#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ACSL6	23305	broad.mit.edu	37	5	131308989	131308989	+	Silent	SNP	G	G	C	rs185984945		TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr5:131308989G>C	ENST00000379240.1	-	12	1251	c.1098C>G	c.(1096-1098)gtC>gtG	p.V366V	ACSL6_ENST00000379246.1_Silent_p.V377V|ACSL6_ENST00000296869.4_Silent_p.V391V|ACSL6_ENST00000379272.2_Silent_p.V381V|ACSL6_ENST00000357096.1_Silent_p.V291V|ACSL6_ENST00000379255.1_Silent_p.V291V|ACSL6_ENST00000379264.2_Silent_p.V391V|ACSL6_ENST00000431707.1_Silent_p.V346V|ACSL6_ENST00000544770.1_Silent_p.V275V|ACSL6_ENST00000379249.3_Silent_p.V366V|ACSL6_ENST00000379244.1_Silent_p.V366V|ACSL6_ENST00000543479.1_Silent_p.V366V			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	366					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCAGTCGTGGGACCACAGGGA	0.552																																						ENST00000379264.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35						c.(1171-1173)gtC>gtG		acyl-CoA synthetase long-chain family member 6							107.0	95.0	99.0					5																	131308989		2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131308989G>C	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1098C>G	5.37:g.131308989G>C						ACSL6_ENST00000379244.1_Silent_p.V366V|ACSL6_ENST00000296869.4_Silent_p.V391V|ACSL6_ENST00000543479.1_Silent_p.V366V|ACSL6_ENST00000379249.3_Silent_p.V366V|ACSL6_ENST00000544770.1_Silent_p.V275V|ACSL6_ENST00000379240.1_Silent_p.V366V|ACSL6_ENST00000379255.1_Silent_p.V291V|ACSL6_ENST00000357096.1_Silent_p.V291V|ACSL6_ENST00000379246.1_Silent_p.V377V|ACSL6_ENST00000431707.1_Silent_p.V346V|ACSL6_ENST00000379272.2_Silent_p.V381V	p.V391V	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1281	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	366					J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.1173C>G																																																																																					0.552	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		4	63	0	0	0	1	0	4	63				
BAGE2	85319	broad.mit.edu	37	21	11047521	11047521	+	RNA	SNP	C	C	T			TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr21:11047521C>T	ENST00000470054.1	-	0	733							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTCATAATTCGTTGAAGACA	0.348																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11047521C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11047521C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	733	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.348	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	382	0	0	0	1	0	5	382				
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411					ENST00000412962.1																			0																																																			84809							g.chr1:16945409T>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A														0	2110	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	46	0	0	0	1	0	4	46				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	5	0	0	0	1	0	4	5				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	39	0	0	0	1	0	4	39				
NUTM1	256646	broad.mit.edu	37	15	34648741	34648741	+	Silent	SNP	G	G	A			TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr15:34648741G>A	ENST00000333756.4	+	7	2603	c.2448G>A	c.(2446-2448)ttG>ttA	p.L816L	NUTM1_ENST00000537011.1_Silent_p.L844L|NUTM1_ENST00000438749.3_Silent_p.L834L	NM_175741.1	NP_786883	Q86Y26	NUTM1_HUMAN	NUT midline carcinoma, family member 1	816						cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCCCACCCTTGAGGTCCAAAG	0.522																																						ENST00000537011.1																			0											c.