#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DPH2	1802	broad.mit.edu	37	1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:44437269C>G	ENST00000255108.3	+	4	867	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	232					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCTTGACCCAGACCTGAGT	0.622																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(694-696)cCa>cGa		DPH2 homolog (S. cerevisiae)							69.0	72.0	71.0					1																	44437269		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437269C>G	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.695C>G	1.37:g.44437269C>G	ENSP00000255108:p.Pro232Arg					DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000529729.1_3'UTR	p.P232R	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN			4	867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	232					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.695C>G	CCDS504.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449523	0.43531	.	.	ENSG00000132768	ENST00000255108;ENST00000412950	.	.	.	4.61	4.61	0.57282	.	0.183485	0.49305	D	0.000149	T	0.42585	0.1209	N	0.14661	0.345	0.36964	D	0.893492	D;D	0.71674	0.996;0.998	P;P	0.60789	0.862;0.879	T	0.43261	-0.9402	8	.	.	.	-12.1396	8.0092	0.30342	0.0:0.7753:0.0:0.2247	.	97;232	B4DNI8;Q9BQC3	.;DPH2_HUMAN	R	232;97	.	.	P	+	2	0	DPH2	44209856	1.000000	0.71417	0.804000	0.32291	0.662000	0.39071	2.479000	0.45197	2.381000	0.81170	0.552000	0.68991	CCA		0.622	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		4	141	4	141	---	---	---	---
SYT11	23208	broad.mit.edu	37	1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:155838359G>C	ENST00000368324.4	+	2	891	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572																																						ENST00000368324.4																			1	Substitution - Missense(1)	p.R213T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(637-639)aGa>aCa		synaptotagmin XI							106.0	90.0	96.0					1																	155838359		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838359G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.638G>C	1.37:g.155838359G>C	ENSP00000357307:p.Arg213Thr					SYT11_ENST00000539162.1_Intron	p.R213T	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	891	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		213			C2 1.		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.638G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	32	5.106386	0.94292	.	.	ENSG00000132718	ENST00000368324	T	0.71579	-0.58	5.97	5.97	0.96955	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.63428	1.95	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.81551	-0.0881	10	0.87932	D	0	.	20.0189	0.97489	0.0:0.0:1.0:0.0	.	213	Q9BT88	SYT11_HUMAN	T	213	ENSP00000357307:R213T	ENSP00000357307:R213T	R	+	2	0	SYT11	154104983	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	9.835000	0.99442	2.828000	0.97474	0.655000	0.94253	AGA		0.572	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		3	76	3	76	---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr2:99985894T>C	ENST00000289371.6	+	8	1629	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	476					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.M476T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGAAGTTATGGAACAAGGA	0.353																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.6																			1	Substitution - Missense(1)	p.M476T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1426-1428)aTg>aCg		eukaryotic translation initiation factor 5B							107.0	104.0	105.0					2																	99985894		1843	4085	5928	SO:0001583	missense	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99985894T>C	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.1427T>C	2.37:g.99985894T>C	ENSP00000289371:p.Met476Thr						p.M476T	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			8	1629	+								O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	c.1427T>C	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	t	0.009	-1.845796	0.00568	.	.	ENSG00000158417	ENST00000289371	T	0.39592	1.07	5.77	0.217	0.15264	.	.	.	.	.	T	0.18002	0.0432	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27640	-1.0068	8	.	.	.	-1.0E-4	9.624	0.39739	0.0:0.322:0.0:0.678	.	476	O60841	IF2P_HUMAN	T	476	ENSP00000289371:M476T	.	M	+	2	0	EIF5B	99352326	0.197000	0.23362	0.003000	0.11579	0.062000	0.15995	0.614000	0.24314	0.119000	0.18210	-0.971000	0.02607	ATG		0.353	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		7	62	7	62	---	---	---	---
