#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_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_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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
OSBPL2	9885	broad.mit.edu	37	20	60868864	60868864	+	Missense_Mutation	SNP	C	C	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr20:60868864C>G	ENST00000313733.3	+	14	1566	c.1364C>G	c.(1363-1365)cCc>cGc	p.P455R	OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	455					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGCAATAACCCCTACACTGGG	0.582																																						ENST00000313733.3											0			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1363-1365)cCc>cGc	oxysterol binding protein-like 2						55.0	51.0	52.0					20																	60868864		2203	4300	6503	SO:0001583	missense	9885			lipid transport		lipid binding	g.chr20:60868864C>G	AB018315	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703	ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	"""Oxysterol binding proteins"""	15761	15761	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606731	606731	"""oxysterol-binding protein-like 2"""		"""oxysterol-binding protein-like 2"""			10588946, 11861666	10588946, 11861666	Standard	Standard	NM_144498	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	uc002yck.1	Q9H1P3	Q9H1P3	OTTHUMG00000032909	OTTHUMG00000032909	ENST00000313733.3:c.1364C>G	20.37:g.60868864C>G	ENSP00000316649:p.Pro455Arg		OSBPL2_ENST00000439951.2_Missense_Mutation_p.P322A|OSBPL2_ENST00000471817.1_3'UTR|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P443R	p.P455R	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		14	1566	+	Breast(26;7.76e-09)		455		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.1364C>G	CCDS13495.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.097111|4.097111	0.76870|0.76870	.|.	.|.	ENSG00000130703|ENSG00000130703	ENST00000439951|ENST00000358053;ENST00000313733	T|T;T	0.53206|0.31510	0.63|1.49;1.49	4.04|4.04	4.04|4.04	0.47022|0.47022	4.04|4.04	4.04|4.04	0.47022|0.47022	.|.	0.110120|0.110120	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.60573|0.60573	0.2279|0.2279	M|M	0.87900|0.87900	2.915|2.915	0.36876|0.36876	D|D	0.889151|0.889151	B|D;D	0.23316|0.71674	0.083|0.997;0.998	B|D;D	0.19946|0.76575	0.027|0.972;0.988	T|T	0.75054|0.75054	-0.3453|-0.3453	10|10	0.87932|0.72032	D|D	0|0.01	-11.8721|-11.8721	15.7764|15.7764	0.78224|0.78224	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	322|443;455	E7ET92|Q9H1P3-2;Q9H1P3	.|.;OSBL2_HUMAN	A|R	322|443;455	ENSP00000397602:P322A|ENSP00000350755:P443R;ENSP00000316649:P455R	ENSP00000397602:P322A|ENSP00000316649:P455R	P|P	+|+	1|2	0|0	0|0	OSBPL2|OSBPL2	60302259|60302259	60302259|60302259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.817000|0.817000	0.46193|0.46193	5.538000|5.538000	0.67193|0.67193	1.798000|1.798000	0.52647|0.52647	0.561000|0.561000	0.74099|0.74099	CCT|CCC		0.582	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1		69.583866	-33	-33	71	71	NM_014835		24	70.191037	70.191037	37	0.393443	0	0	0	1	0	24	37	0.393443
SLC25A6	293	broad.mit.edu	37	X	1508133	1508133	+	Splice_Site	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chrX:1508133C>A	ENST00000381401.5	-	2	1313		c.e2+1		SLC25A6_ENST00000475167.1_Splice_Site	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	gccACACGTACCCTTGGCCGT	0.627																																						ENST00000381401.5											0			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.e2+1	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6						71.0	66.0	68.0					X																	1508133		2203	4296	6499	SO:0001630	splice_region_variant	293			active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1508133C>A	AY007135	AY007135	CCDS14114.1	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			2013-05-22			ENSG00000169100	ENSG00000169100	ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	10992	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300151, 403000	300151, 403000		ANT3		ANT3				Standard	Standard	NM_001636	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	uc004cpt.3	P12236	P12236	OTTHUMG00000021058	OTTHUMG00000021058	ENST00000381401.5:c.598+1G>T	X.37:g.1508133C>A			SLC25A6_ENST00000475167.1_Splice_Site		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			2	1313	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Q96C49	Splice_Site	SNP	ENST00000381401.5	37		CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	6.611	0.481076	0.12581	.	