#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
NOL6	65083	broad.mit.edu	37	9	33468782	33468782	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr9:33468782T>C	ENST00000379471.2	-	8	1202	c.1115A>G	c.(1114-1116)tAc>tGc	p.Y372C	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.Y312C			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	372					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGGACCTGGTAGCCACTCAT	0.547																																						uc003zsz.3																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1114-1116)tAc>tGc		Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.							180.0	185.0	183.0					9																	33468782		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468782T>C	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1115A>G	9.37:g.33468782T>C	ENSP00000368784:p.Tyr372Cys		Somatic				NOL6_uc003zta.3_Missense_Mutation_p.Y372C|NOL6_uc010mjv.3_Missense_Mutation_p.Y372C|NOL6_uc011lob.2_Missense_Mutation_p.Y312C|NOL6_uc003ztb.1_Missense_Mutation_p.Y372C	p.Y372C	NM_022917	NP_075068	WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	7	1216	-			372					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1115A>G		.	.	.	.	.	.	.	.	.	.	T	15.86	2.957245	0.53400	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.08	5.08	0.68730	.	0.127211	0.53938	D	0.000043	T	0.71600	0.3359	M	0.73430	2.235	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.994;0.992;0.991;0.997	T	0.74368	-0.3688	10	0.52906	T	0.07	.	14.5069	0.67758	0.0:0.0:0.0:1.0	.	312;372;372;372;372	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	C	372;372;372;372;312	ENSP00000313978:Y372C;ENSP00000297990:Y372C;ENSP00000368784:Y372C;ENSP00000395915:Y312C	ENSP00000297990:Y372C	Y	-	2	0	NOL6	33458782	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.560000	0.67332	1.925000	0.55765	0.459000	0.35465	TAC		0.547	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		4	314	0	0	0	1	0	4	314				
MOAP1	64112	broad.mit.edu	37	14	93650551	93650551	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:93650551T>C	ENST00000556883.1	-	2	521	c.37A>G	c.(37-39)Atg>Gtg	p.M13V	TMEM251_ENST00000415050.2_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|TMEM251_ENST00000283534.4_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.M13V			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	13					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ttcatgtccatccccctgcac	0.507																																						uc001ybj.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13						c.(37-39)Atg>Gtg		Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.							106.0	118.0	114.0					14																	93650551		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650551T>C	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.37A>G	14.37:g.93650551T>C	ENSP00000451594:p.Met13Val		Somatic				MOAP1_uc021saw.1_Missense_Mutation_p.M13V|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	p.M13V	NM_022151	NP_071434	WXS	Illumina GAIIx	Phase_I	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	2	407	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	13					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.37A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.523326	0.27299	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.14516	2.5;2.5	3.46	2.26	0.28386	.	.	.	.	.	T	0.29256	0.0728	M	0.67397	2.05	0.22226	N	0.999271	D	0.60160	0.987	D	0.66602	0.945	T	0.04693	-1.0933	9	0.66056	D	0.02	-12.5177	6.7674	0.23575	0.0:0.0:0.2411:0.7589	.	13	Q96BY2	MOAP1_HUMAN	V	13	ENSP00000298894:M13V;ENSP00000451594:M13V	ENSP00000298894:M13V	M	-	1	0	MOAP1	92720304	0.956000	0.32656	0.579000	0.28588	0.034000	0.12701	2.478000	0.45189	0.685000	0.31468	0.529000	0.55759	ATG		0.507	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			3	149	0	0	0	1	0	3	149				
SESTD1	91404	broad.mit.edu	37	2	179997121	179997121	+	Silent	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:179997121T>C	ENST00000428443.3	-	10	1198	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	294							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTTAGTTGTTCTGATCCAG	0.443																																						uc002uni.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(880-882)gaA>gaG		Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.							125.0	133.0	130.0					2																	179997121		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179997121T>C	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.882A>G	2.37:g.179997121T>C			Somatic					p.E294E	NM_178123	NP_835224	WXS	Illumina GAIIx	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1032	-			294					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.882A>G	CCDS33338.1																																																																																				0.443	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		4	142	0	0	0	1	0	4	142				
