#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
ZNF461	92283	broad.mit.edu	37	19	37129608	37129608	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37129608C>T	ENST00000588268.1	-	6	1866	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ZNF461_ENST00000360357.4_Missense_Mutation_p.E524K|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	547					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACTGGCTTCTCGCCAGTATGA	0.383																																						uc002oem.3																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(1639-1641)Gag>Aag		Homo sapiens zinc finger protein 461 (ZNF461), mRNA.							50.0	52.0	52.0					19																	37129608		1968	4174	6142	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129608C>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1639G>A	19.37:g.37129608C>T	ENSP00000467931:p.Glu547Lys					ZNF461_uc002oen.3_Missense_Mutation_p.E516K|ZNF461_uc010xtj.2_Missense_Mutation_p.E524K	p.E547K	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	1867	-	Esophageal squamous(110;0.198)		547					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.1639G>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853518	0.51270	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.19806	2.12	3.17	0.906	0.19314	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	L	0.50919	1.6	0.26645	N	0.972209	B;B;B	0.22746	0.043;0.007;0.074	B;B;B	0.11329	0.006;0.003;0.006	T	0.20840	-1.0263	9	0.66056	D	0.02	.	6.6439	0.22925	0.0:0.7539:0.0:0.2461	.	524;469;547	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	K	547;524;420;241	ENSP00000353515:E524K	ENSP00000353515:E524K	E	-	1	0	ZNF461	41821448	0.995000	0.38212	0.004000	0.12327	0.193000	0.23685	1.659000	0.37387	0.175000	0.19841	0.491000	0.48974	GAG		0.383	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		3	27	0	0	0	1	0	3	27				
RAPGEFL1	51195	broad.mit.edu	37	17	38345558	38345558	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:38345558C>G	ENST00000456989.2	+	6	638	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.L143V|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.L143V|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.L192V|RAPGEFL1_ENST00000540388.1_3'UTR			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	349					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GACGGAGAAACTTCAATATTC	0.552																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(427-429)Ctt>Gtt		Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.							155.0	158.0	157.0					17																	38345558		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38345558C>G	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.592C>G	17.37:g.38345558C>G	ENSP00000394530:p.Leu198Val					RAPGEFL1_uc010wfd.1_Missense_Mutation_p.L79V	p.L143V	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			5	917	+			349						Missense_Mutation	SNP	ENST00000456989.2	37	c.427C>G		.	.	.	.	.	.	.	.	.	.	C	16.76	3.212120	0.58452	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.27	3.07	0.35406	Ras guanine nucleotide exchange factor, domain (1);	0.184756	0.35805	N	0.002965	T	0.41858	0.1177	L	0.57536	1.79	0.54753	D	0.999985	B;B	0.16396	0.017;0.014	B;B	0.27380	0.079;0.03	T	0.35919	-0.9769	10	0.54805	T	0.06	.	12.7317	0.57201	0.0:0.9077:0.0:0.0923	.	79;349	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	V	198;143;192;143;348;143	ENSP00000394530:L198V;ENSP00000440226:L143V;ENSP00000438631:L192V;ENSP00000408322:L143V	ENSP00000264644:L348V	L	+	1	0	RAPGEFL1	35599084	0.978000	0.34361	0.980000	0.43619	0.942000	0.58702	0.990000	0.29642	0.596000	0.29794	0.655000	0.94253	CTT		0.552	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		54	185	0	0	0	1	0	54	185				
IGFN1	91156	broad.mit.edu	37	1	201183351	201183351	+	Silent	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:201183351G>A	ENST00000335211.4	+	13	8905	c.8775G>A	c.(8773-8775)caG>caA	p.Q2925Q	IGFN1_ENST00000451870.2_Silent_p.Q468Q|IGFN1_ENST00000295591.8_Silent_p.Q85Q	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	468						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGAAGTGCAGCCGGGGGAGG	0.657																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(8773-8775)caG>caA		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							40.0	33.0	35.0					1																	201183351		2203	4300	6503	SO:0001819	synonymous_variant	91156							g.chr1:201183351G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8775G>A	1.37:g.201183351G>A						IGFN1_uc001gwb.3_Non-coding_Transcript	p.Q2925Q	NM_001164586	NP_001158058					12	8905	+								F8WAI1|Q9NT72	Silent	SNP	ENST00000335211.4	37	c.8775G>A	CCDS53455.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009686	0.07912	.	.	ENSG00000163395	ENST00000412892	.	.	.	3.39	2.45	0.29901	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.21211	-1.0252	4	.	.	.	.	8.0536	0.30591	0.1197:0.0:0.8803:0.0	.	.	.	.	T	343	.	.	A	+	1	0	IGFN1	199449974	0.001000	0.12720	0.004000	0.12327	0.098000	0.18820	0.179000	0.16840	0.597000	0.29811	0.313000	0.20887	GCC		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		10	28	0	0	0	1	0	10	28				
ACSL3	2181	broad.mit.edu	37	2	223789308	223789308	+	Silent	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:223789308C>T	ENST00000357430.3	+	11	1818	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	ACSL3_ENST00000392066.3_Silent_p.C429C	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	429					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CTCCACTGTGCGACAGGTAAG	0.323			T	ETV1	prostate																																	uc002vni.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(1285-1287)tgC>tgT		Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	Icosapent(DB00159)						84.0	83.0	83.0					2																	223789308		2203	4300	6503	SO:0001819	synonymous_variant	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223789308C>T	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1287C>T	2.37:g.223789308C>T						ACSL3_uc002vnj.3_Silent_p.C429C	p.C429C	NM_004457	NP_976251	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	10	1738	+		Renal(207;0.0183)	429					Q60I92|Q8IUM9	Silent	SNP	ENST00000357430.3	37	c.1287C>T	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959629	0.34565	.	.	ENSG00000123983	ENST00000407441	.	.	.	5.77	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.0096	8.9034	0.35507	0.0:0.2363:0.0:0.7637	.	.	.	.	X	13	.	.	R	+	1	2	ACSL3	223497552	1.000000	0.71417	0.945000	0.38365	0.390000	0.30446	1.065000	0.30592	0.458000	0.26988	-0.482000	0.04802	CGA		0.323	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		3	54	0	0	0	1	0	3	54				