.	ENSG00000169100	ENST00000381401	.	.	.	1.7	1.7	0.24286	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7314	0.51739	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SLC25A6	1468133	1468133	1.000000	0.71417	0.058000	0.19502	0.092000	0.18411	5.896000	0.69822	0.888000	0.36160	0.402000	0.26972	.		0.627	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1		-3.816728	-13	-13	38	38	NM_001636	Intron	3	6.306405	6.306405	47	0.060000	1	0	0.004672	1	0.00494682	3	47	0.06
B3GAT3	26229	broad.mit.edu	37	11	62389419	62389419	+	Start_Codon_SNP	SNP	T	T	C	rs139759238		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr11:62389419T>C	ENST00000265471.5	-	1	228	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	B3GAT3_ENST00000534026.1_Start_Codon_SNP_p.M1V|B3GAT3_ENST00000531383.1_Start_Codon_SNP_p.M1V	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	1					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TTCAGCTTCATggccgcgccg	0.726																																						ENST00000531383.1											0			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						c.(1-3)Atg>Gtg	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)						40.0	36.0	38.0					11																	62389419		2202	4296	6498	SO:0001582	initiator_codon_variant	26229			glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389419T>C	AB009598	AB009598	CCDS8025.1	CCDS8025.1	11q12	2014-07-08	2014-07-08		2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	"""Beta-1,3-glucuronyltransferases"""	923	923	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""		"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	9506957	Standard	Standard	NM_012200	NM_012200		Approved	GlcAT-I	uc001ntw.3	uc001ntw.3	O94766	O94766	OTTHUMG00000167685	OTTHUMG00000167685	ENST00000265471.5:c.1A>G	11.37:g.62389419T>C	ENSP00000265471:p.Met1Val		B3GAT3_ENST00000534026.1_Start_Codon_SNP_p.M1V|B3GAT3_ENST00000265471.5_Start_Codon_SNP_p.M1V	p.M1V			O94766	B3GA3_HUMAN			1	207	-			1		B7ZAB3|Q96I06|Q9UEP0	Translation_Start_Site	SNP	ENST00000265471.5	37	c.1A>G	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	T	32	5.174616	0.94807	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64438	-0.06;-0.09;-0.1;0.47	4.8	4.8	0.61643	4.8	4.8	0.61643	.	0.165491	0.50627	N	0.000110	T	0.71290	0.3322	.	.	.	0.80722	D	1	B;P	0.49447	0.001;0.924	B;P	0.60682	0.002;0.878	T	0.69650	-0.5088	9	0.33940	T	0.23	.	10.6578	0.45686	0.0:0.0:0.0:1.0	.	1;1	B7ZAB3;O94766	.;B3GA3_HUMAN	V	1	ENSP00000265471:M1V;ENSP00000431359:M1V;ENSP00000432474:M1V;ENSP00000432854:M1V	ENSP00000265471:M1V	M	-	1	0	0	B3GAT3	62145995	62145995	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.264000	0.58859	2.018000	0.59344	0.459000	0.35465	ATG		0.726	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1		2.405048	-13	-13	31	31	NM_012200	Missense_Mutation	3	6.444898	6.444898	24	0.111111	0	0	0	1	0	3	24	0.111111
IQSEC3	440073	broad.mit.edu	37	12	266746	266746	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr12:266746G>A	ENST00000538872.1	+	7	2447	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N	IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	777	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACAACCCCGACACCATCTT	0.597																																						ENST00000538872.1											0			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2329-2331)Gac>Aac	IQ motif and Sec7 domain 3						314.0	214.0	248.0					12																	266746		2203	4300	6503	SO:0001583	missense	440073			regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:266746G>A	AB029033	AB029033	CCDS31725.1, CCDS53728.1	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			2014-03-18			ENSG00000120645	ENSG00000120645	ENSG00000120645	ENSG00000120645				29193	29193	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612118	612118						10470851	10470851	Standard	Standard	NM_001170738	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	uc001qhw.2	Q9UPP2	Q9UPP2	OTTHUMG00000167975	OTTHUMG00000167975	ENST00000538872.1:c.2329G>A	12.37:g.266746G>A	ENSP00000437554:p.Asp777Asn		IQSEC3_ENST00000326261.4_Missense_Mutation_p.D777N|IQSEC3_ENST00000382841.2_Missense_Mutation_p.D474N	p.D777N			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	7	2447	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		777	SEC7.	