MYH1	4619	broad.mit.edu	37	17	10406153	10406153	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:10406153C>T	ENST00000226207.5	-	24	3107	c.3013G>A	c.(3013-3015)Gag>Aag	p.E1005K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1005					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTGGGCCTCCTGGAGAGCC	0.498																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(3013-3015)Gag>Aag		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							129.0	127.0	128.0					17																	10406153		2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:10406153C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.3013G>A	17.37:g.10406153C>T	ENSP00000226207:p.Glu1005Lys		Somatic				AK097500_uc002gml.1_Intron	p.E1005K	NM_005963	NP_005954	WXS	Illumina GAIIx	Phase_I	P12882	MYH1_HUMAN			23	3107	-			1005					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.3013G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.350168	0.95830	.	.	ENSG00000109061	ENST00000226207	D	0.91792	-2.91	5.24	5.24	0.73138	.	0.000000	0.43579	U	0.000542	D	0.97167	0.9074	H	0.95539	3.685	0.58432	D	0.999994	D	0.64830	0.994	P	0.62435	0.902	D	0.98145	1.0438	10	0.87932	D	0	.	19.1915	0.93669	0.0:1.0:0.0:0.0	.	1005	P12882	MYH1_HUMAN	K	1005	ENSP00000226207:E1005K	ENSP00000226207:E1005K	E	-	1	0	MYH1	10346878	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.724000	0.84798	2.620000	0.88729	0.557000	0.71058	GAG		0.498	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		11	127	0	0	0	1	0	11	127				
FAM83B	222584	broad.mit.edu	37	6	54805631	54805631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:54805631C>A	ENST00000306858.7	+	5	1978	c.1862C>A	c.(1861-1863)tCa>tAa	p.S621*	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	621										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAAACCACTCAGTAGCCTTA	0.398																																						uc003pck.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1861-1863)tCa>tAa		Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.							50.0	48.0	49.0					6																	54805631		2197	4284	6481	SO:0001587	stop_gained	222584							g.chr6:54805631C>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1862C>A	6.37:g.54805631C>A	ENSP00000304078:p.Ser621*		Somatic					p.S621*	NM_001010872	NP_001010872	WXS	Illumina GAIIx	Phase_I	Q5T0W9	FA83B_HUMAN			4	1978	+	Lung NSC(77;0.0178)|Renal(3;0.122)		621					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.1862C>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304362	0.40795	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.55	3.67	0.42095	.	0.682891	0.13723	N	0.367229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5309	5.5151	0.16902	0.1912:0.6231:0.1059:0.0799	.	.	.	.	X	621	.	ENSP00000304078:S621X	S	+	2	0	FAM83B	54913590	0.000000	0.05858	0.009000	0.14445	0.020000	0.10135	0.379000	0.20585	1.486000	0.48398	0.655000	0.94253	TCA		0.398	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		3	54	0	0	0	1	0	3	54				
EFS	10278	broad.mit.edu	37	14	23828540	23828540	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:23828540A>G	ENST00000216733.3	-	4	1754	c.1147T>C	c.(1147-1149)Tat>Cat	p.Y383H	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.Y290H|EFS_ENST00000429593.2_Missense_Mutation_p.Y214H	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	383					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		AGGTGGACATAGTCATACTCC	0.637																																						uc001wjo.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1147-1149)Tat>Cat		Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.							93.0	92.0	92.0					14																	23828540		2203	4300	6503	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828540A>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1147T>C	14.37:g.23828540A>G	ENSP00000216733:p.Tyr383His		Somatic				EFS_uc001wjp.3_Missense_Mutation_p.Y290H|EFS_uc010tnm.2_Missense_Mutation_p.Y214H	p.Y383H	NM_005864	NP_005855	WXS	Illumina GAIIx	Phase_I	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	3	1755	-	all_cancers(95;7.12e-06)		383					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1147T>C	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892330	0.72524	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.37058	1.22;1.22;1.22	4.69	4.69	0.59074	CAS family, DUF3513 (1);	0.292378	0.34067	N	0.004290	T	0.63094	0.2482	M	0.84683	2.71	0.45354	D	0.998347	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.69752	-0.5060	10	0.72032	D	0.01	-9.9709	13.2715	0.60164	1.0:0.0:0.0:0.0	.	214;290;383	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	H	383;290;214	ENSP00000216733:Y383H;ENSP00000340607:Y290H;ENSP00000416684:Y214H	ENSP00000216733:Y383H	Y	-	1	0	EFS	22898380	1.000000	0.71417	0.990000	0.47175	0.918000	0.54935	4.557000	0.60782	1.975000	0.57531	0.533000	0.62120	TAT		0.637	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			3	184	0	0	0	1	0	3	184				
