#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
GLDN	342035	broad.mit.edu	37	15	51696486	51696486	+	Silent	SNP	C	C	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr15:51696486C>T	ENST00000335449.6	+	10	1247	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GLDN_ENST00000396399.2_Silent_p.G273G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	397	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTGAATTTGGCCAGGAAACAT	0.358																																						ENST00000335449.6																			0				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(1189-1191)ggC>ggT		gliomedin							132.0	141.0	138.0					15																	51696486		2196	4293	6489	SO:0001819	synonymous_variant	342035				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		g.chr15:51696486C>T	AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1191C>T	15.37:g.51696486C>T						GLDN_ENST00000396399.2_Silent_p.G273G	p.G397G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN		all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)	10	1247	+			397			Olfactomedin-like.		Q6UXZ7|Q7Z359	Silent	SNP	ENST00000335449.6	37	c.1191C>T	CCDS10140.2																																																																																				0.358	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789		4	128	0	0	0	1	0	4	128				
ZDHHC17	23390	broad.mit.edu	37	12	77202835	77202835	+	Silent	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:77202835G>A	ENST00000426126.2	+	4	982	c.333G>A	c.(331-333)tcG>tcA	p.S111S	ZDHHC17_ENST00000359019.4_Silent_p.S61S|ZDHHC17_ENST00000334822.5_Silent_p.S111S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	111					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACTATATTTCGAAAGGTGCTA	0.289																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(331-333)tcG>tcA		zinc finger, DHHC-type containing 17							57.0	53.0	54.0					12																	77202835		1783	4057	5840	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77202835G>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.333G>A	12.37:g.77202835G>A						ZDHHC17_ENST00000334822.5_Silent_p.S111S|ZDHHC17_ENST00000359019.4_Silent_p.S61S	p.S111S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			4	982	+			111					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.333G>A	CCDS44946.1																																																																																				0.289	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		3	30	0	0	0	1	0	3	30				
FAM179A	165186	broad.mit.edu	37	2	29268261	29268261	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:29268261A>T	ENST00000379558.4	+	19	3058	c.2707A>T	c.(2707-2709)Aca>Tca	p.T903S	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	903										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTGGATGTCACAGATCGCCT	0.587																																						ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2707-2709)Aca>Tca		family with sequence similarity 179, member A							86.0	84.0	85.0					2																	29268261		2203	4300	6503	SO:0001583	missense	165186						binding	g.chr2:29268261A>T	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2707A>T	2.37:g.29268261A>T	ENSP00000368876:p.Thr903Ser					FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S	p.T903S	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			19	3058	+			903					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.2707A>T	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359336	0.61403	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.67865	-0.29;-0.29	5.33	5.33	0.75918	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.77458	0.4133	L	0.60455	1.87	0.32295	N	0.565774	D;D;D	0.65815	0.986;0.976;0.995	P;P;D	0.67900	0.783;0.787;0.954	T	0.80759	-0.1239	10	0.40728	T	0.16	.	15.1247	0.72472	1.0:0.0:0.0:0.0	.	848;903;201	F8W8E4;Q6ZUX3;Q6ZUX3-3	.;F179A_HUMAN;.	S	903;848	ENSP00000368876:T903S;ENSP00000384699:T848S	ENSP00000368876:T903S	T	+	1	0	FAM179A	29121765	0.998000	0.40836	0.942000	0.38095	0.310000	0.27922	2.663000	0.46774	2.237000	0.73441	0.459000	0.35465	ACA		0.587	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		11	80	0	0	0	1	0	11	80				
UTP20	27340	broad.mit.edu	37	12	101720875	101720875	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:101720875A>G	ENST00000261637.4	+	26	3232	c.3058A>G	c.(3058-3060)Atg>Gtg	p.M1020V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1020					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTATGGGCGAATGAAGAATAA	0.433																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3058-3060)Atg>Gtg		UTP20, small subunit (SSU) processome component, homolog (yeast)							75.0	78.0	77.0					12																	101720875		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101720875A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3058A>G	12.37:g.101720875A>G	ENSP00000261637:p.Met1020Val						p.M1020V	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			26	3232	+			1020					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.3058A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	14.05	2.420541	0.42918	.	.	ENSG00000120800	ENST00000261637	T	0.21191	2.02	5.02	5.02	0.67125	Down-regulated-in-metastasis protein (1);Armadillo-type fold (1);	0.084250	0.85682	D	0.000000	T	0.37265	0.0997	M	0.72576	2.205	0.53005	D	0.99996	D	0.58970	0.984	P	0.55615	0.78	T	0.13229	-1.0517	10	0.21540	T	0.41	-27.6309	15.0417	0.71796	1.0:0.0:0.0:0.0	.	1020	O75691	UTP20_HUMAN	V	1020	ENSP00000261637:M1020V	ENSP00000261637:M1020V	M	+	1	0	UTP20	100245006	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	6.587000	0.74071	2.015000	0.59207	0.254000	0.18369	ATG		0.433	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		30	49	0	0	0	1	0	30	49				
