#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
SPNS3	201305	broad.mit.edu	37	17	4349448	4349448	+	Missense_Mutation	SNP	C	C	T	rs377491047		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:4349448C>T	ENST00000355530.2	+	4	788	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.R43C	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	170					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGGGACCAGCGCACCCGCGT	0.617																																						ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(508-510)Cgc>Tgc		spinster homolog 3 (Drosophila)		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	78.0	82.0		508	-1.9	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPNS3	NM_182538.4	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	170/513	4349448	2,13004	2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4349448C>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.508C>T	17.37:g.4349448C>T	ENSP00000347721:p.Arg170Cys					SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.R43C	p.R170C	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			4	788	+			170					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.508C>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444341	0.43429	2.27E-4	1.16E-4	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.70282	-0.47;-0.47	4.71	-1.85	0.07784	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	T	0.81320	-0.0986	10	0.87932	D	0	-21.9706	7.6171	0.28165	0.5252:0.3925:0.0:0.0823	.	43;170	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	C	170;43	ENSP00000347721:R170C;ENSP00000333207:R43C	ENSP00000333207:R43C	R	+	1	0	SPNS3	4296197	0.223000	0.23663	0.979000	0.43373	0.015000	0.08874	-0.087000	0.11215	-0.039000	0.13602	0.563000	0.77884	CGC		0.617	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		4	63	0	0	0	1	0	4	63				
GPS2	2874	broad.mit.edu	37	17	7217479	7217479	+	Splice_Site	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:7217479C>T	ENST00000380728.2	-	5	618		c.e5-1		RP11-542C16.2_ENST00000575474.1_Splice_Site|GPS2_ENST00000391950.3_Splice_Site|GPS2_ENST00000389167.5_Splice_Site			Q13227	GPS2_HUMAN	G protein pathway suppressor 2						cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGTCAGGTCACTGGAGTGAAA	0.493																																						ENST00000575474.1																			0											c.e13-1									189.0	173.0	178.0					17																	7217479		2203	4300	6503	SO:0001630	splice_region_variant	0							g.chr17:7217479C>T	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.318-1G>A	17.37:g.7217479C>T						GPS2_ENST00000389167.5_Splice_Site|GPS2_ENST00000380728.2_Splice_Site|GPS2_ENST00000391950.3_Splice_Site								13	1809	-								B4DXA1|Q6FHM8	Splice_Site	SNP	ENST00000380728.2	37		CCDS11100.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280109	0.59758	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2203	0.86955	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPS2	7158203	1.000000	0.71417	0.996000	0.52242	0.675000	0.39556	5.013000	0.64023	2.689000	0.91719	0.591000	0.81541	.		0.493	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	Intron	6	42	0	0	0	1	0	6	42				
ZFHX4	79776	broad.mit.edu	37	8	77766817	77766817	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:77766817A>T	ENST00000521891.2	+	10	8108	c.7660A>T	c.(7660-7662)Agt>Tgt	p.S2554C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2528C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2509C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2509C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTGCTGGGCAGTTCCCTCAC	0.512										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7660-7662)Agt>Tgt		zinc finger homeobox 4							92.0	91.0	91.0					8																	77766817		1959	4141	6100	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766817A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7660A>T	8.37:g.77766817A>T	ENSP00000430497:p.Ser2554Cys	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2509C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2509C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2528C	p.S2554C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8108	+			2509					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.7660A>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	A	5.281	0.237246	0.10023	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51574	0.7;0.75;0.72;0.71	5.38	2.43	0.29744	.	0.601618	0.14731	U	0.301740	T	0.53578	0.1805	L	0.36672	1.1	0.31886	N	0.617799	D;D;P	0.64830	0.99;0.994;0.488	D;D;P	0.68765	0.913;0.96;0.451	T	0.58075	-0.7700	10	0.87932	D	0	.	7.675	0.28480	0.514:0.0:0.486:0.0	.	2509;2509;2554	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	C	2554;2538;2509;2509;2528	ENSP00000430497:S2554C;ENSP00000399605:S2509C;ENSP00000050961:S2509C;ENSP00000430848:S2528C	ENSP00000050961:S2509C	S	+	1	0	ZFHX4	77929372	1.000000	0.71417	0.080000	0.20451	0.137000	0.21094	3.591000	0.53986	0.299000	0.22661	-0.248000	0.11899	AGT		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	61	0	0	0	1	0	20	61				
DTX4	23220	broad.mit.edu	37	11	58959580	58959580	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:58959580A>G	ENST00000227451.3	+	6	1335	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.I305V	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	411					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGACTGCACCATCTGTATGGA	0.582																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1231-1233)Atc>Gtc		deltex homolog 4 (Drosophila)							52.0	53.0	53.0					11																	58959580		2020	4175	6195	SO:0001583	missense	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58959580A>G	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1231A>G	11.37:g.58959580A>G	ENSP00000227451:p.Ile411Val					DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.I305V	p.I411V	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN			6	1335	+		all_epithelial(135;0.125)	411					Q0VF38	Missense_Mutation	SNP	ENST00000227451.3	37	c.1231A>G	CCDS44612.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891648	0.91889	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.77098	-1.07;-1.07	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	M	0.64170	1.965	0.58432	D	0.999998	D	0.63880	0.993	D	0.76071	0.987	D	0.85850	0.1403	10	0.45353	T	0.12	.	15.1405	0.72607	1.0:0.0:0.0:0.0	.	411	Q9Y2E6	DTX4_HUMAN	V	305;411	ENSP00000434055:I305V;ENSP00000227451:I411V	ENSP00000227451:I411V	I	+	1	0	DTX4	58716156	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.186000	0.94906	2.206000	0.71126	0.533000	0.62120	ATC		0.582	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		7	49	0	0	0	1	0	7	49				
TMEM2	23670	broad.mit.edu	37	9	74345121	74345121	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr9:74345121C>T	ENST00000377044.4	-	9	2361	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E545K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	608					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATACCATCTTCCAAAAAGAAA	0.403																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1822-1824)Gaa>Aaa		transmembrane protein 2							107.0	101.0	103.0					9																	74345121		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74345121C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1822G>A	9.37:g.74345121C>T	ENSP00000366243:p.Glu608Lys					TMEM2_ENST00000377066.5_Missense_Mutation_p.E545K	p.E608K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	9	2361	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	608					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1822G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104715	0.77096	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	D;D	0.98835	-5.17;-5.17	5.63	5.63	0.86233	Pectin lyase fold/virulence factor (1);	0.045899	0.85682	D	0.000000	D	0.99067	0.9680	M	0.90759	3.145	0.80722	D	1	P;D	0.59357	0.697;0.985	B;P	0.54346	0.275;0.749	D	0.99694	1.1002	10	0.66056	D	0.02	.	19.6697	0.95907	0.0:1.0:0.0:0.0	.	608;545	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	K	608;545	ENSP00000366243:E608K;ENSP00000366266:E545K	ENSP00000366243:E608K	E	-	1	0	TMEM2	73534941	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.633000	0.67825	2.649000	0.89929	0.585000	0.79938	GAA		0.403	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		4	37	0	0	0	1	0	4	37				