AMER3	205147	broad.mit.edu	37	2	131521451	131521451	+	Silent	SNP	G	G	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:131521451G>A	ENST00000423981.1	+	2	1916	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	AMER3_ENST00000321420.4_Silent_p.E602E	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	602					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CCTCTCGAGAGGAAGAGACAC	0.592																																						uc002trw.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1804-1806)gaG>gaA		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							70.0	75.0	73.0					2																	131521451		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131521451G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1806G>A	2.37:g.131521451G>A			Somatic				FAM123C_uc010fmv.2_Silent_p.E602E|FAM123C_uc010fms.1_Silent_p.E602E|FAM123C_uc010fmt.1_Silent_p.E602E|FAM123C_uc010fmu.1_Silent_p.E602E|FAM123C_uc021voy.1_Silent_p.E602E	p.E602E	NM_152698	NP_689911	WXS	Illumina GAIIx	Phase_I	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	1	1996	+	Colorectal(110;0.1)		602					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1806G>A	CCDS2164.1																																																																																				0.592	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		3	86	0	0	0	1	0	3	86				
WIPF1	7456	broad.mit.edu	37	2	175437077	175437077	+	Silent	SNP	C	C	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:175437077C>T	ENST00000392547.2	-	5	555	c.456G>A	c.(454-456)gtG>gtA	p.V152V	WIPF1_ENST00000392546.2_Silent_p.V152V|WIPF1_ENST00000272746.5_Silent_p.V152V|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.V152V|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000359761.3_Silent_p.V152V|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409415.3_Silent_p.V152V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	152					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						CTGGAGAAGGCACAGGAAACC	0.602																																						uc010fqt.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(454-456)gtG>gtA		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							43.0	50.0	48.0					2																	175437077		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175437077C>T	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.456G>A	2.37:g.175437077C>T			Somatic				BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.V152V|WIPF1_uc002ujc.1_Silent_p.V152V|WIPF1_uc002uiz.3_Silent_p.V152V|WIPF1_uc002ujb.2_Silent_p.V152V|WIPF1_uc010zep.1_Silent_p.V152V	p.V152V	NM_003387	NP_003378	WXS	Illumina GAIIx	Phase_I	O43516	WIPF1_HUMAN			4	620	-			152					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.456G>A	CCDS2260.1																																																																																				0.602	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		6	42	0	0	0	1	0	6	42				
PIP5K1A	8394	broad.mit.edu	37	1	151196719	151196719	+	Splice_Site	SNP	A	A	G			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151196719A>G	ENST00000368888.4	+	2	507		c.e2-1		PIP5K1A_ENST00000368890.4_Intron|PIP5K1A_ENST00000409426.1_Splice_Site|PIP5K1A_ENST00000441902.2_Splice_Site	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha						actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCCCCCCTAGCAGCATCTG	0.383																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.3																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.e2-2		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.							217.0	206.0	210.0					1																	151196719		2203	4300	6503	SO:0001630	splice_region_variant	8394				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151196719A>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.86-1A>G	1.37:g.151196719A>G			Somatic				PIP5K1A_uc021oyo.1_Splice_Site_p.A29_splice|PIP5K1A_uc001exi.3_Intron|PIP5K1A_uc010pcu.2_Splice_Site_p.A29_splice|PIP5K1A_uc001exk.3_Intron	p.A29_splice	NM_001135638	NP_001129110	WXS	Illumina GAIIx	Phase_I	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	538	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		29					A8K4Q0|B4DIN0|Q99754|Q99756	Splice_Site	SNP	ENST00000368888.4	37	c.86_splice	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	A	3.738	-0.054232	0.07362	.	.	ENSG00000143398	ENST00000409426;ENST00000441902;ENST00000368888	.	.	.	4.36	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.36825	D	0.886572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5007	0.22168	0.8927:0.0:0.1073:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIP5K1A	149463343	0.556000	0.26538	0.475000	0.27278	0.083000	0.17756	0.688000	0.25422	1.018000	0.39521	0.409000	0.27619	.		0.383	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557	Intron	3	126	0	0	0	1	0	3	126				