A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2329G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	33	5.215596	0.95104	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	D;D;D	0.82619	-1.63;-1.63;-1.63	4.51	4.51	0.55191	4.51	4.51	0.55191	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.044756	0.85682	D	0.000000	D	0.92922	0.7748	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94723	0.7902	10	0.87932	D	0	.	17.5649	0.87917	0.0:0.0:1.0:0.0	.	777;474	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	N	777;777;474	ENSP00000437554:D777N;ENSP00000315662:D777N;ENSP00000372292:D474N	ENSP00000315662:D777N	D	+	1	0	0	IQSEC3	137007	137007	1.000000	0.71417	0.965000	0.40720	0.908000	0.53690	9.805000	0.99149	2.233000	0.73108	0.491000	0.48974	GAC		0.597	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		106.564319	-22	-22	79	79	XM_495902		36	107.789773	107.789773	59	0.378947	0	0	0	1	0	36	59	0.378947
ZSCAN10	84891	broad.mit.edu	37	16	3140133	3140133	+	Silent	SNP	G	G	A	rs371075023		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:3140133G>A	ENST00000252463.2	-	5	1224	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	ZSCAN10_ENST00000538082.2_Silent_p.C297C|ZSCAN10_ENST00000575108.1_Silent_p.C40C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	379					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCACTCTGCGCACAGGAAGG	0.711																																						ENST00000252463.2											0			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1135-1137)tgC>tgT	zinc finger and SCAN domain containing 10	G		0,4190		0,0,2095	19.0	25.0	23.0		1137	-2.9	0.9	16		23	1,8115		0,1,4057	no	coding-synonymous	ZSCAN10	NM_032805.1		0,1,6152	AA,AG,GG		0.0123,0.0,0.0081		379/726	3140133	1,12305	2095	4058	6153	SO:0001819	synonymous_variant	84891			negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140133G>A	AA206569	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	"""-"", ""Zinc fingers, C2H2-type"""	12997	12997	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""zinc finger protein 206"""	ZNF206	"""zinc finger protein 206"""	ZNF206		9653642	9653642	Standard	Standard	NM_032805	NM_032805		Approved		uc002ctv.1	uc002ctv.1	Q96SZ4	Q96SZ4			ENST00000252463.2:c.1137C>T	16.37:g.3140133G>A			ZSCAN10_ENST00000575108.1_Silent_p.C40C|ZSCAN10_ENST00000538082.2_Silent_p.C297C	p.C379C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1224	-			379		B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1137C>T	CCDS10493.1																																																																																									0.711	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2		-8.428582	-1	-1	55	55	NM_032805		3	6.41468	6.414680	64	0.044776	0	0	0	1	0	3	64	0.044776
MYH7	4625	broad.mit.edu	37	14	23888716	23888716	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr14:23888716G>A	ENST00000355349.3	-	28	3991	c.3829C>T	c.(3829-3831)Cgg>Tgg	p.R1277W	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1277					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AACTTGGCCCGCTGGCTGGTG	0.602																																						ENST00000355349.3											0			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3829-3831)Cgg>Tgg	myosin, heavy chain 7, cardiac muscle, beta						105.0	94.0	98.0					14																	23888716		2203	4300	6503	SO:0001583	missense	4625			adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23888716G>A	M58018	M58018	CCDS9601.1	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054	ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	"""Myosins / Myosin superfamily : Class II"""	7577	7577	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160760	160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	2494889, 8483915, 15322983	Standard	Standard	XM_005267696	XM_005267696		Approved	CMD1S	uc001wjx.3	uc001wjx.3	P12883	P12883	OTTHUMG00000028755	OTTHUMG00000028755	ENST00000355349.3:c.3829C>T	14.37:g.23888716G>A	ENSP00000347507:p.Arg1277Trp			p.R1277W	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	28	3991	-	all_cancers(95;2.54e-05)		1277		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3829C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091150	0.76756	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79749	-1.3	4.99	4.03	0.46877	4.99	4.03	0.46877	Myosin tail (1);	.	