#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
SMCHD1	23347	broad.mit.edu	37	18	2728543	2728543	+	Silent	SNP	A	A	G			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr18:2728543A>G	ENST00000320876.6	+	23	3200	c.2862A>G	c.(2860-2862)ttA>ttG	p.L954L	SMCHD1_ENST00000609587.1_3'UTR|RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L954L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	954					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TGGAAGTTTTAGATGAATCAG	0.358																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2860-2862)ttA>ttG		structural maintenance of chromosomes flexible hinge domain containing 1							104.0	98.0	100.0					18																	2728543		1847	4093	5940	SO:0001819	synonymous_variant	23347				chromosome organization		ATP binding	g.chr18:2728543A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2862A>G	18.37:g.2728543A>G						RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.L954L	p.L954L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			23	3200	+			954					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	37	c.2862A>G	CCDS45822.1																																																																																				0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			21	27	0	0	0	1	0	21	27				
ZFYVE20	64145	broad.mit.edu	37	3	15124046	15124046	+	Missense_Mutation	SNP	A	A	T			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr3:15124046A>T	ENST00000253699.3	-	9	1281	c.668T>A	c.(667-669)gTc>gAc	p.V223D	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V223D|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	223	Necessary for the correct targeting to endosomes.|Ser-rich.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGAGCCATGGACACTGTTGGG	0.592																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(667-669)gTc>gAc		zinc finger, FYVE domain containing 20							124.0	90.0	101.0					3																	15124046		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15124046A>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.668T>A	3.37:g.15124046A>T	ENSP00000253699:p.Val223Asp					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.V223D|ZFYVE20_ENST00000435849.3_Intron|ZFYVE20_ENST00000449964.2_Intron	p.V223D	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			9	1281	-			223			Necessary for the correct targeting to endosomes.|Ser-rich.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.668T>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	A	17.95	3.514854	0.64634	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.55930	0.49;0.49	5.79	5.79	0.91817	Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.314434	0.34046	N	0.004308	T	0.32164	0.0820	N	0.03608	-0.345	0.80722	D	1	P	0.47484	0.896	P	0.45377	0.478	T	0.21211	-1.0252	10	0.27785	T	0.31	-16.7052	10.4658	0.44607	0.9277:0.0:0.0723:0.0	.	223	Q9H1K0	RBNS5_HUMAN	D	223	ENSP00000253699:V223D;ENSP00000422551:V223D	ENSP00000253699:V223D	V	-	2	0	ZFYVE20	15099050	0.998000	0.40836	0.986000	0.45419	0.982000	0.71751	3.343000	0.52167	2.205000	0.71048	0.477000	0.44152	GTC		0.592	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		5	57	0	0	0	1	0	5	57				
PDSS1	23590	broad.mit.edu	37	10	27035361	27035361	+	Missense_Mutation	SNP	C	C	A			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr10:27035361C>A	ENST00000376215.5	+	12	1260	c.1207C>A	c.(1207-1209)Ctc>Atc	p.L403I	PDSS1_ENST00000376203.5_3'UTR|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	403					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAGAGATGCCCTCATTCAGCT	0.433																																						ENST00000376215.5																			0				autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						c.(1207-1209)Ctc>Atc		prenyl (decaprenyl) diphosphate synthase, subunit 1							116.0	99.0	105.0					10																	27035361		2203	4300	6503	SO:0001583	missense	23590				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity	g.chr10:27035361C>A	AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.1207C>A	10.37:g.27035361C>A	ENSP00000365388:p.Leu403Ile					PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_3'UTR	p.L403I	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN			12	1260	+			403					Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	c.1207C>A	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187057	0.94923	.	.	ENSG00000148459	ENST00000376215;ENST00000396343	T	0.80566	-1.39	5.54	5.54	0.83059	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.92877	0.7734	H	0.95539	3.685	0.80722	D	1	D;D	0.61697	0.987;0.99	D;P	0.66979	0.948;0.831	D	0.94325	0.7557	10	0.62326	D	0.03	-24.5046	19.4716	0.94965	0.0:1.0:0.0:0.0	.	141;403	B4DJY1;Q5T2R2	.;DPS1_HUMAN	I	403;364	ENSP00000365388:L403I	ENSP00000365388:L403I	L	+	1	0	PDSS1	27075367	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.585000	0.87301	0.655000	0.94253	CTC		0.433	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			20	40	1	0	7.45023e-12	1	8.1076e-12	20	40				