PDZRN4	29951	broad.mit.edu	37	12	41967097	41967097	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:41967097G>T	ENST00000402685.2	+	10	2524	c.2516G>T	c.(2515-2517)aGa>aTa	p.R839I	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R581I|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R579I	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	839							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCCTCATATAGATATGCAAAC	0.473																																						uc010skn.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(2515-2517)aGa>aTa		Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.							142.0	149.0	146.0					12																	41967097		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967097G>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2516G>T	12.37:g.41967097G>T	ENSP00000384197:p.Arg839Ile		Somatic				PDZRN4_uc001rmq.4_Missense_Mutation_p.R581I|PDZRN4_uc009zjz.3_Missense_Mutation_p.R579I|PDZRN4_uc001rmr.3_Missense_Mutation_p.R466I	p.R839I	NM_001164595	NP_001158067	WXS	Illumina GAIIx	Phase_I	Q6ZMN7	PZRN4_HUMAN			9	2524	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	839					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2516G>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644240	0.47258	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.45276	0.9;0.9;0.9	5.07	5.07	0.68467	.	0.065397	0.56097	D	0.000027	T	0.58221	0.2107	M	0.72479	2.2	0.80722	D	1	P;P;P	0.51933	0.86;0.896;0.949	B;P;P	0.58928	0.302;0.802;0.848	T	0.59695	-0.7406	10	0.59425	D	0.04	-30.7472	12.7124	0.57098	0.0768:0.0:0.9232:0.0	.	839;579;581	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	I	839;581;579	ENSP00000384197:R839I;ENSP00000439990:R581I;ENSP00000298919:R579I	ENSP00000298919:R579I	R	+	2	0	PDZRN4	40253364	1.000000	0.71417	0.148000	0.22405	0.356000	0.29392	4.616000	0.61197	2.741000	0.93983	0.650000	0.86243	AGA		0.473	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		14	171	0	0	0	1	0	14	171				
ARHGEF2	9181	broad.mit.edu	37	1	155932417	155932417	+	Silent	SNP	G	G	A	rs370489054		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:155932417G>A	ENST00000361247.4	-	9	1167	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ARHGEF2_ENST00000313695.7_Silent_p.Y328Y|ARHGEF2_ENST00000313667.4_Silent_p.Y355Y|ARHGEF2_ENST00000462460.2_Silent_p.Y401Y|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.Y328Y|ARHGEF2_ENST00000368315.4_Silent_p.Y357Y	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557																																					Melanoma(178;35 2768 6610 28839)	uc001fmu.2																			0				breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40						c.(1198-1200)taC>taT		Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.		G	,,	1,4405	2.1+/-5.4	0,1,2202	87.0	88.0	88.0		1068,1065,984	-7.2	0.8	1		88	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	356/987,355/986,328/959	155932417	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	9181				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	g.chr1:155932417G>A	AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	682	protein-coding gene	gene with protein product		607560	"""rho/rac guanine nucleotide exchange factor (GEF) 2"""			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1068C>T	1.37:g.155932417G>A			Somatic				ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	p.Y400Y	NM_004723	NP_004714	WXS	Illumina GAIIx	Phase_I	Q92974	ARHG2_HUMAN			12	1455	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		356			DH.		D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	ENST00000361247.4	37	c.1200C>T	CCDS53376.1																																																																																				0.557	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046204.2	NM_004723		3	68	0	0	0	1	0	3	68				
ZNF563	147837	broad.mit.edu	37	19	12430333	12430333	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr19:12430333T>C	ENST00000293725.5	-	4	711	c.506A>G	c.(505-507)tAt>tGt	p.Y169C	ZNF563_ENST00000595977.1_Missense_Mutation_p.Y169C	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTACACTCATAGCGTTTCTT	0.433																																					GBM(39;623 795 5132 29510 31476)	uc002mtp.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(505-507)tAt>tGt		Homo sapiens zinc finger protein 563 (ZNF563), mRNA.							249.0	221.0	231.0					19																	12430333		2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430333T>C	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.506A>G	19.37:g.12430333T>C	ENSP00000293725:p.Tyr169Cys		Somatic				ZNF563_uc002mtq.2_Missense_Mutation_p.Y169C	p.Y169C	NM_145276	NP_660319	WXS	Illumina GAIIx	Phase_I	Q8TA94	ZN563_HUMAN			3	744	-			169					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.506A>G	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.407605	0.25378	.	