SLC6A18	348932	broad.mit.edu	37	5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:1239617T>C	ENST00000324642.3	+	6	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	262					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCAGATATTCTTCTCTCTG	0.572																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(784-786)tTc>tCc		solute carrier family 6 (neutral amino acid transporter), member 18							113.0	113.0	113.0					5																	1239617		2203	4300	6503	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1239617T>C	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.785T>C	5.37:g.1239617T>C	ENSP00000323549:p.Phe262Ser					SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	p.F262S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		6	908	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		262						Missense_Mutation	SNP	ENST00000324642.3	37	c.785T>C	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588982	0.86851	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.81247	-1.47;-1.47	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	H	0.96604	3.85	0.50813	D	0.999892	D	0.89917	1.0	D	0.97110	1.0	D	0.94582	0.7780	10	0.87932	D	0	.	13.1311	0.59382	0.0:0.0:0.0:1.0	.	262	Q96N87	S6A18_HUMAN	S	262;257	ENSP00000323549:F262S;ENSP00000296821:F257S	ENSP00000296821:F257S	F	+	2	0	SLC6A18	1292617	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	7.450000	0.80656	1.588000	0.49971	0.454000	0.30748	TTC		0.572	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		3	150	3	150	---	---	---	---
HGF	3082	broad.mit.edu	37	7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:81359036G>T	ENST00000222390.5	-	8	1151	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	309	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.Q309K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTCCTTGACCTTGGATG	0.398																																						ENST00000222390.5																			1	Substitution - Missense(1)	p.Q309K(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(925-927)Caa>Aaa		hepatocyte growth factor (hepapoietin A; scatter factor)							158.0	149.0	152.0					7																	81359036		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81359036G>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.925C>A	7.37:g.81359036G>T	ENSP00000222390:p.Gln309Lys					HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	p.Q309K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			8	1151	-			309			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.925C>A	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532342	0.27387	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	T;T	0.61392	0.11;0.11	5.46	5.46	0.80206	Kringle (4);Kringle-like fold (1);	0.099162	0.64402	D	0.000002	T	0.49457	0.1558	N	0.02111	-0.68	0.80722	D	1	D;D	0.65815	0.988;0.995	D;D	0.78314	0.985;0.991	T	0.50233	-0.8852	10	0.05525	T	0.97	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	304;309	P14210-3;P14210	.;HGF_HUMAN	K	309;304	ENSP00000222390:Q309K;ENSP00000391238:Q304K	ENSP00000222390:Q309K	Q	-	1	0	HGF	81196972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.547000	0.60712	2.702000	0.92279	0.655000	0.94253	CAA		0.398	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		10	130	10	130	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:37516001T>C	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGGAAGATGATGTTTTCCTGC	0.522																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2596-2598)Atc>Gtc		F-box protein 10							232.0	204.0	213.0					9																	37516001		1949	4149	6098	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37516001T>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2596A>G	9.37:g.37516001T>C	ENSP00000403802:p.Ile866Val					FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V|RP11-613M10.8_ENST00000544475.1_5'UTR	p.I866V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	10	2644	-			866					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2596A>G	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051501	0.55218	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.80214	-1.35;-1.35	5.64	3.1	0.35709	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.452007	0.24113	N	0.041438	T	0.65101	0.2659	N	0.14661	0.345	0.29340	N	0.866051	B;B;B	0.13594	0.008;0.003;0.003	B;B;B	0.19666	0.026;0.011;0.011	T	0.56956	-0.7893	10	0.29301	T	0.29	-17.1518	11.6666	0.51376	0.0:0.0:0.3859:0.6141	.	745;391;866	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	866;391	ENSP00000403802:I866V;ENSP00000441307:I391V	ENSP00000403802:I866V	I	-	1	0	FBXO10	37506001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.968000	0.40500	0.936000	0.37367	0.418000	0.28097	ATC		0.522	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			4	141	4	141	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:104314514A>T	ENST00000389120.3	+	12	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	500					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K500N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATAAGCGGAAATTGAGAGAAG	0.448																																						ENST00000389120.3																			1	Substitution - Missense(1)	p.K500N(1)	prostate(1)	breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1498-1500)aaA>aaT		ring finger protein 20, E3 ubiquitin protein ligase							120.0	119.0	119.0					9																	104314514		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314514A>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1500A>T	9.37:g.104314514A>T	ENSP00000373772:p.Lys500Asn						p.K500N	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	12	1590	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	500					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1500A>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798085	0.50208	.	