#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
MUC2	4583	broad.mit.edu	37	11	1093740	1093740	+	Silent	SNP	G	G	C	rs575179256		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:1093740G>C	ENST00000441003.2	+	30	5586	c.5559G>C	c.(5557-5559)ccG>ccC	p.P1853P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.P141P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4215					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAATCCTCCGCCTGAGTCCT	0.602																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5557-5559)ccG>ccC		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						267.0	317.0	300.0					11																	1093740		2144	4225	6369	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093740G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5559G>C	11.37:g.1093740G>C						MUC2_ENST00000333592.6_Silent_p.P141P|MUC2_ENST00000361558.6_Intron	p.P1853P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5586	+		all_cancers(49;1.08e-07)|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;0.191)	1856					Q14878	Silent	SNP	ENST00000441003.2	37	c.5559G>C																																																																																					0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		58	121	0	0	0	1	0	58	121				
TFAP2D	83741	broad.mit.edu	37	6	50740356	50740356	+	Splice_Site	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:50740356A>G	ENST00000008391.3	+	8	1367		c.e8-1			NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCATTTCCAGTTTGATCAC	0.378																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.e8-1		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							44.0	45.0	45.0					6																	50740356		2203	4300	6503	SO:0001630	splice_region_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740356A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1140-1A>G	6.37:g.50740356A>G								NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1367	+	Lung NSC(77;0.0334)								Splice_Site	SNP	ENST00000008391.3	37		CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	19.40	3.820318	0.71028	.	.	ENSG00000008197	ENST00000008391	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5329	0.75977	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TFAP2D	50848315	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.962000	0.93254	2.083000	0.62718	0.383000	0.25322	.		0.378	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238	Intron	4	34	0	0	0	1	0	4	34				
DNAH1	25981	broad.mit.edu	37	3	52430944	52430944	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:52430944C>T	ENST00000420323.2	+	73	11932	c.11671C>T	c.(11671-11673)Cgg>Tgg	p.R3891W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3956	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGACTGGGACCGGCGCTGCAT	0.607																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(11671-11673)Cgg>Tgg		dynein, axonemal, heavy chain 1							47.0	52.0	50.0					3																	52430944		1993	4179	6172	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52430944C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11671C>T	3.37:g.52430944C>T	ENSP00000401514:p.Arg3891Trp						p.R3891W	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	73	11932	+			3956			AAA 6 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.11671C>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741204	0.69304	.	.	ENSG00000114841	ENST00000420323;ENST00000273600	T	0.11385	2.78	4.94	4.0	0.46444	.	0.000000	0.64402	D	0.000008	T	0.51295	0.1666	H	0.99182	4.46	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.72763	-0.4195	10	0.87932	D	0	.	14.0351	0.64640	0.2428:0.7572:0.0:0.0	.	3891;3956	C9JXH6;Q9P2D7-2	.;.	W	3891;644	ENSP00000401514:R3891W	ENSP00000273600:R644W	R	+	1	2	DNAH1	52405984	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.893000	0.48633	2.291000	0.77112	0.655000	0.94253	CGG		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		17	17	0	0	0	1	0	17	17				
FKBP15	23307	broad.mit.edu	37	9	115945062	115945062	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:115945062T>C	ENST00000238256.3	-	19	2015	c.1898A>G	c.(1897-1899)cAt>cGt	p.H633R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	633					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGTTCAGCATGCAATACTCT	0.463																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(1897-1899)cAt>cGt		FK506 binding protein 15, 133kDa							327.0	310.0	315.0					9																	115945062		1965	4160	6125	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115945062T>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1898A>G	9.37:g.115945062T>C	ENSP00000238256:p.His633Arg						p.H633R	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			19	2015	-			633					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.1898A>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.249776	0.80024	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	T;T	0.23552	1.9;1.9	5.33	5.33	0.75918	.	.	.	.	.	T	0.45895	0.1365	M	0.64997	1.995	0.39750	D	0.971875	D;P	0.76494	0.999;0.932	D;P	0.66351	0.943;0.55	T	0.48399	-0.9039	9	0.59425	D	0.04	-13.9099	13.257	0.60085	0.0:0.0:0.0:1.0	.	214;633	B4DVS2;Q5T1M5	.;FKB15_HUMAN	R	658;633	ENSP00000416158:H658R;ENSP00000238256:H633R	ENSP00000238256:H633R	H	-	2	0	FKBP15	114984883	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.776000	0.75023	2.023000	0.59567	0.459000	0.35465	CAT		0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		81	119	0	0	0	1	0	81	119				
CDK8	1024	broad.mit.edu	37	13	26967554	26967554	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:26967554A>G	ENST00000381527.3	+	7	1200	c.697A>G	c.(697-699)Ata>Gta	p.I233V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTCAGAACCAATATTTCACTG	0.343																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(697-699)Ata>Gta		cyclin-dependent kinase 8							167.0	159.0	162.0					13																	26967554		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26967554A>G	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.697A>G	13.37:g.26967554A>G	ENSP00000370938:p.Ile233Val					CDK8_ENST00000536792.1_3'UTR	p.I233V	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	7	1200	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	233			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.697A>G	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	A	16.51	3.142222	0.57044	.	.	ENSG00000132964	ENST00000381527	T	0.64991	-0.13	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58438	0.2122	L	0.37750	1.13	0.80722	D	1	B;B	0.26483	0.124;0.15	B;B	0.34931	0.121;0.192	T	0.59537	-0.7436	10	0.56958	D	0.05	-16.1545	15.5584	0.76219	1.0:0.0:0.0:0.0	.	233;233	P49336-2;P49336	.;CDK8_HUMAN	V	233	ENSP00000370938:I233V	ENSP00000370938:I233V	I	+	1	0	CDK8	25865554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.122000	0.65172	0.528000	0.53228	ATA		0.343	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			7	138	0	0	0	1	0	7	138				
