#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
CFAP57	149465	broad.mit.edu	37	1	43651007	43651007	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr1:43651007C>A	ENST00000372492.4	+	5	1273	c.949C>A	c.(949-951)Cgt>Agt	p.R317S	WDR65_ENST00000528956.1_Missense_Mutation_p.R317S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		317										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATTTTTACCGTGAGAGCAG	0.473																																						uc021omk.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(949-951)Cgt>Agt		Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.							64.0	63.0	64.0					1																	43651007		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43651007C>A																												ENST00000372492.4:c.949C>A	1.37:g.43651007C>A	ENSP00000361570:p.Arg317Ser					EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R306S|WDR65_uc001ciq.2_Missense_Mutation_p.R317S|WDR65_uc001cip.2_Missense_Mutation_p.R317S	p.R317S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN			4	1095	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	317					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.949C>A		.	.	.	.	.	.	.	.	.	.	C	17.30	3.355553	0.61293	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.06849	5.03;3.25	5.53	5.53	0.82687	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.163251	0.52532	D	0.000064	T	0.13841	0.0335	M	0.77103	2.36	0.37141	D	0.901721	B;B	0.33345	0.378;0.409	B;B	0.37304	0.074;0.246	T	0.03344	-1.1046	10	0.33940	T	0.23	.	9.6269	0.39757	0.2928:0.5878:0.1194:0.0	.	317;317	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	317	ENSP00000361570:R317S;ENSP00000435310:R317S	ENSP00000361570:R317S	R	+	1	0	WDR65	43423594	0.981000	0.34729	0.966000	0.40874	0.990000	0.78478	1.878000	0.39608	2.762000	0.94881	0.591000	0.81541	CGT		0.473	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		
OR4F6	390648	broad.mit.edu	37	15	102346736	102346736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr15:102346736G>A	ENST00000328882.4	+	1	835	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TAAATTCCTTGCCATCTTTGA	0.378																																						uc010utr.2																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(814-816)Gcc>Acc		Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.							117.0	108.0	111.0					15																	102346736		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346736G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.814G>A	15.37:g.102346736G>A	ENSP00000327525:p.Ala272Thr						p.A272T	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		0	814	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		272					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.814G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.666559	0.29604	.	.	ENSG00000184140	ENST00000328882	T	0.00152	8.66	4.9	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.119736	0.37437	N	0.002093	T	0.00210	0.0006	M	0.64630	1.985	0.09310	N	1	P	0.45531	0.86	P	0.45506	0.483	T	0.47959	-0.9076	9	.	.	.	.	10.6929	0.45882	0.0:0.0:0.652:0.348	.	272	Q8NGB9	OR4F6_HUMAN	T	272	ENSP00000327525:A272T	.	A	+	1	0	OR4F6	100164259	0.000000	0.05858	0.992000	0.48379	0.366000	0.29705	-0.003000	0.12901	1.443000	0.47586	-0.189000	0.12847	GCC		0.378	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1		
TANC2	26115	broad.mit.edu	37	17	61391934	61391934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:61391934G>A	ENST00000424789.2	+	8	1127	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	TANC2_ENST00000389520.4_Missense_Mutation_p.G375S|RP11-269G24.2_ENST00000580253.1_RNA|AC037445.1_ENST00000581421.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	375					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATTGGATTCGGCAAAACTGC	0.507																																						uc002jal.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(1123-1125)Ggc>Agc		Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.							128.0	132.0	130.0					17																	61391934		2073	4205	6278	SO:0001583	missense	26115						binding	g.chr17:61391934G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.1123G>A	17.37:g.61391934G>A	ENSP00000387593:p.Gly375Ser					TANC2_uc010wpe.2_Missense_Mutation_p.G285S	p.G375S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			7	1146	+			375					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.1123G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	34	5.380364	0.95945	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	D;D	0.90069	-2.61;-2.61	5.23	5.23	0.72850	.	.	.	.	.	D	0.95023	0.8389	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95409	0.8496	9	0.87932	D	0	.	19.1862	0.93645	0.0:0.0:1.0:0.0	.	375;375	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	S	375	ENSP00000374171:G375S;ENSP00000387593:G375S	ENSP00000374171:G375S	G	+	1	0	TANC2	58745666	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	9.779000	0.99018	2.602000	0.87976	0.650000	0.86243	GGC		0.507	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1		