.	.	.	D	0.90328	0.6974	M	0.88450	2.955	0.46167	D	0.998903	D	0.71674	0.998	D	0.69654	0.965	D	0.92093	0.5682	9	0.87932	D	0	.	15.3347	0.74241	0.0:0.0:0.8136:0.1863	.	1277	P12883	MYH7_HUMAN	W	1277;1282	ENSP00000347507:R1277W	ENSP00000347507:R1277W	R	-	1	2	2	MYH7	22958556	22958556	0.950000	0.32346	1.000000	0.80357	0.998000	0.95712	0.789000	0.26886	2.602000	0.87976	0.655000	0.94253	CGG		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		-21.100786	-30	-30	100	100	NM_000257		4	7.120066	7.120066	115	0.033613	0	0	0	1	0	4	115	0.033613
ZNF281	23528	broad.mit.edu	37	1	200377456	200377456	+	Missense_Mutation	SNP	T	T	C			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:200377456T>C	ENST00000294740.3	-	2	1502	c.1378A>G	c.(1378-1380)Aag>Gag	p.K460E	ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E|ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	460					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCACCCTCTTCTGCAGTTCA	0.378																																						ENST00000294740.3											0			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1378-1380)Aag>Gag	zinc finger protein 281						117.0	111.0	113.0					1																	200377456		2203	4300	6503	SO:0001583	missense	23528			negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200377456T>C	AF125158	AF125158	CCDS1402.1, CCDS60384.1	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			2012-08-08			ENSG00000162702	ENSG00000162702	ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	13075	13075	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10448078	10448078	Standard	Standard	NM_012482	NM_012482		Approved	ZBP-99	uc001gve.3	uc001gve.3	Q9Y2X9	Q9Y2X9	OTTHUMG00000035724	OTTHUMG00000035724	ENST00000294740.3:c.1378A>G	1.37:g.200377456T>C	ENSP00000294740:p.Lys460Glu		ZNF281_ENST00000367353.1_Missense_Mutation_p.K460E|ZNF281_ENST00000367352.3_Missense_Mutation_p.K424E	p.K460E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	1502	-					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.1378A>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.602047	0.46423	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.07567	3.19;3.19;3.18	5.7	5.7	0.88788	5.7	5.7	0.88788	.	0.271893	0.34338	N	0.004057	T	0.10637	0.0260	L	0.44542	1.39	0.34157	D	0.66818	D;D	0.58268	0.982;0.982	P;P	0.51777	0.679;0.679	T	0.03000	-1.1084	10	0.05525	T	0.97	-8.5188	10.3232	0.43777	0.0:0.0732:0.0:0.9268	.	424;460	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	460;460;424;165	ENSP00000294740:K460E;ENSP00000356322:K460E;ENSP00000356321:K424E	ENSP00000294740:K460E	K	-	1	0	0	ZNF281	198644079	198644079	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.414000	0.52693	2.153000	0.67306	0.533000	0.62120	AAG		0.378	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2		78.568303	-8	-8	50	50	NM_012482		25	78.708236	78.708236	31	0.446429	0	0	0	1	0	25	31	0.446429
ZNF747	65988	broad.mit.edu	37	16	30544430	30544430	+	Missense_Mutation	SNP	G	G	A	rs377029293		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr16:30544430G>A	ENST00000252799.3	-	2	1193	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|AC002310.12_ENST00000569752.1_RNA|AC002310.12_ENST00000457283.3_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747	176					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						CAGGGCTCCCGTCCCTTCCCT	0.602																																						ENST00000252799.3											0			kidney(1)|lung(3)|prostate(1)	5						c.(526-528)Cgg>Tgg	zinc finger protein 747	G	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	82.0	83.0	83.0		526	-1.2	0.0	16		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF747	NM_023931.2	101	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	benign	176/192	30544430	2,12992	2197	4300	6497	SO:0001583	missense	65988			regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chr16:30544430G>A	BC001361	BC001361	CCDS10682.1	CCDS10682.1	16p11.2	2013-01-08			2013-01-08			ENSG00000169955	ENSG00000169955	ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	28350	28350	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										10493829	10493829	Standard	Standard	NM_023931	NM_023931		Approved	MGC2474	uc002dyn.3	uc002dyn.3	Q9BV97	Q9BV97	OTTHUMG00000132401	OTTHUMG00000132401	ENST00000252799.3:c.526C>T	16.37:g.30544430G>A	ENSP00000252799:p.Arg176Trp		ZNF747_ENST00000569360.1_Missense_Mutation_p.T128M|ZNF747_ENST00000535210.1_Missense_Mutation_p.T128M|ZNF747_ENST00000395094.3_Missense_Mutation_p.R175W|ZNF747_ENST00000568028.1_Missense_Mutation_p.T128M	p.R176W	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN			2	1193	-			176		A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	ENST00000252799.3	37	c.526C>T	CCDS10682.