.	ENSG00000188868	ENST00000293725;ENST00000318168	T	0.69306	-0.39	0.814	-0.43	0.12299	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76335	0.3973	M	0.80982	2.52	0.09310	N	1	B;D	0.69078	0.264;0.997	B;D	0.65010	0.126;0.931	T	0.63932	-0.6525	9	0.72032	D	0.01	.	5.2485	0.15510	0.6853:0.0:0.0:0.3146	.	169;169	Q8TA94-2;Q8TA94	.;ZN563_HUMAN	C	169	ENSP00000293725:Y169C	ENSP00000293725:Y169C	Y	-	2	0	ZNF563	12291333	0.000000	0.05858	0.004000	0.12327	0.323000	0.28346	-2.276000	0.01161	-0.251000	0.09542	-0.991000	0.02546	TAT		0.433	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		43	82	0	0	0	1	0	43	82				
VNN2	8875	broad.mit.edu	37	6	133065566	133065566	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:133065566A>G	ENST00000326499.6	-	7	1560	c.1436T>C	c.(1435-1437)cTc>cCc	p.L479P	VNN2_ENST00000525289.1_Missense_Mutation_p.L258P|VNN2_ENST00000525270.1_Missense_Mutation_p.L426P	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	479					cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTCCCAAAGAGTGACACTGT	0.403																																						uc003qdt.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1435-1437)cTc>cCc		Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.							144.0	129.0	134.0					6																	133065566		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133065566A>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.1436T>C	6.37:g.133065566A>G	ENSP00000322276:p.Leu479Pro		Somatic				VNN2_uc003qds.3_Missense_Mutation_p.L188P|VNN2_uc010kgb.3_Missense_Mutation_p.L258P|VNN2_uc003qdv.3_Missense_Mutation_p.L426P	p.L479P	NM_004665	NP_004656	WXS	Illumina GAIIx	Phase_I	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	6	1447	-			479					A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.1436T>C	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704908	0.30232	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289	D;D;D	0.89875	-2.58;-2.58;-2.58	4.53	4.53	0.55603	.	0.000000	0.53938	D	0.000054	D	0.92113	0.7500	M	0.80508	2.5	0.27303	N	0.957511	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87058	0.2151	10	0.87932	D	0	-7.9479	12.0751	0.53638	1.0:0.0:0.0:0.0	.	258;479	O95498-2;O95498	.;VNN2_HUMAN	P	479;426;258	ENSP00000322276:L479P;ENSP00000436822:L426P;ENSP00000436935:L258P	ENSP00000322276:L479P	L	-	2	0	VNN2	133107259	0.949000	0.32298	0.178000	0.23040	0.010000	0.07245	5.274000	0.65569	1.784000	0.52394	0.533000	0.62120	CTC		0.403	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			50	51	0	0	0	1	0	50	51				
TAS2R20	259295	broad.mit.edu	37	12	11149659	11149659	+	Silent	SNP	T	T	C			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr12:11149659T>C	ENST00000538986.1	-	1	815	c.816A>G	c.(814-816)ccA>ccG	p.P272P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	272					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						AGTGGAATGATGGATATATGA	0.393																																						uc001qzm.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(814-816)ccA>ccG		Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.							113.0	113.0	113.0					12																	11149659		2203	4300	6503	SO:0001819	synonymous_variant	259295				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11149659T>C	AX097732, AF494236	CCDS8639.1	12p13.2	2012-08-22			ENSG00000255837	ENSG00000255837		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19109	protein-coding gene	gene with protein product		613962	"""taste receptor, type 2, member 49"""	TAS2R49			Standard	NM_176889		Approved	T2R20, T2R56	uc001qzm.2	P59543	OTTHUMG00000162695	ENST00000538986.1:c.816A>G	12.37:g.11149659T>C			Somatic				PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	p.P272P	NM_176889	NP_795370	WXS	Illumina GAIIx	Phase_I	P59543	T2R20_HUMAN			0	816	-			272					P59549|Q2HIZ4|Q496D8|Q645X9	Silent	SNP	ENST00000538986.1	37	c.816A>G	CCDS8639.1																																																																																				0.393	TAS2R20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370130.2	NM_176889		7	93	0	0	0	1	0	7	93				