.	ENSG00000155827	ENST00000389120	T	0.38401	1.14	6.17	-1.92	0.07618	.	0.041302	0.85682	D	0.000000	T	0.26304	0.0642	L	0.52126	1.63	0.38413	D	0.945975	P	0.37781	0.608	B	0.35413	0.202	T	0.04481	-1.0948	10	0.54805	T	0.06	-24.9666	8.3323	0.32193	0.4509:0.0:0.4411:0.108	.	500	Q5VTR2	BRE1A_HUMAN	N	500	ENSP00000373772:K500N	ENSP00000373772:K500N	K	+	3	2	RNF20	103354335	0.009000	0.17119	0.086000	0.20670	0.989000	0.77384	0.074000	0.14662	-0.574000	0.05990	0.533000	0.62120	AAA		0.448	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		7	105	7	105	---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:125613481T>C	ENST00000373670.1	-	19	3859	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1087					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S1087G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGAGAACTGATACCAAGC	0.363																																						ENST00000373670.1																			1	Substitution - Missense(1)	p.S1087G(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(3259-3261)Agt>Ggt		ring finger and CCCH-type domains 2							128.0	121.0	123.0					9																	125613481		1884	4113	5997	SO:0001583	missense	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125613481T>C	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3259A>G	9.37:g.125613481T>C	ENSP00000362774:p.Ser1087Gly					RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G	p.S1087G			Q9HBD1	RC3H2_HUMAN			19	3859	-			1087					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	c.3259A>G	CCDS43874.1	.	.	.	.	.	.	.	.	.	.	T	16.32	3.089469	0.55968	.	.	ENSG00000056586	ENST00000373670;ENST00000357244	T;T	0.46819	0.86;0.86	5.89	5.89	0.94794	.	0.256586	0.34484	N	0.003928	T	0.30854	0.0778	N	0.08118	0	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.12451	-1.0547	10	0.72032	D	0.01	-18.9522	14.0568	0.64774	0.0:0.0:0.0:1.0	.	1087	Q9HBD1	RC3H2_HUMAN	G	1087	ENSP00000362774:S1087G;ENSP00000349783:S1087G	ENSP00000349783:S1087G	S	-	1	0	RC3H2	124653302	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.796000	0.47869	2.254000	0.74563	0.533000	0.62120	AGT		0.363	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		7	129	7	129	---	---	---	---
CD248	57124	broad.mit.edu	37	11	66082756	66082756	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:66082756C>T	ENST00000311330.3	-	1	1759	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	581	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)	p.Q581Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						TAATGGGAAGCTGGGTGGCCT	0.632																																						ENST00000311330.3																			1	Substitution - coding silent(1)	p.Q581Q(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1741-1743)caG>caA		CD248 molecule, endosialin	Cefalotin(DB00456)						127.0	140.0	135.0					11																	66082756		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082756C>T	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1743G>A	11.37:g.66082756C>T						RP11-867G23.13_ENST00000534065.1_RNA	p.Q581Q	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1759	-			581			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1743G>A	CCDS8134.1																																																																																				0.632	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		10	177	10	177	---	---	---	---
ACAT1	38	broad.mit.edu	37	11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:108002646G>T	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L|ACAT1_ENST00000526119.1_3'UTR	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	29					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)	p.V29L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AATAAGATATGTGGAACGGAG	0.229																																						ENST00000265838.4																			1	Substitution - Missense(1)	p.V29L(1)	prostate(1)	endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10						c.(85-87)Gtg>Ttg		acetyl-CoA acetyltransferase 1	Sulfasalazine(DB00795)						31.0	36.0	34.0					11																	108002646		2166	4255	6421	SO:0001583	missense	38				acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	g.chr11:108002646G>T	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.85G>T	11.37:g.108002646G>T	ENSP00000265838:p.Val29Leu					ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	2	176	+		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	29					B2R6H1|G3XAB4|Q96FG8	Missense_Mutation	SNP	ENST00000265838.4	37	c.85G>T	CCDS8339.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.321030	0.23994	.	.	ENSG00000075239	ENST00000265838;ENST00000299355	D;D	0.92858	-3.01;-3.12	4.96	-2.98	0.05513	.	1.072560	0.07065	N	0.834369	T	0.78811	0.4342	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.0;0.004	T	0.65861	-0.6065	10	0.09338	T	0.73	-0.4046	7.199	0.25871	0.5715:0.1325:0.296:0.0	.	29;29	P24752;G3XAB4	THIL_HUMAN;.	L	29	ENSP00000265838:V29L;ENSP00000299355:V29L	ENSP00000265838:V29L	V	+	1	0	ACAT1	107507856	0.000000	0.05858	0.001000	0.08648	0.864000	0.49448	-0.827000	0.04424	-0.721000	0.04929	0.467000	0.42956	GTG		0.229	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389474.1	NM_000019		3	55	3	55	---	---	---	---