HEATR6	63897	broad.mit.edu	37	17	58134531	58134531	+	Missense_Mutation	SNP	G	G	A	rs117309766		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:58134531G>A	ENST00000184956.6	-	12	1973	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	653							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGTCGAATGAGCCAGCAGGGC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		21151	0.001		0.0	False		,,,				2504	0.0					ENST00000184956.6																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1957-1959)Ctc>Ttc		HEAT repeat containing 6							127.0	119.0	122.0					17																	58134531		2203	4300	6503	SO:0001583	missense	63897						binding	g.chr17:58134531G>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1957C>T	17.37:g.58134531G>A	ENSP00000184956:p.Leu653Phe					HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	p.L653F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		12	1973	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		653					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1957C>T	CCDS11623.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.9	4.349513	0.82132	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.48522	0.81	5.3	5.3	0.74995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69869	0.3159	M	0.76328	2.33	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.982;0.997	T	0.70916	-0.4742	10	0.52906	T	0.07	-12.5889	18.3924	0.90487	0.0:0.0:1.0:0.0	.	500;653	E7ESB9;Q6AI08	.;HEAT6_HUMAN	F	653;500	ENSP00000184956:L653F	ENSP00000184956:L653F	L	-	1	0	HEATR6	55489313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.728000	0.74769	2.666000	0.90696	0.558000	0.71614	CTC		0.557	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		7	110	0	0	0	1	0	7	110				
KERA	11081	broad.mit.edu	37	12	91449954	91449954	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:91449954C>A	ENST00000266719.3	-	2	352	c.105G>T	c.(103-105)tgG>tgT	p.W35C		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	35	LRRNT.				carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CATGAATAGTCCAATCATCTG	0.413																																						ENST00000266719.3																			0				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						c.(103-105)tgG>tgT		keratocan							103.0	82.0	89.0					12																	91449954		2203	4300	6503	SO:0001583	missense	11081				response to stimulus|visual perception	proteinaceous extracellular matrix		g.chr12:91449954C>A	AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.105G>T	12.37:g.91449954C>A	ENSP00000266719:p.Trp35Cys						p.W35C	NM_007035.3	NP_008966.1	O60938	KERA_HUMAN			2	352	-			35			LRRNT.			Missense_Mutation	SNP	ENST00000266719.3	37	c.105G>T	CCDS9037.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168085	0.06461	.	.	ENSG00000139330	ENST00000266719	T	0.17054	2.3	5.93	4.04	0.47022	.	0.693406	0.15862	N	0.240985	T	0.15696	0.0378	L	0.44542	1.39	0.21386	N	0.999701	P	0.47106	0.89	B	0.39971	0.315	T	0.05852	-1.0860	10	0.39692	T	0.17	0.0341	11.4563	0.50183	0.1273:0.5669:0.3058:0.0	.	35	O60938	KERA_HUMAN	C	35	ENSP00000266719:W35C	ENSP00000266719:W35C	W	-	3	0	KERA	89974085	0.384000	0.25164	0.001000	0.08648	0.022000	0.10575	1.227000	0.32576	0.745000	0.32763	0.650000	0.86243	TGG		0.413	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		10	48	1	0	1.76689e-08	1	1.86786e-08	10	48				
FAM83G	644815	broad.mit.edu	37	17	18874966	18874966	+	Silent	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:18874966G>A	ENST00000388995.6	-	6	2401	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	FAM83G_ENST00000585154.2_Silent_p.S726S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.S726S|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	726					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGCTCTGGACGCTGTCAGCAG	0.647																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2176-2178)agC>agT		family with sequence similarity 83, member G							44.0	51.0	49.0					17																	18874966		1957	4130	6087	SO:0001819	synonymous_variant	644815							g.chr17:18874966G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2178C>T	17.37:g.18874966G>A						SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S726S|FAM83G_ENST00000345041.4_Silent_p.S726S|SLC5A10_ENST00000395645.3_Intron	p.S726S			A6ND36	FA83G_HUMAN			6	2401	-			726					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.2178C>T	CCDS42276.1																																																																																				0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			4	63	0	0	0	1	0	4	63				
KMT2D	8085	broad.mit.edu	37	12	49434307	49434307	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:49434307G>A	ENST00000301067.7	-	31	7245	c.7246C>T	c.(7246-7248)Cag>Tag	p.Q2416*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2416	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACTGGGACTGAGGACTGGCA	0.647																																						ENST00000301067.7																			0											c.(7246-7248)Cag>Tag		lysine (K)-specific methyltransferase 2D							25.0	30.0	29.0					12																	49434307		2112	4225	6337	SO:0001587	stop_gained	8085							g.chr12:49434307G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.7246C>T	12.37:g.49434307G>A	ENSP00000301067:p.Gln2416*						p.Q2416*	NM_003482.3	NP_003473.3					31	7245	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.7246C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	47	13.807490	0.99764	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.21	5.21	0.72293	.	0.000000	0.35466	N	0.003185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9117	0.88936	0.0:0.0:1.0:0.0	.	.	.	.	X	2416	.	ENSP00000301067:Q2416X	Q	-	1	0	MLL2	47720574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.387000	0.73191	2.596000	0.87737	0.591000	0.81541	CAG		0.647	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	31	0	0	0	1	0	4	31				