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.889307|1.889307	0.33348|0.33348	2.28E-4|2.28E-4	1.16E-4|1.16E-4	ENSG00000169955|ENSG00000169955	ENST00000252799;ENST00000395094|ENST00000535210	T;T|T	0.02552|0.04862	4.3;4.25|3.54	2.73|2.73	-1.19|-1.19	0.09585|0.09585	2.73|2.73	-1.19|-1.19	0.09585|0.09585	.|.	.|.	.|.	.|.	.|.	T|T	0.03434|0.03434	0.0099|0.0099	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.47459|0.47459	-0.9116|-0.9116	9|7	0.72032|0.33141	D|T	0.01|0.24	.|.	8.0234|8.0234	0.30423|0.30423	0.1104:0.2932:0.5964:0.0|0.1104:0.2932:0.5964:0.0	.|.	175;176|.	Q9BV97-2;Q9BV97|.	.;ZN747_HUMAN|.	W|M	176;175|128	ENSP00000252799:R176W;ENSP00000378528:R175W|ENSP00000441702:T128M	ENSP00000252799:R176W|ENSP00000441702:T128M	R|T	-|-	1|2	2|0	2|0	ZNF747|ZNF747	30451931|30451931	30451931|30451931	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.084000|0.084000	0.17831|0.17831	0.445000|0.445000	0.21677|0.21677	-0.254000|-0.254000	0.09500|0.09500	-1.786000|-1.786000	0.00637|0.00637	CGG|ACG		0.602	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255532.2		-5.616991	-21	-21	46	46	NM_023931		3	6.430536	6.430536	54	0.052632	0	0	0	1	0	3	54	0.052632
LMOD3	56203	broad.mit.edu	37	3	69168367	69168367	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr3:69168367G>A	ENST00000420581.2	-	2	1318	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L|LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	380						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCTGGGACCCGGAAGCTCAAA	0.473																																						ENST00000420581.2											0			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13						c.(1138-1140)cCg>cTg	leiomodin 3 (fetal)						112.0	107.0	109.0					3																	69168367		1902	4116	6018	SO:0001583	missense	56203				cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168367G>A	AK096900	AK096900	CCDS46862.1	CCDS46862.1	3p14.1	2003-03-07			2003-03-07			ENSG00000163380	ENSG00000163380	ENSG00000163380	ENSG00000163380				6649	6649	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_198271	NM_198271		Approved		uc003dns.2	uc003dns.2	Q0VAK6	Q0VAK6	OTTHUMG00000158774	OTTHUMG00000158774	ENST00000420581.2:c.1139C>T	3.37:g.69168367G>A	ENSP00000414670:p.Pro380Leu		LMOD3_ENST00000475434.1_Missense_Mutation_p.P380L|LMOD3_ENST00000489031.1_Missense_Mutation_p.P380L	p.P380L	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1318	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	380		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	ENST00000420581.2	37	c.1139C>T	CCDS46862.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826465	0.71143	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	D;D;D	0.92699	-3.09;-3.09;-3.09	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.049022	0.85682	D	0.000000	D	0.95050	0.8397	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	D	0.94874	0.8033	10	0.72032	D	0.01	-15.7896	20.1466	0.98079	0.0:0.0:1.0:0.0	.	380	Q0VAK6	LMOD3_HUMAN	L	380	ENSP00000414670:P380L;ENSP00000417210:P380L;ENSP00000418645:P380L	ENSP00000414670:P380L	P	-	2	0	0	LMOD3	69251057	69251057	1.000000	0.71417	0.507000	0.27676	0.890000	0.51754	7.876000	0.87215	2.779000	0.95612	0.591000	0.81541	CCG		0.473	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1		7.543280	-7	-7	91	91	XM_067529		8	19.566647	19.566647	69	0.103896	0	0	0	1	0	8	69	0.103896
