#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
KIF17	57576	broad.mit.edu	37	1	21009257	21009257	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:21009257G>A	ENST00000247986.2	-	11	2662	c.2352C>T	c.(2350-2352)gcC>gcT	p.A784A	KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000400463.3_Silent_p.A784A|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	784					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGTTCTGCAGGGCAGCCACCA	0.607																																						ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2350-2352)gcC>gcT		kinesin family member 17							78.0	69.0	72.0					1																	21009257		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:21009257G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2352C>T	1.37:g.21009257G>A						KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.A684A|KIF17_ENST00000400463.3_Silent_p.A784A	p.A784A			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	11	2662	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	784					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2352C>T	CCDS213.1																																																																																				0.607	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		14	42	14	42	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22168751	22168751	+	Silent	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:22168751G>T	ENST00000374695.3	-	68	9112	c.9033C>A	c.(9031-9033)ccC>ccA	p.P3011P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3011	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCCCTCACTGGGCGGGACGG	0.652																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(9031-9033)ccC>ccA		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						58.0	54.0	55.0					1																	22168751		2203	4300	6503	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22168751G>T	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9033C>A	1.37:g.22168751G>T							p.P3011P	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	68	9112	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	3011			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.9033C>A	CCDS30625.1																																																																																				0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	54	4	54	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111217006	111217006	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:111217006C>T	ENST00000369769.2	-	1	649	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	142					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CGTTGCGGAGCGGGTCGAAGT	0.652																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(424-426)ccG>ccA		potassium voltage-gated channel, shaker-related subfamily, member 3							58.0	67.0	64.0					1																	111217006		2203	4300	6503	SO:0001819	synonymous_variant	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111217006C>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.426G>A	1.37:g.111217006C>T							p.P142P	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	649	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	142					Q5VWN2	Silent	SNP	ENST00000369769.2	37	c.426G>A	CCDS828.2																																																																																				0.652	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		6	110	6	110	---	---	---	---
AP4B1	10717	broad.mit.edu	37	1	114442579	114442579	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:114442579C>T	ENST00000369569.1	-	5	1341	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E|AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	354					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGTGCAGTACCCTCGAAGCTC	0.527																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1060-1062)gGg>gAg		adaptor-related protein complex 4, beta 1 subunit							277.0	269.0	272.0					1																	114442579		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442579C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1061G>A	1.37:g.114442579C>T	ENSP00000358582:p.Gly354Glu					AP4B1_ENST00000256658.4_Missense_Mutation_p.G354E|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Missense_Mutation_p.G261E|AP4B1_ENST00000369567.1_Missense_Mutation_p.G186E	p.G354E	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1341	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	354					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1061G>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469874	0.43839	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564	T;T;T;T;T	0.22945	1.93;1.93;1.93;2.86;1.93	5.03	4.09	0.47781	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.200747	0.53938	D	0.000060	T	0.02119	0.0066	N	0.01140	-0.99	0.48395	D	0.999644	B;B;B;B	0.33022	0.025;0.005;0.394;0.003	B;B;B;B	0.31946	0.021;0.008;0.138;0.005	T	0.40156	-0.9578	10	0.02654	T	1	.	7.0196	0.24907	0.1499:0.7091:0.0:0.1409	.	261;186;354;255	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	E	186;354;354;261;279	ENSP00000358580:G186E;ENSP00000358582:G354E;ENSP00000256658:G354E;ENSP00000358579:G261E;ENSP00000358577:G279E	ENSP00000256658:G354E	G	-	2	0	AP4B1	114244102	0.573000	0.26676	0.998000	0.56505	0.988000	0.76386	2.321000	0.43805	2.487000	0.83934	0.462000	0.41574	GGG		0.527	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		145	208	145	208	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166890544	166890544	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:166890544G>C	ENST00000271417.3	-	9	1339	c.1284C>G	c.