PDXDC2P	283970	broad.mit.edu	37	16	70016573	70016573	+	RNA	SNP	G	G	A	rs3748384	byFrequency	TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr16:70016573G>A	ENST00000531894.1	-	0	2361				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										TCCTGTCTACGGCGGTTGGAC	0.483													.|||	2788	0.556709	0.4546	0.428	5008	,	,		18600	0.8869		0.3837	False		,,,				2504	0.6237					ENST00000325845.7																			0				breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						c.(292-294)Cgt>Tgt																																								0							g.chr16:70016573G>A			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70016573G>A						RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R113C|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000525562.1_5'UTR	p.R98C							22	2361	-								A8K9Z5	Missense_Mutation	SNP	ENST00000531894.1	37	c.292C>T		1036	0.47435897435897434	191	0.3882113821138211	154	0.425414364640884	428	0.7482517482517482	263	0.3469656992084433	.	2.732	-0.264143	0.05754	.	.	ENSG00000226232	ENST00000532298;ENST00000325845	T;T	0.46063	0.88;0.88	0.659	-1.01	0.10169	.	.	.	.	.	T	0.00012	0.0000	.	.	.	.	.	.	B	0.17038	0.02	B	0.16722	0.016	T	0.29366	-1.0014	6	0.54805	T	0.06	.	.	.	.	rs3748384;rs8046901;rs3748384	94	A8MZ50	NPIL4_HUMAN	C	113;98	ENSP00000448651:R113C;ENSP00000449128:R98C	ENSP00000449128:R98C	R	-	1	0	RP11-419C5.2	68574074	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.614000	0.05604	-0.254000	0.09500	-0.576000	0.04144	CGT		0.483	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			5	39	0	0	0	1	0	5	39				
OSCP1	127700	broad.mit.edu	37	1	36898067	36898067	+	Missense_Mutation	SNP	T	T	C	rs34409118	byFrequency	TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr1:36898067T>C	ENST00000356637.5	-	4	484	c.421A>G	c.(421-423)Acc>Gcc	p.T141A	OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	141			T -> A (in dbSNP:rs34409118). {ECO:0000269|PubMed:16006562}.		transport (GO:0006810)	plasma membrane (GO:0005886)		p.T141A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGCAGGATGGTTGGGGAGTCT	0.502													T|||	1042	0.208067	0.1604	0.1369	5008	,	,		21091	0.2599		0.2048	False		,,,				2504	0.273					ENST00000356637.5																			2	Substitution - Missense(2)	p.T141A(2)	stomach(1)|pancreas(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						c.(421-423)Acc>Gcc		organic solute carrier partner 1		T	ALA/THR,ALA/THR	794,3612	317.4+/-295.1	67,660,1476	128.0	113.0	118.0		391,391	-1.4	1.0	1	dbSNP_126	118	1836,6764	329.8+/-318.9	202,1432,2666	yes	missense,missense	OSCP1	NM_145047.4,NM_206837.2	58,58	269,2092,4142	CC,CT,TT		21.3488,18.0209,20.2214	benign,benign	131/380,131/224	36898067	2630,10376	2203	4300	6503	SO:0001583	missense	127700				transport	basal plasma membrane		g.chr1:36898067T>C		CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.421A>G	1.37:g.36898067T>C	ENSP00000349052:p.Thr141Ala					OSCP1_ENST00000315643.9_Missense_Mutation_p.T141A|OSCP1_ENST00000433045.2_Missense_Mutation_p.T86A|OSCP1_ENST00000235532.5_Missense_Mutation_p.T131A|OSCP1_ENST00000354267.3_Missense_Mutation_p.T131A	p.T141A			Q8WVF1	OSCP1_HUMAN			4	484	-			141		T -> A (in dbSNP:rs34409118).			A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	ENST00000356637.5	37	c.421A>G		420	0.19230769230769232	65	0.13211382113821138	58	0.16022099447513813	144	0.2517482517482518	153	0.20184696569920843	T	1.622	-0.521352	0.04171	0.180209	0.213488	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045;ENST00000445843;ENST00000315643;ENST00000354267	T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64	5.6	-1.39	0.08997	.	0.615809	0.16766	N	0.200427	T	0.00012	0.0000	N	0.01228	-0.945	0.45914	P	0.0012499999999999734	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.37619	-0.9698	9	0.05620	T	0.96	.	7.0272	0.24946	0.0:0.3174:0.1172:0.5655	rs34409118	131;131;141	Q8WVF1-4;Q8WVF1-3;Q8WVF1	.;.;OSCP1_HUMAN	A	131;141;86;101;141;131	ENSP00000235532:T131A;ENSP00000349052:T141A;ENSP00000390820:T86A;ENSP00000396417:T101A;ENSP00000314541:T141A;ENSP00000346216:T131A	ENSP00000235532:T131A	T	-	1	0	OSCP1	36670654	0.980000	0.34600	0.993000	0.49108	0.462000	0.32619	0.340000	0.19892	-0.153000	0.11137	0.533000	0.62120	ACC		0.502	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000389759.1	NM_145047		6	88	0	0	0	1	0	6	88				