UHRF1BP1	54887	broad.mit.edu	37	6	34824168	34824168	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:34824168C>T	ENST00000192788.5	+	10	1444	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	425							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGTAGACTCTCTCTTTCGGAG	0.478																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(1273-1275)Ctc>Ttc		UHRF1 binding protein 1							107.0	110.0	109.0					6																	34824168		1903	4127	6030	SO:0001583	missense	54887							g.chr6:34824168C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.1273C>T	6.37:g.34824168C>T	ENSP00000192788:p.Leu425Phe					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	p.L425F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			10	1444	+			425					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.1273C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327774	0.24080	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08282	3.11;3.11	5.88	1.09	0.20402	.	0.343905	0.31381	N	0.007758	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48547	-0.9026	10	0.20046	T	0.44	-3.5845	9.4711	0.38842	0.0:0.661:0.0:0.339	.	425	Q6BDS2	URFB1_HUMAN	F	425	ENSP00000192788:L425F;ENSP00000400628:L425F	ENSP00000192788:L425F	L	+	1	0	UHRF1BP1	34932146	0.009000	0.17119	0.511000	0.27724	0.335000	0.28730	0.639000	0.24690	0.409000	0.25649	0.591000	0.81541	CTC		0.478	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		17	87	0	0	0	1	0	17	87				
SIK3	23387	broad.mit.edu	37	11	116729350	116729350	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr11:116729350G>A	ENST00000292055.4	-	20	2548	c.2513C>T	c.(2512-2514)tCg>tTg	p.S838L	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000375288.1_Intron|SIK3_ENST00000375300.1_Missense_Mutation_p.S896L|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	838	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGACTGGTCCGAAAACAGATG	0.557																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2686-2688)tCg>tTg		SIK family kinase 3							74.0	78.0	76.0					11																	116729350		2201	4296	6497	SO:0001583	missense	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729350G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2513C>T	11.37:g.116729350G>A	ENSP00000292055:p.Ser838Leu					SIK3_ENST00000488337.1_Intron|SIK3_ENST00000542607.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.S838L|SIK3_ENST00000375288.1_Intron	p.S896L			Q9Y2K2	SIK3_HUMAN			20	2692	-			838			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Missense_Mutation	SNP	ENST00000292055.4	37	c.2687C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373041	0.61624	.	.	ENSG00000160584	ENST00000375300;ENST00000292055	T;T	0.73789	-0.75;-0.78	5.67	4.72	0.59763	.	0.439086	0.16781	N	0.199764	T	0.57475	0.2056	N	0.24115	0.695	0.80722	D	1	P;P	0.49635	0.926;0.878	B;B	0.33960	0.173;0.084	T	0.61178	-0.7115	10	0.51188	T	0.08	.	13.6458	0.62281	0.0787:0.0:0.9213:0.0	.	838;838	Q9Y2K2-3;Q9Y2K2	.;SIK3_HUMAN	L	896;838	ENSP00000364449:S896L;ENSP00000292055:S838L	ENSP00000292055:S838L	S	-	2	0	SIK3	116234560	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.581000	0.74045	1.289000	0.44618	-0.345000	0.07892	TCG		0.557	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		4	106	0	0	0	1	0	4	106				
VTA1	51534	broad.mit.edu	37	6	142490757	142490757	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:142490757A>T	ENST00000367630.4	+	3	336	c.278A>T	c.(277-279)tAt>tTt	p.Y93F	VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	93	Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTGGAGAATTATGCTTTGAAA	0.303																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(277-279)tAt>tTt		vesicle (multivesicular body) trafficking 1							81.0	86.0	84.0					6																	142490757		2202	4300	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142490757A>T	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.278A>T	6.37:g.142490757A>T	ENSP00000356602:p.Tyr93Phe					VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	p.Y93F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	3	336	+	Breast(32;0.155)		93			Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.278A>T	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405416	0.83230	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	T;T;T	0.22945	1.93;1.93;1.93	4.74	4.74	0.60224	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.06690	0.0171	N	0.11364	0.135	0.80722	D	1	B;P	0.40660	0.246;0.726	P;B	0.44447	0.45;0.398	T	0.04216	-1.0968	10	0.02654	T	1	-13.985	14.5608	0.68133	1.0:0.0:0.0:0.0	.	35;93	E7ETQ7;Q9NP79	.;VTA1_HUMAN	F	93;35;35;94	ENSP00000356602:Y93F;ENSP00000356593:Y35F;ENSP00000395767:Y35F	ENSP00000356593:Y35F	Y	+	2	0	VTA1	142532450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.727000	0.91480	1.891000	0.54761	0.533000	0.62120	TAT		0.303	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		3	29	0	0	0	1	0	3	29				
G3BP2	9908	broad.mit.edu	37	4	76571629	76571629	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:76571629C>T	ENST00000359707.4	-	11	1854	c.1069G>A	c.(1069-1071)Gtt>Att	p.V357I	G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I|G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	357	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTTCCACAACGTTTCCAAAA	0.358																																						ENST00000359707.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						c.(1069-1071)Gtt>Att		GTPase activating protein (SH3 domain) binding protein 2							128.0	139.0	136.0					4																	76571629		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76571629C>T	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.1069G>A	4.37:g.76571629C>T	ENSP00000352738:p.Val357Ile					G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I|G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I	p.V357I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		11	1854	-			357			RRM.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.1069G>A	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846414	0.91277	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854	T;T;T	0.74106	-0.81;-0.81;-0.81	6.17	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.052570	0.85682	N	0.000000	T	0.64821	0.2633	N	0.20807	0.61	0.58432	D	0.999999	B;P	0.50369	0.043;0.934	B;P	0.49332	0.008;0.607	T	0.63910	-0.6530	10	0.02654	T	1	.	15.699	0.77528	0.0:0.9348:0.0:0.0652	.	324;357	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	I	357;357;324	ENSP00000379069:V357I;ENSP00000352738:V357I;ENSP00000350518:V324I	ENSP00000350518:V324I	V	-	1	0	G3BP2	76790653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.477000	0.81069	1.630000	0.50440	0.655000	0.94253	GTT		0.358	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		7	191	0	0	0	1	0	7	191				