MTMR14	64419	broad.mit.edu	37	3	9695406	9695406	+	Silent	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:9695406G>A	ENST00000296003.4	+	2	383	c.261G>A	c.(259-261)cgG>cgA	p.R87R	MTMR14_ENST00000353332.5_Silent_p.R87R|MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	87					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACTATCCCCGGCACATCGTGT	0.507																																						ENST00000296003.4																			0				breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21						c.(259-261)cgG>cgA		myotubularin related protein 14							151.0	149.0	149.0					3																	9695406		1999	4188	6187	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9695406G>A	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.261G>A	3.37:g.9695406G>A						MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000353332.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron	p.R87R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN			2	383	+	Medulloblastoma(99;0.227)		87					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.261G>A	CCDS43043.1																																																																																				0.507	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		4	98	0	0	0	1	0	4	98				
CDYL	9425	broad.mit.edu	37	6	4937890	4937890	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:4937890G>A	ENST00000328908.5	+	6	1333	c.1202G>A	c.(1201-1203)tGt>tAt	p.C401Y	CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	401					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTCTTCTGTTGTGGACTTGAC	0.458																																						ENST00000328908.5																			0				breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30						c.(1201-1203)tGt>tAt		chromodomain protein, Y-like							101.0	97.0	98.0					6																	4937890		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4937890G>A	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.1202G>A	6.37:g.4937890G>A	ENSP00000330512:p.Cys401Tyr					CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR	p.C401Y			Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	6	1333	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	401					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.1202G>A		.	.	.	.	.	.	.	.	.	.	G	18.72	3.683776	0.68157	.	.	ENSG00000153046	ENST00000328908;ENST00000440139;ENST00000397588;ENST00000449732;ENST00000343762	T;T;T;T;T	0.66815	0.99;-0.23;0.99;0.99;0.99	5.4	5.4	0.78164	Crotonase, core (1);	0.047757	0.85682	D	0.000000	T	0.54431	0.1858	L	0.38531	1.155	0.80722	D	1	B;P	0.39071	0.318;0.658	B;B	0.41813	0.185;0.367	T	0.62286	-0.6886	10	0.66056	D	0.02	.	18.5273	0.90976	0.0:0.0:1.0:0.0	.	347;401	Q9Y232-2;Q9Y232	.;CDYL1_HUMAN	Y	401;127;347;215;215	ENSP00000330512:C401Y;ENSP00000394740:C127Y;ENSP00000380718:C347Y;ENSP00000394076:C215Y;ENSP00000340908:C215Y	ENSP00000330512:C401Y	C	+	2	0	CDYL	4882889	1.000000	0.71417	0.998000	0.56505	0.800000	0.45204	5.042000	0.64202	2.684000	0.91462	0.585000	0.79938	TGT		0.458	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		10	58	0	0	0	1	0	10	58				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	58	0	0	0	1	0	3	58				
TDRD6	221400	broad.mit.edu	37	6	46660172	46660172	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:46660172A>G	ENST00000316081.6	+	1	4307	c.4307A>G	c.(4306-4308)cAt>cGt	p.H1436R	TDRD6_ENST00000544460.1_Missense_Mutation_p.H1436R	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1436					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAATGATGCATTACTTTTCC	0.398																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4306-4308)cAt>cGt		tudor domain containing 6							134.0	139.0	137.0					6																	46660172		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660172A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4307A>G	6.37:g.46660172A>G	ENSP00000346065:p.His1436Arg					TDRD6_ENST00000316081.6_Missense_Mutation_p.H1436R	p.H1436R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4561	+			1436					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4307A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.636	-0.815229	0.02776	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.13538	2.58;2.58	5.77	-5.74	0.02391	.	1.895430	0.01914	N	0.040060	T	0.02342	0.0072	L	0.44542	1.39	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.004;0.002	T	0.39313	-0.9620	10	0.15499	T	0.54	0.0167	0.9014	0.01275	0.2213:0.2569:0.3046:0.2172	.	1436;1436	F5H5M3;O60522	.;TDRD6_HUMAN	R	1436	ENSP00000443299:H1436R;ENSP00000346065:H1436R	ENSP00000346065:H1436R	H	+	2	0	TDRD6	46768131	0.000000	0.05858	0.000000	0.03702	0.099000	0.18886	0.011000	0.13264	-0.462000	0.06984	0.533000	0.62120	CAT		0.398	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		10	171	0	0	0	1	0	10	171				
OAS3	4940	broad.mit.edu	37	12	113400550	113400550	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:113400550G>A	ENST00000228928.7	+	9	2106	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	643	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTGGGAGCAGGGCTGCAGGCA	0.597																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(1927-1929)Ggc>Agc		2'-5'-oligoadenylate synthetase 3, 100kDa							116.0	124.0	121.0					12																	113400550		2030	4203	6233	SO:0001583	missense	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113400550G>A	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1927G>A	12.37:g.113400550G>A	ENSP00000228928:p.Gly643Ser					RP1-71H24.1_ENST00000552784.1_RNA	p.G643S	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			9	2106	+			643			OAS domain 2.		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	ENST00000228928.7	37	c.1927G>A	CCDS44981.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252876	0.80135	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.51817	0.69	4.1	4.1	0.47936	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	.	.	.	.	T	0.69223	0.3087	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.74731	-0.3566	9	0.87932	D	0	.	11.6495	0.51279	0.0:0.0:1.0:0.0	.	643	Q9Y6K5	OAS3_HUMAN	S	643;642	ENSP00000228928:G643S	ENSP00000228928:G643S	G	+	1	0	OAS3	111884933	0.740000	0.28207	1.000000	0.80357	0.891000	0.51852	3.346000	0.52190	2.113000	0.64589	0.655000	0.94253	GGC		0.597	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			15	98	0	0	0	1	0	15	98				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	31	0	0	0	1	0	3	31				
POSTN	10631	broad.mit.edu	37	13	38143490	38143490	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:38143490C>A	ENST00000379747.4	-	21	2495	c.2378G>T	c.(2377-2379)gGt>gTt	p.G793V	POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	793					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.G793D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCATCACCACCTTCAATGAA	0.363																																						ENST00000379747.4																			1	Substitution - Missense(1)	p.G793D(1)	lung(1)	cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2377-2379)gGt>gTt		periostin, osteoblast specific factor							110.0	104.0	106.0					13																	38143490		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38143490C>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2378G>T	13.37:g.38143490C>A	ENSP00000369071:p.Gly793Val					POSTN_ENST00000379749.4_Intron|POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V	p.G793V	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	21	2495	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	793					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2378G>T	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945623	0.73672	.	.	ENSG00000133110	ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D	0.95412	-2.99;-3.7;-3.64;-3.64	5.59	5.59	0.84812	.	0.078682	0.51477	D	0.000088	D	0.96806	0.8957	L	0.51422	1.61	0.45035	D	0.998056	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;0.998;1.0	D	0.96383	0.9283	10	0.42905	T	0.14	.	17.7603	0.88462	0.0:1.0:0.0:0.0	.	706;766;736;793	F5H628;B1ALD8;Q15063-2;Q15063	.;.;.;POSTN_HUMAN	V	793;766;736;706	ENSP00000369071:G793V;ENSP00000369067:G766V;ENSP00000369066:G736V;ENSP00000437953:G706V	ENSP00000369066:G736V	G	-	2	0	POSTN	37041490	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.089000	0.57685	2.612000	0.88384	0.650000	0.86243	GGT		0.363	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		22	47	1	0	0.000295444	1	0.000295444	22	47				