SHROOM4	57477	broad.mit.edu	37	X	50376383	50376383	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:50376383A>G	ENST00000289292.7	-	4	2973	c.2690T>C	c.(2689-2691)gTc>gCc	p.V897A	SHROOM4_ENST00000376020.2_Missense_Mutation_p.V897A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V781A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	897	Cys-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGATCATGGACTAGAGCTCC	0.453																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2689-2691)gTc>gCc		shroom family member 4							77.0	64.0	68.0					X																	50376383		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376383A>G	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2690T>C	X.37:g.50376383A>G	ENSP00000289292:p.Val897Ala					SHROOM4_ENST00000289292.7_Missense_Mutation_p.V897A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V781A	p.V897A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2715	-	Ovarian(276;0.236)		897			Cys-rich.		A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2690T>C	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	A	6.938	0.542865	0.13250	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.87809	-2.3;-2.3;-2.3	5.45	2.82	0.32997	.	0.436181	0.19372	N	0.115887	T	0.75803	0.3899	L	0.27053	0.805	0.09310	N	1	B	0.29037	0.231	B	0.25140	0.058	T	0.58014	-0.7711	10	0.12103	T	0.63	.	10.9649	0.47406	0.6945:0.3055:0.0:0.0	.	897	Q9ULL8	SHRM4_HUMAN	A	897;897;781	ENSP00000289292:V897A;ENSP00000365188:V897A;ENSP00000421450:V781A	ENSP00000289292:V897A	V	-	2	0	SHROOM4	50393123	0.136000	0.22515	0.276000	0.24689	0.910000	0.53928	0.942000	0.29017	0.671000	0.31185	0.345000	0.21793	GTC		0.453	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	8	0	0	0	1	0	10	8				
CD48	962	broad.mit.edu	37	1	160654876	160654876	+	Silent	SNP	G	G	A	rs200699471		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:160654876G>A	ENST00000368046.3	-	2	273	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CD48_ENST00000368045.3_Silent_p.F62F|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	62	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTTCTGGTCGAAAGTATAAA	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21571	0.0		0.0	False		,,,				2504	0.0					ENST00000368045.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(184-186)ttC>ttT		CD48 molecule		G		0,4406		0,0,2203	87.0	93.0	91.0		186	-3.1	0.0	1		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CD48	NM_001778.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		62/244	160654876	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654876G>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.186C>T	1.37:g.160654876G>A						CD48_ENST00000368046.3_Silent_p.F62F	p.F62F			P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	225	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		62			Ig-like C2-type 1.		Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	c.186C>T	CCDS1208.1																																																																																				0.443	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		7	63	0	0	0	1	0	7	63				
FAM71A	149647	broad.mit.edu	37	1	212798295	212798295	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:212798295G>T	ENST00000294829.3	+	1	507	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	26						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCACCATGGGGAAACTGCA	0.483																																						ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(76-78)Ggg>Tgg		family with sequence similarity 71, member A							116.0	105.0	108.0					1																	212798295		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798295G>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.76G>T	1.37:g.212798295G>T	ENSP00000294829:p.Gly26Trp					RP11-338C15.5_ENST00000427949.1_RNA	p.G26W	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	507	+			26					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.76G>T	CCDS1507.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225952	0.58668	.	.	ENSG00000162771	ENST00000294829	T	0.22743	1.94	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000005	T	0.53417	0.1795	M	0.90977	3.165	0.42382	D	0.992495	D	0.89917	1.0	D	0.97110	1.0	T	0.63906	-0.6531	10	0.87932	D	0	-27.067	13.0839	0.59129	0.0:0.0:1.0:0.0	.	26	Q8IYT1	FA71A_HUMAN	W	26	ENSP00000294829:G26W	ENSP00000294829:G26W	G	+	1	0	FAM71A	210864918	1.000000	0.71417	0.996000	0.52242	0.526000	0.34562	4.310000	0.59141	2.543000	0.85770	0.585000	0.79938	GGG		0.483	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		6	36	1	0	8.12818e-05	1	8.30488e-05	6	36				
VN1R2	317701	broad.mit.edu	37	19	53762190	53762190	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr19:53762190G>A	ENST00000341702.3	+	1	646	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	188					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTCTTCCAGGTGATCACCAT	0.473																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(562-564)Gtg>Atg		vomeronasal 1 receptor 2							44.0	44.0	44.0					19																	53762190		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762190G>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.562G>A	19.37:g.53762190G>A	ENSP00000351244:p.Val188Met						p.V188M	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	646	+			188					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.562G>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	7.150	0.583508	0.13749	.	.	ENSG00000196131	ENST00000341702	T	0.37584	1.19	2.94	-5.47	0.02600	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42765	0.1217	L	0.56769	1.78	0.09310	N	1	D	0.69078	0.997	D	0.70227	0.968	T	0.38950	-0.9637	9	0.66056	D	0.02	.	0.4982	0.00575	0.2911:0.1318:0.1778:0.3993	.	188	Q8NFZ6	VN1R2_HUMAN	M	188	ENSP00000351244:V188M	ENSP00000351244:V188M	V	+	1	0	VN1R2	58454002	0.109000	0.22037	0.001000	0.08648	0.006000	0.05464	-0.084000	0.11268	-1.099000	0.03034	-1.284000	0.01376	GTG		0.473	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		5	23	0	0	0	1	0	5	23				
SCN5A	6331	broad.mit.edu	37	3	38592387	38592387	+	Missense_Mutation	SNP	G	G	A	rs199473635		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:38592387G>A	ENST00000333535.4	-	28	5625	c.5476C>T	c.(5476-5478)Cgt>Tgt	p.R1826C	SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825C|SCN5A_ENST00000413689.1_Missense_Mutation_p.R1826C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808C			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1826			R -> C (in ATFB10). {ECO:0000269|PubMed:18378609}.|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGGCGATACGGAGTGGCTCA	0.507																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5476-5478)Cgt>Tgt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4286		0,0,2143	69.0	75.0	73.0		5473,5476,5422,5377,5314,5476	4.8	0.8	3		73	1,8541		0,1,4270	no	missense,missense,missense,missense,missense,missense	SCN5A	NM_000335.4,NM_001099404.1,NM_001099405.1,NM_001160160.1,NM_001160161.1,NM_198056.2	180,180,180,180,180,180	0,1,6413	AA,AG,GG		0.0117,0.0,0.0078	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1825/2016,1826/2017,1808/1999,1793/1984,1772/1963,1826/2017	38592387	1,12827	2143	4271	6414	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592387G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5476C>T	3.37:g.38592387G>A	ENSP00000328968:p.Arg1826Cys					SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772C	p.R1826C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5669	-	Medulloblastoma(35;0.163)		1826		R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5476C>T	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217872	0.79352	0.0	1.17E-4	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96396	-3.89;-3.92;-3.92;-3.97;-3.92;-3.89;-3.92;-4.0;-3.97;-3.96	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98343	0.9450	M	0.88704	2.975	0.80722	D	1	P;D;P;P;D;P	0.89917	0.747;1.0;0.865;0.95;0.96;0.863	B;D;B;P;P;P	0.79784	0.104;0.993;0.402;0.509;0.825;0.592	D	0.99113	1.0847	10	0.62326	D	0.03	.	