PAQR4	124222	broad.mit.edu	37	16	3019765	3019765	+	Silent	SNP	G	G	A			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr16:3019765G>A	ENST00000318782.8	+	1	520	c.90G>A	c.(88-90)cgG>cgA	p.R30R	PAQR4_ENST00000572687.1_Silent_p.R30R|PAQR4_ENST00000574988.1_5'Flank|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Silent_p.R30R|PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_Intron	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	30						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCGGGTACCGGCCCGCCAGCA	0.692																																						ENST00000318782.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(88-90)cgG>cgA		progestin and adipoQ receptor family member IV							11.0	13.0	13.0					16																	3019765		2046	4072	6118	SO:0001819	synonymous_variant	124222					integral to membrane	receptor activity	g.chr16:3019765G>A		CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073			26386	protein-coding gene	gene with protein product		614578				12477932	Standard	XM_005255112		Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000318782.8:c.90G>A	16.37:g.3019765G>A						PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.R30R|PAQR4_ENST00000572687.1_Silent_p.R30R|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000576565.1_Intron	p.R30R	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN			1	520	+			30					A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	Silent	SNP	ENST00000318782.8	37	c.90G>A	CCDS10485.1																																																																																				0.692	PAQR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250966.1	NM_152341		10	22	0	0	0	1	0	10	22				
KYNU	8942	broad.mit.edu	37	2	143790821	143790821	+	Silent	SNP	T	T	G			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr2:143790821T>G	ENST00000264170.4	+	12	1230	c.972T>G	c.(970-972)ccT>ccG	p.P324P	KYNU_ENST00000409512.1_Silent_p.P324P	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		AGTTAATCCCTGGGGTCTGTG	0.378																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(970-972)ccT>ccG		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						268.0	264.0	265.0					2																	143790821		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143790821T>G	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.972T>G	2.37:g.143790821T>G						KYNU_ENST00000409512.1_Silent_p.P324P	p.P324P	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	12	1230	+			324						Silent	SNP	ENST00000264170.4	37	c.972T>G	CCDS2183.1																																																																																				0.378	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		54	97	0	0	0	1	0	54	97				
PCK2	5106	broad.mit.edu	37	14	24569430	24569430	+	Intron	SNP	C	C	T	rs541317046		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr14:24569430C>T	ENST00000216780.4	+	7	1502				PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000396973.4_Silent_p.C414C|PCK2_ENST00000561286.1_Intron	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)						carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGGTATGTGCGGTGGGGAAG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19698	0.0		0.0	False		,,,				2504	0.0					ENST00000396973.4																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1240-1242)tgC>tgT		phosphoenolpyruvate carboxykinase 2 (mitochondrial)							109.0	73.0	85.0					14																	24569430		2203	4300	6503	SO:0001627	intron_variant	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24569430C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1234+8C>T	14.37:g.24569430C>T						PCK2_ENST00000216780.4_Intron|PCK2_ENST00000545054.2_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_Intron|NRL_ENST00000561028.1_Intron	p.C414C	NM_001018073.1	NP_001018083.1	Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	7	1489	+			0					O43253|Q86U01|Q9BV62	Silent	SNP	ENST00000216780.4	37	c.1242C>T	CCDS9609.1																																																																																				0.577	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		5	44	0	0	0	1	0	5	44				