SMG7	9887	broad.mit.edu	37	1	183502394	183502394	+	Missense_Mutation	SNP	T	T	G			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:183502394T>G	ENST00000347615.2	+	9	1058	c.939T>G	c.(937-939)aaT>aaG	p.N313K	SMG7_ENST00000456731.2_Missense_Mutation_p.N271K|SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000367537.3_Missense_Mutation_p.N342K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	313					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACTTTAGCAATGAAACCGAGC	0.418																																						ENST00000367537.3											0			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1024-1026)aaT>aaG	SMG7 nonsense mediated mRNA decay factor						226.0	209.0	215.0					1																	183502394		2203	4300	6503	SO:0001583	missense	9887			mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183502394T>G	D87437	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698	ENSG00000116698	ENSG00000116698				16792	16792	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	14636577, 15721257	Standard	Standard	NM_173156	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	uc001gqf.3	Q92540	Q92540	OTTHUMG00000035221	OTTHUMG00000035221	ENST00000347615.2:c.939T>G	1.37:g.183502394T>G	ENSP00000340766:p.Asn313Lys		SMG7_ENST00000508461.1_Missense_Mutation_p.N271K|SMG7_ENST00000507469.1_Missense_Mutation_p.N313K|SMG7_ENST00000515829.2_Missense_Mutation_p.N313K|SMG7_ENST00000347615.2_Missense_Mutation_p.N313K|SMG7_ENST00000456731.2_Missense_Mutation_p.N271K	p.N342K			Q92540	SMG7_HUMAN			10	1221	+			313		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.1026T>G	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	T	3.627	-0.076412	0.07184	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.81	0.93	0.19454	5.81	0.93	0.19454	.	0.238105	0.42821	D	0.000644	T	0.08891	0.0220	N	0.19112	0.55	0.49687	D	0.999814	B;B;B;B;B;B	0.24317	0.101;0.002;0.001;0.002;0.007;0.005	B;B;B;B;B;B	0.22152	0.038;0.01;0.004;0.006;0.013;0.016	T	0.28396	-1.0045	10	0.08179	T	0.78	-5.7791	11.0757	0.48030	0.0:0.4007:0.0:0.5993	.	271;342;271;313;313;313	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	K	271;342;271;271;313;313;313	ENSP00000407629:N271K;ENSP00000356507:N342K;ENSP00000426915:N271K;ENSP00000388390:N271K;ENSP00000340766:N313K;ENSP00000425133:N313K;ENSP00000421358:N313K	ENSP00000340766:N313K	N	+	3	2	2	SMG7	181769017	181769017	0.845000	0.29573	0.996000	0.52242	0.963000	0.63663	-0.097000	0.11042	-0.080000	0.12685	0.533000	0.62120	AAT		0.418	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1		-40.508057	-64	-64	175	175	NM_014837		5	9.540697	9.540697	195	0.025000	0	0	0	1	0	5	195	0.025
SLC6A19	340024	ucsc.edu	37	5	1210680	1210680	+	Silent	SNP	C	C	A			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr5:1210680C>A	ENST00000304460.10	+	3	521	c.465C>A	c.(463-465)ctC>ctA	p.L155L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	155					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTGCCCGCTCAACGAGAACC	0.542																																																	0																	73.0	68.0	70.0					5																	1210680		2203	4300	6503	SO:0001819	synonymous_variant	340024							AK096054	AK096054	CCDS34130.1	CCDS34130.1	5p15	2013-07-19			2013-07-19			ENSG00000174358	ENSG00000174358	ENSG00000174358	ENSG00000174358		"""Solute carriers"""	"""Solute carriers"""	27960	27960	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Hartnup disease"""	"""Hartnup disease"""	608893	608893								Standard	Standard	NM_001003841	NM_001003841		Approved		uc003jbw.4	uc003jbw.4	Q695T7	Q695T7	OTTHUMG00000161636	OTTHUMG00000161636	ENST00000304460.10:c.465C>A	5.37:g.1210680C>A																		A8K446	Silent	SNP	ENST00000304460.10	37		CCDS34130.1																																																																																									0.542	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1			-15	-15	26	26	XM_291120		4			26							4	26	
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		107.971932	-3	-3	109	109	NM_002072		33	107.984741	107.984741	35	0.485294	0	0	0	1	0	33	35	0.485294
NCAN	1463	broad.mit.edu	37	19	19349148	19349148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:19349148G>T	ENST00000252575.6	+	11	3436	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*	NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1113	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGAAGATGCCGAGAAGGACTG	0.632																																						ENST00000252575.6											0			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3337-3339)Gag>Tag	neurocan						45.0	52.0	50.0					19																	19349148		2203	4300	6503	SO:0001587	stop_gained	1463			axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19349148G>T	AF026547	AF026547	CCDS12397.1	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	2465	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	"""neurocan proteoglycan"""	600826	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	1326557, 21353194	Standard	Standard	NM_004386	NM_004386		Approved		uc002nlz.3	uc002nlz.3	O14594	O14594			ENST00000252575.6:c.3337G>T	19.37:g.19349148G>T	ENSP00000252575:p.Glu1113*		NCAN_ENST00000538881.1_Nonsense_Mutation_p.E564*	p.E1113*	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		11	3436	+				C-type lectin.	