C3orf67	200844	broad.mit.edu	37	3	58849302	58849302	+	Silent	SNP	G	G	T	rs148755922		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:58849302G>T	ENST00000482387.1	-	8	1296	c.1200C>A	c.(1198-1200)ggC>ggA	p.G400G	RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000472469.1_Silent_p.G307G|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Silent_p.G400G			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	400										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGCTGTCGCCGCCGTAAAAAT	0.423																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1198-1200)ggC>ggA		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.							69.0	62.0	64.0					3																	58849302		2203	4300	6503	SO:0001819	synonymous_variant	200844							g.chr3:58849302G>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1200C>A	3.37:g.58849302G>T						C3orf67_uc003dks.1_Silent_p.G215G|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Silent_p.G215G|C3orf67_uc003dkw.3_Silent_p.G295G	p.G400G	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	11	1609	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	400					B9EKV6|Q6ZV69	Silent	SNP	ENST00000482387.1	37	c.1200C>A																																																																																					0.423	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		6	35	0	0	0	1	0	6	35				
TRIP11	9321	broad.mit.edu	37	14	92471796	92471796	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:92471796C>T	ENST00000267622.4	-	11	2897	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	842					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAAAATTTCATTTTTTCTT	0.333			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	uc001xzy.3				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2524-2526)Gaa>Aaa		Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.							67.0	68.0	68.0					14																	92471796		2203	4300	6503	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92471796C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2524G>A	14.37:g.92471796C>T	ENSP00000267622:p.Glu842Lys					TRIP11_uc010auf.2_Missense_Mutation_p.E578K	p.E842K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	10	2898	-			842					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.2524G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392923	0.42410	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.06142	3.34	5.92	5.92	0.95590	.	0.423150	0.27245	N	0.020254	T	0.11836	0.0288	L	0.47716	1.5	0.41722	D	0.989517	P;B	0.52316	0.952;0.122	P;B	0.51055	0.657;0.045	T	0.02444	-1.1158	10	0.33940	T	0.23	.	13.1659	0.59571	0.0:0.9267:0.0:0.0733	.	578;842	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	842;578	ENSP00000267622:E842K	ENSP00000267622:E842K	E	-	1	0	TRIP11	91541549	0.819000	0.29175	0.398000	0.26321	0.814000	0.46013	1.929000	0.40114	2.809000	0.96659	0.467000	0.42956	GAA		0.333	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	74	0	0	0	1	0	5	74				
SRCAP	10847	broad.mit.edu	37	16	30744989	30744989	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:30744989G>A	ENST00000262518.4	+	29	6749	c.6364G>A	c.(6364-6366)Ggt>Agt	p.G2122S	SRCAP_ENST00000344771.4_Missense_Mutation_p.G1964S|SRCAP_ENST00000395059.2_Missense_Mutation_p.G2060S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2122	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGGAGTGGGGGTGTGGGCGT	0.502																																						uc002dze.1																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(6364-6366)Ggt>Agt		Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.							106.0	104.0	105.0					16																	30744989		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30744989G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6364G>A	16.37:g.30744989G>A	ENSP00000262518:p.Gly2122Ser					SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.G1917S	p.G2122S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		28	6749	+			2122			Helicase C-terminal.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.6364G>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354773	0.61293	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.93547	-3.24;-3.24;-3.24	5.25	5.25	0.73442	Helicase, C-terminal (3);	0.000000	0.50627	D	0.000111	D	0.95595	0.8568	L	0.49256	1.55	0.48975	D	0.999738	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95621	0.8681	10	0.62326	D	0.03	-11.0033	17.7742	0.88502	0.0:0.0:1.0:0.0	.	2060;2122	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	S	2122;2060;1964	ENSP00000262518:G2122S;ENSP00000378499:G2060S;ENSP00000343042:G1964S	ENSP00000262518:G2122S	G	+	1	0	SRCAP	30652490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.548000	0.60718	2.724000	0.93272	0.655000	0.94253	GGT		0.502	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		10	114	0	0	0	1	0	10	114				
SPTBN2	6712	broad.mit.edu	37	11	66472833	66472833	+	Silent	SNP	C	C	T	rs367863277		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:66472833C>T	ENST00000533211.1	-	15	2245	c.1914G>A	c.(1912-1914)gaG>gaA	p.E638E	SPTBN2_ENST00000309996.2_Silent_p.E638E|SPTBN2_ENST00000529997.1_Silent_p.E638E			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	638					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGTGATTCCTCCAGCCGGG	0.697																																						uc001ojd.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(1912-1914)gaG>gaA		Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.		C		0,4322		0,0,2161	19.0	22.0	21.0		1914	2.5	1.0	11		21	2,8504		0,2,4251	no	coding-synonymous	SPTBN2	NM_006946.2		0,2,6412	TT,TC,CC		0.0235,0.0,0.0156		638/2391	66472833	2,12826	2161	4253	6414	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66472833C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.1914G>A	11.37:g.66472833C>T							p.E638E	NM_006946	NP_008877	O15020	SPTN2_HUMAN			13	1986	-			638					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.1914G>A	CCDS8150.1																																																																																				0.697	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	33	0	0	0	1	0	5	33				
