	41.0	41.0					21																	42866285		2203	4300	6503	SO:0001587	stop_gained	7113				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42866285G>C	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.236C>G	21.37:g.42866285G>C	ENSP00000330330:p.Ser79*		Somatic				TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.S79*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.S79*	p.S116*	NM_001135099.1	NP_001128571.1	WXS	Illumina GAIIx	Phase_I	O15393	TMPS2_HUMAN			3	407	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	79			LDL-receptor class A.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Nonsense_Mutation	SNP	ENST00000332149.5	37	c.347C>G	CCDS33564.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362345	0.82353	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499;ENST00000424093;ENST00000455813	.	.	.	4.72	3.84	0.44239	.	0.530450	0.15730	N	0.247468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	9.1976	0.37237	0.1017:0.0:0.8983:0.0	.	.	.	.	X	79;116;79;79;79;79	.	ENSP00000330330:S79X	S	-	2	0	TMPRSS2	41788155	0.973000	0.33851	0.955000	0.39395	0.169000	0.22640	1.922000	0.40045	1.114000	0.41781	0.650000	0.86243	TCA		0.617	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			3	18	3	18	---	---	---	---
AKAP17A	8227	broad.mit.edu	37	X	1712837	1712837	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-A8D0-01A-11D-A364-08	TCGA-HC-A8D0-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d04bc84-6f8d-4ff3-8044-44e342859531	15291a8d-12a8-4092-914c-995dbb9b607b	g.chrX:1712837T>A	ENST00000313871.3	+	2	678	c.482T>A	c.(481-483)cTg>cAg	p.L161Q	AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	161	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						TGGTTCGCCCTGAAGGAGTCG	0.642																																						ENST00000313871.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						c.(481-483)cTg>cAg		A kinase (PRKA) anchor protein 17A							110.0	114.0	113.0					X																	1712837		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712837T>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.482T>A	X.37:g.1712837T>A	ENSP00000324827:p.Leu161Gln		Somatic				AKAP17A_ENST00000381261.3_Missense_Mutation_p.L161Q	p.L161Q	NM_005088.2	NP_005079.2	WXS	Illumina GAIIx	Phase_I	Q02040	AK17A_HUMAN			2	678	+			161			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.482T>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	t	0.008	-1.866375	0.00547	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.35236	1.32;1.32	2.04	-2.63	0.06133	.	0.539313	0.17269	U	0.180441	T	0.13841	0.0335	.	.	.	0.09310	N	1	B;B	0.15930	0.015;0.003	B;B	0.11329	0.004;0.006	T	0.23119	-1.0197	9	0.12430	T	0.62	.	3.7378	0.08517	0.0:0.2149:0.4046:0.3806	.	161;161	Q02040-3;Q02040	.;AK17A_HUMAN	Q	161	ENSP00000324827:L161Q;ENSP00000370660:L161Q	ENSP00000324827:L161Q	L	+	2	0	AKAP17A	1672837	0.033000	0.19621	0.109000	0.21407	0.561000	0.35649	0.029000	0.13666	-0.162000	0.10964	0.084000	0.15446	CTG		0.642	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		23	117	23	117	---	---	---	---