RTL1	388015	broad.mit.edu	37	14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr14:101348187T>C	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G	MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	980					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.D980G(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCATGACGTCAAAGTTGAA	0.557																																						ENST00000534062.1																			1	Substitution - Missense(1)	p.D980G(1)	prostate(1)	breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(2938-2940)gAc>gGc		retrotransposon-like 1							77.0	79.0	78.0					14																	101348187		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101348187T>C		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.2939A>G	14.37:g.101348187T>C	ENSP00000435342:p.Asp980Gly						p.D980G	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	2997	-			980					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.2939A>G	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	5.435	0.265414	0.10294	.	.	ENSG00000254656	ENST00000534062	T	0.44482	0.92	3.39	2.26	0.28386	.	0.216865	0.23483	N	0.047684	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15321	-1.0441	10	0.09590	T	0.72	.	2.4884	0.04604	0.2354:0.1334:0.0:0.6312	.	980	E9PKS8	.	G	980	ENSP00000435342:D980G	ENSP00000435342:D980G	D	-	2	0	RTL1	100417940	0.009000	0.17119	0.050000	0.19076	0.521000	0.34408	1.240000	0.32731	0.702000	0.31825	0.454000	0.30748	GAC		0.557	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		3	101	3	101	---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:74914890G>C	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000352989.5_Intron|CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	322	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.L174F(2)|p.L322F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGGAGTGCTTGGACCATGCCA	0.567																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			3	Substitution - Missense(3)	p.L174F(2)|p.L322F(1)	prostate(3)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(964-966)ttG>ttC		CDC-like kinase 3							93.0	83.0	87.0					15																	74914890		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74914890G>C	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.966G>C	15.37:g.74914890G>C	ENSP00000378505:p.Leu322Phe					CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron|CLK3_ENST00000348245.3_Missense_Mutation_p.W142S	p.L322F	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			5	1427	+			322			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.966G>C	CCDS45304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.52|13.52	2.262161|2.262161	0.39995|0.39995	.|.	.|.	ENSG00000179335|ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830|ENST00000348245	T|.	0.20598|.	2.06|.	5.75|5.75	4.78|4.78	0.61160|0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.104988|.	0.40554|.	N|.	0.001069|.	T|T	0.41236|0.41236	0.1150|0.1150	N|N	0.10837|0.10837	0.055|0.055	0.42698|0.42698	D|D	0.993604|0.993604	B;B|.	0.16603|.	0.011;0.018|.	B;B|.	0.11329|.	0.006;0.004|.	T|T	0.45891|0.45891	-0.9230|-0.9230	10|6	0.29301|0.87932	T|D	0.29|0	.|.	10.6173|10.6173	0.45458|0.45458	0.0735:0.1356:0.7908:0.0|0.0735:0.1356:0.7908:0.0	.|.	322;101|.	P49761;B3KUU7|.	CLK3_HUMAN;.|.	F|S	174;174;322|142	ENSP00000344112:L174F|.	ENSP00000344112:L174F|ENSP00000321136:W142S	L|W	+|+	3|2	2|0	CLK3|CLK3	72701943|72701943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.978000|0.978000	0.29488|0.29488	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.567	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			5	114	5	114	---	---	---	---
TOX3	27324	broad.mit.edu	37	16	52484402	52484402	+	Silent	SNP	C	C	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:52484402C>T	ENST00000219746.9	-	4	749	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_ENST00000407228.3_Silent_p.R150R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)	p.R155R(1)|p.R150R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGACGATGGACCGCATGATCA	0.562																																						ENST00000219746.9																			2	Substitution - coding silent(2)	p.R155R(1)|p.R150R(1)	prostate(2)	NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						c.