18.0868	0.89460	0.0:0.0:1.0:0.0	.	1772;1793;1808;1826;1825;1826	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	C	1808;1825;1826;1772;1825;1808;1826;1793;1772;1772	ENSP00000398962:R1808C;ENSP00000398266:R1825C;ENSP00000410257:R1826C;ENSP00000388797:R1772C;ENSP00000397915:R1825C;ENSP00000416634:R1808C;ENSP00000328968:R1826C;ENSP00000399524:R1793C;ENSP00000403355:R1772C;ENSP00000413996:R1772C	ENSP00000328968:R1826C	R	-	1	0	SCN5A	38567391	1.000000	0.71417	0.843000	0.33291	0.975000	0.68041	5.382000	0.66213	2.504000	0.84457	0.563000	0.77884	CGT		0.507	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		4	60	0	0	0	1	0	4	60				
APBB3	10307	broad.mit.edu	37	5	139938336	139938336	+	Missense_Mutation	SNP	C	C	T	rs138766975		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:139938336C>T	ENST00000357560.4	-	13	1738	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	APBB3_ENST00000356738.2_Missense_Mutation_p.R437H|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Missense_Mutation_p.R209H|APBB3_ENST00000412920.3_Missense_Mutation_p.R430H|APBB3_ENST00000354402.5_Missense_Mutation_p.R439H|SRA1_ENST00000336283.6_5'Flank|SRA1_ENST00000520427.1_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	432	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGCAGGCGGGCACGGGC	0.662																																						ENST00000357560.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11						c.(1294-1296)cGc>cAc		amyloid beta (A4) precursor protein-binding, family B, member 3		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4394		0,0,2197	26.0	31.0	29.0		1316,1310,1295,1289	4.8	1.0	5	dbSNP_134	29	2,8588		0,2,4293	no	missense,missense,missense,missense	APBB3	NM_006051.3,NM_133172.2,NM_133173.2,NM_133174.2	29,29,29,29	0,2,6490	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	439/494,437/492,432/487,430/485	139938336	2,12982	2197	4295	6492	SO:0001583	missense	10307					actin cytoskeleton|cytoplasm		g.chr5:139938336C>T	AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1295G>A	5.37:g.139938336C>T	ENSP00000350171:p.Arg432His					APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.R437H|APBB3_ENST00000354402.5_Missense_Mutation_p.R439H|APBB3_ENST00000508496.2_Missense_Mutation_p.R209H|APBB3_ENST00000412920.3_Missense_Mutation_p.R430H	p.R432H	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1738	-			432			PID 2.		B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	ENST00000357560.4	37	c.1295G>A	CCDS4229.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671568	0.47781	0.0	2.33E-4	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.44881	1.91;1.91;1.91;0.91;1.91	4.76	4.76	0.60689	.	0.405962	0.23149	N	0.051375	T	0.47451	0.1446	L	0.36672	1.1	0.80722	D	1	D;D	0.71674	0.997;0.998	P;P	0.61003	0.687;0.882	T	0.32877	-0.9890	9	.	.	.	-11.4425	10.5566	0.45121	0.1928:0.8072:0.0:0.0	.	430;437	O95704-2;O95704-3	.;.	H	437;439;432;209;430	ENSP00000349177:R437H;ENSP00000346378:R439H;ENSP00000350171:R432H;ENSP00000444013:R209H;ENSP00000402591:R430H	.	R	-	2	0	APBB3	139918520	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.901000	0.48695	2.198000	0.70561	0.455000	0.32223	CGC		0.662	APBB3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251677.2	NM_006051		4	63	0	0	0	1	0	4	63				
PRKAR1B	5575	broad.mit.edu	37	7	716868	716868	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr7:716868C>G	ENST00000406797.1	-	4	612	c.438G>C	c.(436-438)agG>agC	p.R146S	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R146S|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R146S	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	146					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGCCTACCTCCTCTCGTTGT	0.642																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(436-438)agG>agC		protein kinase, cAMP-dependent, regulatory, type I, beta							271.0	189.0	217.0					7																	716868		2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:716868C>G	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.438G>C	7.37:g.716868C>G	ENSP00000385749:p.Arg146Ser					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R146S	p.R146S	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	4	612	-		Ovarian(82;0.0779)	146					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.438G>C	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676160	0.47886	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.63	-2.4	0.06583	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.061169	0.64402	U	0.000004	T	0.80042	0.4551	L	0.48986	1.54	0.58432	D	0.999999	P	0.48503	0.911	B	0.43728	0.429	T	0.77867	-0.2428	10	0.62326	D	0.03	-28.3567	12.3171	0.54962	0.0:0.4719:0.0:0.5281	.	146	P31321	KAP1_HUMAN	S	146;146;146;146;146;146;91;146	ENSP00000440449:R146S;ENSP00000444487:R146S;ENSP00000385749:R146S;ENSP00000385349:R146S;ENSP00000353415:R146S;ENSP00000402648:R146S;ENSP00000394633:R91S;ENSP00000406670:R146S	ENSP00000353415:R146S	R	-	3	2	PRKAR1B	683394	0.988000	0.35896	0.994000	0.49952	0.307000	0.27823	0.133000	0.15912	-0.363000	0.08101	-0.345000	0.07892	AGG		0.642	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			13	106	0	0	0	1	0	13	106				
GMPR2	51292	broad.mit.edu	37	14	24702732	24702732	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr14:24702732C>A	ENST00000355299.4	+	3	596	c.135C>A	c.(133-135)taC>taA	p.Y45*	GMPR2_ENST00000559104.1_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000399440.2_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000557854.1_Nonsense_Mutation_p.Y63*|NEDD8_ENST00000250495.5_5'Flank|GMPR2_ENST00000559910.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.Y45*|NEDD8_ENST00000533242.1_5'Flank|GMPR2_ENST00000420554.2_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.Y45*|NEDD8_ENST00000524927.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_5'Flank|NEDD8-MDP1_ENST00000604306.1_5'Flank	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	45					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCAGACATACTCTGGGGTTC	0.448																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(187-189)taC>taA		guanosine monophosphate reductase 2							96.0	97.0	96.0					14																	24702732		1980	4191	6171	SO:0001587	stop_gained	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24702732C>A		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.135C>A	14.37:g.24702732C>A	ENSP00000347449:p.Tyr45*					GMPR2_ENST00000559910.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000355299.4_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559104.1_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000420554.2_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000399440.2_Nonsense_Mutation_p.Y45*	p.Y63*			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	466	+			45					D3DS66|Q567T0|Q6IAJ8|Q86T14	Nonsense_Mutation	SNP	ENST00000355299.4	37	c.189C>A	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715839	0.89112	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	.	.	.	5.83	3.78	0.43462	.	0.059397	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2222	7.9781	0.30166	0.0:0.7154:0.0:0.2846	.	.	.	.	X	45;45;63;45;45;45	.	ENSP00000334409:Y45X	Y	+	3	2	GMPR2	23772572	0.921000	0.31238	1.000000	0.80357	0.735000	0.41995	0.971000	0.29396	0.622000	0.30249	0.563000	0.77884	TAC		0.448	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		14	50	1	0	4.14922e-12	1	4.43212e-12	14	50				