Q9UPK6	Nonsense_Mutation	SNP	ENST00000252575.6	37	c.3337G>T	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	39	7.464936	0.98299	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	.	.	.	4.75	4.75	0.60458	4.75	4.75	0.60458	.	0.220233	0.23912	N	0.043340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.3064	0.73995	0.0:0.0:1.0:0.0	.	.	.	.	X	1127;1113;564	.	ENSP00000252575:E1113X	E	+	1	0	0	NCAN	19210148	19210148	1.000000	0.71417	0.971000	0.41717	0.938000	0.57974	9.506000	0.97992	2.464000	0.83262	0.561000	0.74099	GAG		0.632	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2		-5.015774	-2	-2	56	56	NM_004386		3	6.478313	6.478313	52	0.054545	1	0	1	1	1	3	52	0.054545
CYP2C8	1558	broad.mit.edu	37	10	96798695	96798695	+	Missense_Mutation	SNP	C	C	T	rs141209951	byFrequency	TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr10:96798695C>T	ENST00000371270.3	-	8	1344	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	417					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CTTAAAGTTGCCATTCTTATC	0.368																																						ENST00000371270.3											0			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21						c.(1249-1251)gGc>gAc	cytochrome P450, family 2, subfamily C, polypeptide 8						116.0	108.0	111.0					10																	96798695		2203	4300	6503	SO:0001583	missense	1558			exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96798695C>T	M17397	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115	ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	"""Cytochrome P450s"""	2622	2622	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601129	601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""		"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	7841444	Standard	Standard	NM_001198853	NM_001198853		Approved	CPC8	uc001kkb.3	uc001kkb.3	P10632	P10632	OTTHUMG00000018804	OTTHUMG00000018804	ENST00000371270.3:c.1250G>A	10.37:g.96798695C>T	ENSP00000360317:p.Gly417Asp		CYP2C8_ENST00000535898.1_Missense_Mutation_p.G315D	p.G417D	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	8	1344	-		Colorectal(252;0.0397)	417		A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.1250G>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501172	0.44455	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898	T;T	0.71341	-0.56;-0.56	4.09	3.19	0.36642	4.09	3.19	0.36642	.	0.070459	0.56097	U	0.000029	D	0.84266	0.5434	M	0.90082	3.085	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.71870	0.957;0.975;0.957	D	0.85721	0.1325	10	0.87932	D	0	.	9.7771	0.40626	0.0:0.8959:0.0:0.1041	.	315;385;417	B7Z1F6;B7Z8S1;P10632	.;.;CP2C8_HUMAN	D	417;384;315	ENSP00000360317:G417D;ENSP00000445062:G315D	ENSP00000360317:G417D	G	-	2	0	0	CYP2C8	96788685	96788685	0.995000	0.38212	0.555000	0.28281	0.234000	0.25298	3.404000	0.52623	1.067000	0.40740	0.591000	0.81541	GGC		0.368	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2		-5.057291	-16	-16	90	90	NM_000770		4	8.532786	8.532786	63	0.059701	0	0	0	1	0	4	63	0.059701
PSG1	5669	broad.mit.edu	37	19	43382400	43382400	+	Missense_Mutation	SNP	G	G	A	rs200054291		TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr19:43382400G>A	ENST00000436291.2	-	2	211	c.95C>T	c.