CD68	968	broad.mit.edu	37	17	7484227	7484227	+	Silent	SNP	G	G	A	rs149306377		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:7484227G>A	ENST00000250092.6	+	5	985	c.774G>A	c.(772-774)tcG>tcA	p.S258S	AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000415124.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000396501.4_5'Flank|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000582151.1_5'Flank|MPDU1_ENST00000250124.6_5'Flank|MPDU1_ENST00000423172.2_5'Flank|CD68_ENST00000380498.6_Silent_p.S231S|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	258					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GGACATTCTCGGCTCAGAATG	0.562																																						ENST00000250092.6																			0				endometrium(1)|lung(1)|skin(1)	3						c.(772-774)tcG>tcA		CD68 molecule		G	,	0,4406		0,0,2203	92.0	81.0	85.0		693,774	-10.3	0.0	17	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous	CD68	NM_001040059.1,NM_001251.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	231/328,258/355	7484227	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484227G>A	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.774G>A	17.37:g.7484227G>A						CD68_ENST00000380498.6_Silent_p.S231S	p.S258S	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN			5	985	+			258					B4DVT4|Q53HR6|Q53XI3|Q96BI7	Silent	SNP	ENST00000250092.6	37	c.774G>A	CCDS11114.1																																																																																				0.562	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		9	43	0	0	0	1	0	9	43				
F5	2153	broad.mit.edu	37	1	169512035	169512035	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:169512035C>T	ENST00000367797.3	-	13	2494	c.2293G>A	c.(2293-2295)Gtt>Att	p.V765I	F5_ENST00000367796.3_Missense_Mutation_p.V770I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	765	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTTGAAGAAACGAATTCAGTG	0.393																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(2308-2310)Gtt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						173.0	166.0	169.0					1																	169512035		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169512035C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2293G>A	1.37:g.169512035C>T	ENSP00000356771:p.Val765Ile					F5_ENST00000367797.3_Missense_Mutation_p.V765I	p.V770I			P12259	FA5_HUMAN			13	2509	-	all_hematologic(923;0.208)		765			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2308G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	0.464	-0.887742	0.02511	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20738	2.05;2.05	5.97	3.65	0.41850	.	0.607939	0.16818	N	0.198276	T	0.00936	0.0031	N	0.00146	-1.995	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	9	0.02654	T	1	-6.384	8.6469	0.34011	0.0:0.2172:0.0:0.7828	.	765	P12259	FA5_HUMAN	I	765;770	ENSP00000356771:V765I;ENSP00000356770:V770I	ENSP00000356770:V770I	V	-	1	0	F5	167778659	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.315000	0.19451	0.496000	0.27904	-0.385000	0.06624	GTT		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		60	94	0	0	0	1	0	60	94				
HERC2P3	283755	broad.mit.edu	37	15	20644560	20644560	+	RNA	SNP	G	G	C	rs11248783		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr15:20644560G>C	ENST00000428453.1	-	0	3187							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAGGGAAGGGAGACGGCCAC	0.632																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644560G>C	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644560G>C														0	3187	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	6	0	0	0	1	0	4	6				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	34	0	0	0	1	0	3	34				
GSG2	83903	broad.mit.edu	37	17	3628342	3628342	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:3628342C>A	ENST00000325418.4	+	1	1132	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	371					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CCACCCAGGACCTGACTCCTT	0.488																																						ENST00000325418.4																			0											c.(1111-1113)gaC>gaA		germ cell associated 2 (haspin)							72.0	72.0	72.0					17																	3628342		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628342C>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1113C>A	17.37:g.3628342C>A	ENSP00000325290:p.Asp371Glu					ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	p.D371E	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN			1	1132	+			371					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1113C>A	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149658	0.37923	.	.	ENSG00000177602	ENST00000325418	T	0.07800	3.16	4.75	2.74	0.32292	.	0.298967	0.23021	N	0.052846	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	P	0.40970	0.734	B	0.37731	0.257	T	0.26503	-1.0101	10	0.87932	D	0	-33.869	8.4812	0.33043	0.0:0.7381:0.0:0.2619	.	371	Q8TF76	HASP_HUMAN	E	371	ENSP00000325290:D371E	ENSP00000325290:D371E	D	+	3	2	GSG2	3575091	0.748000	0.28294	0.722000	0.30670	0.039000	0.13416	0.888000	0.28268	0.676000	0.31285	0.655000	0.94253	GAC		0.488	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		18	30	1	0	2.4624e-09	1	2.565e-09	18	30				
SPATA31D1	389763	broad.mit.edu	37	9	84607526	84607526	+	Missense_Mutation	SNP	G	G	A	rs374174863		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:84607526G>A	ENST00000344803.2	+	4	2188	c.2141G>A	c.(2140-2142)cGt>cAt	p.R714H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	714					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATTGCTACGTCCTCAGAGC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		19681	0.0		0.001	False		,,,				2504	0.0					ENST00000344803.2																			0											c.(2140-2142)cGt>cAt		SPATA31 subfamily D, member 1		G	HIS/ARG	0,3678		0,0,1839	49.0	47.0	47.0		2141	-5.9	0.0	9		47	2,8170		0,2,4084	no	missense	FAM75D1	NM_001001670.2	29	0,2,5923	AA,AG,GG		0.0245,0.0,0.0169	probably-damaging	714/1577	84607526	2,11848	1839	4086	5925	SO:0001583	missense	389763							g.chr9:84607526G>A		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2141G>A	9.37:g.84607526G>A	ENSP00000341988:p.Arg714His						p.R714H	NM_001001670.2	NP_001001670.1					4	2188	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2141G>A	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	6.614	0.481636	0.12581	0.0	2.45E-4	ENSG00000214929	ENST00000344803	T	0.06687	3.27	2.98	-5.95	0.02241	.	3.627900	0.00582	N	0.000334	T	0.03608	0.0103	N	0.14661	0.345	0.09310	N	1	P	0.46952	0.887	B	0.37550	0.253	T	0.37079	-0.9721	10	0.12766	T	0.61	-0.0576	4.1049	0.10032	0.3166:0.0:0.3875:0.2959	.	714	Q6ZQQ2	F75D1_HUMAN	H	714	ENSP00000341988:R714H	ENSP00000341988:R714H	R	+	2	0	FAM75D1	83797346	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.903000	0.04084	-2.006000	0.00958	-0.459000	0.05422	CGT		0.473	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		23	25	0	0	0	1	0	23	25				