(2530-2532)ttG>ttA		NUT midline carcinoma, family member 1							50.0	54.0	53.0					15																	34648741		2201	4298	6499	SO:0001819	synonymous_variant	256646							g.chr15:34648741G>A	AF482429	CCDS32190.1, CCDS61584.1, CCDS61585.1	15q14	2014-01-28	2013-03-14	2013-03-14	ENSG00000184507	ENSG00000184507			29919	protein-coding gene	gene with protein product	"""nuclear protein in testis"""	608963	"""chromosome 15 open reading frame 55"""	C15orf55		12543779	Standard	NM_175741		Approved	NUT, DKFZp434O192, FAM22H	uc001zif.3	Q86Y26	OTTHUMG00000172348	ENST00000333756.4:c.2448G>A	15.37:g.34648741G>A						NUTM1_ENST00000333756.4_Silent_p.L816L|NUTM1_ENST00000438749.3_Silent_p.L834L	p.L844L							8	2914	+								B4DZ00|B7Z7Y4|E7EVE8|F5H4I6|Q86YS8|Q8N7F2|Q9NTB3	Silent	SNP	ENST00000333756.4	37	c.2532G>A	CCDS32190.1																																																																																				0.522	NUTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418026.1	NM_175741		21	32	0	0	0	1	0	21	32				
ARHGEF40	55701	broad.mit.edu	37	14	21552977	21552977	+	Silent	SNP	G	G	A			TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr14:21552977G>A	ENST00000298694.4	+	18	3982	c.3855G>A	c.(3853-3855)aaG>aaA	p.K1285K	ARHGEF40_ENST00000298693.3_Silent_p.K1285K			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1285	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GTGGCCGAAAGAAGTGCCTTC	0.527																																						ENST00000298694.4																			0				large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						c.(3853-3855)aaG>aaA		Rho guanine nucleotide exchange factor (GEF) 40							159.0	146.0	150.0					14																	21552977		2203	4300	6503	SO:0001819	synonymous_variant	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21552977G>A		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3855G>A	14.37:g.21552977G>A						ARHGEF40_ENST00000298693.3_Silent_p.K1285K	p.K1285K			Q8TER5	ARH40_HUMAN			18	3982	+			1285			PH.		A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Silent	SNP	ENST00000298694.4	37	c.3855G>A	CCDS32041.1																																																																																				0.527	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1			52	90	0	0	0	1	0	52	90				
F5	2153	broad.mit.edu	37	1	169511063	169511063	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr1:169511063T>C	ENST00000367797.3	-	13	3466	c.3265A>G	c.(3265-3267)Atg>Gtg	p.M1089V	F5_ENST00000367796.3_Missense_Mutation_p.M1094V	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1089	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCAAAATCCATAGAGGGCAAT	0.438																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3280-3282)Atg>Gtg		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						171.0	157.0	162.0					1																	169511063		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511063T>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3265A>G	1.37:g.169511063T>C	ENSP00000356771:p.Met1089Val					F5_ENST00000367797.3_Missense_Mutation_p.M1089V	p.M1094V			P12259	FA5_HUMAN			13	3481	-	all_hematologic(923;0.208)		1089			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3280A>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.668337	0.00105	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.17370	2.28;2.28	5.04	-10.1	0.00402	.	1.695630	0.02259	N	0.067430	T	0.01627	0.0052	N	0.12569	0.235	0.23282	N	0.99799	B	0.02656	0.0	B	0.01281	0.0	T	0.23404	-1.0189	9	0.02654	T	1	4.1868	12.0974	0.53763	0.0939:0.6693:0.0952:0.1416	.	1089	P12259	FA5_HUMAN	V	1089;1094	ENSP00000356771:M1089V;ENSP00000356770:M1094V	ENSP00000356770:M1094V	M	-	1	0	F5	167777687	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.124000	0.01318	-2.787000	0.00358	-1.344000	0.01245	ATG		0.438	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		9	118	0	0	0	1	0	9	118				