(1282-1284)gaC>gaG	p.D428E	ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	428					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCGCCAGCTCGTCCATGGAAA	0.711																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1282-1284)gaC>gaG		immunoglobulin-like domain containing receptor 2							15.0	18.0	17.0					1																	166890544		2187	4271	6458	SO:0001583	missense	387597					integral to membrane		g.chr1:166890544G>C	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1284C>G	1.37:g.166890544G>C	ENSP00000271417:p.Asp428Glu					ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.D369E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D320E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D409E|ILDR2_ENST00000525740.1_Missense_Mutation_p.D301E	p.D428E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			9	1339	-			428						Missense_Mutation	SNP	ENST00000271417.3	37	c.1284C>G	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850155	0.51270	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529071;ENST00000526687;ENST00000528703	T;D;T;D;T	0.84730	0.1;-1.89;0.03;-1.88;-0.82	4.37	-0.477	0.12097	.	0.112612	0.64402	D	0.000017	T	0.66386	0.2784	M	0.64997	1.995	0.34697	D	0.726355	B	0.31077	0.307	B	0.32864	0.154	T	0.53187	-0.8474	10	0.21014	T	0.42	.	7.5721	0.27913	0.3437:0.1217:0.5346:0.0	.	428	Q71H61	ILDR2_HUMAN	E	428;301;409;320;369	ENSP00000271417:D428E;ENSP00000436120:D301E;ENSP00000436882:D409E;ENSP00000434273:D320E;ENSP00000432750:D369E	ENSP00000271417:D428E	D	-	3	2	ILDR2	165157168	0.966000	0.33281	0.999000	0.59377	0.492000	0.33523	-0.072000	0.11486	-0.000000	0.14550	-0.252000	0.11476	GAC		0.711	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		5	10	5	10	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170959063	170959063	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:170959063T>C	ENST00000367758.3	+	11	1046	c.947T>C	c.(946-948)tTg>tCg	p.L316S	MROH9_ENST00000367759.4_Missense_Mutation_p.L316S	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	316																	GATGTTATGTTGCAGGTTATC	0.438																																						ENST00000367759.4																			0											c.(946-948)tTg>tCg		maestro heat-like repeat family member 9							169.0	162.0	164.0					1																	170959063		1922	4143	6065	SO:0001583	missense	80133							g.chr1:170959063T>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.947T>C	1.37:g.170959063T>C	ENSP00000356732:p.Leu316Ser					MROH9_ENST00000367758.3_Missense_Mutation_p.L316S	p.L316S	NM_001163629.1	NP_001157101.1					11	1101	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.947T>C	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	T	15.89	2.967274	0.53507	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.30182	3.63;1.54	5.18	5.18	0.71444	Armadillo-like helical (1);	0.135801	0.32287	N	0.006316	T	0.41328	0.1154	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38156	-0.9674	10	0.87932	D	0	-10.6885	11.419	0.49969	0.0:0.0:0.0:1.0	.	316;316	F5GWX6;Q5TGP6	.;CA129_HUMAN	S	316	ENSP00000356733:L316S;ENSP00000356732:L316S	ENSP00000356732:L316S	L	+	2	0	C1orf129	169225687	0.053000	0.20554	0.004000	0.12327	0.016000	0.09150	3.636000	0.54317	1.945000	0.56424	0.383000	0.25322	TTG		0.438	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		41	49	41	49	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216166392	216166392	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr1:216166392C>T	ENST00000307340.3	-	35	7161	c.6775G>A	c.(6775-6777)Gtc>Atc	p.V2259I	USH2A_ENST00000366943.2_Missense_Mutation_p.V2259I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2259	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|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)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V2259I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCCAGGAGACATTAAAGGAG	0.463										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000366943.2																			1	Substitution - Missense(1)	p.V2259I(1)	endometrium(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6775-6777)Gtc>Atc		Usher syndrome 2A (autosomal recessive, mild)							243.0	246.0	245.0					1																	216166392		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216166392C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6775G>A	1.37:g.216166392C>T	ENSP00000305941:p.Val2259Ile	HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234	USH2A_ENST00000307340.3_Missense_Mutation_p.V2259I	p.V2259I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7161	-			2259			Fibronectin type-III 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6775G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065715	0.08388	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	6.17	0.0794	0.14416	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.152277	0.29684	N	0.011469	T	0.27027	0.0662	N	0.05441	-0.05	0.24107	N	0.995853	B	0.02656	0.0	B	0.04013	0.001	T	0.17379	-1.0371	10	0.18276	T	0.48	.	10.8535	0.46784	0.0:0.4416:0.0:0.5584	.	2259	O75445	USH2A_HUMAN	I	2259	ENSP00000305941:V2259I;ENSP00000355910:V2259I	ENSP00000305941:V2259I	V	-	1	0	USH2A	214233015	1.000000	0.71417	0.335000	0.25508	0.998000	0.95712	0.631000	0.24568	-0.210000	0.10140	0.655000	0.94253	GTC		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		107	181	107	181	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38158019	38158019	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr3:38158019G>C	ENST00000308059.6	+	28	3953	c.3932G>C	c.