CHI3L1	1116	broad.mit.edu	37	1	203148632	203148632	+	Missense_Mutation	SNP	C	C	G	rs370915482		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:203148632C>G	ENST00000255409.3	-	10	1218	c.1093G>C	c.(1093-1095)Ggc>Cgc	p.G365R		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	365					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AGATCCTGGCCACAGAAGGAG	0.637																																						uc001gzi.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						c.(1093-1095)Ggc>Cgc		Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.							54.0	56.0	55.0					1																	203148632		2203	4300	6503	SO:0001583	missense	1116				chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding	g.chr1:203148632C>G	BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.1093G>C	1.37:g.203148632C>G	ENSP00000255409:p.Gly365Arg					CHI3L1_uc001gzk.1_3'UTR|CHI3L1_uc001gzj.2_Missense_Mutation_p.G304R|CHI3L1_uc001gzl.3_5'Flank	p.G365R	NM_001276	NP_001267	P36222	CH3L1_HUMAN			9	1264	-			365					B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	ENST00000255409.3	37	c.1093G>C	CCDS1435.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.027|9.027	0.986337|0.986337	0.18889|0.18889	.|.	.|.	ENSG00000133048|ENSG00000133048	ENST00000255409|ENST00000404436	T|.	0.30182|.	1.54|.	4.69|4.69	2.36|2.36	0.29203|0.29203	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.997159|.	0.08117|.	N|.	0.995361|.	T|T	0.60792|0.60792	0.2296|0.2296	M|M	0.88640|0.88640	2.97|2.97	0.09310|0.09310	N|N	1|1	P|.	0.35575|.	0.51|.	B|.	0.25759|.	0.063|.	T|T	0.54820|0.54820	-0.8236|-0.8236	10|5	0.59425|.	D|.	0.04|.	-7.9099|-7.9099	5.3157|5.3157	0.15854|0.15854	0.0:0.6187:0.1901:0.1912|0.0:0.6187:0.1901:0.1912	.|.	365|.	P36222|.	CH3L1_HUMAN|.	R|S	365|133	ENSP00000255409:G365R|.	ENSP00000255409:G365R|.	G|W	-|-	1|2	0|0	CHI3L1|CHI3L1	201415255|201415255	0.000000|0.000000	0.05858|0.05858	0.018000|0.018000	0.16275|0.16275	0.442000|0.442000	0.32017|0.32017	0.136000|0.136000	0.15974|0.15974	0.937000|0.937000	0.37394|0.37394	0.491000|0.491000	0.48974|0.48974	GGC|TGG		0.637	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100265.1	NM_001276		4	65	0	0	0	1	0	4	65				
MTBP	27085	broad.mit.edu	37	8	121457748	121457748	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:121457748G>A	ENST00000305949.1	+	1	83	c.38G>A	c.(37-39)gGa>gAa	p.G13E	MRPL13_ENST00000306185.3_5'Flank	NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	13					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGGGGGAAGGAAAATTCCCG	0.582																																						uc003ypc.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(37-39)gGa>gAa		Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.							79.0	80.0	80.0					8																	121457748		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121457748G>A		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.38G>A	8.37:g.121457748G>A	ENSP00000303398:p.Gly13Glu					MRPL13_uc003ypa.3_5'Flank|MRPL13_uc010mdf.3_5'Flank|MTBP_uc003ypb.1_Missense_Mutation_p.G13E|MTBP_uc011lie.1_Non-coding_Transcript	p.G13E	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		0	83	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		13					B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.38G>A	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888754	0.52014	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.15	0.202	0.15190	.	0.145914	0.44483	D	0.000442	T	0.22589	0.0545	N	0.17082	0.46	0.09310	N	1	B;B	0.20052	0.006;0.041	B;B	0.23150	0.018;0.044	T	0.13361	-1.0512	9	0.41790	T	0.15	-11.3452	6.6322	0.22863	0.2591:0.1238:0.6171:0.0	.	13;13	Q96DY7;B4DUR5	MTBP_HUMAN;.	E	13	.	ENSP00000303398:G13E	G	+	2	0	MTBP	121526929	0.100000	0.21855	0.182000	0.23118	0.782000	0.44232	0.192000	0.17096	0.075000	0.16796	0.448000	0.29417	GGA		0.582	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		11	89	0	0	0	1	0	11	89				
UBN1	29855	broad.mit.edu	37	16	4924499	4924499	+	Silent	SNP	T	T	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr16:4924499T>G	ENST00000396658.4	+	14	2791	c.2088T>G	c.(2086-2088)ccT>ccG	p.P696P	UBN1_ENST00000590769.1_Silent_p.P696P|UBN1_ENST00000262376.6_Silent_p.P696P|UBN1_ENST00000545171.1_Silent_p.P696P	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	696					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCACACTGCCTGCACCCTCAA	0.498																																						uc002cyb.3																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2086-2088)ccT>ccG		Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.							122.0	132.0	128.0					16																	4924499		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4924499T>G	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2088T>G	16.37:g.4924499T>G						UBN1_uc010uxw.2_Silent_p.P696P|UBN1_uc002cyc.3_Silent_p.P696P	p.P696P	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN			14	2427	+			696					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.2088T>G	CCDS10525.1																																																																																				0.498	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		26	266	0	0	0	1	0	26	266				
PTPN21	11099	broad.mit.edu	37	14	88945377	88945377	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr14:88945377C>G	ENST00000556564.1	-	13	2682	c.2398G>C	c.(2398-2400)Gac>Cac	p.D800H	PTPN21_ENST00000328736.3_Missense_Mutation_p.D800H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	800					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTGGTGAGGTCGGACTCCGAC	0.647																																						uc001xwv.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2398-2400)Gac>Cac		Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.							42.0	45.0	44.0					14																	88945377		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945377C>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2398G>C	14.37:g.88945377C>G	ENSP00000452414:p.Asp800His					PTPN21_uc010twc.2_Missense_Mutation_p.D596H	p.D800H	NM_007039	NP_008970	Q16825	PTN21_HUMAN			12	2729	-			800						Missense_Mutation	SNP	ENST00000556564.1	37	c.2398G>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881837	0.72294	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.77620	-1.11;-1.11	5.55	5.55	0.83447	.	0.162484	0.53938	D	0.000053	D	0.88160	0.6362	M	0.72894	2.215	0.49915	D	0.999835	D	0.89917	1.0	D	0.91635	0.999	D	0.88831	0.3305	10	0.87932	D	0	.	19.5084	0.95130	0.0:1.0:0.0:0.0	.	800	Q16825	PTN21_HUMAN	H	800	ENSP00000330276:D800H;ENSP00000452414:D800H	ENSP00000330276:D800H	D	-	1	0	PTPN21	88015130	1.000000	0.71417	0.954000	0.39281	0.354000	0.29330	5.880000	0.69698	2.612000	0.88384	0.655000	0.94253	GAC		0.647	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	62	0	0	0	1	0	8	62				