(463-465)cgG>cgA		TOX high mobility group box family member 3							97.0	102.0	101.0					16																	52484402		2097	4218	6315	SO:0001819	synonymous_variant	27324				apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	g.chr16:52484402C>T	U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.465G>A	16.37:g.52484402C>T						TOX3_ENST00000407228.3_Silent_p.R150R	p.R155R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN			4	749	-			155					B4DRD0|B5MCW4	Silent	SNP	ENST00000219746.9	37	c.465G>A	CCDS54009.1																																																																																				0.562	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000422534.1	XM_049037		5	102	5	102	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:19235303G>A	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	517	6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)	p.A517T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGCCCCAACGCGGCCCTGGT	0.627																																						ENST00000314728.5																			1	Substitution - Missense(1)	p.A517T(1)	prostate(1)	breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1549-1551)Gcg>Acg		epsin 2							93.0	88.0	90.0					17																	19235303		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19235303G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1549G>A	17.37:g.19235303G>A	ENSP00000320543:p.Ala517Thr					EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T	p.A517T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			10	2033	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		517			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1549G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193375	0.78902	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.7	4.7	0.59300	.	0.211012	0.48767	D	0.000168	T	0.70037	0.3178	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.975;0.999;0.999;0.995;0.998	T	0.76639	-0.2885	10	0.62326	D	0.03	-21.5308	17.9955	0.89182	0.0:0.0:1.0:0.0	.	460;453;225;232;460;517	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	T	460;232;517;460;460	ENSP00000261495:A460T;ENSP00000378980:A232T;ENSP00000320543:A517T;ENSP00000378982:A460T	ENSP00000320543:A517T	A	+	1	0	EPN2	19175896	1.000000	0.71417	0.899000	0.35326	0.216000	0.24613	9.358000	0.97109	2.290000	0.77057	0.462000	0.41574	GCG		0.627	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		4	134	4	134	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690215	33690215	+	Silent	SNP	G	G	T			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:33690215G>T	ENST00000394566.1	-	4	884	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.I204I(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413																																						ENST00000394566.1																			2	Substitution - coding silent(2)	p.I204I(2)	prostate(1)|lung(1)	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(610-612)atC>atA		schlafen family member 11							123.0	126.0	125.0					17																	33690215		2203	4300	6503	SO:0001819	synonymous_variant	91607					nucleus	ATP binding	g.chr17:33690215G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.612C>A	17.37:g.33690215G>T						SLFN11_ENST00000308377.4_Silent_p.I204I	p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	884	-		Ovarian(249;0.17)	204					E1P643|Q8N3S8|Q8N762|Q8TEE0	Silent	SNP	ENST00000394566.1	37	c.612C>A	CCDS11294.1																																																																																				0.413	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	171	7	171	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:56246150C>A	ENST00000361673.3	-	4	2071	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	620						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D620Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGACTGAGTCTGTTGAAGTT	0.473											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			1	Substitution - Missense(1)	p.D620Y(1)	prostate(1)	NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1858-1860)Gac>Tac		alpha-kinase 2							196.0	181.0	186.0					18																	56246150		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246150C>A	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1858G>T	18.37:g.56246150C>A	ENSP00000354991:p.Asp620Tyr		OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.D620Y	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	2071	-			620					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.1858G>T	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694981	0.48202	.	.	ENSG00000198796	ENST00000361673	T	0.53206	0.63	5.5	3.67	0.42095	.	1.773910	0.03310	N	0.190372	T	0.51770	0.1694	L	0.39898	1.24	0.09310	N	1	D	0.56521	0.976	P	0.49999	0.628	T	0.35325	-0.9793	10	0.72032	D	0.01	-2.062	8.5274	0.33313	0.1516:0.7703:0.0:0.0781	.	620	Q86TB3	ALPK2_HUMAN	Y	620	ENSP00000354991:D620Y	ENSP00000354991:D620Y	D	-	1	0	ALPK2	54397130	0.001000	0.12720	0.001000	0.08648	0.664000	0.39144	1.354000	0.34056	0.653000	0.30826	0.655000	0.94253	GAC		0.473	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		5	160	5	160	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53993763	53993763	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:53993763G>C	ENST00000396403.4	+	4	405	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D93H(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATTGATAAAGATATTCATAA	0.398																																						ENST00000396403.4																			1	Substitution - Missense(1)	p.D93H(1)	prostate(1)	large_intestine(1)	1						c.