(94-96)aCc>aTc	p.T32I	PSG1_ENST00000244296.2_Missense_Mutation_p.T32I|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	32					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TTGGGCAGTGGTGGGCAGGTT	0.488																																						ENST00000244296.2											0			breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(94-96)aCc>aTc	pregnancy specific beta-1-glycoprotein 1						141.0	153.0	149.0					19																	43382400		2203	4299	6502	SO:0001583	missense	0						g.chr19:43382400G>A			CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			2013-01-29			ENSG00000231924	ENSG00000231924	ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	9514	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176390	176390		PSBG1		PSBG1				Standard	Standard	NM_006905	NM_006905		Approved	PSGGA, CD66f, PBG1			P11464	P11464	OTTHUMG00000151123	OTTHUMG00000151123	ENST00000436291.2:c.95C>T	19.37:g.43382400G>A	ENSP00000413041:p.Thr32Ile		PSG1_ENST00000436291.2_Missense_Mutation_p.T32I|PSG1_ENST00000595356.1_Missense_Mutation_p.T32I|PSG1_ENST00000312439.6_Missense_Mutation_p.T32I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.T32I|PSG1_ENST00000595124.1_Missense_Mutation_p.T32I	p.T32I	NM_006905.2	NP_008836.2					2	232	-		Prostate(69;0.00682)			O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.95C>T	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	5.996	0.367739	0.11352	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.39592	1.08;5.64;1.07;1.11	1.64	-0.684	0.11331	1.64	-0.684	0.11331	.	.	.	.	.	T	0.44582	0.1300	M	0.67397	2.05	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.32507	0.329;0.052;0.047;0.024;0.09;0.106;0.373;0.026;0.071	B;B;B;B;B;B;B;B;B	0.43575	0.248;0.093;0.067;0.049;0.037;0.16;0.424;0.025;0.106	T	0.51616	-0.8683	9	0.66056	D	0.02	.	4.1776	0.10360	0.4059:0.0:0.5941:0.0	.	32;32;32;32;32;32;32;32;32	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	I	32	ENSP00000413041:T32I;ENSP00000385386:T32I;ENSP00000308970:T32I;ENSP00000244296:T32I	ENSP00000244296:T32I	T	-	2	0	0	PSG1	48074240	48074240	0.021000	0.18746	0.006000	0.13384	0.002000	0.02628	-0.520000	0.06252	-0.084000	0.12595	-1.207000	0.01640	ACC		0.488	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1		357.450827	-86	-86	183	183			110	358.985344	358.985344	74	0.597826	0	0	0	1	0	110	74	0.597826
HIAT1	64645	broad.mit.edu	37	1	100503800	100503802	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr1:100503800_100503802delGAA	ENST00000370152.3	+	1	148_150	c.12_14delGAA	c.(10-15)gggaag>ggg	p.K8del	RP4-714D9.5_ENST00000564623.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	8	Poly-Lys.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TGACCCAGGGGAAGAAGAAGAAA	0.635																																						ENST00000370152.3											0			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(10-15)gggaag>ggg	hippocampus abundant transcript 1			19,4167		5,9,2079						2.9	1.0			62	43,8053		16,11,4021	no	coding	HIAT1	NM_033055.2		21,20,6100	A1A1,A1R,RR		0.5311,0.4539,0.5048				62,12220				SO:0001651	inframe_deletion	64645			transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr1:100503800_100503802delGAA	AK096669	AK096669	CCDS763.1	CCDS763.1	1p21.3	2008-02-05			2008-02-05			ENSG00000156875	ENSG00000156875	ENSG00000156875	ENSG00000156875				23363	23363	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9299464	9299464	Standard	Standard	NM_033055	NM_033055		Approved	DKFZP564L0864	uc001dst.3	uc001dst.3	Q96MC6	Q96MC6	OTTHUMG00000010755	OTTHUMG00000010755	ENST00000370152.3:c.12_14delGAA	1.37:g.100503809_100503811delGAA	ENSP00000359171:p.Lys8del			p.K8del	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	1	148_150	+		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	8	Poly-Lys.	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	In_Frame_Del	DEL	ENST00000370152.3	37	c.12_14delGAA	CCDS763.1																																																																																									0.635	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029657.1	.	.	-6	-6	4	4	NM_033055		2			4	0.33						2	4	0.33
NCAPGP2	100421148	broad.mit.edu	37	15	30298072	30298072	+	lincRNA	DEL	T	T	-			TCGA-WC-A87T-01A-11D-A39W-08	TCGA-WC-A87T-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3b50f7-6fd3-4129-aec7-25898346b3c4	7c9d5672-df08-443c-bf6b-1a26478870ab	g.chr15:30298072delT	ENST00000561392.1	-	0	138																											AATTAATTTGTTTTTTTTCCT	0.299																																						ENST00000561392.1											0																																																0						g.chr15:30298072delT																																																		15.37:g.30298072delT											0	138	-						RNA	DEL	ENST00000561392.1	37																																																																																											0.299	RP11-143J24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000417288.1	.	.	-2	-2	8	8			2			4	0.33						2	4	0.33