(3931-3933)gGg>gCg	p.G1311A	DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGTTTTATGGGCCACCTTTC	0.612																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3931-3933)gGg>gCg		deleted in lung and esophageal cancer 1							47.0	51.0	50.0					3																	38158019		1998	4160	6158	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158019G>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3932G>C	3.37:g.38158019G>C	ENSP00000308597:p.Gly1311Ala					DLEC1_ENST00000452631.2_Missense_Mutation_p.G1314A|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1311A	p.G1311A			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	3953	+			1311						Missense_Mutation	SNP	ENST00000308059.6	37	c.3932G>C	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852242	0.71719	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.11385	2.82;2.78;3.05	5.08	5.08	0.68730	.	0.219002	0.37761	N	0.001958	T	0.35480	0.0933	M	0.77103	2.36	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.996;0.996;0.994	T	0.08371	-1.0725	10	0.49607	T	0.09	-30.8823	17.234	0.86992	0.0:0.0:1.0:0.0	.	1314;1311;1311;1311	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	A	1311;1311;1314	ENSP00000308597:G1311A;ENSP00000315914:G1311A;ENSP00000410427:G1314A	ENSP00000308597:G1311A	G	+	2	0	DLEC1	38133023	1.000000	0.71417	0.947000	0.38551	0.496000	0.33645	7.649000	0.83500	2.357000	0.79964	0.462000	0.41574	GGG		0.612	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		31	27	31	27	---	---	---	---
ZBED9	114821	broad.mit.edu	37	6	28554185	28554185	+	Silent	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:28554185G>A	ENST00000452236.2	-	1	927	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCTCAGGCAGGATGGTCAGG	0.537																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(310-312)Ctg>Ttg		SCAN domain containing 3							113.0	115.0	114.0					6																	28554185		2203	4300	6503	SO:0001819	synonymous_variant	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554185G>A																												ENST00000452236.2:c.310C>T	6.37:g.28554185G>A						SCAND3_ENST00000530247.1_Intron	p.L104L	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	927	-			104			SCAN box.			Silent	SNP	ENST00000452236.2	37	c.310C>T	CCDS34355.1																																																																																				0.537	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			5	132	5	132	---	---	---	---
EYS	346007	broad.mit.edu	37	6	66204918	66204918	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:66204918C>T	ENST00000370621.3	-	4	912	c.386G>A	c.(385-387)aGa>aAa	p.R129K	EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000503581.1_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	129					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTTTTAGTCTGCAGCCAAA	0.393																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(385-387)aGa>aAa		eyes shut homolog (Drosophila)							72.0	65.0	67.0					6																	66204918		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204918C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.386G>A	6.37:g.66204918C>T	ENSP00000359655:p.Arg129Lys					EYS_ENST00000370618.3_Missense_Mutation_p.R129K|EYS_ENST00000370616.2_Missense_Mutation_p.R129K|EYS_ENST00000393380.2_Missense_Mutation_p.R129K|EYS_ENST00000342421.5_Missense_Mutation_p.R129K|EYS_ENST00000370621.3_Missense_Mutation_p.R129K	p.R129K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	923	-			129					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.386G>A		.	.	.	.	.	.	.	.	.	.	C	1.684	-0.505724	0.04261	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.89270	-1.49;-1.48;-1.48;-2.49;-2.45;-2.45	4.92	2.55	0.30701	.	.	.	.	.	T	0.44540	0.1298	N	0.02539	-0.55	0.09310	N	0.999997	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49513	-0.8932	9	0.02654	T	1	.	7.5679	0.27890	0.0:0.1467:0.0:0.8533	.	129;129;129	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	129	ENSP00000424243:R129K;ENSP00000359655:R129K;ENSP00000359650:R129K;ENSP00000377042:R129K;ENSP00000341818:R129K;ENSP00000359652:R129K	ENSP00000341818:R129K	R	-	2	0	EYS	66261639	0.905000	0.30787	0.067000	0.19924	0.913000	0.54294	1.423000	0.34837	0.320000	0.23234	-0.229000	0.12294	AGA		0.393	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		12	16	12	16	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87968799	87968799	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:87968799G>T	ENST00000369577.3	+	8	5495	c.5452G>T	c.(5452-5454)Gtc>Ttc	p.V1818F	ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1818						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTTTATAAGTGTCATGCCAAC	0.318																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(5452-5454)Gtc>Ttc		zinc finger protein 292							28.0	29.0	28.0					6																	87968799		1851	4087	5938	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968799G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5452G>T	6.37:g.87968799G>T	ENSP00000358590:p.Val1818Phe					ZNF292_ENST00000339907.4_Missense_Mutation_p.V1813F	p.V1818F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5495	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1818					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5452G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.822	-0.748348	0.03065	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.10192	2.9;2.91	5.86	1.07	0.20283	.	0.427203	0.21916	N	0.067240	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	B	0.29805	0.257	B	0.30401	0.115	T	0.38329	-0.9666	10	0.72032	D	0.01	.	11.0607	0.47946	0.3771:0.0:0.6229:0.0	.	1818	O60281	ZN292_HUMAN	F	1818;1813	ENSP00000358590:V1818F;ENSP00000342847:V1813F	ENSP00000342847:V1813F	V	+	1	0	ZNF292	88025518	0.004000	0.15560	0.001000	0.08648	0.002000	0.02628	0.842000	0.27627	0.195000	0.20347	-0.145000	0.13849	GTC		0.318	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	13	5	13	---	---	---	---