PLEKHG1	57480	broad.mit.edu	37	6	151055000	151055000	+	Silent	SNP	G	G	A	rs145506185		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:151055000G>A	ENST00000358517.2	+	2	394	c.183G>A	c.(181-183)ccG>ccA	p.P61P	PLEKHG1_ENST00000367328.1_Silent_p.P61P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	61							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGCCAGGCCGTTTTCCAGCA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		16729	0.0		0.0	False		,,,				2504	0.001					ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(181-183)ccG>ccA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1		G		1,4405	2.1+/-5.4	0,1,2202	45.0	50.0	48.0		183	-7.0	0.0	6	dbSNP_134	48	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	PLEKHG1	NM_001029884.1		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		61/1386	151055000	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151055000G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.183G>A	6.37:g.151055000G>A						PLEKHG1_ENST00000358517.2_Silent_p.P61P	p.P61P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	3	495	+			61					Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.183G>A	CCDS34552.1																																																																																				0.572	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			13	50	0	0	0	1	0	13	50				
TRPA1	8989	broad.mit.edu	37	8	72973925	72973925	+	Silent	SNP	C	C	T	rs377547475		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:72973925C>T	ENST00000262209.4	-	7	1086	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	293					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATAGGACGATATCATCA	0.423																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(877-879)tcG>tcA		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	C		0,4406		0,0,2203	220.0	175.0	190.0		879	-9.9	0.0	8		190	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRPA1	NM_007332.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		293/1120	72973925	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72973925C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.879G>A	8.37:g.72973925C>T							p.S293S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		7	1086	-			293					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.879G>A	CCDS34908.1																																																																																				0.423	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		9	58	0	0	0	1	0	9	58				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	97	0	0	0	1	0	4	97				
RARB	5915	broad.mit.edu	37	3	25502755	25502755	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:25502755G>A	ENST00000404969.1	+	2	250	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	RARB_ENST00000330688.4_Missense_Mutation_p.V77M|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	84	Modulating.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCCCCCTCGAGTGTACAAACC	0.527																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(229-231)Gtg>Atg		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						106.0	107.0	107.0					3																	25502755		2203	4300	6503	SO:0001583	missense	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25502755G>A	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.250G>A	3.37:g.25502755G>A	ENSP00000385865:p.Val84Met					RARB_ENST00000404969.1_Missense_Mutation_p.V84M|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR	p.V77M	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN			2	650	+			84			Modulating.		P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37	c.229G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.361401	0.82353	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000330688	D;D;D	0.92647	-2.88;-3.08;-3.04	5.71	5.71	0.89125	.	0.230759	0.37261	N	0.002167	D	0.92792	0.7708	L	0.51422	1.61	0.36931	D	0.891906	P;P	0.48694	0.852;0.914	P;P	0.53861	0.736;0.71	D	0.94546	0.7749	10	0.87932	D	0	.	13.1514	0.59492	0.0728:0.0:0.9272:0.0	.	84;77	P10826;F1D8S6	RARB_HUMAN;.	M	84;84;84;77	ENSP00000373282:V84M;ENSP00000385865:V84M;ENSP00000332296:V77M	ENSP00000332296:V77M	V	+	1	0	RARB	25477759	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	5.784000	0.68990	2.723000	0.93209	0.644000	0.83932	GTG		0.527	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		6	61	0	0	0	1	0	6	61				
TBC1D19	55296	broad.mit.edu	37	4	26622268	26622268	+	Silent	SNP	T	T	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:26622268T>A	ENST00000264866.4	+	4	530	c.252T>A	c.(250-252)ccT>ccA	p.P84P	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	84							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGCACCTCCTGAACATCTTA	0.368																																						ENST00000264866.4																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17						c.(250-252)ccT>ccA		TBC1 domain family, member 19							124.0	118.0	120.0					4																	26622268		2203	4300	6503	SO:0001819	synonymous_variant	55296					intracellular	Rab GTPase activator activity	g.chr4:26622268T>A	AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.252T>A	4.37:g.26622268T>A						TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR	p.P84P	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN			4	530	+		Breast(46;0.0503)	84					B9A6M0|Q9NUX1	Silent	SNP	ENST00000264866.4	37	c.252T>A	CCDS3439.1																																																																																				0.368	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215052.2	NM_018317		6	56	0	0	0	1	0	6	56				
CCDC39	339829	broad.mit.edu	37	3	180359822	180359822	+	Silent	SNP	C	C	T	rs371164022		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:180359822C>T	ENST00000442201.2	-	13	1952	c.1833G>A	c.(1831-1833)gcG>gcA	p.A611A	CCDC39_ENST00000273654.4_Silent_p.A695A	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	611					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTATTTGTGACGCAAGCATTG	0.348																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(2083-2085)gcG>gcA		coiled-coil domain containing 39		C		0,3668		0,0,1834	166.0	152.0	157.0		1833	-9.8	0.1	3		157	1,8181		0,1,4090	no	coding-synonymous	CCDC39	NM_181426.1		0,1,5924	TT,TC,CC		0.0122,0.0,0.0084		611/942	180359822	1,11849	1834	4091	5925	SO:0001819	synonymous_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180359822C>T	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.1833G>A	3.37:g.180359822C>T						CCDC39_ENST00000442201.2_Silent_p.A611A	p.A695A			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		19	2704	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		611					B4E2H1	Silent	SNP	ENST00000442201.2	37	c.2085G>A	CCDS46964.1																																																																																				0.348	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		6	63	0	0	0	1	0	6	63				
RUNX2	860	broad.mit.edu	37	6	45390445	45390445	+	Silent	SNP	A	A	G	rs563987595	byFrequency	TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000371432.3_Silent_p.Q44Q|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													A|||	6	0.00119808	0.0015	0.0	5008	,	,		8050	0.002		0.0	False		,,,				2504	0.002					ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)caA>caG		runt-related transcription factor 2							16.0	24.0	21.0					6																	45390445		1589	3298	4887	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390445A>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.174A>G	6.37:g.45390445A>G						RUNX2_ENST00000541979.1_Silent_p.Q126Q|RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q	p.Q58Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	532	+			58			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.174A>G	CCDS43467.2																																																																																				0.731	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	58	0	0	0	1	0	3	58				