KRT80	144501	broad.mit.edu	37	12	52567461	52567461	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr12:52567461C>T	ENST00000394815.2	-	5	851	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	KRT80_ENST00000313234.5_Missense_Mutation_p.V252M	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	252	Coil 2.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		ACCTCCTCCACGATGCCGCTC	0.662																																					GBM(178;2309 2916 15678 35873)	ENST00000313234.5																			0				endometrium(2)|large_intestine(2)|lung(1)	5						c.(754-756)Gtg>Atg		keratin 80							87.0	75.0	79.0					12																	52567461		2203	4300	6503	SO:0001583	missense	144501					keratin filament	structural molecule activity	g.chr12:52567461C>T	BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.754G>A	12.37:g.52567461C>T	ENSP00000378292:p.Val252Met					KRT80_ENST00000394815.2_Missense_Mutation_p.V252M	p.V252M	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	5	851	-			252			Coil 2.|Rod.		Q6P1A5|Q7Z3Q0	Missense_Mutation	SNP	ENST00000394815.2	37	c.754G>A	CCDS8821.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836327	0.71373	.	.	ENSG00000167767	ENST00000313234;ENST00000394815	D;D	0.89343	-2.5;-2.5	4.23	3.34	0.38264	Filament (1);	0.000000	0.34435	N	0.003969	T	0.74650	0.3744	N	0.08118	0	0.36658	D	0.87777	P;P;P	0.48350	0.889;0.909;0.889	B;B;B	0.38842	0.186;0.283;0.186	T	0.79722	-0.1684	10	0.87932	D	0	.	8.5867	0.33662	0.0:0.7537:0.0:0.2463	.	252;252;287	Q6KB66-2;Q6KB66;Q6KB66-3	.;K2C80_HUMAN;.	M	252	ENSP00000369361:V252M;ENSP00000378292:V252M	ENSP00000369361:V252M	V	-	1	0	KRT80	50853728	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.893000	0.28336	1.152000	0.42452	0.561000	0.74099	GTG		0.662	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507		5	73	0	0	0	1	0	5	73				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		4	8	1	0	0.00909568	1	0.00934834	4	8				
MT-ND5	4540	broad.mit.edu	37	M	12439	12439	+	Missense_Mutation	SNP	T	T	C			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chrM:12439T>C	ENST00000361567.2	+	1	103	c.103T>C	c.(103-105)Tat>Cat	p.Y35H	MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	35					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CATACCCCCATTATGTAAAAT	0.418																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(103-105)Tat>Cat		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12439T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.103T>C	M.37:g.12439T>C	ENSP00000354813:p.Tyr35His						p.Y35H			P03915	NU5M_HUMAN			1	103	+			35					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.103T>C																																																																																					0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		3	6	0	0	0	1	0	3	6				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	42	0	0	0	1	0	4	42				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		26	32	0	0	0	1	0	26	32				
ANGPTL7	10218	broad.mit.edu	37	1	11249916	11249916	+	Missense_Mutation	SNP	C	C	T			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr1:11249916C>T	ENST00000376819.3	+	1	519	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	94					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)		p.R94W(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGGAGTCGCGGCTCACAGA	0.557																																						ENST00000376819.3																			1	Substitution - Missense(1)	p.R94W(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(280-282)Cgg>Tgg		angiopoietin-like 7							94.0	87.0	89.0					1																	11249916		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11249916C>T	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.280C>T	1.37:g.11249916C>T	ENSP00000366015:p.Arg94Trp					MTOR_ENST00000361445.4_Intron	p.R94W	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	1	519	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	94					B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.280C>T	CCDS128.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277660	0.80692	.	.	ENSG00000171819	ENST00000376819	T	0.56275	0.47	5.07	4.15	0.48705	.	0.363377	0.28470	N	0.015232	T	0.62245	0.2412	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64236	-0.6455	10	0.51188	T	0.08	.	15.1848	0.72993	0.1422:0.8578:0.0:0.0	.	94	O43827	ANGL7_HUMAN	W	94	ENSP00000366015:R94W	ENSP00000366015:R94W	R	+	1	2	ANGPTL7	11172503	1.000000	0.71417	0.883000	0.34634	0.956000	0.61745	4.588000	0.60999	1.251000	0.43983	0.655000	0.94253	CGG		0.557	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		4	34	0	0	0	1	0	4	34				