DDO	8528	broad.mit.edu	37	6	110726001	110726001	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr6:110726001G>A	ENST00000368924.3	-	4	533	c.518C>T	c.(517-519)gCc>gTc	p.A173V	DDO_ENST00000368923.3_Intron	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	145					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CGGGAGGTAGGCAGGGCATTC	0.433																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(517-519)gCc>gTc		D-aspartate oxidase							98.0	91.0	94.0					6																	110726001		2203	4300	6503	SO:0001583	missense	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110726001G>A	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.518C>T	6.37:g.110726001G>A	ENSP00000357920:p.Ala173Val					DDO_ENST00000368923.3_Intron	p.A173V	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	4	533	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	145					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Missense_Mutation	SNP	ENST00000368924.3	37	c.518C>T	CCDS5082.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.823336	0.32237	.	.	ENSG00000203797	ENST00000368924;ENST00000368925	D;D	0.81996	-1.56;-1.56	5.62	-0.218	0.13142	.	0.836675	0.11250	N	0.583692	T	0.36608	0.0973	N	0.03000	-0.44	0.19300	N	0.99997	B	0.02656	0.0	B	0.06405	0.002	T	0.37888	-0.9686	10	0.12766	T	0.61	-1.4661	10.9066	0.47084	0.5021:0.0:0.4979:0.0	.	173	Q99489-3	.	V	173;145	ENSP00000357920:A173V;ENSP00000357921:A145V	ENSP00000357920:A173V	A	-	2	0	DDO	110832694	0.004000	0.15560	0.121000	0.21740	0.906000	0.53458	0.120000	0.15647	-0.127000	0.11661	0.561000	0.74099	GCC		0.433	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			20	3	20	3	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24892244	24892244	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:24892244G>A	ENST00000313367.2	-	11	1488	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I	OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I|OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	346					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TGACCTTAAAGTGAAGTAAAC	0.368																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1036-1038)aCt>aTt		oxysterol binding protein-like 3							51.0	46.0	47.0					7																	24892244		2203	4300	6503	SO:0001583	missense	26031				lipid transport		lipid binding|protein binding	g.chr7:24892244G>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1037C>T	7.37:g.24892244G>A	ENSP00000315410:p.Thr346Ile					OSBPL3_ENST00000396429.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000409069.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000353930.1_Missense_Mutation_p.T346I|OSBPL3_ENST00000396431.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000352860.1_Missense_Mutation_p.T315I|OSBPL3_ENST00000431825.2_Missense_Mutation_p.T315I	p.T346I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			11	1488	-			346					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	ENST00000313367.2	37	c.1037C>T	CCDS5390.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304260	0.60305	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	T;T;T;T;T;T;T	0.44881	2.25;0.93;0.91;2.25;0.93;0.91;2.25	5.16	5.16	0.70880	.	0.231677	0.46145	D	0.000317	T	0.53706	0.1813	L	0.58101	1.795	0.47308	D	0.99938	P;P;B;P;B;B	0.44877	0.842;0.845;0.372;0.558;0.372;0.423	P;P;B;B;B;B	0.51355	0.603;0.667;0.339;0.415;0.387;0.236	T	0.48703	-0.9012	10	0.33940	T	0.23	-3.3502	18.6679	0.91499	0.0:0.0:1.0:0.0	.	315;346;315;315;346;346	Q9H4L5-8;Q9H4L5-7;Q9H4L5-4;Q9H4L5-2;Q9H4L5-3;Q9H4L5	.;.;.;.;.;OSBL3_HUMAN	I	346;315;346;315;315;346;315	ENSP00000315410:T346I;ENSP00000315331:T315I;ENSP00000315277:T346I;ENSP00000389779:T315I;ENSP00000379708:T315I;ENSP00000379706:T346I;ENSP00000386953:T315I	ENSP00000315410:T346I	T	-	2	0	OSBPL3	24858769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.363000	0.66104	2.420000	0.82092	0.561000	0.74099	ACT		0.368	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			10	57	10	57	---	---	---	---
GHRHR	2692	broad.mit.edu	37	7	31016135	31016135	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:31016135A>G	ENST00000326139.2	+	11	1112	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R|GHRHR_ENST00000409904.3_Missense_Mutation_p.I292V|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	356					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TGGCCTGGGCATCCGCCTCCC	0.572																																						ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(874-876)Atc>Gtc		growth hormone releasing hormone receptor	Sermorelin(DB00010)						53.0	46.0	48.0					7																	31016135		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31016135A>G		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.1066A>G	7.37:g.31016135A>G	ENSP00000320180:p.Ile356Val					GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.I356V|GHRHR_ENST00000409316.1_Missense_Mutation_p.H122R	p.I292V			Q02643	GHRHR_HUMAN			8	1132	+			356					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.874A>G	CCDS5432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.277|3.277	-0.147942|-0.147942	0.06627|0.06627	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000409233;ENST00000409316|ENST00000326139;ENST00000409904	.|T;T	.|0.40225	.|1.04;1.04	5.05|5.05	-4.61|-4.61	0.03380|0.03380	.|GPCR, family 2-like (1);	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	N|N	0.16098|0.16098	0.37|0.37	0.80722|0.80722	D|D	1|1	B|B;B	0.09022|0.09022	0.002|0.002;0.002	B|B;B	0.08055|0.10450	0.003|0.005;0.004	T|T	0.37776|0.37776	-0.9691|-0.9691	8|9	0.87932|0.06236	D|T	0|0.91	.