POGZ	23126	broad.mit.edu	37	1	151377730	151377730	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:151377730T>A	ENST00000271715.2	-	19	4095	c.3781A>T	c.(3781-3783)Att>Ttt	p.I1261F	POGZ_ENST00000531094.1_Missense_Mutation_p.I1199F|POGZ_ENST00000361398.3_Missense_Mutation_p.I1208F|POGZ_ENST00000392723.1_Missense_Mutation_p.I1208F|POGZ_ENST00000491586.1_Missense_Mutation_p.I1217F|POGZ_ENST00000368863.2_Missense_Mutation_p.I1166F|POGZ_ENST00000409503.1_Missense_Mutation_p.I1252F|POGZ_ENST00000540984.1_Missense_Mutation_p.I623F	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1261	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AATGGCTGAATTTTGGAGCTA	0.468																																						uc001eyd.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3781-3783)Att>Ttt		Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.							138.0	139.0	139.0					1																	151377730		2203	4300	6503	SO:0001583	missense	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377730T>A	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3781A>T	1.37:g.151377730T>A	ENSP00000271715:p.Ile1261Phe		Somatic				POGZ_uc021oyq.1_Missense_Mutation_p.I1208F|POGZ_uc010pdb.2_Missense_Mutation_p.I1252F|POGZ_uc010pdc.2_Missense_Mutation_p.I1199F|POGZ_uc009wmv.2_Missense_Mutation_p.I1166F|POGZ_uc001eyf.2_Missense_Mutation_p.I1217F|POGZ_uc010pdd.2_Missense_Mutation_p.I752F	p.I1261F	NM_015100	NP_055915	WXS	Illumina GAIIx	Phase_I	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		18	4096	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1261			DDE.		B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	ENST00000271715.2	37	c.3781A>T	CCDS997.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.335561	0.41398	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.85	4.73	0.59995	.	0.000000	0.64402	D	0.000001	T	0.32941	0.0846	N	0.14661	0.345	0.40975	D	0.98473	D;D;D;D;D;D	0.58970	0.968;0.961;0.984;0.984;0.96;0.961	D;P;D;D;D;P	0.70487	0.969;0.757;0.964;0.964;0.948;0.757	T	0.33137	-0.9880	10	0.54805	T	0.06	-23.1408	10.3222	0.43773	0.0:0.0773:0.0:0.9227	.	1199;1252;1166;1217;1208;1261	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	F	1208;1261;1208;1166;1252;1199;623;1217	ENSP00000376484:I1208F;ENSP00000271715:I1261F;ENSP00000354467:I1208F;ENSP00000357856:I1166F;ENSP00000386836:I1252F;ENSP00000431259:I1199F;ENSP00000443547:I623F;ENSP00000418408:I1217F	ENSP00000271715:I1261F	I	-	1	0	POGZ	149644354	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	3.107000	0.50329	2.235000	0.73313	0.402000	0.26972	ATT		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		8	192	0	0	0	1	0	8	192				
TMEM132A	54972	broad.mit.edu	37	11	60695172	60695172	+	Silent	SNP	C	C	G	rs373484312		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr11:60695172C>G	ENST00000453848.2	+	3	533	c.375C>G	c.(373-375)gcC>gcG	p.A125A	TMEM132A_ENST00000005286.4_Silent_p.A125A|RP11-881M11.4_ENST00000543907.1_RNA			Q24JP5	T132A_HUMAN	transmembrane protein 132A	125						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACGTGCGGGCCGTTTCAGTGG	0.632																																						uc001nqi.3																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(373-375)gcC>gcG		Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.							79.0	88.0	85.0					11																	60695172		2202	4299	6501	SO:0001819	synonymous_variant	54972					Golgi membrane|endoplasmic reticulum membrane|integral to membrane		g.chr11:60695172C>G	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.375C>G	11.37:g.60695172C>G			Somatic				TMEM132A_uc001nqj.3_Silent_p.A125A|TMEM132A_uc001nqk.3_Silent_p.A138A|TMEM132A_uc001nql.1_Silent_p.A138A	p.A125A	NM_017870	NP_060340	WXS	Illumina GAIIx	Phase_I	Q24JP5	T132A_HUMAN			2	568	+			125					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Silent	SNP	ENST00000453848.2	37	c.375C>G	CCDS44618.1																																																																																				0.632	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		13	132	0	0	0	1	0	13	132				
COL1A1	1277	broad.mit.edu	37	17	48271724	48271724	+	Silent	SNP	G	G	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr17:48271724G>A	ENST00000225964.5	-	23	1718	c.1600C>T	c.(1600-1602)Ctg>Ttg	p.L534L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	534	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GCACCAGGCAGACCAGCTTCA	0.647			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(1600-1602)Ctg>Ttg		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						59.0	67.0	64.0					17																	48271724		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48271724G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.1600C>T	17.37:g.48271724G>A			Somatic					p.L534L	NM_000088	NP_000079	WXS	Illumina GAIIx	Phase_I	P02452	CO1A1_HUMAN			22	1726	-			534			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.1600C>T	CCDS11561.1																																																																																				0.647	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			41	38	0	0	0	1	0	41	38				