ASTL	431705	broad.mit.edu	37	2	96799705	96799705	+	Splice_Site	SNP	G	G	A	rs148110898		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582																																						ENST00000342380.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						c.e4+1		astacin-like metallo-endopeptidase (M12 family)		G		0,4406		0,0,2203	133.0	88.0	103.0		336	-10.0	0.0	2	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous-near-splice	ASTL	NM_001002036.3		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		112/432	96799705	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799705G>A	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.337+1C>T	2.37:g.96799705G>A							p.Y112_splice	NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN			4	335	-			112						Splice_Site	SNP	ENST00000342380.2	37	c.337_splice	CCDS33249.1																																																																																				0.582	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1		Silent	12	13	0	0	0	1	0	12	13				
RASAL2	9462	broad.mit.edu	37	1	178421757	178421757	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:178421757A>G	ENST00000462775.1	+	9	1660	c.1535A>G	c.(1534-1536)aAg>aGg	p.K512R	RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R|RASAL2_ENST00000448150.3_Missense_Mutation_p.K642R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	512	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTTATTGCCAAGGTCATTCAG	0.418																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1924-1926)aAg>aGg		RAS protein activator like 2							138.0	126.0	130.0					1																	178421757		2203	4299	6502	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178421757A>G	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1535A>G	1.37:g.178421757A>G	ENSP00000420558:p.Lys512Arg					RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R|RASAL2_ENST00000462775.1_Missense_Mutation_p.K512R	p.K642R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			11	2743	+			512					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.1925A>G	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823543	0.90873	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	D;T;D	0.90004	-2.6;1.36;-2.6	5.15	5.15	0.70609	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	H	0.97390	3.995	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.992	D;D;D	0.91635	0.993;0.999;0.982	D	0.97978	1.0347	10	0.87932	D	0	.	14.9905	0.71384	1.0:0.0:0.0:0.0	.	642;512;660	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	R	642;660;512	ENSP00000407768:K642R;ENSP00000356621:K660R;ENSP00000420558:K512R	ENSP00000356621:K660R	K	+	2	0	RASAL2	176688380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	1.929000	0.55896	0.455000	0.32223	AAG		0.418	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		25	57	0	0	0	1	0	25	57				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	21	0	0	0	1	0	18	21				
THOC2	57187	broad.mit.edu	37	X	122757971	122757971	+	Silent	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:122757971A>G	ENST00000245838.8	-	27	3289	c.3258T>C	c.(3256-3258)gaT>gaC	p.D1086D	THOC2_ENST00000355725.4_Silent_p.D1086D|THOC2_ENST00000491737.1_Silent_p.D971D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1086					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGTCTAATTGATCAGCCTTAT	0.323																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(3256-3258)gaT>gaC		THO complex 2							129.0	107.0	114.0					X																	122757971		1822	4074	5896	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122757971A>G	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.3258T>C	X.37:g.122757971A>G						THOC2_ENST00000491737.1_Silent_p.D971D|THOC2_ENST00000355725.4_Silent_p.D1086D	p.D1086D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			27	3289	-			1086					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.3258T>C	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	A	4.353	0.064981	0.08388	.	.	ENSG00000125676	ENST00000438358	.	.	.	5.77	3.37	0.38596	.	.	.	.	.	T	0.57431	0.2053	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49504	-0.8933	4	.	.	.	-19.2007	7.9545	0.30033	0.6912:0.0:0.3088:0.0	.	.	.	.	P	159	.	.	S	-	1	0	THOC2	122585652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.497000	0.35649	0.299000	0.22661	0.486000	0.48141	TCA		0.323	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			33	31	0	0	0	1	0	33	31				
MEFV	4210	broad.mit.edu	37	16	3293588	3293588	+	Silent	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000339854.4_Silent_p.P453P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CAAATCTTTGCGGGCCATCAG	0.517																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1897-1899)ccG>ccA		Mediterranean fever	Colchicine(DB01394)						158.0	170.0	166.0					16																	3293588		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3293588C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1899G>A	16.37:g.3293588C>T						MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P	p.P633P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			10	1938	-			633			B30.2/SPRY.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.1899G>A	CCDS10498.1																																																																																				0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		4	240	0	0	0	1	0	4	240				
CACNA1F	778	broad.mit.edu	37	X	49071867	49071867	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49071867C>T	ENST00000376265.2	-	28	3467	c.3406G>A	c.(3406-3408)Gtc>Atc	p.V1136I	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1136	Dihydropyridine binding. {ECO:0000250}.				axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGATGATGACGAAGCCCACG	0.502																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3406-3408)Gtc>Atc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						158.0	111.0	127.0					X																	49071867		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49071867C>T	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3406G>A	X.37:g.49071867C>T	ENSP00000365441:p.Val1136Ile					CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I	p.V1136I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			28	3467	-			1136			Dihydropyridine binding (By similarity).		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.3406G>A	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	17.98	3.520418	0.64747	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97924	-4.61;-4.61;-4.61	5.3	5.3	0.74995	Ion transport (1);	0.139951	0.48286	D	0.000194	D	0.98295	0.9435	M	0.75615	2.305	0.45046	D	0.998067	P;D	0.71674	0.725;0.998	B;D	0.65140	0.073;0.932	D	0.98323	1.0529	10	0.31617	T	0.26	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	1125;1136	F5CIQ9;O60840	.;CAC1F_HUMAN	I	1071;1125;1136	ENSP00000365427:V1071I;ENSP00000321618:V1125I;ENSP00000365441:V1136I	ENSP00000321618:V1125I	V	-	1	0	CACNA1F	48958811	1.000000	0.71417	0.958000	0.39756	0.871000	0.50021	6.033000	0.70925	2.187000	0.69744	0.600000	0.82982	GTC		0.502	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		7	16	0	0	0	1	0	7	16				