EXOC7	23265	broad.mit.edu	37	17	74094004	74094004	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:74094004C>A	ENST00000335146.7	-	5	566	c.513G>T	c.(511-513)ttG>ttT	p.L171F	EXOC7_ENST00000589210.1_Missense_Mutation_p.L171F|EXOC7_ENST00000607838.1_Missense_Mutation_p.L171F|EXOC7_ENST00000411744.2_Missense_Mutation_p.L171F|EXOC7_ENST00000467929.2_Missense_Mutation_p.L130F|EXOC7_ENST00000405575.4_Missense_Mutation_p.L171F|EXOC7_ENST00000332065.5_Missense_Mutation_p.L171F			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	171					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGATCAGATCCAAGATGAGCA	0.602																																						uc002jqs.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(511-513)ttG>ttT		Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.							121.0	102.0	108.0					17																	74094004		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74094004C>A	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.513G>T	17.37:g.74094004C>A	ENSP00000334100:p.Leu171Phe					EXOC7_uc010dgv.2_Missense_Mutation_p.L118F|EXOC7_uc010wsv.2_Missense_Mutation_p.L130F|EXOC7_uc010wsw.2_Missense_Mutation_p.L171F|EXOC7_uc002jqq.3_Missense_Mutation_p.L171F|EXOC7_uc010wsx.2_Missense_Mutation_p.L171F|EXOC7_uc002jqr.3_Missense_Mutation_p.L171F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F	p.L171F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		4	608	-			171					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.513G>T	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641925	0.87859	.	.	ENSG00000182473	ENST00000332065;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744;ENST00000405068;ENST00000420116;ENST00000442951	.	.	.	4.99	4.99	0.66335	Cullin repeat-like-containing domain (1);	0.082864	0.52532	D	0.000079	T	0.64193	0.2576	L	0.28400	0.85	0.80722	D	1	P;D;P;D;D;D;D;D	0.89917	0.927;0.994;0.656;1.0;1.0;0.999;1.0;0.994	P;P;B;D;D;P;D;P	0.91635	0.578;0.84;0.157;0.999;0.964;0.894;0.994;0.84	T	0.57365	-0.7824	9	0.18710	T	0.47	-13.0176	16.636	0.85060	0.0:1.0:0.0:0.0	.	171;171;130;130;171;171;171;171	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5-4;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;.;EXOC7_HUMAN;.;.	F	171;171;171;171;130;171;171;56;118	.	ENSP00000333806:L171F	L	-	3	2	EXOC7	71605599	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.595000	0.54016	2.598000	0.87819	0.563000	0.77884	TTG		0.602	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219	
PCDHB3	56132	broad.mit.edu	37	5	140480851	140480851	+	Silent	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140480851G>A	ENST00000231130.2	+	1	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGCCGGAACTCAGCT	0.567																																						uc003lio.3																			0		p.Q205Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(616-618)ccG>ccA		Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.							57.0	55.0	56.0					5																	140480851		2203	4300	6503	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480851G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.618G>A	5.37:g.140480851G>A						BC016751_uc003lin.3_Intron	p.P206P	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	618	+			206			Cadherin 2.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.618G>A	CCDS4245.1																																																																																				0.567	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937	
DIAPH1	1729	broad.mit.edu	37	5	140960406	140960406	+	Silent	SNP	C	C	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140960406C>A	ENST00000398557.4	-	8	869	c.729G>T	c.(727-729)ctG>ctT	p.L243L	DIAPH1_ENST00000389054.3_Silent_p.L243L|DIAPH1_ENST00000253811.6_Silent_p.L243L|DIAPH1_ENST00000398566.3_Silent_p.L234L|DIAPH1_ENST00000518047.1_Silent_p.L234L|DIAPH1_ENST00000398562.2_Silent_p.L234L|DIAPH1_ENST00000389057.5_Silent_p.L234L|DIAPH1_ENST00000520569.1_Silent_p.L189L	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	243	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGACCAGCAGTAGGATTC	0.473																																						uc003llb.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(727-729)ctG>ctT		Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.							100.0	97.0	98.0					5																	140960406		1927	4139	6066	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140960406C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.729G>T	5.37:g.140960406C>A						DIAPH1_uc003llc.4_Silent_p.L234L|DIAPH1_uc021yep.1_Silent_p.L243L|DIAPH1_uc021yeq.1_Silent_p.L234L	p.L243L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	870	-			243			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.729G>T	CCDS43374.1																																																																																				0.473	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	
PRSS55	203074	broad.mit.edu	37	8	10387101	10387101	+	Missense_Mutation	SNP	C	C	T	rs550455663	byFrequency	TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:10387101C>T	ENST00000328655.3	+	2	279	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PRSS55_ENST00000522210.1_Missense_Mutation_p.P80L|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	80	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGTGAGTTTCCGTGGCAGGTG	0.512													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18093	0.0		0.0	False		,,,				2504	0.0					uc003wta.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(238-240)cCg>cTg		Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.							252.0	244.0	247.0					8																	10387101		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387101C>T	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.239C>T	8.37:g.10387101C>T	ENSP00000333003:p.Pro80Leu					AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.P80L|PRSS55_uc003wtb.3_Non-coding_Transcript	p.P80L	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			1	279	+			80			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.239C>T	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026753	0.75390	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.99105	-5.43;-5.43	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.99345	0.9770	M	0.92691	3.335	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98446	1.0589	9	0.87932	D	0	.	12.0043	0.53251	0.0:1.0:0.0:0.0	.	80	Q6UWB4	PRS55_HUMAN	L	80	ENSP00000333003:P80L;ENSP00000430459:P80L	ENSP00000333003:P80L	P	+	2	0	PRSS55	10424511	0.997000	0.39634	0.970000	0.41538	0.902000	0.53008	5.270000	0.65547	2.527000	0.85204	0.561000	0.74099	CCG		0.512	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