OTOP3	347741	broad.mit.edu	37	17	72938090	72938090	+	Silent	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:72938090C>T	ENST00000328801.4	+	3	585	c.585C>T	c.(583-585)gaC>gaT	p.D195D		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	195						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CACAGCTGGACCTTGTCTTCT	0.567																																						uc010wrr.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(583-585)gaC>gaT		Homo sapiens otopetrin 3 (OTOP3), mRNA.							150.0	111.0	124.0					17																	72938090		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72938090C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.585C>T	17.37:g.72938090C>T						OTOP3_uc010wrq.2_Silent_p.D177D	p.D195D	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			2	585	+	all_lung(278;0.151)|Lung NSC(278;0.185)		195						Silent	SNP	ENST00000328801.4	37	c.585C>T	CCDS11709.1																																																																																				0.567	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		4	41	0	0	0	1	0	4	41				
SGK223	157285	broad.mit.edu	37	8	8176174	8176174	+	Silent	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr8:8176174G>A	ENST00000520004.1	-	6	3975	c.3711C>T	c.(3709-3711)ccC>ccT	p.P1237P	SGK223_ENST00000330777.4_Silent_p.P1237P			Q86YV5	SG223_HUMAN		1241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACACGATCTCGGGGGCCAGCC	0.612																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.4																			0											c.(3709-3711)ccC>ccT		Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.							31.0	35.0	33.0					8																	8176174		1916	4126	6042	SO:0001819	synonymous_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8176174G>A																												ENST00000520004.1:c.3711C>T	8.37:g.8176174G>A							p.P1237P	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	3711	-			1237			Protein kinase.		Q8N3N5	Silent	SNP	ENST00000520004.1	37	c.3711C>T	CCDS43706.1																																																																																				0.612	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			3	30	0	0	0	1	0	3	30				
THEG	51298	broad.mit.edu	37	19	371211	371211	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:371211C>T	ENST00000342640.4	-	6	789	c.747G>A	c.(745-747)atG>atA	p.M249I	THEG_ENST00000346878.2_Missense_Mutation_p.M225I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	249					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCTCAGACATGGGCATGC	0.642																																						uc002lol.3																			0		p.P248L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(745-747)atG>atA		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							86.0	85.0	85.0					19																	371211		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371211C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.747G>A	19.37:g.371211C>T	ENSP00000340088:p.Met249Ile					THEG_uc002lom.3_Missense_Mutation_p.M225I	p.M249I	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	790	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	249					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.747G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	9.564	1.119208	0.20877	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.28895	1.59;1.59	4.11	2.98	0.34508	.	1.346520	0.04701	N	0.415893	T	0.37945	0.1022	L	0.57536	1.79	0.27025	N	0.964376	B;P	0.38440	0.4;0.631	B;B	0.42851	0.233;0.4	T	0.34153	-0.9840	10	0.49607	T	0.09	-17.3161	8.542	0.33399	0.2305:0.7695:0.0:0.0	.	225;249	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	I	249;225	ENSP00000340088:M249I;ENSP00000264820:M225I	ENSP00000340088:M249I	M	-	3	0	THEG	322211	0.988000	0.35896	0.985000	0.45067	0.349000	0.29174	1.502000	0.35704	2.283000	0.76528	0.655000	0.94253	ATG		0.642	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			26	147	0	0	0	1	0	26	147				
CDC42	998	broad.mit.edu	37	1	22412941	22412941	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr1:22412941A>T	ENST00000344548.3	+	5	439	c.188A>T	c.(187-189)gAt>gTt	p.D63V	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.D63V|CDC42_ENST00000421089.2_Missense_Mutation_p.D105V|CDC42_ENST00000400259.1_Missense_Mutation_p.D63V	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	63					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		GGGCAAGAGGATTATGACAGA	0.373																																						uc010odr.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(322-324)gAt>gTt		Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.							117.0	118.0	117.0					1																	22412941		2203	4300	6503	SO:0001583	missense	998				T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22412941A>T	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.188A>T	1.37:g.22412941A>T	ENSP00000341072:p.Asp63Val					CDC42_uc009vqg.1_Missense_Mutation_p.D63V|CDC42_uc001bfp.3_Missense_Mutation_p.D63V|CDC42_uc009vqh.3_Missense_Mutation_p.D22V|CDC42_uc001bfq.3_Missense_Mutation_p.D63V|CDC42_uc001bfr.3_Missense_Mutation_p.D63V|CDC42_uc010ods.2_Missense_Mutation_p.D105V	p.D108V	NM_001039802	NP_001782	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	4	489	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	63					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.323A>T	CCDS221.1	.	.	.	.	.	.	.	.	.	.	a	20.7	4.031071	0.75504	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.4	4.27	0.50696	Small GTP-binding protein domain (1);	0.042947	0.85682	D	0.000000	D	0.90469	0.7015	H	0.95780	3.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.998;0.993	D;D;D;D;D	0.91635	0.999;0.993;0.999;0.993;0.984	D	0.91349	0.5103	10	0.87932	D	0	.	10.4847	0.44715	0.9223:0.0:0.0777:0.0	.	105;108;105;63;63	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	V	63;63;63;105;63	ENSP00000383118:D63V;ENSP00000341072:D63V;ENSP00000314458:D63V;ENSP00000398592:D105V;ENSP00000398327:D63V	ENSP00000314458:D63V	D	+	2	0	CDC42	22285528	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.062000	0.93920	0.979000	0.38497	0.528000	0.53228	GAT		0.373	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		14	69	0	0	0	1	0	14	69				