CIC	23152	broad.mit.edu	37	19	42791836	42791836	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:42791836T>C	ENST00000575354.2	+	5	762	c.722T>C	c.(721-723)cTg>cCg	p.L241P	CIC_ENST00000572681.2_Missense_Mutation_p.L1150P|CIC_ENST00000160740.3_Missense_Mutation_p.L241P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	241					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTATGCCCTGGGGCCCAAG	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3448-3450)cTg>cCg		capicua transcriptional repressor							80.0	73.0	76.0					19																	42791836		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791836T>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.722T>C	19.37:g.42791836T>C	ENSP00000458663:p.Leu241Pro					CIC_ENST00000160740.3_Missense_Mutation_p.L241P|CIC_ENST00000575354.2_Missense_Mutation_p.L241P	p.L1150P			Q96RK0	CIC_HUMAN			6	3517	+		Prostate(69;0.00682)	241			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3449T>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.577304	0.45902	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88194	0.6371	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91613	0.5304	8	0.87932	D	0	-8.6411	11.626	0.51145	0.0:0.0:0.0:1.0	.	241	Q96RK0	CIC_HUMAN	P	241	.	ENSP00000160740:L241P	L	+	2	0	CIC	47483676	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.560000	0.82277	1.853000	0.53794	0.454000	0.30748	CTG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			15	7	0	0	0	1	0	15	7				
RANBP2	5903	broad.mit.edu	37	2	109370354	109370354	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:109370354A>G	ENST00000283195.6	+	15	2255	c.2129A>G	c.(2128-2130)tAt>tGt	p.Y710C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	710					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 transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCAAAAATTATCTGAGAAAG	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2128-2130)tAt>tGt		RAN binding protein 2							102.0	119.0	113.0					2																	109370354		2192	4289	6481	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109370354A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2129A>G	2.37:g.109370354A>G	ENSP00000283195:p.Tyr710Cys						p.Y710C	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			15	2255	+			710					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2129A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477884	0.44044	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.22134	1.97	5.09	3.93	0.45458	.	.	.	.	.	T	0.13286	0.0322	N	0.19112	0.55	0.26099	N	0.98084	B	0.12630	0.006	B	0.08055	0.003	T	0.21075	-1.0256	9	0.34782	T	0.22	-4.7144	8.3509	0.32301	0.8464:0.0:0.1536:0.0	.	710	P49792	RBP2_HUMAN	C	710	ENSP00000283195:Y710C	ENSP00000283195:Y710C	Y	+	2	0	RANBP2	108736786	0.988000	0.35896	0.998000	0.56505	0.994000	0.84299	2.794000	0.47853	0.889000	0.36185	0.528000	0.53228	TAT		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		76	93	0	0	0	1	0	76	93				
DRD3	1814	broad.mit.edu	37	3	113847660	113847660	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:113847660G>A	ENST00000460779.1	-	8	1395	c.1106C>T	c.(1105-1107)aCa>aTa	p.T369I	DRD3_ENST00000383673.2_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I|DRD3_ENST00000467632.1_Missense_Mutation_p.T369I	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	369					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GCCCAGCCATGTCGTGGCACT	0.542																																						ENST00000383673.2																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36						c.(1105-1107)aCa>aTa		dopamine receptor D3	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						275.0	259.0	265.0					3																	113847660		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113847660G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.1106C>T	3.37:g.113847660G>A	ENSP00000419402:p.Thr369Ile					DRD3_ENST00000467632.1_Missense_Mutation_p.T369I|DRD3_ENST00000460779.1_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I	p.T369I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN			7	1536	-			369					A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.1106C>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703358	0.88924	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.123892	0.52532	D	0.000070	T	0.72277	0.3440	M	0.69185	2.1	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.887	D;D;D;P	0.97110	1.0;1.0;1.0;0.823	T	0.71984	-0.4427	10	0.52906	T	0.07	.	19.2856	0.94067	0.0:0.0:1.0:0.0	.	369;369;369;336	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	I	369;369;369;336	ENSP00000419402:T369I;ENSP00000420662:T369I;ENSP00000373169:T369I;ENSP00000295881:T336I	ENSP00000295881:T336I	T	-	2	0	DRD3	115330350	1.000000	0.71417	0.694000	0.30210	0.917000	0.54804	9.657000	0.98554	2.788000	0.95919	0.585000	0.79938	ACA		0.542	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		93	143	0	0	0	1	0	93	143				
PAGE1	8712	broad.mit.edu	37	X	49459349	49459349	+	Missense_Mutation	SNP	A	A	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49459349A>T	ENST00000376150.3	-	2	157	c.25T>A	c.(25-27)Tat>Aat	p.Y9N		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	9					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTACGCCGATAGATTAATCTT	0.373																																						ENST00000376150.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7						c.(25-27)Tat>Aat		P antigen family, member 1 (prostate associated)							76.0	63.0	68.0					X																	49459349		2203	4300	6503	SO:0001583	missense	8712				cellular defense response			g.chrX:49459349A>T	AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.25T>A	X.37:g.49459349A>T	ENSP00000365320:p.Tyr9Asn						p.Y9N	NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN			2	157	-	Ovarian(276;0.236)		9					Q6FGM3|Q9BSS7	Missense_Mutation	SNP	ENST00000376150.3	37	c.25T>A	CCDS14327.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817955	0.32145	.	.	ENSG00000068985	ENST00000376150	T	0.11063	2.81	1.57	1.57	0.23409	.	.	.	.	.	T	0.11324	0.0276	M	0.68317	2.08	0.09310	N	1	P	0.52061	0.95	B	0.41723	0.365	T	0.21280	-1.0250	9	0.37606	T	0.19	.	4.6903	0.12778	1.0:0.0:0.0:0.0	.	9	O75459	GAGB1_HUMAN	N	9	ENSP00000365320:Y9N	ENSP00000365320:Y9N	Y	-	1	0	PAGE1	49346060	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.335000	0.19806	0.857000	0.35407	0.314000	0.21332	TAT		0.373	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081210.1			16	15	0	0	0	1	0	16	15				