FILIP1L	11259	broad.mit.edu	37	3	99649664	99649664	+	Silent	SNP	G	G	C			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99649664G>C	ENST00000354552.3	-	2	671	c.201C>G	c.(199-201)ctC>ctG	p.L67L	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000398326.2_Silent_p.L67L|FILIP1L_ENST00000331335.5_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	67						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CATCTCTTGAGAGGTCTTCTG	0.512																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(199-201)ctC>ctG		filamin A interacting protein 1-like							148.0	138.0	142.0					3																	99649664		1933	4137	6070	SO:0001819	synonymous_variant	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99649664G>C		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.201C>G	3.37:g.99649664G>C						FILIP1L_ENST00000398326.2_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|CMSS1_ENST00000421999.2_Intron	p.L67L	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			2	671	-			67					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Silent	SNP	ENST00000354552.3	37	c.201C>G	CCDS43117.1																																																																																				0.512	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		3	20	0	0	0	1	0	3	20				
SCYL3	57147	broad.mit.edu	37	1	169839411	169839411	+	Missense_Mutation	SNP	T	T	G	rs571139149		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:169839411T>G	ENST00000367770.1	-	5	657	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367772.4_Missense_Mutation_p.I204L|SCYL3_ENST00000367771.6_Missense_Mutation_p.I204L			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATTTAAGATTGTGAGCAAA	0.408																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(610-612)Atc>Ctc		SCY1-like 3 (S. cerevisiae)							113.0	111.0	111.0					1																	169839411		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169839411T>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.610A>C	1.37:g.169839411T>G	ENSP00000356744:p.Ile204Leu					SCYL3_ENST00000367771.5_Missense_Mutation_p.I204L|SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR	p.I204L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			6	807	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		204			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.610A>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	T	8.164	0.790090	0.16258	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.27	-6.66	0.01789	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.084680	0.06877	N	0.801811	T	0.15132	0.0365	N	0.02539	-0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.11329	0.006;0.005	T	0.14755	-1.0461	10	0.11485	T	0.65	-0.3981	8.9292	0.35659	0.097:0.5707:0.0991:0.2333	.	204;204	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	L	204	ENSP00000356746:I204L;ENSP00000356745:I204L;ENSP00000356744:I204L;ENSP00000407993:I204L	ENSP00000356744:I204L	I	-	1	0	SCYL3	168106035	0.000000	0.05858	0.001000	0.08648	0.996000	0.88848	-0.423000	0.07034	-1.450000	0.01936	0.455000	0.32223	ATC		0.408	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093		9	63	0	0	0	1	0	9	63				
LETM1	3954	broad.mit.edu	37	4	1834579	1834579	+	Silent	SNP	C	C	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:1834579C>T	ENST00000302787.2	-	6	1268	c.972G>A	c.(970-972)ccG>ccA	p.P324P		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	324	LETM1.				cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCACCAGCTGCGGCCGTGTCA	0.567																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(970-972)ccG>ccA		leucine zipper-EF-hand containing transmembrane protein 1							94.0	87.0	89.0					4																	1834579		2203	4300	6503	SO:0001819	synonymous_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1834579C>T	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.972G>A	4.37:g.1834579C>T							p.P324P	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		6	1268	-			324			LETM1.		B4DED2|Q9UF65	Silent	SNP	ENST00000302787.2	37	c.972G>A	CCDS3355.1																																																																																				0.567	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			4	92	0	0	0	1	0	4	92				
HIST1H2BF	8343	broad.mit.edu	37	6	26199817	26199817	+	Missense_Mutation	SNP	C	C	T	rs80084141		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:26199817C>T	ENST00000359985.1	+	1	70	c.31C>T	c.(31-33)Cca>Tca	p.P11S	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	11					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CGCTCCTGCTCCAAAAAAGGG	0.483																																						ENST00000359985.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17						c.(31-33)Cca>Tca		histone cluster 1, H2bf							98.0	96.0	97.0					6																	26199817		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199817C>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.31C>T	6.37:g.26199817C>T	ENSP00000353074:p.Pro11Ser						p.P11S	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN			1	70	+		all_hematologic(11;0.196)	11					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.31C>T	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.298315	0.40694	.	.	ENSG00000197846	ENST00000359985	T	0.22336	1.96	4.71	3.82	0.43975	.	0.000000	0.40908	D	0.000990	T	0.19967	0.0480	.	.	.	0.34745	D	0.731158	.	.	.	.	.	.	T	0.01390	-1.1367	7	0.40728	T	0.16	.	12.839	0.57790	0.0:0.9149:0.0:0.0851	.	.	.	.	S	11	ENSP00000353074:P11S	ENSP00000353074:P11S	P	+	1	0	HIST1H2BF	26307796	0.859000	0.29813	0.649000	0.29536	0.108000	0.19459	2.227000	0.42972	2.318000	0.78349	0.650000	0.86243	CCA		0.483	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		9	89	0	0	0	1	0	9	89				