VMO1	284013	broad.mit.edu	37	17	4689488	4689488	+	Missense_Mutation	SNP	G	G	A	rs147226483		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:4689488G>A	ENST00000328739.5	-	1	239	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	VMO1_ENST00000354194.4_Missense_Mutation_p.P54S|VMO1_ENST00000441199.2_Missense_Mutation_p.P54S|VMO1_ENST00000416307.2_Missense_Mutation_p.P54S|GLTPD2_ENST00000331264.7_5'Flank	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	54						extracellular vesicular exosome (GO:0070062)				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						AATCCATCGGGACACATCTCA	0.622																																						uc002fyx.3																			0				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						c.(160-162)Ccc>Tcc		Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.		G	SER/PRO,SER/PRO,SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	74.0	79.0	77.0		160,160,160,160	5.6	1.0	17	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense,missense,missense	VMO1	NM_001144939.1,NM_001144940.1,NM_001144941.1,NM_182566.2	74,74,74,74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	54/115,54/103,54/71,54/203	4689488	1,13005	2203	4300	6503	SO:0001583	missense	284013				vitelline membrane formation	extracellular region		g.chr17:4689488G>A	AF521892	CCDS11055.1, CCDS45585.1, CCDS45586.1, CCDS45587.1	17p13.2	2013-03-07	2005-11-14						30387	protein-coding gene	gene with protein product						22025569	Standard	NM_182566		Approved		uc002fyx.3	Q7Z5L0		ENST00000328739.5:c.160C>T	17.37:g.4689488G>A	ENSP00000328397:p.Pro54Ser					VMO1_uc010vsh.2_Missense_Mutation_p.P54S|VMO1_uc010vsi.2_Missense_Mutation_p.P54S|VMO1_uc002fyy.3_Missense_Mutation_p.P54S|GLTPD2_uc002fza.2_5'Flank	p.P54S	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN			0	242	-			54					C9JQ15|E9PAU9|E9PGP4|Q3SXP1|Q8IUY1	Missense_Mutation	SNP	ENST00000328739.5	37	c.160C>T	CCDS11055.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006207	0.74932	2.27E-4	0.0	ENSG00000182853	ENST00000328739;ENST00000416307;ENST00000354194;ENST00000441199	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.57	5.57	0.84162	.	0.055158	0.64402	D	0.000001	D	0.84826	0.5558	M	0.83012	2.62	0.45415	D	0.998392	D;D;D;D	0.89917	0.993;1.0;1.0;1.0	D;D;D;D	0.97110	0.914;1.0;1.0;1.0	D	0.86162	0.1594	10	0.59425	D	0.04	-11.6177	15.0483	0.71844	0.0:0.0:1.0:0.0	.	54;54;54;54	C9JQ15;E9PAU9;E9PGP4;Q7Z5L0	.;.;.;VMO1_HUMAN	S	54	ENSP00000328397:P54S;ENSP00000390450:P54S;ENSP00000346133:P54S;ENSP00000408166:P54S	ENSP00000328397:P54S	P	-	1	0	VMO1	4636228	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.559000	0.73946	2.627000	0.88993	0.563000	0.77884	CCC		0.622	VMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439587.1	NM_182566		8	32	0	0	0	1	0	8	32				
DLG5	9231	broad.mit.edu	37	10	79581669	79581669	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr10:79581669G>T	ENST00000372391.2	-	15	2578	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	DLG5_ENST00000372388.2_Intron|DLG5_ENST00000459739.1_5'Flank	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	858					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGGGGGCCTGGCTCCTTCCT	0.592																																						uc001jzk.3																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2572-2574)cCa>cAa		Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.							86.0	88.0	87.0					10																	79581669		2203	4300	6503	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581669G>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2573C>A	10.37:g.79581669G>T	ENSP00000361467:p.Pro858Gln					DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.P462Q	p.P858Q	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		14	2643	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		858					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2573C>A	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	0.112	-1.137099	0.01742	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.03831	3.79	5.66	-5.35	0.02697	.	1.663530	0.04183	N	0.326935	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.45702	-0.9243	10	0.13108	T	0.6	.	6.953	0.24556	0.5538:0.0:0.211:0.2352	.	748;858	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	Q	858;407	ENSP00000361467:P858Q	ENSP00000361467:P858Q	P	-	2	0	DLG5	79251675	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.488000	0.06497	-1.589000	0.01625	-0.908000	0.02827	CCA		0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			10	94	0	0	0	1	0	10	94				
ZNF585B	92285	broad.mit.edu	37	19	37676134	37676134	+	Missense_Mutation	SNP	C	C	G	rs200913496		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr19:37676134C>G	ENST00000532828.2	-	5	2556	c.2305G>C	c.(2305-2307)Gct>Cct	p.A769P	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A714P|ZNF585B_ENST00000312908.5_Missense_Mutation_p.A357P|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	769					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCTCAAGCGTGGCTGCTC	0.448																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.3																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(2305-2307)Gct>Cct		Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.							116.0	105.0	109.0					19																	37676134		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676134C>G	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2305G>C	19.37:g.37676134C>G	ENSP00000433773:p.Ala769Pro					ZNF585B_uc002ofr.1_Missense_Mutation_p.A583P	p.A769P	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	2557	-			769					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2305G>C	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.217929	0.22373	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.09445	2.98;3.07;3.03	2.72	0.437	0.16555	Zinc finger, C2H2 (1);	0.407217	0.18093	N	0.151935	T	0.09024	0.0223	L	0.49699	1.58	0.22081	N	0.999374	B;B	0.31100	0.003;0.308	B;B	0.21546	0.001;0.035	T	0.15665	-1.0429	10	0.87932	D	0	.	7.2666	0.26234	0.0:0.25:0.0:0.75	.	714;769	E9PQH3;Q52M93	.;Z585B_HUMAN	P	714;769;357	ENSP00000436774:A714P;ENSP00000433773:A769P;ENSP00000442139:A357P	ENSP00000442139:A357P	A	-	1	0	ZNF585B	42367974	0.964000	0.33143	0.003000	0.11579	0.019000	0.09904	0.690000	0.25451	-0.529000	0.06358	-3.289000	0.00047	GCT		0.448	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		8	91	0	0	0	1	0	8	91				