GPR112	139378	broad.mit.edu	37	X	135431378	135431378	+	Missense_Mutation	SNP	A	A	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:135431378A>T	ENST00000394143.1	+	6	5804	c.5513A>T	c.(5512-5514)tAt>tTt	p.Y1838F	GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1838					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATTTGTTTATTCACCTCAT	0.438																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(5512-5514)tAt>tTt		G protein-coupled receptor 112							137.0	119.0	125.0					X																	135431378		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135431378A>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5513A>T	X.37:g.135431378A>T	ENSP00000377699:p.Tyr1838Phe					GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F	p.Y1838F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	5804	+	Acute lymphoblastic leukemia(192;0.000127)		1838					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.5513A>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	8.228	0.803961	0.16467	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32272	1.49;1.49;1.46;1.59;1.46	3.88	1.37	0.22104	.	.	.	.	.	T	0.11196	0.0273	N	0.04880	-0.145	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.003;0.003;0.001	T	0.32877	-0.9890	9	0.13853	T	0.58	.	2.3707	0.04330	0.5058:0.0:0.1589:0.3353	.	1775;1633;1838	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	1838;1838;1633;1775;1633	ENSP00000377699:Y1838F;ENSP00000359686:Y1838F;ENSP00000416526:Y1633F;ENSP00000287534:Y1775F;ENSP00000377697:Y1633F	ENSP00000287534:Y1775F	Y	+	2	0	GPR112	135259044	0.001000	0.12720	0.017000	0.16124	0.002000	0.02628	-0.243000	0.08915	0.342000	0.23796	0.433000	0.28618	TAT		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			14	103	0	0	0	1	0	14	103				
AFF1	4299	broad.mit.edu	37	4	88047292	88047292	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr4:88047292T>C	ENST00000307808.6	+	13	3014	c.2594T>C	c.(2593-2595)cTc>cCc	p.L865P	AFF1_ENST00000544085.1_Missense_Mutation_p.L503P|AFF1_ENST00000395146.4_Missense_Mutation_p.L872P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	865					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGGAAATGCTCCCCCCGCCA	0.577																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(2593-2595)cTc>cCc		AF4/FMR2 family, member 1							69.0	72.0	71.0					4																	88047292		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88047292T>C	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2594T>C	4.37:g.88047292T>C	ENSP00000305689:p.Leu865Pro					AFF1_ENST00000395146.4_Missense_Mutation_p.L872P|AFF1_ENST00000544085.1_Missense_Mutation_p.L503P	p.L865P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	13	3014	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	865					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.2594T>C	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	T	8.003	0.755733	0.15846	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.72615	-0.67;-0.67;-0.67	5.63	2.89	0.33648	.	0.475948	0.19771	N	0.106432	T	0.62454	0.2429	M	0.69823	2.125	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.14023	0.01;0.01;0.01	T	0.56159	-0.8025	10	0.28530	T	0.3	-11.5148	3.5104	0.07706	0.1672:0.2711:0.0:0.5617	.	872;865;865	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	P	872;865;503	ENSP00000378578:L872P;ENSP00000305689:L865P;ENSP00000440843:L503P	ENSP00000305689:L865P	L	+	2	0	AFF1	88266316	0.508000	0.26154	0.959000	0.39883	0.210000	0.24377	0.628000	0.24522	0.955000	0.37878	0.519000	0.50382	CTC		0.577	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		8	75	0	0	0	1	0	8	75				
MAP3K12	7786	broad.mit.edu	37	12	53880246	53880246	+	Missense_Mutation	SNP	C	C	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:53880246C>G	ENST00000267079.2	-	4	732	c.507G>C	c.(505-507)aaG>aaC	p.K169N	MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGTTGGGGTGCTTCAGCTTTC	0.582																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(505-507)aaG>aaC		mitogen-activated protein kinase kinase kinase 12							154.0	113.0	127.0					12																	53880246		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880246C>G	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.507G>C	12.37:g.53880246C>G	ENSP00000267079:p.Lys169Asn					MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR	p.K169N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			4	732	-			169			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.507G>C	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755488	0.31046	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.88818	-2.43;-2.43;-2.43	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47852	D	0.000201	T	0.78078	0.4227	N	0.11000	0.08	0.54753	D	0.999989	B;B	0.23316	0.067;0.083	B;B	0.30943	0.074;0.122	T	0.72014	-0.4418	10	0.27082	T	0.32	.	8.6243	0.33879	0.0:0.8353:0.0:0.1647	.	202;169	G3V1Y2;Q12852	.;M3K12_HUMAN	N	169;202;202	ENSP00000267079:K169N;ENSP00000449038:K202N;ENSP00000448689:K202N	ENSP00000267079:K169N	K	-	3	2	MAP3K12	52166513	0.929000	0.31497	1.000000	0.80357	0.996000	0.88848	0.123000	0.15708	2.688000	0.91661	0.561000	0.74099	AAG		0.582	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		12	41	0	0	0	1	0	12	41				
PCDH19	57526	broad.mit.edu	37	X	99662867	99662867	+	Silent	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:99662867G>A	ENST00000373034.4	-	1	2404	c.729C>T	c.(727-729)taC>taT	p.Y243Y	PCDH19_ENST00000420881.2_Silent_p.Y243Y|PCDH19_ENST00000255531.7_Silent_p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	243	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCTCACCGCGTAGGTGGACT	0.627																																						ENST00000373034.4																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(727-729)taC>taT		protocadherin 19							125.0	129.0	128.0					X																	99662867		2181	4261	6442	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662867G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.729C>T	X.37:g.99662867G>A						PCDH19_ENST00000420881.2_Silent_p.Y243Y|PCDH19_ENST00000255531.7_Silent_p.Y243Y	p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			1	2404	-			243			Cadherin 3.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.729C>T	CCDS55462.1																																																																																				0.627	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		19	94	0	0	0	1	0	19	94				
CHD6	84181	broad.mit.edu	37	20	40102094	40102094	+	Silent	SNP	C	C	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr20:40102094C>G	ENST00000373233.3	-	17	2709	c.2532G>C	c.(2530-2532)cgG>cgC	p.R844R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	844	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTTACAGAACCGGTCGATGG	0.537																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(2530-2532)cgG>cgC		chromodomain helicase DNA binding protein 6							107.0	99.0	102.0					20																	40102094		2203	4300	6503	SO:0001819	synonymous_variant	0				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40102094C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2532G>C	20.37:g.40102094C>G						CHD6_ENST00000309279.7_Intron	p.R844R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			17	2709	-		Myeloproliferative disorder(115;0.00425)	844			Helicase C-terminal.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.2532G>C	CCDS13317.1																																																																																				0.537	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	46	0	0	0	1	0	4	46				