ERG	2078	broad.mit.edu	37	21	39755838	39755838	+	Silent	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr21:39755838G>A	ENST00000417133.2	-	12	1133	c.948C>T	c.(946-948)ggC>ggT	p.G316G	ERG_ENST00000398911.1_Silent_p.G292G|ERG_ENST00000453032.2_Silent_p.G217G|ERG_ENST00000398897.1_Silent_p.G193G|ERG_ENST00000398919.2_Silent_p.G316G|ERG_ENST00000398907.1_Silent_p.G286G|ERG_ENST00000398910.1_Silent_p.G293G|ERG_ENST00000288319.7_Silent_p.G309G|ERG_ENST00000398905.1_Silent_p.G285G|ERG_ENST00000442448.1_Silent_p.G292G	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCTGGATCTGGCCACTGCCTA	0.567			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	ENST00000442448.1				Dom	yes		21	21q22.3	2078	T	v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""		"""Ewing sarcoma, prostate, AML"""	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	0				lung(2)|ovary(1)|skin(1)	4						c.(874-876)ggC>ggT		v-ets avian erythroblastosis virus E26 oncogene homolog							41.0	41.0	41.0					21																	39755838		2203	4300	6503	SO:0001819	synonymous_variant	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755838G>A		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.948C>T	21.37:g.39755838G>A						ERG_ENST00000398911.1_Silent_p.G292G|ERG_ENST00000398910.1_Silent_p.G293G|ERG_ENST00000398907.1_Silent_p.G286G|ERG_ENST00000417133.2_Silent_p.G316G|ERG_ENST00000398897.1_Silent_p.G193G|ERG_ENST00000453032.2_Silent_p.G217G|ERG_ENST00000398905.1_Silent_p.G285G|ERG_ENST00000288319.7_Silent_p.G309G|ERG_ENST00000398919.2_Silent_p.G316G	p.G292G	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN			11	1147	-		Prostate(19;3.6e-06)	316					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	c.876C>T	CCDS46648.1																																																																																				0.567	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		4	46	0	0	0	1	0	4	46				
SESN2	83667	broad.mit.edu	37	1	28598206	28598206	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:28598206A>C	ENST00000253063.3	+	3	499	c.178A>C	c.(178-180)Agc>Cgc	p.S60R		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	60					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGCTGAGAGCCTCGAGCA	0.592																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(178-180)Agc>Cgc		sestrin 2							61.0	61.0	61.0					1																	28598206		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28598206A>C	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.178A>C	1.37:g.28598206A>C	ENSP00000253063:p.Ser60Arg						p.S60R	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	3	499	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	60					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.178A>C	CCDS321.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068657	0.36470	.	.	ENSG00000130766	ENST00000253063	T	0.23147	1.92	5.08	5.08	0.68730	.	0.260649	0.40640	N	0.001059	T	0.17066	0.0410	L	0.29908	0.895	0.32161	N	0.582942	B	0.09022	0.002	B	0.10450	0.005	T	0.08371	-1.0725	10	0.49607	T	0.09	-29.5143	5.6031	0.17365	0.7377:0.1742:0.088:0.0	.	60	P58004	SESN2_HUMAN	R	60	ENSP00000253063:S60R	ENSP00000253063:S60R	S	+	1	0	SESN2	28470793	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	2.312000	0.43726	2.049000	0.60858	0.533000	0.62120	AGC		0.592	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			5	61	0	0	0	1	0	5	61				
PGK2	5232	broad.mit.edu	37	6	49754653	49754653	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:49754653A>G	ENST00000304801.3	-	1	400	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	83					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGAGCTCAACAGCAACAGG	0.517																																						ENST00000304801.3																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47						c.(247-249)gTt>gCt		phosphoglycerate kinase 2							155.0	133.0	140.0					6																	49754653		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754653A>G	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.248T>C	6.37:g.49754653A>G	ENSP00000305995:p.Val83Ala						p.V83A	NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN			1	400	-	Lung NSC(77;0.0402)		83					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.248T>C	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.812322	0.00600	.	.	ENSG00000170950	ENST00000304801	D	0.91180	-2.8	4.09	-1.12	0.09808	Phosphoglycerate kinase, N-terminal (1);	0.533559	0.21703	N	0.070390	T	0.39064	0.1064	N	0.01197	-0.965	0.20563	N	0.999888	B	0.02656	0.0	B	0.04013	0.001	T	0.55617	-0.8113	10	0.05721	T	0.95	-0.9678	2.7725	0.05338	0.0872:0.2659:0.2403:0.4066	.	83	P07205	PGK2_HUMAN	A	83	ENSP00000305995:V83A	ENSP00000305995:V83A	V	-	2	0	PGK2	49862612	0.551000	0.26497	0.964000	0.40570	0.364000	0.29643	0.576000	0.23744	-0.225000	0.09913	-0.208000	0.12717	GTT		0.517	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			15	90	0	0	0	1	0	15	90				
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:3952899A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGCACCGGGCATACTTGACTG	0.557																																						ENST00000281228.8																			0																																																			0							g.chr4:3952899A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952899A>T						FAM86EP_ENST00000313946.8_RNA								0	208	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.557	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			6	56	0	0	0	1	0	6	56				
DPY19L2P2	349152	broad.mit.edu	37	7	102856991	102856991	+	RNA	SNP	C	C	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr7:102856991C>A	ENST00000312132.4	-	0	3091							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CTTGAATTAGCTAGAAAATAA	0.294																																						ENST00000312132.4																			0																																																			0							g.chr7:102856991C>A	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102856991C>A														0	3091	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.294	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		13	36	1	0	2.31682e-05	1	2.38118e-05	13	36				