TAAR6	319100	broad.mit.edu	37	6	132891858	132891858	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:132891858C>T	ENST00000275198.1	+	1	398	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	133					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGTACATTGCGGTTACTGAC	0.488																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(397-399)gCg>gTg		trace amine associated receptor 6							300.0	282.0	288.0					6																	132891858		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891858C>T	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.398C>T	6.37:g.132891858C>T	ENSP00000275198:p.Ala133Val						p.A133V	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	398	+	Breast(56;0.112)		133					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.398C>T	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924497	0.52653	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.52057	0.68	5.11	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.57710	0.2072	M	0.85462	2.755	0.42862	D	0.994118	D	0.55800	0.973	P	0.54924	0.764	T	0.69049	-0.5248	10	0.72032	D	0.01	-11.1587	15.8555	0.78975	0.0:0.8641:0.1359:0.0	.	133	Q96RI8	TAAR6_HUMAN	V	133;116	ENSP00000275198:A133V	ENSP00000275198:A133V	A	+	2	0	TAAR6	132933551	1.000000	0.71417	0.130000	0.21974	0.140000	0.21249	5.853000	0.69496	1.366000	0.46076	-0.156000	0.13503	GCG		0.488	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		94	209	0	0	0	1	0	94	209				
QARS	5859	broad.mit.edu	37	3	49136843	49136843	+	Silent	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49136843G>A	ENST00000306125.6	-	17	1885	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.L505L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	516					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAGTGTAAAGAGCCGTGGGT	0.567																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1546-1548)ctC>ctT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						85.0	90.0	88.0					3																	49136843		2203	4300	6503	SO:0001819	synonymous_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136843G>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1548C>T	3.37:g.49136843G>A						QARS_ENST00000414533.1_Silent_p.L505L	p.L516L			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	17	1885	-			516					B4DWJ2	Silent	SNP	ENST00000306125.6	37	c.1548C>T	CCDS2788.1																																																																																				0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		9	73	0	0	0	1	0	9	73				
SEPN1	57190	broad.mit.edu	37	1	26142184	26142184	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:26142184G>A	ENST00000374315.1	+	12	1684	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	RP1-317E23.3_ENST00000442055.1_RNA|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000361547.2_Missense_Mutation_p.R583H|SEPN1_ENST00000354177.4_Missense_Mutation_p.R549H|SEPN1_ENST00000494537.1_3'UTR	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	583						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTCCGGCGTGGCCTGCCC	0.607																																						ENST00000361547.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1747-1749)cGt>cAt		selenoprotein N, 1							103.0	107.0	106.0					1																	26142184		2037	4186	6223	SO:0001583	missense	57190					endoplasmic reticulum membrane|extracellular region	protein binding	g.chr1:26142184G>A	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1646G>A	1.37:g.26142184G>A	ENSP00000363434:p.Arg549His					SEPN1_ENST00000354177.4_Missense_Mutation_p.R549H|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000494537.1_3'UTR|SEPN1_ENST00000374315.1_Missense_Mutation_p.R549H	p.R583H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)	13	1803	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)	583					A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Missense_Mutation	SNP	ENST00000374315.1	37	c.1748G>A	CCDS41283.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648043	0.67358	.	.	ENSG00000162430	ENST00000361547;ENST00000354177;ENST00000374315	D;D;D	0.90133	-2.62;-2.59;-2.59	4.76	2.76	0.32466	.	0.248360	0.39146	N	0.001450	D	0.87059	0.6083	L	0.51422	1.61	0.33718	D	0.616678	D;D	0.57257	0.979;0.979	P;P	0.47015	0.534;0.451	D	0.87191	0.2234	10	0.72032	D	0.01	-1.255	4.8113	0.13345	0.1568:0.0:0.5332:0.31	.	549;583	Q9NZV5-2;Q9NZV5	.;SELN_HUMAN	H	583;549;549	ENSP00000355141:R583H;ENSP00000346109:R549H;ENSP00000363434:R549H	ENSP00000346109:R549H	R	+	2	0	SEPN1	26014771	0.922000	0.31269	0.240000	0.24138	0.993000	0.82548	1.642000	0.37207	0.466000	0.27193	0.561000	0.74099	CGT		0.607	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000019315.2	NM_020451		4	133	0	0	0	1	0	4	133				
MYCBP2	23077	broad.mit.edu	37	13	77642776	77642776	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr13:77642776T>A	ENST00000544440.2	-	70	11998	c.11981A>T	c.(11980-11982)tAt>tTt	p.Y3994F	MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y3994F|MYCBP2_ENST00000407578.2_Missense_Mutation_p.Y4032F					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTGAGCCAGATATTGCCGGCC	0.498																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(12094-12096)tAt>tTt		MYC binding protein 2, E3 ubiquitin protein ligase							157.0	131.0	140.0					13																	77642776		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77642776T>A	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.11981A>T	13.37:g.77642776T>A	ENSP00000444596:p.Tyr3994Phe					MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y3994F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y3994F	p.Y4032F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	70	12361	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	3994						Missense_Mutation	SNP	ENST00000544440.2	37	c.12095A>T		.	.	.	.	.	.	.	.	.	.	T	21.5	4.155404	0.78114	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.68025	-0.3;-0.3;-0.3	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.80149	0.4570	M	0.68593	2.085	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.81812	-0.0761	10	0.87932	D	0	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	3994	O75592	MYCB2_HUMAN	F	3994;4032;3994	ENSP00000349892:Y3994F;ENSP00000384288:Y4032F;ENSP00000444596:Y3994F	ENSP00000349892:Y3994F	Y	-	2	0	MYCBP2	76540777	1.000000	0.71417	0.999000	0.59377	0.742000	0.42306	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	TAT		0.498	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		7	31	0	0	0	1	0	7	31				
EXOC1	55763	broad.mit.edu	37	4	56768605	56768605	+	Silent	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:56768605A>G	ENST00000381295.2	+	18	2781	c.2433A>G	c.(2431-2433)aaA>aaG	p.K811K	EXOC1_ENST00000349598.6_Silent_p.K796K|EXOC1_ENST00000346134.7_Silent_p.K811K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	811					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AACTTCGTAAAGTCATTAAGG	0.388																																						ENST00000381295.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35						c.(2431-2433)aaA>aaG		exocyst complex component 1							109.0	111.0	110.0					4																	56768605		2203	4300	6503	SO:0001819	synonymous_variant	55763				exocytosis|protein transport	exocyst	protein binding	g.chr4:56768605A>G	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.2433A>G	4.37:g.56768605A>G						EXOC1_ENST00000346134.7_Silent_p.K811K|EXOC1_ENST00000349598.6_Silent_p.K796K	p.K811K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN			18	2781	+	Glioma(25;0.08)|all_neural(26;0.101)		811					Q504V4|Q8WUE7|Q96T15|Q9NZE4	Silent	SNP	ENST00000381295.2	37	c.2433A>G	CCDS3502.1																																																																																				0.388	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261		4	59	0	0	0	1	0	4	59				