UBE4A	9354	broad.mit.edu	37	11	118240215	118240215	+	Missense_Mutation	SNP	G	G	C			TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr11:118240215G>C	ENST00000431736.2	+	4	445	c.373G>C	c.(373-375)Gat>Cat	p.D125H	UBE4A_ENST00000252108.3_Missense_Mutation_p.D125H					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGAGCTAGAAGATCAAGACTG	0.428																																						ENST00000252108.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(373-375)Gat>Cat		ubiquitination factor E4A							155.0	143.0	147.0					11																	118240215		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118240215G>C	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.373G>C	11.37:g.118240215G>C	ENSP00000387362:p.Asp125His					UBE4A_ENST00000431736.2_Missense_Mutation_p.D125H	p.D125H	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	504	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	125						Missense_Mutation	SNP	ENST00000431736.2	37	c.373G>C	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056451	0.76074	.	.	ENSG00000110344	ENST00000252108;ENST00000431736	T;T	0.43294	0.95;0.95	5.95	5.95	0.96441	.	0.098369	0.64402	D	0.000002	T	0.43831	0.1265	L	0.27053	0.805	0.80722	D	1	B;P	0.36315	0.412;0.547	B;B	0.44224	0.172;0.444	T	0.31641	-0.9936	10	0.54805	T	0.06	-12.6995	20.3931	0.98965	0.0:0.0:1.0:0.0	.	125;125	Q14139;Q14139-2	UBE4A_HUMAN;.	H	125	ENSP00000252108:D125H;ENSP00000387362:D125H	ENSP00000252108:D125H	D	+	1	0	UBE4A	117745425	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.144000	0.94629	2.824000	0.97209	0.655000	0.94253	GAT		0.428	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		5	42	0	0	0	1	0	5	42				
STAG3L2	442582	broad.mit.edu	37	7	74306378	74306378	+	RNA	DEL	C	C	-	rs587771482	byFrequency	TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr7:74306378delC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGGCGGGGGGCCCCGCGCTCC	0.731													cccc|CCCC|CCC|deletion	11	0.00219649	0.0	0.0029	5008	,	,		12673	0.0		0.0089	False		,,,				2504	0.0					ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74306378delC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74306378delC										P0CL84	ST3L2_HUMAN			0	296	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.731	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		3	5						3	5	---	---	---	---
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs371516340|rs565664344|rs71369530	byFrequency	TCGA-L6-A4ET-01A-11D-A257-08	TCGA-L6-A4ET-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546b97b0-ab82-42a1-bbd2-241523278ec3	ea509942-fcac-486f-ac3d-37457bab29db	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				anatomical structure morphogenesis (GO:0009653)|cell migration (GO:0016477)|embryonic organ morphogenesis (GO:0048562)|hair follicle morphogenesis (GO:0031069)|hard palate development (GO:0060022)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pharynx development (GO:0060465)|positive regulation of transcription, DNA-templated (GO:0045893)|soft palate development (GO:0060023)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767																																						ENST00000375123.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(505-510)del		forkhead box E1 (thyroid transcription factor 2)																																				SO:0001651	inframe_deletion	2304				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:100616701_100616706delGCCGCC	U89995	CCDS35078.1	9q22	2008-09-05			ENSG00000178919	ENSG00000178919		"""Forkhead boxes"""	3806	protein-coding gene	gene with protein product		602617	"""forkhead box E2"""	FKHL15, TITF2, FOXE2		9169137, 9697705	Standard	NM_004473		Approved	TTF-2, HFKH4	uc004axu.3	O00358	OTTHUMG00000020333	ENST00000375123.3:c.505_510delGCCGCC	9.37:g.100616707_100616712delGCCGCC	ENSP00000364265:p.Ala177_Ala178del						p.AA177del	NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN			1	1166_1171	+		Acute lymphoblastic leukemia(62;0.158)	177			Ala-rich.|Poly-Ala.		O75765|Q5T109|Q99526	In_Frame_Del	DEL	ENST00000375123.3	37	c.505_510delGCCGCC	CCDS35078.1																																																																																				0.767	FOXE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053341.1			4	8						4	8	---	---	---	---