SPAG9	9043	broad.mit.edu	37	17	49052246	49052246	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:49052246C>G	ENST00000262013.7	-	28	3794	c.3586G>C	c.(3586-3588)Gaa>Caa	p.E1196Q	SPAG9_ENST00000510283.1_Missense_Mutation_p.E1052Q|SPAG9_ENST00000505279.1_Missense_Mutation_p.E1186Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E1182Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1196					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCACTGTTTTCATCACCATAT	0.418																																						uc002itc.3																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3586-3588)Gaa>Caa		Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.							138.0	122.0	127.0					17																	49052246		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49052246C>G	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3586G>C	17.37:g.49052246C>G	ENSP00000262013:p.Glu1196Gln					SPAG9_uc002itd.3_Missense_Mutation_p.E1186Q|SPAG9_uc002itb.3_Missense_Mutation_p.E1182Q|SPAG9_uc002ita.3_Missense_Mutation_p.E1052Q	p.E1196Q	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		27	3795	-			1196					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3586G>C	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583818	0.46006	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.24151	1.88;1.87;1.88;1.89	5.87	5.87	0.94306	.	0.096682	0.64402	D	0.000001	T	0.37348	0.1000	L	0.53249	1.67	0.58432	D	0.999999	B;P;P;P	0.52692	0.165;0.955;0.911;0.93	B;P;P;P	0.49999	0.234;0.616;0.628;0.533	T	0.00936	-1.1508	10	0.22109	T	0.4	-24.6956	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1186;1196;1182;1052	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	Q	1196;953;943;1052;1186;1182;794	ENSP00000262013:E1196Q;ENSP00000423165:E1052Q;ENSP00000426900:E1186Q;ENSP00000349636:E1182Q	ENSP00000262013:E1196Q	E	-	1	0	SPAG9	46407245	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	7.398000	0.79919	2.941000	0.99782	0.655000	0.94253	GAA		0.418	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		5	61	0	0	0	1	0	5	61				
TFPI	7035	broad.mit.edu	37	2	188332580	188332580	+	Silent	SNP	A	A	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:188332580A>G	ENST00000233156.3	-	7	1002	c.708T>C	c.(706-708)aaT>aaC	p.N236N	TFPI_ENST00000392365.1_Silent_p.N236N|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	236	BPTI/Kunitz inhibitor 3. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)|Dalteparin(DB06779)	CAATGACTGAATTGTAGTAGA	0.413																																						uc002upy.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9						c.(706-708)aaT>aaC		Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	Coagulation factor VIIa(DB00036)						142.0	133.0	136.0					2																	188332580		2203	4300	6503	SO:0001819	synonymous_variant	7035				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr2:188332580A>G		CCDS2294.1, CCDS33349.1	2q32	2008-06-02			ENSG00000003436	ENSG00000003436			11760	protein-coding gene	gene with protein product	"""extrinsic pathway inhibitor"""	152310		LACI		1993173	Standard	XM_005246818		Approved	EPI, TFI, TFPI1	uc002upy.3	P10646	OTTHUMG00000132634	ENST00000233156.3:c.708T>C	2.37:g.188332580A>G							p.N236N	NM_006287	NP_006278	P10646	TFPI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)		6	1003	-			236			BPTI/Kunitz inhibitor 3.		O95103|Q53TS4	Silent	SNP	ENST00000233156.3	37	c.708T>C	CCDS2294.1																																																																																				0.413	TFPI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255881.1	NM_006287		17	69	0	0	0	1	0	17	69				
CHEK1	1111	broad.mit.edu	37	11	125513996	125513996	+	Missense_Mutation	SNP	G	G	A	rs34097480		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:125513996G>A	ENST00000534070.1	+	10	1189	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	CHEK1_ENST00000544373.1_Missense_Mutation_p.V312M|CHEK1_ENST00000438015.1_Missense_Mutation_p.V312M|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.V312M|CHEK1_ENST00000524737.1_Missense_Mutation_p.V312M|CHEK1_ENST00000427383.2_Missense_Mutation_p.V328M|CHEK1_ENST00000278916.3_Missense_Mutation_p.V312M	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	312			V -> M (in dbSNP:rs34097480). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGAAGAAAATGTGAAGTACTC	0.388								Other conserved DNA damage response genes																														uc010sbh.2																			0		p.W328L(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(982-984)Gtg>Atg	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 5, non-coding RNA.							89.0	87.0	88.0					11																	125513996		2201	4299	6500	SO:0001583	missense	1111				DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125513996G>A	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.934G>A	11.37:g.125513996G>A	ENSP00000435371:p.Val312Met					CHEK1_uc009zbo.3_Missense_Mutation_p.V312M|CHEK1_uc010sbi.2_Missense_Mutation_p.V312M|CHEK1_uc001qcf.4_Missense_Mutation_p.V312M|CHEK1_uc009zbp.3_Missense_Mutation_p.V312M|CHEK1_uc001qcg.4_Missense_Mutation_p.V312M	p.V328M			O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	8	1607	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	312					A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.982G>A	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533973	0.27387	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000534070;ENST00000524737;ENST00000278916	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	5.49	4.57	0.56435	Protein kinase-like domain (1);	0.278876	0.38326	N	0.001739	T	0.12433	0.0302	N	0.08118	0	0.34781	D	0.734733	B;B;B;B	0.13594	0.007;0.008;0.002;0.002	B;B;B;B	0.17098	0.012;0.017;0.005;0.005	T	0.11616	-1.0580	10	0.33940	T	0.23	-6.7621	8.2594	0.31775	0.228:0.0:0.772:0.0	rs34097480	312;328;312;312	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	M	312;328;312;312;312;312;312	ENSP00000388648:V312M;ENSP00000391090:V328M;ENSP00000412504:V312M;ENSP00000442317:V312M;ENSP00000435371:V312M;ENSP00000432890:V312M;ENSP00000278916:V312M	ENSP00000278916:V312M	V	+	1	0	CHEK1	125019206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.757000	0.55212	2.593000	0.87608	0.655000	0.94253	GTG		0.388	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		8	96	0	0	0	1	0	8	96				