RP11-24M17.5	0	broad.mit.edu	37	15	76073188	76073188	+	RNA	SNP	C	C	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:76073188C>T	ENST00000395215.3	+	0	477																											CCATACTAAACGTGCTGCCCG	0.507																																						ENST00000395215.3																			0																																																			0							g.chr15:76073188C>T																													15.37:g.76073188C>T														0	477	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	5.984	0.365574	0.11352	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.32041	0.0816	.	.	.	.	.	.	B	0.23442	0.085	B	0.20577	0.03	T	0.34551	-0.9824	6	0.59425	D	0.04	.	4.8311	0.13441	0.0:1.0:0.0:0.0	.	146	B4DZE6	.	C	146	.	ENSP00000378641:R146C	R	+	1	0	AC019294.2	73860243	1.000000	0.71417	0.004000	0.12327	0.158000	0.22134	2.228000	0.42981	0.706000	0.31912	0.162000	0.16502	CGT		0.507	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			7	110	0	0	0	1	0	7	110				
EEF1A2	1917	broad.mit.edu	37	20	62126425	62126425	+	Silent	SNP	C	C	T	rs143957818		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr20:62126425C>T	ENST00000298049.7	-	3	424	c.354G>A	c.(352-354)gcG>gcA	p.A118A	EEF1A2_ENST00000217182.3_Silent_p.A118A			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	118	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCCCACGCCCGCCGCCACGA	0.711																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(352-354)gcG>gcA		eukaryotic translation elongation factor 1 alpha 2		C		1,4399		0,1,2199	42.0	49.0	46.0		354	-7.8	0.0	20	dbSNP_134	46	0,8578		0,0,4289	no	coding-synonymous	EEF1A2	NM_001958.2		0,1,6488	TT,TC,CC		0.0,0.0227,0.0077		118/464	62126425	1,12977	2200	4289	6489	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126425C>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.354G>A	20.37:g.62126425C>T						EEF1A2_ENST00000298049.7_Silent_p.A118A	p.A118A	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		4	519	-	all_cancers(38;9.45e-12)		118					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.354G>A	CCDS13522.1																																																																																				0.711	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		18	117	0	0	0	1	0	18	117				
THSD7B	80731	broad.mit.edu	37	2	138033555	138033555	+	Missense_Mutation	SNP	C	C	T	rs568467115		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr2:138033555C>T	ENST00000409968.1	+	12	2637	c.2459C>T	c.(2458-2460)aCg>aTg	p.T820M	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M|THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	820	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGGAATAACGGGCAGCAGT	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		16373	0.0		0.0	False		,,,				2504	0.001					ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(2458-2460)aCg>aTg		thrombospondin, type I, domain containing 7B							91.0	99.0	96.0					2																	138033555		1888	4109	5997	SO:0001583	missense	80731							g.chr2:138033555C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2459C>T	2.37:g.138033555C>T	ENSP00000387145:p.Thr820Met					THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M	p.T820M						BRCA - Breast invasive adenocarcinoma(221;0.19)	12	2637	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2459C>T		.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168073	0.06461	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.24350	2.4;2.25;1.86	5.9	-2.22	0.06952	.	0.555807	0.22160	N	0.063786	T	0.09512	0.0234	N	0.02315	-0.6	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.25363	-1.0134	10	0.41790	T	0.15	.	12.7252	0.57166	0.0:0.5229:0.0:0.4771	.	820;789	Q9C0I4;C9JKN6	THS7B_HUMAN;.	M	820;820;789	ENSP00000387145:T820M;ENSP00000272643:T820M;ENSP00000413841:T789M	ENSP00000272643:T820M	T	+	2	0	THSD7B	137750025	0.042000	0.20092	0.747000	0.31113	0.227000	0.25037	0.288000	0.18939	-0.319000	0.08652	-1.320000	0.01293	ACG		0.403	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	31	0	0	0	1	0	10	31				
FAM169B	283777	broad.mit.edu	37	15	98995217	98995217	+	Silent	SNP	G	G	A	rs61734134		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:98995217G>A	ENST00000558256.1	-	5	456	c.207C>T	c.(205-207)acC>acT	p.T69T	FAM169B_ENST00000332908.4_Silent_p.T69T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	69										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGCATGCACCGGTGCCATCAC	0.587																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(205-207)acC>acT		family with sequence similarity 169, member B		G		2,4192		0,2,2095	69.0	76.0	74.0		207	-9.0	0.0	15	dbSNP_129	74	0,8466		0,0,4233	no	coding-synonymous	FAM169B	NM_182562.2		0,2,6328	AA,AG,GG		0.0,0.0477,0.0158		69/193	98995217	2,12658	2097	4233	6330	SO:0001819	synonymous_variant	283777							g.chr15:98995217G>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.207C>T	15.37:g.98995217G>A						FAM169B_ENST00000332908.4_Silent_p.T69T	p.T69T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			5	456	-			69					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.207C>T	CCDS45360.1																																																																																				0.587	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		3	35	0	0	0	1	0	3	35				
SH3TC2	79628	broad.mit.edu	37	5	148406714	148406714	+	Missense_Mutation	SNP	G	G	A	rs147490172		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:148406714G>A	ENST00000515425.1	-	11	2682	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	SH3TC2_ENST00000538184.1_Missense_Mutation_p.R408W|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R746W|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R854W|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	861					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGGCCCGAAGATAGCTC	0.567																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1222-1224)Cgg>Tgg		SH3 domain and tetratricopeptide repeats 2		G	TRP/ARG	0,4406		0,0,2203	138.0	151.0	146.0		2581	3.0	1.0	5	dbSNP_134	146	1,8599	1.2+/-3.3	0,1,4299	no	missense	SH3TC2	NM_024577.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	861/1289	148406714	1,13005	2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148406714G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2581C>T	5.37:g.148406714G>A	ENSP00000423660:p.Arg861Trp					SH3TC2_ENST00000512049.1_Missense_Mutation_p.R854W|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R746W|SH3TC2_ENST00000515425.1_Missense_Mutation_p.R861W	p.R408W			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		7	2110	-			861					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1222C>T	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	6.201	0.405279	0.11754	0.0	1.16E-4	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;D;D;D	0.94966	-1.17;-3.57;-3.57;-3.57	6.16	3.05	0.35203	Tetratricopeptide-like helical (1);	0.322330	0.31554	N	0.007457	D	0.89291	0.6673	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.31910	0.346;0.201;0.201;0.201	B;B;B;B	0.20184	0.02;0.028;0.028;0.028	T	0.81771	-0.0780	10	0.48119	T	0.1	-7.6873	8.2433	0.31673	0.2489:0.0:0.6386:0.1125	.	746;854;861;861	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	W	408;861;854;746	ENSP00000441427:R408W;ENSP00000423660:R861W;ENSP00000421860:R854W;ENSP00000377886:R746W	ENSP00000377886:R746W	R	-	1	2	SH3TC2	148386907	0.005000	0.15991	0.973000	0.42090	0.569000	0.35902	1.205000	0.32308	0.951000	0.37770	-0.142000	0.14014	CGG		0.567	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		5	227	0	0	0	1	0	5	227				