|.	6.3329|6.3329	0.21281|0.21281	0.2947:0.3359:0.3693:0.0|0.2947:0.3359:0.3693:0.0	.|.	122|292;356	Q9HB43|Q9HB45;Q02643	.|.;GHRHR_HUMAN	R|V	143;122|356;292	.|ENSP00000320180:I356V;ENSP00000387113:I292V	ENSP00000386919:H143R|ENSP00000320180:I356V	H|I	+|+	2|1	0|0	GHRHR|GHRHR	30982660|30982660	0.000000|0.000000	0.05858|0.05858	0.820000|0.820000	0.32676|0.32676	0.975000|0.975000	0.68041|0.68041	-0.921000|-0.921000	0.04008|0.04008	-0.662000|-0.662000	0.05338|0.05338	0.446000|0.446000	0.29264|0.29264	CAT|ATC		0.572	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			11	21	11	21	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33296923	33296923	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:33296923G>T	ENST00000242067.6	+	6	1039	c.518G>T	c.(517-519)aGa>aTa	p.R173I	BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000350941.3_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	173					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GCTTTTGGAAGATTTCTCCCT	0.428									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(517-519)aGa>aTa		Bardet-Biedl syndrome 9							178.0	170.0	173.0					7																	33296923		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33296923G>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.518G>T	7.37:g.33296923G>T	ENSP00000242067:p.Arg173Ile					BBS9_ENST00000350941.3_Missense_Mutation_p.R173I|BBS9_ENST00000425508.2_Missense_Mutation_p.R128I|BBS9_ENST00000355070.2_Missense_Mutation_p.R173I|BBS9_ENST00000396127.2_Missense_Mutation_p.R173I|BBS9_ENST00000354265.4_Missense_Mutation_p.R173I	p.R173I	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		6	1039	+			173					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.518G>T	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344717	0.95807	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.80764	0.983;0.994;0.994;0.994;0.991	D	0.89140	0.3516	10	0.31617	T	0.26	-18.4266	20.2019	0.98263	0.0:0.0:1.0:0.0	.	173;173;173;173;173	B3KQ86;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4	.;.;.;.;PTHB1_HUMAN	I	173;173;173;173;173;173;173;128;51;51	ENSP00000242067:R173I;ENSP00000313122:R173I;ENSP00000379433:R173I;ENSP00000347182:R173I;ENSP00000346214:R173I;ENSP00000405151:R128I;ENSP00000388646:R51I	ENSP00000242067:R173I	R	+	2	0	BBS9	33263448	1.000000	0.71417	0.931000	0.37212	0.914000	0.54420	9.837000	0.99465	2.776000	0.95493	0.655000	0.94253	AGA		0.428	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			39	69	39	69	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111629104	111629104	+	Missense_Mutation	SNP	G	G	A	rs202157965		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr7:111629104G>A	ENST00000437633.1	-	6	686	c.430C>T	c.(430-432)Cgc>Tgc	p.R144C	DOCK4_ENST00000428084.1_Missense_Mutation_p.R144C|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	144					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R132C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGTGGCGCTTCACGTCC	0.572																																						ENST00000428084.1																			1	Substitution - Missense(1)	p.R132C(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(430-432)Cgc>Tgc		dedicator of cytokinesis 4		G	CYS/ARG	0,4152		0,0,2076	65.0	67.0	66.0		430	4.8	1.0	7		66	3,8389		0,3,4193	yes	missense	DOCK4	NM_014705.3	180	0,3,6269	AA,AG,GG		0.0357,0.0,0.0239	possibly-damaging	144/1967	111629104	3,12541	2076	4196	6272	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111629104G>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.430C>T	7.37:g.111629104G>A	ENSP00000404179:p.Arg144Cys					DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R144C	p.R144C			Q8N1I0	DOCK4_HUMAN			6	702	-		Acute lymphoblastic leukemia(1;0.0441)	144					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.430C>T	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536147	0.85812	0.0	3.57E-4	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.03181	4.02;4.02	5.76	4.85	0.62838	.	0.117594	0.64402	D	0.000013	T	0.11153	0.0272	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.55455	0.586;0.776;0.772;0.696	T	0.00115	-1.2039	10	0.72032	D	0.01	.	13.1119	0.59278	0.0:0.0:0.7138:0.2862	.	144;144;144;144	A4D0S8;Q149N6;Q149N5;Q8N1I0	.;.;.;DOCK4_HUMAN	C	132;144;144;132;143	ENSP00000410746:R144C;ENSP00000404179:R144C	ENSP00000345432:R132C	R	-	1	0	DOCK4	111416340	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.688000	0.74557	2.706000	0.92434	0.655000	0.94253	CGC		0.572	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		13	17	13	17	---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14940329	14940329	+	Silent	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14940329C>A	ENST00000261167.2	-	12	1829	c.1596G>T	c.(1594-1596)ggG>ggT	p.G532G		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	532	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CACTTAAAACCCCAGGGTTTG	0.592																																						ENST00000261167.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						c.(1594-1596)ggG>ggT		WW domain binding protein 11							145.0	153.0	150.0					12																	14940329		2203	4300	6503	SO:0001819	synonymous_variant	51729				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	g.chr12:14940329C>A	AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1596G>T	12.37:g.14940329C>A							p.G532G	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN			12	1829	-			532			Pro-rich.		Q96AY8	Silent	SNP	ENST00000261167.2	37	c.1596G>T	CCDS8666.1																																																																																				0.592	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312		129	156	129	156	---	---	---	---