FRS2	10818	broad.mit.edu	37	12	69968695	69968695	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:69968695C>G	ENST00000550389.1	+	7	1733	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	FRS2_ENST00000397997.2_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000299293.2_Missense_Mutation_p.S496C	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATGGTACATCTAGGAAAACT	0.443																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1486-1488)tCt>tGt		fibroblast growth factor receptor substrate 2							90.0	85.0	87.0					12																	69968695		1998	4181	6179	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968695C>G	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1487C>G	12.37:g.69968695C>G	ENSP00000447241:p.Ser496Cys					FRS2_ENST00000550389.1_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_Missense_Mutation_p.S496C	p.S496C	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1997	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		496					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1487C>G	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910118	0.72983	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.34072	1.38;1.38;1.38;1.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	L	0.44542	1.39	0.58432	D	0.999997	D	0.76494	0.999	D	0.74674	0.984	T	0.35674	-0.9779	9	.	.	.	-23.0753	20.8794	0.99867	0.0:1.0:0.0:0.0	.	496	Q8WU20	FRS2_HUMAN	C	496	ENSP00000299293:S496C;ENSP00000450048:S496C;ENSP00000447241:S496C;ENSP00000381083:S496C	.	S	+	2	0	FRS2	68254962	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.089000	0.71384	2.941000	0.99782	0.655000	0.94253	TCT		0.443	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		16	77	0	0	0	1	0	16	77				
WNT6	7475	broad.mit.edu	37	2	219735845	219735845	+	Silent	SNP	G	G	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:219735845G>A	ENST00000233948.3	+	2	394	c.177G>A	c.(175-177)ccG>ccA	p.P59P	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	59					axis specification (GO:0009798)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|epithelial-mesenchymal cell signaling (GO:0060684)|nephron tubule formation (GO:0072079)|neuron differentiation (GO:0030182)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of gene expression (GO:0010628)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription, DNA-templated (GO:0045893)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGAGCCGGAAGTGGTGG	0.687																																						ENST00000233948.3																			0				large_intestine(1)|ovary(2)|skin(1)	4						c.(175-177)ccG>ccA		wingless-type MMTV integration site family, member 6							49.0	61.0	57.0					2																	219735845		2203	4298	6501	SO:0001819	synonymous_variant	7475				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219735845G>A	AF079522	CCDS2425.1	2q35	2008-05-23			ENSG00000115596	ENSG00000115596		"""Wingless-type MMTV integration sites"""	12785	protein-coding gene	gene with protein product		604663				10343101, 11350055	Standard	NM_006522		Approved		uc002vjc.1	Q9Y6F9	OTTHUMG00000133082	ENST00000233948.3:c.177G>A	2.37:g.219735845G>A						WNT6_ENST00000486233.1_Intron	p.P59P	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	394	+		Renal(207;0.0474)	59					Q9H1J6|Q9H238	Silent	SNP	ENST00000233948.3	37	c.177G>A	CCDS2425.1																																																																																				0.687	WNT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256727.2	NM_006522		5	186	0	0	0	1	0	5	186				
GIGYF2	26058	broad.mit.edu	37	2	233655777	233655777	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:233655777A>T	ENST00000409547.1	+	13	1301	c.990A>T	c.(988-990)gaA>gaT	p.E330D	GIGYF2_ENST00000373566.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	330					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTGGACGAAGGGGAGGAGT	0.448																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1054-1056)gaA>gaT		GRB10 interacting GYF protein 2							64.0	67.0	66.0					2																	233655777		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233655777A>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.990A>T	2.37:g.233655777A>T	ENSP00000386537:p.Glu330Asp					GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D	p.E352D			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	12	1253	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	330					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1056A>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.981417	0.53827	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341;ENST00000427649;ENST00000410033	T;T;T;T;T;T;T;T;T;D;D	0.86164	-0.95;-0.91;-0.95;-0.91;-1.1;-0.92;-0.95;-1.05;-0.94;-2.08;-2.03	5.24	-0.792	0.10925	.	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	L	0.39245	1.2	0.41463	D	0.988059	P;P;D;P	0.63880	0.885;0.714;0.993;0.671	P;B;D;B	0.70016	0.733;0.376;0.967;0.28	T	0.82676	-0.0339	10	0.27082	T	0.32	-18.7064	10.9943	0.47567	0.7126:0.0:0.2874:0.0	.	161;352;330;324	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	D	352;273;330;352;330;330;273;324;352;324;161;82;112	ENSP00000362667:E352D;ENSP00000362664:E330D;ENSP00000386765:E352D;ENSP00000386537:E330D;ENSP00000404195:E273D;ENSP00000387070:E324D;ENSP00000387170:E352D;ENSP00000410297:E324D;ENSP00000411505:E161D;ENSP00000398055:E82D;ENSP00000387276:E112D	ENSP00000362664:E330D	E	+	3	2	GIGYF2	233364021	0.999000	0.42202	0.999000	0.59377	0.992000	0.81027	1.350000	0.34010	-0.024000	0.13941	0.459000	0.35465	GAA		0.448	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		3	43	0	0	0	1	0	3	43				