ZNF19	7567	broad.mit.edu	37	16	71512203	71512203	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:71512203T>C	ENST00000288177.5	-	5	457	c.202A>G	c.(202-204)Aga>Gga	p.R68G	ZNF19_ENST00000565100.2_5'UTR|AC010547.9_ENST00000561908.1_Missense_Mutation_p.R68G|ZNF19_ENST00000564230.1_Missense_Mutation_p.R68G|ZNF19_ENST00000567225.1_Missense_Mutation_p.R68G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R26G	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		ATGTCCCCTCTCTCCAAAAGT	0.488																																						ENST00000561908.1																			0											c.(202-204)Aga>Gga									75.0	67.0	70.0					16																	71512203		2198	4300	6498	SO:0001583	missense	0							g.chr16:71512203T>C	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.202A>G	16.37:g.71512203T>C	ENSP00000288177:p.Arg68Gly					ZNF19_ENST00000565100.2_5'UTR|ZNF19_ENST00000288177.5_Missense_Mutation_p.R68G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R26G|ZNF19_ENST00000564230.1_Missense_Mutation_p.R68G|ZNF19_ENST00000567225.1_Missense_Mutation_p.R68G	p.R68G							5	704	-								A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.202A>G	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	C	3.447	-0.112729	0.06881	.	.	ENSG00000157429	ENST00000288177	T	0.00776	5.71	2.9	-0.405	0.12392	Krueppel-associated box (3);	1.353350	0.05165	N	0.498482	T	0.00845	0.0028	L	0.28694	0.88	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47898	-0.9081	10	0.38643	T	0.18	.	7.3478	0.26674	0.0:0.49:0.0:0.51	.	68	P17023	ZNF19_HUMAN	G	68	ENSP00000288177:R68G	ENSP00000288177:R68G	R	-	1	2	ZNF19	70069704	0.000000	0.05858	0.273000	0.24645	0.015000	0.08874	-2.114000	0.01329	-0.339000	0.08401	-0.128000	0.14901	AGA		0.488	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		7	20	0	0	0	1	0	7	20				
P2RY8	286530	broad.mit.edu	37	X	1584460	1584460	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:1584460G>A	ENST00000381297.4	-	2	1202	c.992C>T	c.(991-993)aCg>aTg	p.T331M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(991-993)aCg>aTg		purinergic receptor P2Y, G-protein coupled, 8							46.0	54.0	52.0					X																	1584460		2203	4295	6498	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584460G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.992C>T	X.37:g.1584460G>A	ENSP00000370697:p.Thr331Met						p.T331M	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	1202	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	331						Missense_Mutation	SNP	ENST00000381297.4	37	c.992C>T	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	5.572	0.290411	0.10567	.	.	ENSG00000182162	ENST00000381297	T	0.63096	-0.02	2.73	1.54	0.23209	.	1.173220	0.06864	U	0.799724	T	0.40498	0.1119	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.26467	-1.0102	10	0.44086	T	0.13	.	6.1963	0.20552	0.8613:0.0:0.1387:0.0	.	331	Q86VZ1	P2RY8_HUMAN	M	331	ENSP00000370697:T331M	ENSP00000370697:T331M	T	-	2	0	P2RY8	1544460	0.961000	0.32948	0.001000	0.08648	0.421000	0.31385	2.068000	0.41471	0.007000	0.14760	0.279000	0.19357	ACG		0.701	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		9	113	0	0	0	1	0	9	113				
OR4C6	219432	broad.mit.edu	37	11	55433550	55433550	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:55433550G>T	ENST00000314259.3	+	1	937	c.908G>T	c.(907-909)tGg>tTg	p.W303L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGATGAAATGGGAGGCTTTG	0.418																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(907-909)tGg>tTg		olfactory receptor, family 4, subfamily C, member 6							75.0	75.0	75.0					11																	55433550		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433550G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.908G>T	11.37:g.55433550G>T	ENSP00000324769:p.Trp303Leu						p.W303L	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	937	+			303					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.908G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	2.273	-0.366559	0.05069	.	.	ENSG00000181903	ENST00000314259	T	0.34667	1.35	3.87	-5.38	0.02673	.	.	.	.	.	T	0.13798	0.0334	N	0.02315	-0.6	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	9	0.39692	T	0.17	.	11.1034	0.48188	0.6722:0.0:0.3278:0.0	.	303	Q8NH72	OR4C6_HUMAN	L	303	ENSP00000324769:W303L	ENSP00000324769:W303L	W	+	2	0	OR4C6	55190126	0.014000	0.17966	0.000000	0.03702	0.157000	0.22087	0.046000	0.14035	-0.955000	0.03636	-0.468000	0.05107	TGG		0.418	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		5	41	1	0	4.096e-09	1	4.27804e-09	5	41				
HTR1E	3354	broad.mit.edu	37	6	87725911	87725911	+	Missense_Mutation	SNP	C	C	T	rs375047597		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:87725911C>T	ENST00000305344.5	+	2	1562	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	287					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CACCAGGGAACGGAAGGCAGC	0.502																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(859-861)Cgg>Tgg		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	175.0	162.0	166.0		859	3.5	1.0	6		166	0,8600		0,0,4300	no	missense	HTR1E	NM_000865.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	287/366	87725911	1,13005	2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725911C>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.859C>T	6.37:g.87725911C>T	ENSP00000307766:p.Arg287Trp					HTR1E_ENST00000369584.1_Missense_Mutation_p.R287W	p.R287W	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1562	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	287					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.859C>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777978	0.31502	2.27E-4	0.0	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.74002	-0.8;-0.8	4.44	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	D	0.84151	0.5409	M	0.90369	3.11	0.48762	D	0.999701	D	0.89917	1.0	D	0.91635	0.999	D	0.86757	0.1964	10	0.87932	D	0	.	11.4769	0.50304	0.3263:0.6737:0.0:0.0	.	287	P28566	5HT1E_HUMAN	W	287	ENSP00000307766:R287W;ENSP00000358597:R287W	ENSP00000307766:R287W	R	+	1	2	HTR1E	87782630	0.996000	0.38824	0.995000	0.50966	0.321000	0.28281	1.747000	0.38298	0.821000	0.34540	0.205000	0.17691	CGG		0.502	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		12	149	0	0	0	1	0	12	149				
C16orf58	64755	broad.mit.edu	37	16	31508234	31508234	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:31508234G>A	ENST00000327237.2	-	6	677	c.638C>T	c.(637-639)gCc>gTc	p.A213V	C16orf58_ENST00000567994.1_Missense_Mutation_p.A168V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A213V|C16orf58_ENST00000430477.2_Missense_Mutation_p.A71V			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	213						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CACGGTCAGGGCAGCCCGAGT	0.632																																						ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(637-639)gCc>gTc		chromosome 16 open reading frame 58							41.0	32.0	35.0					16																	31508234		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31508234G>A	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.638C>T	16.37:g.31508234G>A	ENSP00000317579:p.Ala213Val					C16orf58_ENST00000430477.2_Missense_Mutation_p.A71V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A213V|C16orf58_ENST00000567994.1_Missense_Mutation_p.A168V	p.A213V			Q96GQ5	CP058_HUMAN			6	677	-			213					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.638C>T	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154252	0.94645	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.48201	0.82;0.82	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.72576	2.205	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.963	T	0.66329	-0.5951	10	0.41790	T	0.15	-3.1981	17.3922	0.87435	0.0:0.0:1.0:0.0	.	71;213	B4DJP2;Q96GQ5	.;CP058_HUMAN	V	213;167;71	ENSP00000317579:A213V;ENSP00000398074:A71V	ENSP00000317579:A213V	A	-	2	0	C16orf58	31415735	1.000000	0.71417	0.935000	0.37517	0.645000	0.38454	9.171000	0.94802	2.713000	0.92767	0.655000	0.94253	GCC		0.632	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		6	6	0	0	0	1	0	6	6				