ART4	420	broad.mit.edu	37	12	14993733	14993733	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:14993733T>C	ENST00000228936.4	-	2	880	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	C12orf60_ENST00000527783.1_Intron|RP11-233G1.4_ENST00000444324.2_RNA	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	167					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AGCAGCTGGATTGCTGAGGTG	0.473																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(499-501)Atc>Gtc		ADP-ribosyltransferase 4							108.0	104.0	105.0					12																	14993733		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993733T>C	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.499A>G	12.37:g.14993733T>C	ENSP00000228936:p.Ile167Val					C12orf60_ENST00000527783.1_Intron	p.I167V	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			2	880	-			167					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.499A>G	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	T	3.599	-0.081978	0.07141	.	.	ENSG00000111339	ENST00000228936;ENST00000420600	T;T	0.07908	3.15;3.15	4.22	-1.14	0.09741	.	0.313774	0.34110	N	0.004244	T	0.05135	0.0137	L	0.28740	0.885	0.21105	N	0.999784	B;B	0.13145	0.007;0.007	B;B	0.18561	0.022;0.022	T	0.31364	-0.9946	10	0.37606	T	0.19	-4.0294	5.4367	0.16486	0.0:0.2435:0.2533:0.5032	.	167;167	A8K6J7;Q93070	.;NAR4_HUMAN	V	167;150	ENSP00000228936:I167V;ENSP00000405689:I150V	ENSP00000228936:I167V	I	-	1	0	ART4	14885000	0.023000	0.18921	0.851000	0.33527	0.335000	0.28730	-0.277000	0.08502	-0.480000	0.06803	-1.777000	0.00654	ATC		0.473	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		29	56	29	56	---	---	---	---
OR10P1	121130	broad.mit.edu	37	12	56031259	56031259	+	Missense_Mutation	SNP	G	G	A	rs374333859		TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr12:56031259G>A	ENST00000309675.2	+	1	616	c.584G>A	c.(583-585)aGg>aAg	p.R195K	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGGAAGCACAGGAGCGAGATC	0.532																																						ENST00000309675.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(583-585)aGg>aAg		olfactory receptor, family 10, subfamily P, member 1		G	LYS/ARG	0,4406		0,0,2203	120.0	93.0	102.0		584	-2.0	0.0	12		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10P1	NM_206899.1	26	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	195/314	56031259	1,13005	2203	4300	6503	SO:0001583	missense	121130				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:56031259G>A	BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.584G>A	12.37:g.56031259G>A	ENSP00000308082:p.Arg195Lys						p.R195K	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN			1	616	+			195					B9EGY4	Missense_Mutation	SNP	ENST00000309675.2	37	c.584G>A	CCDS31828.1	.	.	.	.	.	.	.	.	.	.	G	0.962	-0.702873	0.03255	0.0	1.16E-4	ENSG00000175398	ENST00000309675	T	0.00084	8.75	4.44	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	0.521251	0.17730	N	0.163921	T	0.00073	0.0002	N	0.05554	-0.025	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20974	-1.0259	10	0.40728	T	0.16	.	3.2501	0.06811	0.3424:0.0:0.3642:0.2934	.	195	Q8NGE3	O10P1_HUMAN	K	195	ENSP00000308082:R195K	ENSP00000308082:R195K	R	+	2	0	OR10P1	54317526	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-0.542000	0.06249	-1.108000	0.02087	AGG		0.532	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406680.1			28	60	28	60	---	---	---	---
HAUS4	54930	broad.mit.edu	37	14	23417142	23417142	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr14:23417142C>A	ENST00000206474.7	-	7	895	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	RP11-298I3.1_ENST00000548322.1_RNA|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000554446.1_Intron|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	215					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTCTTGGCATCCTGGCACTGC	0.552																																						ENST00000206474.7																			0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(643-645)Gat>Tat		HAUS augmin-like complex, subunit 4							87.0	72.0	77.0					14																	23417142		2203	4300	6503	SO:0001583	missense	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23417142C>A	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.643G>T	14.37:g.23417142C>A	ENSP00000206474:p.Asp215Tyr					RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000490506.1_Missense_Mutation_p.D91Y|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.D215Y|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.G44V|HAUS4_ENST00000555986.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.D170Y|HAUS4_ENST00000555367.1_Missense_Mutation_p.D170Y|HAUS4_ENST00000347758.2_Intron|RP11-298I3.1_ENST00000548322.1_RNA	p.D215Y			Q9H6D7	HAUS4_HUMAN			7	895	-			215					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	ENST00000206474.7	37	c.643G>T	CCDS9580.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726893	0.69074	.	.	ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040	.	.	.	5.24	4.34	0.51931	.	0.247908	0.47455	D	0.000236	T	0.42698	0.1214	N	0.22421	0.69	0.80722	D	1	P;P	0.52692	0.891;0.955	B;P	0.47251	0.444;0.542	T	0.37753	-0.9692	9	0.52906	T	0.07	-3.5026	10.3007	0.43650	0.0:0.9052:0.0:0.0948	.	170;215	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	Y	215;91;215;170;170;170;215	.	ENSP00000206474:D215Y	D	-	1	0	HAUS4	22486982	0.871000	0.30034	1.000000	0.80357	0.995000	0.86356	1.011000	0.29911	2.456000	0.83038	0.585000	0.79938	GAT		0.552	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3			27	38	27	38	---	---	---	---