FILIP1L	11259	broad.mit.edu	37	3	99569210	99569210	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99569210C>G	ENST00000354552.3	-	5	1780	c.1310G>C	c.(1309-1311)aGc>aCc	p.S437T	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.S437T|FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|CMSS1_ENST00000496116.1_Intron	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	437						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCTTGTTTGCTTTTGTTGAA	0.353																																						ENST00000331335.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(1309-1311)aGc>aCc		filamin A interacting protein 1-like							111.0	105.0	106.0					3																	99569210		1832	4076	5908	SO:0001583	missense	11259					cytoplasm|membrane|myosin complex|nucleus		g.chr3:99569210C>G		CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.1310G>C	3.37:g.99569210C>G	ENSP00000346560:p.Ser437Thr					FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|CMSS1_ENST00000421999.2_Intron	p.S437T	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN			5	1780	-			437					B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	ENST00000354552.3	37	c.1310G>C	CCDS43117.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662111	0.67700	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.46063	0.88;1.06;1.41;0.88;1.41;1.43	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.67961	0.2949	M	0.80982	2.52	0.47862	D	0.999533	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.67577	-0.5635	10	0.41790	T	0.15	-11.2569	19.4884	0.95039	0.0:1.0:0.0:0.0	.	437;437	Q4L180-2;Q4L180	.;FIL1L_HUMAN	T	437;13;197;437;197;183;197	ENSP00000346560:S437T;ENSP00000417774:S13T;ENSP00000419642:S197T;ENSP00000327880:S437T;ENSP00000373192:S197T;ENSP00000419874:S197T	ENSP00000327880:S437T	S	-	2	0	FILIP1L	101051900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.972000	0.63756	2.598000	0.87819	0.655000	0.94253	AGC		0.353	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353069.1	NM_014890		5	53	0	0	0	1	0	5	53				
FAM86EP	348926	broad.mit.edu	37	4	3952901	3952901	+	RNA	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:3952901A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CACCGGGCATACTTGACTGAC	0.552																																						ENST00000281228.8																			0																																																			0							g.chr4:3952901A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952901A>T						FAM86EP_ENST00000313946.8_RNA								0	206	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.552	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			6	55	0	0	0	1	0	6	55				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000424775.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000433992.1																			0				endometrium(1)	1																																														0							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA								0	475	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	31	0	0	0	1	0	3	31				
KCNT1	57582	broad.mit.edu	37	9	138657479	138657479	+	Missense_Mutation	SNP	G	G	A	rs368174673		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr9:138657479G>A	ENST00000263604.3	+	13	1153	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	KCNT1_ENST00000298480.5_Missense_Mutation_p.V404M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	385					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACTATTACGTGGTCATCCT	0.662																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1210-1212)Gtg>Atg		potassium channel, subfamily T, member 1		G	MET/VAL	0,4396		0,0,2198	43.0	42.0	42.0		1210	3.7	1.0	9		42	1,8595	1.2+/-3.3	0,1,4297	no	missense	KCNT1	NM_020822.2	21	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	404/1236	138657479	1,12991	2198	4298	6496	SO:0001583	missense	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138657479G>A	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1153G>A	9.37:g.138657479G>A	ENSP00000263604:p.Val385Met					KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M	p.V404M			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	13	1284	+		Myeloproliferative disorder(178;0.0821)	404					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37	c.1210G>A		.	.	.	.	.	.	.	.	.	.	G	22.8	4.343335	0.82022	0.0	1.16E-4	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.34072	1.4;1.4;1.4;1.38	4.61	3.7	0.42460	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	T	0.59514	0.2199	M	0.83012	2.62	0.58432	D	0.999997	P;D;D;P	0.76494	0.945;0.999;0.981;0.945	B;D;P;P	0.64042	0.368;0.921;0.703;0.449	T	0.66252	-0.5970	10	0.87932	D	0	-6.4241	13.2288	0.59929	0.0:0.0:0.8403:0.1596	.	371;404;359;385	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	359;404;404;365;371;385;385;385	ENSP00000417851:V359M;ENSP00000298480:V404M;ENSP00000360822:V404M;ENSP00000263604:V385M	ENSP00000263604:V385M	V	+	1	0	KCNT1	137797300	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.418000	0.73341	0.913000	0.36797	0.313000	0.20887	GTG		0.662	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		7	20	0	0	0	1	0	7	20				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	40	0	0	0	1	0	4	40				
CROCCP2	84809	broad.mit.edu	37	1	16953130	16953131	+	lincRNA	INS	-	-	A			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:16953130_16953131insA	ENST00000412962.1	-	0	622							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGTGAGATGGAAAAAAAAATC	0.545																																						ENST00000412962.1																			0																																																			0							g.chr1:16953130_16953131insA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16953139_16953139dupA														0	622	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.545	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	4						3	4	---	---	---	---
ELOVL1	64834	broad.mit.edu	37	1	43830879	43830879	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:43830879A>T	ENST00000372458.3	-	3	332	c.215T>A	c.(214-216)cTc>cAc	p.L72H	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	72					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	fatty acid elongase activity (GO:0009922)			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAGAGGGAGAGTGCCACCAG	0.532																																						ENST00000372458.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(214-216)cTc>cAc		ELOVL fatty acid elongase 1							65.0	61.0	62.0					1																	43830879		2203	4300	6503	SO:0001583	missense	64834				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding	g.chr1:43830879A>T	AK001653	CCDS485.1, CCDS57987.1	1p34	2011-05-25	2011-05-25		ENSG00000066322	ENSG00000066322			14418	protein-coding gene	gene with protein product		611813	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1"""				Standard	NM_022821		Approved	Ssc1	uc031pmf.1	Q9BW60	OTTHUMG00000007422	ENST00000372458.3:c.215T>A	1.37:g.43830879A>T	ENSP00000361536:p.Leu72His					ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H	p.L72H	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN			3	332	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	72					B4DP24|Q53HT2|Q5JUY3|Q8WXU3|Q9NVD9|Q9Y396	Missense_Mutation	SNP	ENST00000372458.3	37	c.215T>A	CCDS485.