CNTN1	1272	broad.mit.edu	37	12	41337803	41337803	+	Missense_Mutation	SNP	C	C	T	rs556601462		TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr12:41337803C>T	ENST00000551295.2	+	14	1631	c.1514C>T	c.(1513-1515)aCg>aTg	p.T505M	CNTN1_ENST00000348761.2_Missense_Mutation_p.T494M|CNTN1_ENST00000547849.1_Missense_Mutation_p.T505M|CNTN1_ENST00000547702.1_Missense_Mutation_p.T505M|CNTN1_ENST00000360099.3_Missense_Mutation_p.T505M|CNTN1_ENST00000347616.1_Missense_Mutation_p.T505M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	505	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T505M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGATCCTACGCGAATTATA	0.333																																						ENST00000551295.2																			1	Substitution - Missense(1)	p.T505M(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1513-1515)aCg>aTg		contactin 1							84.0	75.0	78.0					12																	41337803		2203	4299	6502	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41337803C>T	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1514C>T	12.37:g.41337803C>T	ENSP00000447006:p.Thr505Met					CNTN1_ENST00000547849.1_Missense_Mutation_p.T505M|CNTN1_ENST00000348761.2_Missense_Mutation_p.T494M|CNTN1_ENST00000347616.1_Missense_Mutation_p.T505M|CNTN1_ENST00000360099.3_Missense_Mutation_p.T505M|CNTN1_ENST00000547702.1_Missense_Mutation_p.T505M	p.T505M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			14	1631	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	505			Ig-like C2-type 6.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1514C>T	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826087	0.50739	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	4.72	4.72	0.59763	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.89478	3.035	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.977;0.998;0.999	T	0.70741	-0.4789	10	0.62326	D	0.03	.	18.2484	0.89995	0.0:1.0:0.0:0.0	.	505;494;505	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	M	505;505;505;505;505;494	ENSP00000448004:T505M;ENSP00000447006:T505M;ENSP00000448653:T505M;ENSP00000325660:T505M;ENSP00000353213:T505M;ENSP00000261160:T494M	ENSP00000325660:T505M	T	+	2	0	CNTN1	39624070	1.000000	0.71417	0.982000	0.44146	0.049000	0.14656	7.114000	0.77103	2.625000	0.88918	0.511000	0.50034	ACG		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	87	0	0	0	1	0	4	87				
PPP1R10	5514	broad.mit.edu	37	6	30570123	30570123	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr6:30570123C>T	ENST00000376511.2	-	19	2855	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	768	Gly-rich.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TTCGTGGGGACGATGTCCACT	0.667																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(2302-2304)cGt>cAt		protein phosphatase 1, regulatory subunit 10							152.0	161.0	158.0					6																	30570123		1510	2709	4219	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30570123C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.2303G>A	6.37:g.30570123C>T	ENSP00000365694:p.Arg768His						p.R768H	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			19	2855	-			768			Gly-rich.		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.2303G>A	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	9.680	1.149132	0.21288	.	.	ENSG00000204569	ENST00000376511	T	0.57273	0.41	3.17	3.17	0.36434	.	0.254551	0.26616	N	0.023383	T	0.11281	0.0275	N	0.08118	0	0.31722	N	0.638175	P	0.49358	0.923	B	0.32090	0.14	T	0.06899	-1.0801	10	0.33141	T	0.24	-5.5188	9.7415	0.40420	0.2074:0.7925:0.0:0.0	.	768	Q96QC0	PP1RA_HUMAN	H	768	ENSP00000365694:R768H	ENSP00000365694:R768H	R	-	2	0	PPP1R10	30678102	0.132000	0.22450	0.920000	0.36463	0.599000	0.36880	1.927000	0.40094	2.100000	0.63781	0.485000	0.47835	CGT		0.667	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		63	79	0	0	0	1	0	63	79				
TRGV3	6976	broad.mit.edu	37	7	38398424	38398424	+	RNA	SNP	C	C	A			TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr7:38398424C>A	ENST00000390346.2	-	0	226							P03979	TVC_HUMAN	T cell receptor gamma variable 3						immune response (GO:0006955)	plasma membrane (GO:0005886)	MHC protein binding (GO:0042287)|peptide antigen binding (GO:0042605)										TTCTGACTGGCTGCAATGGGA	0.438																																						ENST00000390346.2																			0																				86.0	81.0	83.0					7																	38398424		1886	4117	6003			6976							g.chr7:38398424C>A	M13430		7p14	2012-02-07			ENSG00000211699	ENSG00000211699		"""T cell receptors / TRG locus"""	12288	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V3"""			TCRGV3		2938743, 2969332	Standard	NG_001336		Approved	V1S3	uc003tgr.2	P03979	OTTHUMG00000155102		7.37:g.38398424C>A														0	226	-									RNA	SNP	ENST00000390346.2	37																																																																																						0.438	TRGV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338416.3	NG_001336		4	67	1	0	0.00909568	1	0.00909568	4	67				