USP7	7874	broad.mit.edu	37	16	9014244	9014244	+	Missense_Mutation	SNP	C	C	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:9014244C>G	ENST00000344836.4	-	5	781	c.583G>C	c.(583-585)Gta>Cta	p.V195L	USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	195	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCGCCTGTACAAAGACTTCA	0.378																																						ENST00000344836.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(583-585)Gta>Cta		ubiquitin specific peptidase 7 (herpes virus-associated)							100.0	98.0	99.0					16																	9014244		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9014244C>G	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.583G>C	16.37:g.9014244C>G	ENSP00000343535:p.Val195Leu					USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L	p.V195L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN			5	781	-			195			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.583G>C	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348960	0.82132	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.70516	-0.49;-0.49;-0.49	5.63	5.63	0.86233	TRAF-like (1);MATH (2);	0.000000	0.85682	D	0.000000	T	0.76026	0.3930	L	0.61387	1.9	0.80722	D	1	B;B	0.31054	0.306;0.137	B;B	0.40602	0.334;0.156	T	0.74760	-0.3556	10	0.52906	T	0.07	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	195;179	Q93009;B7Z815	UBP7_HUMAN;.	L	195;203;96;96;137	ENSP00000343535:V195L;ENSP00000443646:V96L;ENSP00000439272:V137L	ENSP00000343535:V195L	V	-	1	0	USP7	8921745	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.726000	0.84824	2.659000	0.90383	0.655000	0.94253	GTA		0.378	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			25	38	0	0	0	1	0	25	38				
GPR119	139760	broad.mit.edu	37	X	129519123	129519123	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129519123G>T	ENST00000276218.2	-	1	388	c.299C>A	c.(298-300)aCc>aAc	p.T100N		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	100					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CCTGTCAAAGGTGATCAGCAT	0.587																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(298-300)aCc>aAc		G protein-coupled receptor 119							128.0	125.0	126.0					X																	129519123		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519123G>T	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.299C>A	X.37:g.129519123G>T	ENSP00000276218:p.Thr100Asn						p.T100N	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	388	-			100					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.299C>A	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.206615	0.58343	.	.	ENSG00000147262	ENST00000276218	T	0.73047	-0.71	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.227331	0.38164	N	0.001794	T	0.66268	0.2772	L	0.38175	1.15	0.35549	D	0.803671	P	0.35821	0.523	B	0.39562	0.303	T	0.77115	-0.2707	10	0.87932	D	0	-3.1774	16.1931	0.82005	0.0:0.0:1.0:0.0	.	100	Q8TDV5	GP119_HUMAN	N	100	ENSP00000276218:T100N	ENSP00000276218:T100N	T	-	2	0	GPR119	129346804	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	7.084000	0.76866	2.341000	0.79615	0.513000	0.50165	ACC		0.587	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		101	122	1	0	1.79411e-48	1	1.90862e-48	101	122				
SEMA3A	10371	broad.mit.edu	37	7	83739852	83739852	+	Silent	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr7:83739852C>T	ENST00000265362.4	-	4	701	c.387G>A	c.(385-387)ttG>ttA	p.L129L	SEMA3A_ENST00000436949.1_Silent_p.L129L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	129	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CACAGGCGTACAAGTGAGTCT	0.383																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(385-387)ttG>ttA		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							129.0	119.0	122.0					7																	83739852		2203	4300	6503	SO:0001819	synonymous_variant	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83739852C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.387G>A	7.37:g.83739852C>T						SEMA3A_ENST00000436949.1_Silent_p.L129L	p.L129L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			4	701	-			129			Sema.			Silent	SNP	ENST00000265362.4	37	c.387G>A	CCDS5599.1																																																																																				0.383	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		13	87	0	0	0	1	0	13	87				
ABCC8	6833	broad.mit.edu	37	11	17429999	17429999	+	Missense_Mutation	SNP	T	T	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:17429999T>A	ENST00000389817.3	-	23	2828	c.2760A>T	c.(2758-2760)gaA>gaT	p.E920D	ABCC8_ENST00000302539.4_Missense_Mutation_p.E921D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	920	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGAGCTGGCATTCAGACCTCT	0.557																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2761-2763)gaA>gaT		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						114.0	106.0	109.0					11																	17429999		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17429999T>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2760A>T	11.37:g.17429999T>A	ENSP00000374467:p.Glu920Asp					ABCC8_ENST00000389817.3_Missense_Mutation_p.E920D	p.E921D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	23	2888	-			920			ABC transporter 1.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.2763A>T	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	T	5.719	0.317167	0.10845	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.90069	-2.61;-2.61	6.04	4.19	0.49359	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	N	0.19112	0.55	0.53005	D	0.999961	B	0.02656	0.0	B	0.06405	0.002	T	0.65726	-0.6098	10	0.02654	T	1	.	9.6761	0.40041	0.0:0.7876:0.0:0.2124	.	920	Q09428	ABCC8_HUMAN	D	920;921;924	ENSP00000374467:E920D;ENSP00000303960:E921D	ENSP00000303960:E921D	E	-	3	2	ABCC8	17386575	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.809000	0.27168	0.895000	0.36342	-0.251000	0.11542	GAA		0.557	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		15	43	0	0	0	1	0	15	43				
TNC	3371	broad.mit.edu	37	9	117786329	117786329	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:117786329A>G	ENST00000350763.4	-	27	6829	c.6418T>C	c.(6418-6420)Tac>Cac	p.Y2140H	TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H|TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2140	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.			YKGA -> TRG (in Ref. 2; CAA39628). {ECO:0000305}.	bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCCCTTTGTAGGACAGAGCA	0.537																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(6418-6420)Tac>Cac		tenascin C							194.0	162.0	173.0					9																	117786329		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117786329A>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.6418T>C	9.37:g.117786329A>G	ENSP00000265131:p.Tyr2140His					TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H|TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H	p.Y2140H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			27	6829	-			2140	YKGA -> TRG (in Ref. 2; CAA39628).		Fibrinogen C-terminal.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.6418T>C	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795341	0.90453	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.43	5.43	0.79202	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.36853	0.0982	L	0.37800	1.135	0.41839	D	0.990118	D;D	0.89917	0.999;1.0	D;D	0.97110	0.995;1.0	T	0.06215	-1.0839	10	0.39692	T	0.17	.	15.757	0.78043	1.0:0.0:0.0:0.0	.	1867;2140	E9PC84;P24821	.;TENA_HUMAN	H	1776;1685;1594;1503;2140;1958;1867;1503;1777	ENSP00000344400:Y1776H;ENSP00000438152:Y1685H;ENSP00000344555:Y1594H;ENSP00000345861:Y1503H;ENSP00000265131:Y2140H;ENSP00000339553:Y1958H;ENSP00000411406:Y1867H;ENSP00000443478:Y1503H;ENSP00000442242:Y1777H	ENSP00000344400:Y1776H	Y	-	1	0	TNC	116826150	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.243000	0.95416	2.183000	0.69458	0.460000	0.39030	TAC		0.537	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		3	75	0	0	0	1	0	3	75				