LARS2	23395	broad.mit.edu	37	3	45533062	45533062	+	Silent	SNP	G	G	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr3:45533062G>A	ENST00000415258.1	+	12	1434	c.1293G>A	c.(1291-1293)cgG>cgA	p.R431R	LARS2_ENST00000414984.1_Silent_p.R388R|LARS2_ENST00000265537.3_Silent_p.R431R|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	431					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGAAAGCCCGGGGGAAGAGAG	0.542																																						uc003cop.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1291-1293)cgG>cgA		Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	L-Leucine(DB00149)						107.0	108.0	108.0					3																	45533062		2203	4300	6503	SO:0001819	synonymous_variant	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45533062G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1293G>A	3.37:g.45533062G>A			Somatic				LARS2_uc010hit.1_Silent_p.R388R	p.R431R	NM_015340	NP_056155	WXS	Illumina GAIIx	Phase_I	Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	12	1478	+			431						Silent	SNP	ENST00000415258.1	37	c.1293G>A	CCDS2728.1																																																																																				0.542	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		3	75	0	0	0	1	0	3	75				
SLC39A7	7922	broad.mit.edu	37	6	33169616	33169616	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr6:33169616T>A	ENST00000374677.3	+	2	879	c.506T>A	c.(505-507)cTt>cAt	p.L169H	RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000413614.2_5'Flank|RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.L169H|RXRB_ENST00000374685.4_5'Flank|HSD17B8_ENST00000374662.3_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	169					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CGCTCTCTACTTCAGATCTTG	0.537																																						uc003odf.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(505-507)cTt>cAt		Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.							133.0	148.0	143.0					6																	33169616		1291	2550	3841	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169616T>A	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.506T>A	6.37:g.33169616T>A	ENSP00000363809:p.Leu169His		Somatic				RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.L169H|SLC39A7_uc011dqv.2_Missense_Mutation_p.L44H|HSD17B8_uc003odi.1_5'Flank	p.L169H	NM_001077516	NP_008910	WXS	Illumina GAIIx	Phase_I	Q92504	S39A7_HUMAN			2	623	+			169					B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.506T>A	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	T	19.48	3.834830	0.71373	.	.	ENSG00000112473	ENST00000444757;ENST00000374675;ENST00000446283;ENST00000374677	T;T;T	0.59772	0.24;0.24;0.24	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.79446	0.4447	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.85701	0.1313	10	0.87932	D	0	-13.6345	12.4856	0.55871	0.0:0.0:0.0:1.0	.	150;169	B4DVK8;Q92504	.;S39A7_HUMAN	H	79;169;150;169	ENSP00000400978:L79H;ENSP00000363807:L169H;ENSP00000363809:L169H	ENSP00000363807:L169H	L	+	2	0	SLC39A7	33277594	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	6.821000	0.75272	2.056000	0.61249	0.448000	0.29417	CTT		0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		69	63	0	0	0	1	0	69	63				
TNS1	7145	broad.mit.edu	37	2	218713453	218713453	+	Missense_Mutation	SNP	G	G	A	rs376414331		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr2:218713453G>A	ENST00000171887.4	-	17	1864	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	TNS1_ENST00000430930.1_Missense_Mutation_p.S471L|TNS1_ENST00000419504.1_Missense_Mutation_p.S471L|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	471					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCACAGCCGAGCCCCCTGC	0.632																																						uc002vgt.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1411-1413)tCg>tTg		Homo sapiens tensin 1 (TNS1), mRNA.		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	64.0	67.0	66.0		1412	3.1	0.0	2		66	0,8600		0,0,4300	no	missense	TNS1	NM_022648.4	145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign	471/1736	218713453	2,13004	2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713453G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1412C>T	2.37:g.218713453G>A	ENSP00000171887:p.Ser471Leu		Somatic				TNS1_uc002vgr.2_Missense_Mutation_p.S471L|TNS1_uc002vgs.2_Missense_Mutation_p.S471L|TNS1_uc010zjv.1_Missense_Mutation_p.S471L|TNS1_uc010fvj.1_Missense_Mutation_p.S539L|TNS1_uc010fvk.1_Missense_Mutation_p.S596L|TNS1_uc010fvi.1_Missense_Mutation_p.S158L	p.S471L	NM_022648	NP_072174	WXS	Illumina GAIIx	Phase_I	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	16	1810	-		Renal(207;0.0483)|Lung NSC(271;0.213)	471					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1412C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	0.053	-1.244118	0.01481	4.54E-4	0.0	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93859	-2.79;-2.79;-2.79;-3.3	4.9	3.1	0.35709	.	0.424346	0.21661	N	0.071019	D	0.85561	0.5725	L	0.29908	0.895	0.09310	N	0.999997	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.69859	-0.5031	10	0.18710	T	0.47	.	5.8788	0.18844	0.0891:0.0:0.5727:0.3382	.	471;525;471;471;471	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	L	471;471;471;596	ENSP00000171887:S471L;ENSP00000408724:S471L;ENSP00000406016:S471L;ENSP00000405460:S596L	ENSP00000171887:S471L	S	-	2	0	TNS1	218421698	0.146000	0.22672	0.005000	0.12908	0.012000	0.07955	1.304000	0.33482	0.671000	0.31185	-1.288000	0.01363	TCG		0.632	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	92	0	0	0	1	0	3	92				