IMPDH2	3615	broad.mit.edu	37	3	49064023	49064023	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr3:49064023G>C	ENST00000326739.4	-	8	878	c.839C>G	c.(838-840)tCc>tGc	p.S280C	RP13-131K19.6_ENST00000607245.1_RNA	NM_000884.2	NP_000875.2			IMP (inosine 5'-monophosphate) dehydrogenase 2											breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGGAAGATGGAATTTCCCTG	0.468																																						uc003cvt.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16						c.(838-840)tCc>tGc		Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						123.0	109.0	114.0					3																	49064023		2203	4300	6503	SO:0001583	missense	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49064023G>C		CCDS2786.1	3p21.2	2014-05-15	2010-04-29		ENSG00000178035	ENSG00000178035	1.1.1.205		6053	protein-coding gene	gene with protein product		146691				9858805, 1969416	Standard	XM_006713128		Approved		uc003cvt.3	P12268	OTTHUMG00000156771	ENST00000326739.4:c.839C>G	3.37:g.49064023G>C	ENSP00000321584:p.Ser280Cys						p.S280C	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	7	931	-			280						Missense_Mutation	SNP	ENST00000326739.4	37	c.839C>G	CCDS2786.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.234856|4.234856	0.79800|0.79800	.|.	.|.	ENSG00000178035|ENSG00000178035	ENST00000429182|ENST00000537036;ENST00000326739;ENST00000442157	.|D;D	.|0.82344	.|-1.6;-1.6	5.53|5.53	5.53|5.53	0.82687|0.82687	.|Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94775|0.94775	0.8313|0.8313	H|H	0.97491|0.97491	4.015|4.015	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.78314	.|0.991	D|D	0.96332|0.96332	0.9244|0.9244	5|10	.|0.87932	.|D	.|0	-19.0911|-19.0911	19.4574|19.4574	0.94900|0.94900	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|280	.|P12268	.|IMDH2_HUMAN	L|C	211|280;280;255	.|ENSP00000321584:S280C;ENSP00000403502:S255C	.|ENSP00000321584:S280C	F|S	-|-	3|2	2|0	IMPDH2|IMPDH2	49039027|49039027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.706000|9.706000	0.98722|0.98722	2.604000|2.604000	0.88044|0.88044	0.591000|0.591000	0.81541|0.81541	TTC|TCC		0.468	IMPDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345657.1			5	78	0	0	0	1	0	5	78				
POSTN	10631	broad.mit.edu	37	13	38166263	38166263	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr13:38166263A>G	ENST00000379747.4	-	3	374	c.257T>C	c.(256-258)aTg>aCg	p.M86T	POSTN_ENST00000379749.4_Missense_Mutation_p.M86T|POSTN_ENST00000379742.4_Missense_Mutation_p.M86T|POSTN_ENST00000541481.1_Missense_Mutation_p.M86T|POSTN_ENST00000379743.4_Missense_Mutation_p.M86T|POSTN_ENST00000541179.1_Missense_Mutation_p.M86T	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	86	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CATTCCTTCCATTCTCATATA	0.333																																						uc001uwo.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(256-258)aTg>aCg		Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.							70.0	69.0	69.0					13																	38166263		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38166263A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.257T>C	13.37:g.38166263A>G	ENSP00000369071:p.Met86Thr					POSTN_uc001uwp.4_Missense_Mutation_p.M86T|POSTN_uc001uwr.3_Missense_Mutation_p.M86T|POSTN_uc001uwq.3_Missense_Mutation_p.M86T|POSTN_uc010teu.1_Missense_Mutation_p.M86T|POSTN_uc010tev.1_Missense_Mutation_p.M86T|POSTN_uc010tew.1_Missense_Mutation_p.M86T|POSTN_uc010tex.1_Missense_Mutation_p.M1T	p.M86T	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	2	375	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	86			EMI.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.257T>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	A	16.52	3.147665	0.57151	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.18	5.18	0.71444	EMI domain (1);FAS1 domain (1);	0.090555	0.85682	D	0.000000	D	0.86422	0.5929	L	0.36672	1.1	0.50039	D	0.999844	B;P;P;P;P;P;P	0.43662	0.304;0.622;0.761;0.481;0.814;0.762;0.761	B;B;B;B;B;B;B	0.41271	0.105;0.275;0.179;0.275;0.32;0.352;0.277	D	0.85225	0.1029	10	0.27082	T	0.32	.	15.3257	0.74160	1.0:0.0:0.0:0.0	.	86;86;86;86;86;86;86	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	T	86;86;86;86;86;86;3	ENSP00000437959:M86T;ENSP00000369073:M86T;ENSP00000369071:M86T;ENSP00000369067:M86T;ENSP00000369066:M86T;ENSP00000437953:M86T	ENSP00000369066:M86T	M	-	2	0	POSTN	37064263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.880000	0.92407	2.072000	0.62099	0.460000	0.39030	ATG		0.333	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		4	45	0	0	0	1	0	4	45				
CTDP1	9150	broad.mit.edu	37	18	77474796	77474796	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr18:77474796A>G	ENST00000299543.7	+	8	1483	c.1336A>G	c.(1336-1338)Acg>Gcg	p.T446A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T446A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	446					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCAGGGTGCCACGGGCACTGA	0.677																																						uc002lnh.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35						c.(1336-1338)Acg>Gcg		Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.							10.0	12.0	11.0					18																	77474796		2176	4267	6443	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77474796A>G	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.1336A>G	18.37:g.77474796A>G	ENSP00000299543:p.Thr446Ala					CTDP1_uc002lni.2_Missense_Mutation_p.T446A|CTDP1_uc010drd.2_Missense_Mutation_p.T446A|CTDP1_uc021ult.1_Missense_Mutation_p.T327A	p.T446A	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	7	1483	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	446					A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.1336A>G	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	A	0.624	-0.820016	0.02755	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.08546	3.13;3.08	4.42	-3.98	0.04082	.	0.782790	0.12310	N	0.480294	T	0.01800	0.0057	N	0.01729	-0.75	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39502	-0.9611	10	0.02654	T	1	-4.5525	3.4594	0.07527	0.2154:0.1608:0.5107:0.1131	.	327;446;446	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	A	446	ENSP00000299543:T446A;ENSP00000075430:T446A	ENSP00000075430:T446A	T	+	1	0	CTDP1	75575784	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.347000	0.07750	-0.862000	0.04089	-0.445000	0.05633	ACG		0.677	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		4	8	0	0	0	1	0	4	8				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		16	56	0	0	0	1	0	16	56				