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053918	0.75960	.	.	ENSG00000066322	ENST00000372458;ENST00000413844	T;T	0.26660	1.72;1.72	5.95	5.95	0.96441	.	0.297473	0.37857	N	0.001911	T	0.66086	0.2754	H	0.96970	3.915	0.53005	D	0.999965	D;D	0.76494	0.999;0.993	D;D	0.72982	0.979;0.954	T	0.78788	-0.2067	10	0.87932	D	0	-8.2108	16.4159	0.83738	1.0:0.0:0.0:0.0	.	72;72	B4DP24;Q9BW60	.;ELOV1_HUMAN	H	72	ENSP00000361536:L72H;ENSP00000416024:L72H	ENSP00000361536:L72H	L	-	2	0	ELOVL1	43603466	1.000000	0.71417	0.983000	0.44433	0.926000	0.56050	8.962000	0.93254	2.279000	0.76181	0.533000	0.62120	CTC		0.532	ELOVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019496.1	NM_022821		12	24	0	0	0	1	0	12	24				
MED15P9	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	A	-			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:130893081delA	ENST00000427638.1	+	0	542					NR_033903.1				mediator complex subunit 15 pseudogene 9																		actccatctcaaaaaaaaaaa	0.562																																						ENST00000427638.1																			0																																																			0							g.chr2:130893081delA	BC036597		2q21.1	2014-05-06	2013-08-13	2013-08-13	ENSG00000223760	ENSG00000223760			44130	pseudogene	pseudogene			"""CCDC74B antisense RNA 1 (non-protein coding)"", ""CCDC74B antisense RNA 1"""	CCDC74B-AS1			Standard	NR_033903		Approved		uc021voa.1				2.37:g.130893081delA								NR_033903.1						0	542	+									RNA	DEL	ENST00000427638.1	37																																																																																						0.562	MED15P9-002	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000470767.1	NR_033903		3	4						3	4	---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73830210	73830210	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:73830210delT	ENST00000370398.1	+	8	1239	c.1130delT	c.(1129-1131)gttfs	p.V377fs	KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000342056.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	377					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	ATGCAGTGTGTTTGGCGTAGT	0.413																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1129-1131)gtfs		potassium voltage-gated channel, KQT-like subfamily, member 5							80.0	65.0	70.0					6																	73830210		2203	4300	6503	SO:0001589	frameshift_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73830210delT	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1130delT	6.37:g.73830210delT	ENSP00000359425:p.Val377fs					KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs	p.V377fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	8	1528	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	377					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Frame_Shift_Del	DEL	ENST00000370398.1	37	c.1130delT	CCDS4976.1																																																																																				0.413	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		8	26						8	26	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45693538	45693538	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr14:45693538delA	ENST00000310806.4	-	11	2710	c.2252delT	c.(2251-2253)ttgfs	p.L751fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	751					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TATTTTCTTCAATTTTGGTAA	0.323																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2251-2253)tgfs		MIS18 binding protein 1							83.0	86.0	85.0					14																	45693538		2203	4300	6503	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693538delA	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2252delT	14.37:g.45693538delA	ENSP00000309790:p.Leu751fs						p.L751fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2710	-			751					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.2252delT	CCDS9684.1																																																																																				0.323	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			22	48						22	48	---	---	---	---
ICE2	79664	broad.mit.edu	37	15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-	rs181931922	byFrequency	TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)ttcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338																																						ENST00000561114.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(1144-1146)tcfs		NMDA receptor regulated 2							50.0	51.0	51.0					15																	60745782		2203	4297	6500	SO:0001589	frameshift_variant	79664					nucleus		g.chr15:60745782delA																												ENST00000561114.1:c.1145delT	15.37:g.60745782delA	ENSP00000454162:p.Phe382fs					NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	p.F382fs	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN			9	1307	-			0						Frame_Shift_Del	DEL	ENST00000561114.1	37	c.1145delT																																																																																					0.338	NARG2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000416605.1			8	26						8	26	---	---	---	---
RP11-178C3.1	0	broad.mit.edu	37	17	58050841	58050841	+	IGR	DEL	T	T	-	rs74362551|rs397743979|rs35409789		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:58050841delT	ENST00000591035.1	+	0	481				RP11-178C3.2_ENST00000586209.1_lincRNA																							acagggtttcTTTTTTTTTTT	0.413																																						ENST00000586209.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:58050841delT																													17.37:g.58050841delT														0	158	+									RNA	DEL	ENST00000591035.1	37																																																																																						0.413	RP11-178C3.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000449157.1			3	4						3	4	---	---	---	---