RCOR1	23186	broad.mit.edu	37	14	103148316	103148316	+	Splice_Site	SNP	G	G	T			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr14:103148316G>T	ENST00000570597.1	+	3	436		c.e3+1		RCOR1_ENST00000262241.6_Splice_Site			Q9UKL0	RCOR1_HUMAN	REST corepressor 1						blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						GAAGCAAAGTGTAAGTCTTGG	0.378																																						uc001ymb.3																			1	Unknown(1)	p.?(1)	upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						c.e3+1		Homo sapiens REST corepressor 1 (RCOR1), mRNA.							105.0	94.0	98.0					14																	103148316		2203	4300	6503	SO:0001630	splice_region_variant	23186				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding	g.chr14:103148316G>T	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.436+1G>T	14.37:g.103148316G>T			Somatic					p.L146_splice	NM_015156	NP_055971	WXS	Illumina GAIIx	Phase_I	Q9UKL0	RCOR1_HUMAN			3	673	+			146			ELM2.|Interaction with HDAC1.		Q15044|Q6P2I9|Q86VG5	Splice_Site	SNP	ENST00000570597.1	37	c.436_splice		.	.	.	.	.	.	.	.	.	.	G	18.89	3.718560	0.68844	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6278	0.88097	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RCOR1	102218069	1.000000	0.71417	0.999000	0.59377	0.790000	0.44656	6.373000	0.73128	2.451000	0.82905	0.655000	0.94253	.		0.378	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	Intron	3	54	0	0	0	1	0	3	54				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		54	70	0	0	0	1	0	54	70				
TRIM67	440730	broad.mit.edu	37	1	231299576	231299576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr1:231299576delG	ENST00000366653.5	+	1	861	c.861delG	c.(859-861)gcgfs	p.A287fs	TRIM67_ENST00000366652.2_Frame_Shift_Del_p.A287fs|TRIM67_ENST00000449018.3_Frame_Shift_Del_p.A225fs|TRIM67_ENST00000444294.3_Frame_Shift_Del_p.A287fs			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	287					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CGGGAGGCGCGGGGGCGGGGG	0.756																																						uc009xfn.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(859-861)gcgfs		Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.																																				SO:0001589	frameshift_variant	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299576delG	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.861delG	1.37:g.231299576delG	ENSP00000355613:p.Ala287fs		Somatic					p.A287fs	NM_001004342	NP_001004342	WXS	Illumina GAIIx	Phase_I	Q6ZTA4	TRI67_HUMAN			0	903	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	287					Q5TER7|Q5TER8|Q7Z4K7	Frame_Shift_Del	DEL	ENST00000366653.5	37	c.861delG	CCDS44333.1																																																																																				0.756	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		2	4						2	4	---	---	---	---
COG8	84342	broad.mit.edu	37	16	69366761	69366761	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3O7-01A-11D-A21Z-08	TCGA-EM-A3O7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	170b4810-6ae0-416c-8f15-01352110ddff	4db51cf4-0222-4e25-bf89-39317d38b490	g.chr16:69366761delG	ENST00000306875.4	-	4	1552	c.1438delC	c.(1438-1440)catfs	p.H480fs	COG8_ENST00000562081.1_Frame_Shift_Del_p.H480fs|PDF_ENST00000288022.1_5'Flank|RP11-343C2.12_ENST00000562949.1_Intron	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	480					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCAGCGCGATGGAAGGCCAGG	0.502																																						uc002ewy.2																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(1438-1440)catfs		Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.							78.0	76.0	76.0					16																	69366761		2198	4300	6498	SO:0001589	frameshift_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69366761delG	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.1438delC	16.37:g.69366761delG	ENSP00000305459:p.His480fs		Somatic				PDF_uc002ewx.1_5'Flank	p.H480fs	NM_032382	NP_115758	WXS	Illumina GAIIx	Phase_I	Q96MW5	COG8_HUMAN			3	1509	-			480					Q0VAK2|Q8WVV6|Q9H6F8	Frame_Shift_Del	DEL	ENST00000306875.4	37	c.1438delC	CCDS10876.1																																																																																				0.502	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		25	40						25	40	---	---	---	---
