#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
GABRA4	2557	genome.wustl.edu	37	4	46973214	46973214	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr4:46973214G>A	ENST00000264318.3	-	7	1742	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	254					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCCATCTTCCGTCTGAGGTGG	0.383																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0			4											90.0	86.0	88.0					4																	46973214		2203	4300	6503	46667971	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.760C>T	4.37:g.46973214G>A	ENSP00000264318:p.Arg254Trp	84	5.62	5		NA	NA	NA	46667971	50	23.08	15	Q8IYR7	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL	p.R254W	ENST00000264318.3	37	c.760	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033137	0.75504	.	.	ENSG00000109158	ENST00000264318	D	0.96830	-4.14	5.42	3.54	0.40534	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	H	0.98133	4.155	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.99204	1.0874	10	0.87932	D	0	.	13.5006	0.61452	0.0:0.0:0.6355:0.3645	.	254	P48169	GBRA4_HUMAN	W	254	ENSP00000264318:R254W	ENSP00000264318:R254W	R	-	1	2	GABRA4	46667971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.676000	0.25247	1.503000	0.48686	0.650000	0.86243	CGG	-	HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD		0.383	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	protein_coding	OTTHUMT00000216893.1	G			46667971	-1	no_errors	NM_000809.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SNCAIP	9627	genome.wustl.edu	37	5	121786808	121786808	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr5:121786808G>A	ENST00000261368.8	+	10	2528	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E803K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.E803K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E696K|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E314K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E358K|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E390K	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	756					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGAGCAGCGAACCAGACTT	0.577																																						dbGAP											0			5											80.0	85.0	83.0					5																	121786808		2203	4300	6503	121814707	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2266G>A	5.37:g.121786808G>A	ENSP00000261368:p.Glu756Lys	45	4.26	2		NA	NA	NA	121814707	24	48.94	23	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.E756K	ENST00000261368.8	37	c.2266	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315073	0.81358	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.16073	4.2;4.74;2.43;2.37;4.74;4.67;2.37;4.47	6.06	6.06	0.98353	.	0.094066	0.64402	D	0.000001	T	0.33933	0.0880	L	0.29908	0.895	0.52099	D	0.999948	P;D;B;P;D;D;D;P	0.71674	0.944;0.973;0.097;0.954;0.967;0.975;0.998;0.923	B;B;B;B;P;B;D;B	0.73380	0.282;0.352;0.025;0.311;0.473;0.311;0.98;0.165	T	0.01951	-1.1241	10	0.72032	D	0.01	-20.528	20.6208	0.99490	0.0:0.0:1.0:0.0	.	696;384;358;696;390;390;803;756	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	K	314;696;756;803;696;390;803;358	ENSP00000441681:E314K;ENSP00000422106:E696K;ENSP00000261368:E756K;ENSP00000368848:E803K;ENSP00000368851:E696K;ENSP00000368854:E390K;ENSP00000261367:E803K;ENSP00000394392:E358K	ENSP00000261367:E803K	E	+	1	0	SNCAIP	121814707	1.000000	0.71417	0.344000	0.25628	0.859000	0.49053	9.025000	0.93694	2.882000	0.98803	0.655000	0.94253	GAA	-	NULL		0.577	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	protein_coding	OTTHUMT00000250888.1	G			121814707	+1	no_errors	NM_005460.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MINPP1	9562	genome.wustl.edu	37	10	89268199	89268199	+	Silent	SNP	C	C	T	rs140998185		TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr10:89268199C>T	ENST00000371996.4	+	2	785	c.744C>T	c.(742-744)caC>caT	p.H248H	MINPP1_ENST00000536010.1_Silent_p.H47H|MINPP1_ENST00000371994.4_Silent_p.H248H	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	248					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CTCTTTATCACGTGGAAGCCT	0.338																																						dbGAP											0			10						T	,,	0,4406		0,0,2203	46.0	48.0	47.0		744,141,744	-1.5	1.0	10	dbSNP_134	47	3,8593	812.8+/-407.1	0,3,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	MINPP1	NM_001178117.1,NM_001178118.1,NM_004897.4	,,	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	,,	248/313,47/287,248/488	89268199	3,12999	2203	4298	6501	89258179	SO:0001819	synonymous_variant	0			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.744C>T	10.37:g.89268199C>T		70	6.67	5		9	57.14	12	89258179	27	18.18	6	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	HMMPfam_Acid_phosphat_A,PatternScan_ER_TARGET,superfamily_Phosphoglycerate mutase-like	p.H248	ENST00000371996.4	37	c.744	CCDS7384.1	10																																																																																			-	HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like		0.338	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINPP1	protein_coding	OTTHUMT00000049221.1	C			89258179	+1	no_errors	NM_004897.3	genbank	human	validated	54_36p	silent	SNP	0.978	T
B4GALNT3	283358	genome.wustl.edu	37	12	662474	662474	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr12:662474C>T	ENST00000266383.5	+	14	1398	c.1385C>T	c.(1384-1386)aCc>aTc	p.T462I		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	462					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCTGCCTCCACCCTGGAGCAA	0.617																																						dbGAP											0			12											74.0	83.0	80.0					12																	662474		2203	4300	6503	532735	SO:0001583	missense	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1385C>T	12.37:g.662474C>T	ENSP00000266383:p.Thr462Ile	33	5.71	2		3	0.00	0	532735	4	60.00	6	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	HMMPfam_PA14,HMMSmart_SM00758,superfamily_Nucleotide-diphospho-sugar transferases	p.T462I	ENST00000266383.5	37	c.1385	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432183	0.25813	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32515	3.47;1.45	5.75	1.72	0.24424	.	1.042960	0.07406	N	0.891599	T	0.23249	0.0562	L	0.40543	1.245	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.08055	0.003;0.002	T	0.31833	-0.9929	10	0.18276	T	0.48	-6.5329	6.9587	0.24585	0.0:0.5602:0.2861:0.1537	.	365;462	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	I	462;365	ENSP00000266383:T462I;ENSP00000322953:T365I	ENSP00000266383:T462I	T	+	2	0	B4GALNT3	532735	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.143000	0.10296	0.318000	0.23185	0.650000	0.86243	ACC	-	NULL		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	protein_coding	OTTHUMT00000251406.2	C	NM_173593		532735	+1	no_errors	NM_173593.3	genbank	human	validated	54_36p	missense	SNP	0.003	T