BSN	8927	broad.mit.edu	37	3	49691395	49691395	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49691395C>A	ENST00000296452.4	+	5	4520	c.4406C>A	c.(4405-4407)gCa>gAa	p.A1469E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1469					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTCCCGGGCATATTCCTAC	0.632																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(4405-4407)gCa>gAa		bassoon presynaptic cytomatrix protein							130.0	123.0	125.0					3																	49691395		2203	4300	6503	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49691395C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4406C>A	3.37:g.49691395C>A	ENSP00000296452:p.Ala1469Glu						p.A1469E	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	4520	+			1469					O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.4406C>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	8.413	0.844637	0.16963	.	.	ENSG00000164061	ENST00000296452	T	0.17370	2.28	5.25	1.18	0.20946	.	0.834249	0.10687	N	0.645714	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.41556	-0.9502	10	0.19147	T	0.46	.	10.6711	0.45760	0.0:0.4846:0.2227:0.2927	.	1469	Q9UPA5	BSN_HUMAN	E	1469	ENSP00000296452:A1469E	ENSP00000296452:A1469E	A	+	2	0	BSN	49666399	0.927000	0.31430	0.078000	0.20375	0.832000	0.47134	1.472000	0.35376	-0.073000	0.12842	0.462000	0.41574	GCA		0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		4	95	1	0	0.00198382	1	0.00198382	4	95				
SCD	6319	broad.mit.edu	37	10	102112212	102112212	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:102112212C>G	ENST00000370355.2	+	3	781	c.400C>G	c.(400-402)Cta>Gta	p.L134V		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	134					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCGGCTGCCCCTACGGCTCTT	0.517																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(400-402)Cta>Gta		stearoyl-CoA desaturase (delta-9-desaturase)							146.0	141.0	142.0					10																	102112212		2203	4300	6503	SO:0001583	missense	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102112212C>G	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.400C>G	10.37:g.102112212C>G	ENSP00000359380:p.Leu134Val						p.L134V	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	3	781	+		Colorectal(252;0.0323)	134					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	ENST00000370355.2	37	c.400C>G	CCDS7493.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656813	0.67586	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.20738	2.05	5.24	5.24	0.73138	Fatty acid desaturase, type 1 (1);	0.000000	0.48286	D	0.000189	T	0.50103	0.1596	M	0.80847	2.515	0.58432	D	0.999992	D	0.63046	0.992	D	0.67900	0.954	T	0.55250	-0.8170	10	0.72032	D	0.01	-18.8221	18.8237	0.92108	0.0:1.0:0.0:0.0	.	134	O00767	ACOD_HUMAN	V	134	ENSP00000359380:L134V	ENSP00000359380:L134V	L	+	1	2	SCD	102102202	0.983000	0.35010	0.989000	0.46669	0.516000	0.34256	2.673000	0.46858	2.469000	0.83416	0.561000	0.74099	CTA		0.517	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		21	173	0	0	0	1	0	21	173				
NUP107	57122	broad.mit.edu	37	12	69103089	69103089	+	Splice_Site	SNP	G	G	A			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr12:69103089G>A	ENST00000229179.4	+	9	1133	c.801G>A	c.(799-801)caG>caA	p.Q267Q	NUP107_ENST00000378905.2_Splice_Site_p.Q116Q|NUP107_ENST00000539906.1_Splice_Site_p.Q238Q	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	267					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACAAAGTCAGGTATGACTAG	0.299																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.e9+1		nucleoporin 107kDa							64.0	74.0	71.0					12																	69103089		2203	4297	6500	SO:0001630	splice_region_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69103089G>A	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.801+1G>A	12.37:g.69103089G>A						NUP107_ENST00000539906.1_Splice_Site_p.Q238_splice|NUP107_ENST00000378905.2_Splice_Site_p.Q116_splice	p.Q267_splice	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		9	1133	+	Breast(13;6.25e-06)		267					B4DZ67|Q6PJE1	Splice_Site	SNP	ENST00000229179.4	37	c.801_splice	CCDS8985.1																																																																																				0.299	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401	Silent	6	59	0	0	0	1	0	6	59				
FAM21C	253725	broad.mit.edu	37	10	46238880	46238880	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:46238880A>G	ENST00000336378.4	+	6	689	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FAM21C_ENST00000374362.2_Missense_Mutation_p.K191E|FAM21C_ENST00000359860.4_Missense_Mutation_p.K135E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K191E|FAM21C_ENST00000537517.1_Missense_Mutation_p.K191E	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	191	Glu-rich.				retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CATTGGGTCAAAGCTGTTCAT	0.348																																						ENST00000336378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(571-573)Aag>Gag		family with sequence similarity 21, member C							99.0	97.0	98.0					10																	46238880		1237	3032	4269	SO:0001583	missense	253725							g.chr10:46238880A>G		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.571A>G	10.37:g.46238880A>G	ENSP00000337541:p.Lys191Glu					FAM21C_ENST00000359860.4_Missense_Mutation_p.K135E|FAM21C_ENST00000537517.1_Missense_Mutation_p.K191E|FAM21C_ENST00000374362.2_Missense_Mutation_p.K191E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K191E	p.K191E	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			6	689	+			191					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	ENST00000336378.4	37	c.571A>G		.	.	.	.	.	.	.	.	.	.	A	9.793	1.178328	0.21787	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848;ENST00000436993	.	.	.	3.69	2.43	0.29744	.	0.098369	0.64402	D	0.000001	T	0.51278	0.1665	L	0.59912	1.85	0.26366	N	0.976973	D;P;P;P	0.71674	0.998;0.57;0.57;0.708	D;B;B;B	0.78314	0.991;0.341;0.341;0.359	T	0.33879	-0.9851	9	0.19147	T	0.46	-20.164	7.3955	0.26934	0.6371:0.3629:0.0:0.0	.	191;191;191;136	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	E	191;191;191;191;191;135;136;103	.	ENSP00000337541:K191E	K	+	1	0	FAM21C	45558886	0.998000	0.40836	0.994000	0.49952	0.468000	0.32798	3.829000	0.55760	1.668000	0.50843	0.455000	0.32223	AAG		0.348	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				11	87	0	0	0	1	0	11	87				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		2	4						2	4	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1030952	1030952	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:1030952delG	ENST00000421673.2	-	6	729	c.679delC	c.(679-681)cagfs	p.Q227fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	227	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTACGTGCTGGGCCTGCCGG	0.667																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(679-681)agfs		mucin 6, oligomeric mucus/gel-forming							27.0	34.0	32.0					11																	1030952		1989	4147	6136	SO:0001589	frameshift_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1030952delG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.679delC	11.37:g.1030952delG	ENSP00000406861:p.Gln227fs						p.Q227fs	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	729	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	227			VWFD 1.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	c.679delC	CCDS44513.1																																																																																				0.667	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		2	4						2	4	---	---	---	---
HMGN2P46	283651	broad.mit.edu	37	15	45848231	45848231	+	lincRNA	DEL	T	T	-	rs372861121|rs368577527		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:45848231delT	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TTTGTTTAGCTTTTTTTTTTT	0.323																																						ENST00000409454.1																			0																																																			0							g.chr15:45848231delT																													15.37:g.45848231delT														0	1226	+									RNA	DEL	ENST00000557965.1	37																																																																																						0.323	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			5	6						5	6	---	---	---	---