(277-279)Gat>Cat		zinc finger protein 813							90.0	96.0	94.0					19																	53993763		2196	4298	6494	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53993763G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.277G>C	19.37:g.53993763G>C	ENSP00000379684:p.Asp93His					ZNF813_ENST00000396421.4_Intron	p.D93H	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	405	+			93		D -> V (in dbSNP:rs12609217).				Missense_Mutation	SNP	ENST00000396403.4	37	c.277G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	3.477	-0.106616	0.06924	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.05717	4.02;3.4;5.1	0.467	-0.714	0.11219	.	.	.	.	.	T	0.13586	0.0329	M	0.64404	1.975	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.20009	-1.0288	9	0.29301	T	0.29	.	1.4425	0.02357	0.3159:0.0:0.3407:0.3434	.	93	Q6ZN06	ZN813_HUMAN	H	40;93;124	ENSP00000419821:D40H;ENSP00000379684:D93H;ENSP00000418289:D124H	ENSP00000379684:D93H	D	+	1	0	ZNF813	58685575	0.051000	0.20477	0.003000	0.11579	0.139000	0.21198	0.707000	0.25704	-0.397000	0.07691	0.205000	0.17691	GAT		0.398	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		11	145	11	145	---	---	---	---
KCNG1	3755	broad.mit.edu	37	20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr20:49620863C>A	ENST00000371571.4	-	3	1540	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	419					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.V419F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATGGTGATGACAGCCCACCAG	0.647																																						ENST00000371571.4																			1	Substitution - Missense(1)	p.V419F(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1255-1257)Gtc>Ttc		potassium voltage-gated channel, subfamily G, member 1							79.0	69.0	72.0					20																	49620863		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620863C>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1255G>T	20.37:g.49620863C>A	ENSP00000360626:p.Val419Phe					RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'UTR	p.V419F	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1540	-			419					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1255G>T	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035602	0.75617	.	.	ENSG00000026559	ENST00000371571	D	0.97186	-4.28	5.49	5.49	0.81192	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97967	0.9331	L	0.58583	1.82	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97859	1.0279	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	419	Q9UIX4	KCNG1_HUMAN	F	419	ENSP00000360626:V419F	.	V	-	1	0	KCNG1	49054270	1.000000	0.71417	0.963000	0.40424	0.845000	0.48019	4.920000	0.63390	2.578000	0.87016	0.462000	0.41574	GTC		0.647	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		5	81	5	81	---	---	---	---
DKC1	1736	broad.mit.edu	37	X	153994551	153994551	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:153994551G>C	ENST00000369550.5	+	5	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C	SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	108					cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)	p.W108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTAGCCTGGATTCGACGGA	0.478									Congenital Dyskeratosis																													ENST00000369550.5																			2	Substitution - Missense(2)	p.W108C(2)	prostate(2)	breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15						c.(322-324)tgG>tgC		dyskeratosis congenita 1, dyskerin							111.0	104.0	106.0					X																	153994551		2203	4300	6503	SO:0001583	missense	1736	Congenital Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	g.chrX:153994551G>C	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.324G>C	X.37:g.153994551G>C	ENSP00000358563:p.Trp108Cys						p.W108C	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN			5	534	+	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		108					F5BSB3|O43845|Q96G67|Q9Y505	Missense_Mutation	SNP	ENST00000369550.5	37	c.324G>C	CCDS14761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.53|19.53	3.844944|3.844944	0.71603|0.71603	.|.	.|.	ENSG00000130826|ENSG00000130826	ENST00000437719|ENST00000369550;ENST00000413910	.|D;D	.|0.88818	.|-2.43;-2.43	5.81|5.81	4.93|4.93	0.64822|0.64822	.|Pseudouridine synthase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96402|0.96402	0.8826|0.8826	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.977;0.994	D|D	0.97225|0.97225	0.9880|0.9880	5|10	.|0.87932	.|D	.|0	-14.4226|-14.4226	13.9035|13.9035	0.63819|0.63819	0.0:0.0:0.8465:0.1535|0.0:0.0:0.8465:0.1535	.|.	.|108;108	.|A8MUT5;O60832	.|.;DKC1_HUMAN	H|C	94|108	.|ENSP00000358563:W108C;ENSP00000400542:W108C	.|ENSP00000358563:W108C	D|W	+|+	1|3	0|0	DKC1|DKC1	153647745|153647745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.309000|9.309000	0.96252|0.96252	1.184000|1.184000	0.42957|0.42957	0.513000|0.513000	0.50165|0.50165	GAT|TGG		0.478	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5	NM_001363		5	59	5	59	---	---	---	---