SLC28A2	9153	broad.mit.edu	37	15	45555257	45555257	+	Splice_Site	SNP	A	A	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr15:45555257A>T	ENST00000347644.3	+	5	327		c.e5-1		CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TTCTCTTTTTAGCCTATGCTG	0.473																																					NSCLC(92;493 1501 26361 28917 47116)	ENST00000347644.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26						c.e5-1		solute carrier family 28 (concentrative nucleoside transporter), member 2							98.0	87.0	90.0					15																	45555257		2198	4298	6496	SO:0001630	splice_region_variant	9153				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	g.chr15:45555257A>T	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.263-1A>T	15.37:g.45555257A>T						CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA		NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	5	327	+		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)						A8K7F9|O43239|Q52LZ0	Splice_Site	SNP	ENST00000347644.3	37		CCDS10121.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692461	0.68271	.	.	ENSG00000137860	ENST00000347644	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1486	0.65367	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC28A2	43342549	1.000000	0.71417	0.995000	0.50966	0.967000	0.64934	7.835000	0.86780	2.232000	0.73038	0.528000	0.53228	.		0.473	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2	NM_004212	Intron	13	52	13	52	---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58633154	58633154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:58633154G>A	ENST00000317147.5	-	2	420	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	30					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTATTTCCTGCTGGCTGGCT	0.448																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(88-90)Cag>Tag		CCR4-NOT transcription complex, subunit 1							114.0	102.0	107.0					16																	58633154		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58633154G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.88C>T	16.37:g.58633154G>A	ENSP00000320949:p.Gln30*					CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q30*|CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q30*	p.Q30*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	2	420	-			30					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.88C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619333	0.96649	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.01	5.01	0.66863	.	0.128450	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.8142	18.6815	0.91547	0.0:0.0:1.0:0.0	.	.	.	.	X	30	.	.	Q	-	1	0	CNOT1	57190655	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.752000	0.98900	2.476000	0.83614	0.557000	0.71058	CAG		0.448	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		6	99	6	99	---	---	---	---
EXOC3L1	283849	broad.mit.edu	37	16	67220718	67220718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:67220718G>A	ENST00000314586.6	-	7	1468	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	KIAA0895L_ENST00000563902.1_5'Flank|KIAA0895L_ENST00000561621.1_5'Flank|EXOC3L1_ENST00000562887.1_5'Flank|KIAA0895L_ENST00000290881.7_5'Flank	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	410					exocytosis (GO:0006887)|peptide hormone secretion (GO:0030072)	exocyst (GO:0000145)|secretory granule (GO:0030141)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCTGTGTTGGGCCCATGCTCC	0.622																																						ENST00000314586.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						c.(1228-1230)Ccc>Tcc		exocyst complex component 3-like 1							65.0	66.0	66.0					16																	67220718		2198	4300	6498	SO:0001583	missense	283849				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle		g.chr16:67220718G>A	AK092858	CCDS10832.1	16q22.1	2011-01-31	2011-01-31	2011-01-31	ENSG00000179044	ENSG00000179044			27540	protein-coding gene	gene with protein product		614117	"""exocyst complex component 3-like"""	EXOC3L		12477932	Standard	NM_178516		Approved	FLJ35539, FLJ35587	uc002erx.1	Q86VI1	OTTHUMG00000137508	ENST00000314586.6:c.1228C>T	16.37:g.67220718G>A	ENSP00000325674:p.Pro410Ser						p.P410S	NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN			7	1468	-			410					A8K7I9|Q8NAD2|Q8TEN2	Missense_Mutation	SNP	ENST00000314586.6	37	c.1228C>T	CCDS10832.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491733	0.64074	.	.	ENSG00000179044	ENST00000314586	T	0.13657	2.57	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23297	-1.0192	10	0.66056	D	0.02	-15.3742	17.2668	0.87089	0.0:0.0:1.0:0.0	.	410	Q86VI1	EX3L1_HUMAN	S	410	ENSP00000325674:P410S	ENSP00000325674:P410S	P	-	1	0	EXOC3L1	65778219	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.524000	0.81866	2.428000	0.82296	0.449000	0.29647	CCC		0.622	EXOC3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268827.2	NM_178516		36	51	36	51	---	---	---	---