FEZF2	55079	broad.mit.edu	37	3	62358227	62358229	+	In_Frame_Del	DEL	CCT	CCT	-	rs201688981		TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr3:62358227_62358229delCCT	ENST00000283268.3	-	2	609_611	c.315_317delAGG	c.(313-318)ggaggc>ggc	p.105_106GG>G	FEZF2_ENST00000486811.1_In_Frame_Del_p.105_106GG>G|FEZF2_ENST00000475839.1_In_Frame_Del_p.105_106GG>G	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	105	Gly-rich.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		gccgccgccgcctccgccgccgc	0.709																																					NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(313-318)ggc>gg		FEZ family zinc finger 2																																				SO:0001651	inframe_deletion	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62358227_62358229delCCT	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.315_317delAGG	3.37:g.62358227_62358229delCCT	ENSP00000283268:p.Gly117del					FEZF2_ENST00000475839.1_In_Frame_Del_p.GG115del|FEZF2_ENST00000486811.1_In_Frame_Del_p.GG115del	p.GG115del	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	2	609_611	-		Lung SC(41;0.0262)	115			Gly-rich.		A8K349|Q9BZ91|Q9NWB9	In_Frame_Del	DEL	ENST00000283268.3	37	c.315_317delAGG	CCDS2897.1																																																																																				0.709	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		5	2						5	2	---	---	---	---
GIPC1	10755	broad.mit.edu	37	19	14591196	14591212	+	Frame_Shift_Del	DEL	GTAGTGCCGGCAGCCCA	GTAGTGCCGGCAGCCCA	-	rs368754619|rs148903990	byFrequency	TCGA-QR-A6GZ-05A-11D-A35D-08	TCGA-QR-A6GZ-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1be348d1-bb8d-4bcb-9df7-f044e55c42b8	dc831897-5afc-4187-860f-4ac7b570871d	g.chr19:14591196_14591212delGTAGTGCCGGCAGCCCA	ENST00000393033.4	-	6	829_845	c.560_576delTGGGCTGCCGGCACTAC	c.(559-576)ctgggctgccggcactacfs	p.LGCRHY187fs	GIPC1_ENST00000345425.2_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000393029.3_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.LGCRHY90fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	187	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGGCCACCTCGTAGTGCCGGCAGCCCAGCAGGCTCTG	0.677											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(33;78 923 2910 41023 52850)	ENST00000393033.4																			0				endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						c.(559-576)cfs		GIPC PDZ domain containing family, member 1																																				SO:0001589	frameshift_variant	10755				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	g.chr19:14591196_14591212delGTAGTGCCGGCAGCCCA	AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.560_576delTGGGCTGCCGGCACTAC	19.37:g.14591196_14591212delGTAGTGCCGGCAGCCCA	ENSP00000376753:p.Leu187fs		OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	696	GIPC1_ENST00000393029.3_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000591349.1_Frame_Shift_Del_p.LGCRHY90fs|GIPC1_ENST00000586027.1_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000345425.2_Frame_Shift_Del_p.LGCRHY187fs|GIPC1_ENST00000393028.1_Frame_Shift_Del_p.LGCRHY90fs	p.LGCRHY187fs	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN			6	829_845	-			187			PDZ.		A8K4I3|A8MZG3|Q9BTC9	Frame_Shift_Del	DEL	ENST00000393033.4	37	c.560_576delTGGGCTGCCGGCACTAC	CCDS12310.1																																																																																				0.677	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460239.2			14	52						14	52	---	---	---	---