CYP7A1	1581	broad.mit.edu	37	8	59409488	59409488	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:59409488G>A	ENST00000301645.3	-	3	720	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	195					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTGTGTCCCGCCTTGTAAGA	0.453									Neonatal Giant Cell Hepatitis																													uc003xtm.4																			0		p.R195L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(583-585)Cgg>Tgg		Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.							135.0	129.0	131.0					8																	59409488		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409488G>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.583C>T	8.37:g.59409488G>A	ENSP00000301645:p.Arg195Trp						p.R195W	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	646	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	195					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.583C>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338781	0.41398	.	.	ENSG00000167910	ENST00000301645	T	0.68903	-0.36	5.74	4.79	0.61399	.	0.519770	0.23353	N	0.049112	T	0.52964	0.1767	N	0.08118	0	0.27079	N	0.963139	P	0.51537	0.946	P	0.46452	0.517	T	0.52697	-0.8541	10	0.44086	T	0.13	-0.7265	15.387	0.74708	0.0:0.0:0.8216:0.1784	.	195	P22680	CP7A1_HUMAN	W	195	ENSP00000301645:R195W	ENSP00000301645:R195W	R	-	1	2	CYP7A1	59572042	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	4.707000	0.61852	1.347000	0.45714	0.563000	0.77884	CGG		0.453	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780	
PSAT1	29968	broad.mit.edu	37	9	80921319	80921319	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921319G>A	ENST00000376588.3	+	5	555	c.487G>A	c.(487-489)Gac>Aac	p.D163N	PSAT1_ENST00000347159.2_Missense_Mutation_p.D163N	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	163					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTGGAGTTTGACTTTATACC	0.463																																					Colon(34;187 791 10662 18313 37609)	uc004ala.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(487-489)Gac>Aac		Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						387.0	355.0	366.0					9																	80921319		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921319G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.487G>A	9.37:g.80921319G>A	ENSP00000365773:p.Asp163Asn					PSAT1_uc004alb.3_Missense_Mutation_p.D163N	p.D163N	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			4	555	+			163					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.487G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307009	0.40795	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.65364	-0.15;-0.15	5.85	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.294696	0.41823	N	0.000808	T	0.41696	0.1170	N	0.21508	0.67	0.42717	D	0.993666	B;B	0.10296	0.003;0.002	B;B	0.12156	0.005;0.007	T	0.20840	-1.0263	10	0.10377	T	0.69	-36.3941	8.3689	0.32404	0.1364:0.1261:0.7375:0.0	.	163;163	Q9Y617-2;Q9Y617	.;SERC_HUMAN	N	163	ENSP00000317606:D163N;ENSP00000365773:D163N	ENSP00000317606:D163N	D	+	1	0	PSAT1	80111139	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.959000	0.40412	1.489000	0.48450	0.655000	0.94253	GAC		0.463	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154	
PSAT1	29968	broad.mit.edu	37	9	80921343	80921343	+	Missense_Mutation	SNP	G	G	A	rs115263053		TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921343G>A	ENST00000376588.3	+	5	579	c.511G>A	c.(511-513)Gca>Aca	p.A171T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A171T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	171					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						TGTCAAGGGAGCAGTACTGGT	0.498																																					Colon(34;187 791 10662 18313 37609)	uc004ala.3																			0		p.G170*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(511-513)Gca>Aca		Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						367.0	337.0	347.0					9																	80921343		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921343G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.511G>A	9.37:g.80921343G>A	ENSP00000365773:p.Ala171Thr					PSAT1_uc004alb.3_Missense_Mutation_p.A171T	p.A171T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			4	579	+			171					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.511G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767043	0.49574	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	D;D	0.90069	-2.61;-2.61	5.85	4.02	0.46733	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.159334	0.56097	N	0.000029	T	0.81245	0.4782	L	0.33668	1.02	0.35788	D	0.822196	B;B	0.15930	0.015;0.007	B;B	0.18871	0.023;0.023	T	0.75709	-0.3223	10	0.25106	T	0.35	-31.6171	8.7108	0.34382	0.2838:0.0:0.7162:0.0	.	171;171	Q9Y617-2;Q9Y617	.;SERC_HUMAN	T	171	ENSP00000317606:A171T;ENSP00000365773:A171T	ENSP00000317606:A171T	A	+	1	0	PSAT1	80111163	1.000000	0.71417	0.390000	0.26220	0.945000	0.59286	3.955000	0.56715	0.818000	0.34468	0.655000	0.94253	GCA		0.498	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154	
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	RNA	SNP	A	A	G			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:141070969A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517																																						uc010ncq.3																			1	Substitution - coding silent(1)	p.A196A(1)	endometrium(1)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141070969A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070969A>G														4		+									Silent	SNP	ENST00000503395.1	37																																																																																						0.517	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