HPR	3250	broad.mit.edu	37	16	72108237	72108237	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr16:72108237T>C	ENST00000540303.2	+	3	178	c.146T>C	c.(145-147)tTt>tCt	p.F49S	HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S|HPR_ENST00000561690.1_Missense_Mutation_p.F49S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	49	Sushi.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GAGCACTTGTTTCGCTACCAG	0.483																																						ENST00000540303.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20						c.(145-147)tTt>tCt		haptoglobin-related protein							221.0	136.0	163.0					16																	72108237		1966	4141	6107	SO:0001583	missense	3250				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	g.chr16:72108237T>C	BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.146T>C	16.37:g.72108237T>C	ENSP00000441828:p.Phe49Ser					HPR_ENST00000561690.1_Missense_Mutation_p.F49S|HPR_ENST00000356967.5_Missense_Mutation_p.F49S|HPR_ENST00000228226.8_Missense_Mutation_p.F86S	p.F49S	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN			3	178	+		Ovarian(137;0.125)	49			Sushi.		Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	ENST00000540303.2	37	c.146T>C	CCDS42193.1	.	.	.	.	.	.	.	.	.	.	T	6.380	0.438175	0.12104	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	T;T;T	0.48836	0.8;0.8;0.8	2.4	2.4	0.29515	Complement control module (2);	0.573140	0.16325	N	0.219367	T	0.27933	0.0688	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.19148	0.024	T	0.21143	-1.0254	10	0.87932	D	0	.	6.5813	0.22596	0.0:0.0:0.0:1.0	.	49	P00739	HPTR_HUMAN	S	49;49;86	ENSP00000349451:F49S;ENSP00000441828:F49S;ENSP00000228226:F86S	ENSP00000228226:F86S	F	+	2	0	HP	70665738	0.358000	0.24947	0.020000	0.16555	0.007000	0.05969	3.300000	0.51834	1.087000	0.41251	0.172000	0.16884	TTT		0.483	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421696.1	NM_020995		31	33	31	33	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr17:47696426A>C	ENST00000393328.2	-	6	762	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393331.3_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.F133V(4)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)Ttc>Gtc		speckle-type POZ protein							119.0	121.0	120.0					17																	47696426		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696426A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.397T>G	17.37:g.47696426A>C	ENSP00000377001:p.Phe133Val	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	867	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.397T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.550963	0.86127	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.68632	0.3022	M	0.94021	3.485	0.80722	D	1	P	0.35155	0.487	P	0.49637	0.617	T	0.74861	-0.3520	10	0.66056	D	0.02	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	V	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133V;ENSP00000377004:F133V;ENSP00000240327:F133V;ENSP00000425905:F133V;ENSP00000420908:F133V;ENSP00000426986:F133V;ENSP00000420960:F133V;ENSP00000426262:F133V;ENSP00000424119:F133V	ENSP00000240327:F133V	F	-	1	0	SPOP	45051425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		69	93	69	93	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760504	54760504	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chr19:54760504G>A	ENST00000316219.5	-	3	310	c.203C>T	c.(202-204)gCc>gTc	p.A68V	LILRB5_ENST00000450632.1_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	68	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTCTTCCGGGCCCATGGGAG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(202-204)gCc>gTc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							178.0	169.0	172.0					19																	54760504		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760504G>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.203C>T	19.37:g.54760504G>A	ENSP00000320390:p.Ala68Val					LILRB5_ENST00000316219.5_Missense_Mutation_p.A68V|LILRB5_ENST00000345866.6_Missense_Mutation_p.A68V|LILRB5_ENST00000449561.2_Missense_Mutation_p.A68V	p.A68V			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	280	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		68			Ig-like C2-type 1.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.203C>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	G	7.102	0.574339	0.13623	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.87	-0.753	0.11068	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10508	0.0257	N	0.25485	0.75	0.09310	N	1	B;B;B;B;B	0.32071	0.157;0.355;0.289;0.035;0.01	B;B;B;B;B	0.41946	0.158;0.371;0.177;0.05;0.103	T	0.40869	-0.9540	9	0.38643	T	0.18	.	2.2345	0.04004	0.3011:0.0:0.4516:0.2474	.	68;59;68;68;68	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	V	68	ENSP00000320390:A68V;ENSP00000414225:A68V;ENSP00000406478:A68V;ENSP00000263430:A68V	ENSP00000320390:A68V	A	-	2	0	LILRB5	59452316	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.451000	0.01006	0.079000	0.16929	-0.335000	0.08231	GCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			39	156	39	156	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128944944	128944944	+	Silent	SNP	C	C	T			TCGA-VP-A87B-01A-11D-A34U-08	TCGA-VP-A87B-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba2e9eb3-d530-49c4-ae78-d3069862fc71	4d2a435f-5ae8-4a20-be13-cf9208534cd2	g.chrX:128944944C>T	ENST00000357166.6	-	10	1306	c.915G>A	c.(913-915)gaG>gaA	p.E305E	ZDHHC9_ENST00000371064.3_Silent_p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	305					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						TTCCACTTTCCTCCAGTGGCA	0.517																																						ENST00000357166.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						c.(913-915)gaG>gaA		zinc finger, DHHC-type containing 9							80.0	67.0	71.0					X																	128944944		2203	4300	6503	SO:0001819	synonymous_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128944944C>T	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.915G>A	X.37:g.128944944C>T						ZDHHC9_ENST00000371064.3_Silent_p.E305E	p.E305E	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN			10	1306	-			305					B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Silent	SNP	ENST00000357166.6	37	c.915G>A	CCDS35395.1																																																																																				0.517	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032		10	4	10	4	---	---	---	---