ARHGAP26	23092	broad.mit.edu	37	5	142393652	142393652	+	Missense_Mutation	SNP	A	A	C			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr5:142393652A>C	ENST00000274498.4	+	12	1493	c.1115A>C	c.(1114-1116)aAc>aCc	p.N372T	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.N372T	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	372					actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGTCTACAACTCGAACAAA	0.423																																						uc011dbj.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25						c.(1114-1116)aAc>aCc		Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.							128.0	118.0	122.0					5																	142393652		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	g.chr5:142393652A>C	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1115A>C	5.37:g.142393652A>C	ENSP00000274498:p.Asn372Thr					ARHGAP26_uc003lmt.3_Missense_Mutation_p.N372T|ARHGAP26_uc003lmw.3_Missense_Mutation_p.N372T	p.N372T	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	1150	+		all_hematologic(541;0.0416)	372					O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1115A>C	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	8.774	0.926734	0.18056	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000451259	T;T;T	0.42131	3.17;3.2;0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.29491	0.0735	L	0.28556	0.865	0.48762	D	0.999702	B;B	0.22480	0.07;0.012	B;B	0.19148	0.024;0.013	T	0.09335	-1.0679	10	0.19147	T	0.46	.	11.6523	0.51297	1.0:0.0:0.0:0.0	.	372;372	Q9UNA1;Q9UNA1-2	RHG26_HUMAN;.	T	372;372;73	ENSP00000274498:N372T;ENSP00000367243:N372T;ENSP00000411571:N73T	ENSP00000274498:N372T	N	+	2	0	ARHGAP26	142373845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.562000	0.67346	2.008000	0.58898	0.533000	0.62120	AAC		0.423	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3	NM_015071		15	53	0	0	0	1	0	15	53				
MGAT5B	146664	broad.mit.edu	37	17	74869018	74869018	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr17:74869018G>A	ENST00000569840.2	+	2	728	c.154G>A	c.(154-156)Gac>Aac	p.D52N	MGAT5B_ENST00000565675.1_Missense_Mutation_p.D52N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D52N|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Missense_Mutation_p.D63N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	52					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGCCTGGGGGACTCGCCATT	0.602																																						uc002jti.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(187-189)Gac>Aac		Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.							55.0	57.0	56.0					17																	74869018		2203	4300	6503	SO:0001583	missense	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74869018G>A	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.154G>A	17.37:g.74869018G>A	ENSP00000456037:p.Asp52Asn					MGAT5B_uc002jtg.4_Missense_Mutation_p.D52N|MGAT5B_uc002jth.3_Missense_Mutation_p.D52N	p.D63N	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			0	290	+			52					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	ENST00000569840.2	37	c.187G>A	CCDS59299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.480201	0.96307	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.57436	0.42;0.4	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.67144	0.2862	L	0.51422	1.61	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.70714	-0.4796	10	0.87932	D	0	-32.4805	15.2078	0.73192	0.0:0.0:1.0:0.0	.	63;52	Q3V5L5-2;Q3V5L5-5	.;.	N	52;52;63	ENSP00000301618:D52N;ENSP00000391227:D63N	ENSP00000301618:D52N	D	+	1	0	MGAT5B	72380613	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.990000	0.93510	2.193000	0.70182	0.655000	0.94253	GAC		0.602	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		16	78	0	0	0	1	0	16	78				
OR5AR1	219493	broad.mit.edu	37	11	56431736	56431736	+	Missense_Mutation	SNP	C	C	A	rs182417012	byFrequency	TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr11:56431736C>A	ENST00000302969.2	+	1	599	c.575C>A	c.(574-576)aCc>aAc	p.T192N		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TGCTCAGACACCTACATCAGT	0.453													C|||	5	0.000998403	0.0	0.0	5008	,	,		23361	0.004		0.0	False		,,,				2504	0.001					uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(574-576)aCc>aAc		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							201.0	174.0	183.0					11																	56431736		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56431736C>A	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.575C>A	11.37:g.56431736C>A	ENSP00000302639:p.Thr192Asn					OR8U8_uc001nit.2_Intron	p.T192N	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	575	+			192					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.575C>A	CCDS31535.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	13.18	2.158828	0.38119	.	.	ENSG00000172459	ENST00000302969	T	0.00256	8.42	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000153	T	0.00440	0.0014	M	0.89715	3.055	0.28290	N	0.923576	D	0.76494	0.999	D	0.69824	0.966	T	0.22452	-1.0216	10	0.56958	D	0.05	.	8.8868	0.35409	0.0:0.9:0.0:0.1	.	192	Q8NGP9	O5AR1_HUMAN	N	192	ENSP00000302639:T192N	ENSP00000302639:T192N	T	+	2	0	OR5AR1	56188312	0.176000	0.23096	1.000000	0.80357	0.974000	0.67602	1.857000	0.39399	2.494000	0.84150	0.573000	0.79308	ACC		0.453	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730		22	150	0	0	0	1	0	22	150				
TGOLN2	10618	broad.mit.edu	37	2	85552043	85552043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ET-A3BV-01A-11D-A19J-08	TCGA-ET-A3BV-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a91d8c86-def8-41d7-b05e-d94b9c9303ac	21a53d88-27f7-4d6a-8667-cdb3580062eb	g.chr2:85552043delG	ENST00000409232.3	-	3	1364	c.1303delC	c.(1303-1305)cagfs	p.Q435fs	TGOLN2_ENST00000282120.2_Frame_Shift_Del_p.Q279fs|TGOLN2_ENST00000398263.2_Frame_Shift_Del_p.Q377fs|TGOLN2_ENST00000409015.1_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000377386.3_Frame_Shift_Del_p.Q435fs|TGOLN2_ENST00000444342.2_Frame_Shift_Del_p.Q435fs			O43493	TGON2_HUMAN	trans-golgi network protein 2	435						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTTACCTTCTGGTCCAAACGT	0.502																																						uc021vjw.1																			0											c.(1303-1305)cagfs		Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.							79.0	83.0	81.0					2																	85552043		1944	4102	6046	SO:0001589	frameshift_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85552043delG	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.1303delC	2.37:g.85552043delG	ENSP00000386443:p.Gln435fs					TGOLN2_uc002spb.3_Frame_Shift_Del_p.Q377fs|TGOLN2_uc002soz.3_Frame_Shift_Del_p.Q435fs|TGOLN2_uc021vjx.1_Frame_Shift_Del_p.Q435fs|TGOLN2_uc002spa.3_Non-coding_Transcript|TGOLN2_uc002spc.2_Frame_Shift_Del_p.Q435fs	p.Q435fs	NM_001206840	NP_001193769	O43493	TGON2_HUMAN			2	1637	-			435					B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Frame_Shift_Del	DEL	ENST00000409232.3	37	c.1303delC	CCDS56126.1																																																																																				0.502	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		2	4						2	4	---	---	---	---