INSR	3643	broad.mit.edu	37	19	7132266	7132266	+	Silent	SNP	C	C	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:7132266C>A	ENST00000302850.5	-	14	2887	c.2745G>T	c.(2743-2745)ggG>ggT	p.G915G	INSR_ENST00000341500.5_Silent_p.G903G	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	915	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCGGTGACAGCCCACGCAGCC	0.617																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(2707-2709)ggG>ggT		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						61.0	47.0	52.0					19																	7132266		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7132266C>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.2745G>T	19.37:g.7132266C>A						INSR_ENST00000302850.5_Silent_p.G915G	p.G903G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			13	2748	-			915			Fibronectin type-III 3.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Silent	SNP	ENST00000302850.5	37	c.2709G>T	CCDS12176.1																																																																																				0.617	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			13	18	1	0	4.3838e-07	1	4.47327e-07	13	18				
ACKR4	51554	broad.mit.edu	37	3	132319326	132319326	+	Silent	SNP	C	C	T			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:132319326C>T	ENST00000249887.2	+	2	181	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	29					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)	p.L29L(1)									TCAATATGAACTGATCTGTAT	0.378																																						ENST00000249887.2																			1	Substitution - coding silent(1)	p.L29L(1)	endometrium(1)								c.(85-87)Ctg>Ttg		atypical chemokine receptor 4							58.0	58.0	58.0					3																	132319326		2203	4300	6503	SO:0001819	synonymous_variant	51554							g.chr3:132319326C>T	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.85C>T	3.37:g.132319326C>T						ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	p.L29L	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1					2	181	+								B2R9U7	Silent	SNP	ENST00000249887.2	37	c.85C>T	CCDS3075.1																																																																																				0.378	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		4	23	0	0	0	1	0	4	23				
C9orf3	84909	broad.mit.edu	37	9	97843039	97843039	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:97843039G>A	ENST00000375315.2	+	14	2296	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K|C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	766					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAAAAGTGTGGAGAGGTTCCT	0.502																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2296-2298)Gag>Aag		chromosome 9 open reading frame 3							160.0	140.0	147.0					9																	97843039		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97843039G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2296G>A	9.37:g.97843039G>A	ENSP00000364464:p.Glu766Lys					C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K	p.E766K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	14	2296	+			766					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2296G>A	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.941|4.941	0.174736|0.174736	0.09391|0.09391	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000445181	T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94|.	5.57|5.57	4.66|4.66	0.58398|0.58398	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	0.050890|.	0.85682|.	N|.	0.000000|.	T|T	0.68997|0.68997	0.3062|0.3062	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	P;P;B;B;B|.	0.39443|.	0.536;0.674;0.053;0.197;0.22|.	B;B;B;B;B|.	0.40375|.	0.191;0.327;0.083;0.188;0.135|.	T|T	0.67522|0.67522	-0.5649|-0.5649	10|5	0.06099|.	T|.	0.92|.	-10.9902|-10.9902	14.8209|14.8209	0.70070|0.70070	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	107;128;766;667;667|.	B4DU39;B4DQU3;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;AMPO_HUMAN;.;.|.	K|E	667;766;490;548;128;107;130|130	ENSP00000297979:E667K;ENSP00000364464:E766K;ENSP00000402171:E490K;ENSP00000401854:E548K;ENSP00000411815:E128K;ENSP00000399365:E107K|.	ENSP00000297979:E667K|.	E|G	+|+	1|2	0|0	C9orf3|C9orf3	96882860|96882860	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.078000|0.078000	0.17371|0.17371	4.382000|4.382000	0.59594|0.59594	1.315000|1.315000	0.45114|0.45114	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		12	41	0	0	0	1	0	12	41				
MAGI3	260425	broad.mit.edu	37	1	113933961	113933962	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:113933961_113933962delTG	ENST00000307546.9	+	1	381_382	c.306_307delTG	c.(304-309)actgtgfs	p.V103fs	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369615.1_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369611.4_Frame_Shift_Del_p.V103fs	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	103	Interaction with ADRB1 and TGFA. {ECO:0000250}.|PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTCAAGACTGTGAAACCAGG	0.663																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(304-309)actgfs		membrane associated guanylate kinase, WW and PDZ domain containing 3																																				SO:0001589	frameshift_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:113933961_113933962delTG	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.306_307delTG	1.37:g.113933963_113933964delTG	ENSP00000304604:p.Val103fs					MAGI3_ENST00000369611.4_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000307546.9_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.TV102fs|MAGI3_ENST00000486456.1_3'UTR	p.TV102fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	368_369	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	102			Interaction with ADRB1 and TGFA (By similarity).|PDZ 1.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Frame_Shift_Del	DEL	ENST00000307546.9	37	c.306_307delTG	CCDS44196.1																																																																																				0.663	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		2	4						2	4	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs534308162|rs558749809|rs577192664|rs202223370	byFrequency	TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718														271	0.0541134	0.1566	0.0331	5008	,	,		16027	0.002		0.0288	False		,,,				2504	0.0102					ENST00000356347.3																			0																																																			0							g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206717_206736delGGGACCCGCGCTCCTGTCGG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.718	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		4	4						4	4	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					ENST00000542735.1																			1	Deletion - Frameshift(1)	p.T117fs*24(1)	central_nervous_system(1)	central_nervous_system(1)|prostate(4)	5						c.(349-351)cgfs		DND microRNA-mediated repression inhibitor 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		2	4						2	4	---	---	---	---
OR4E2	26686	broad.mit.edu	37	14	22134124	22134124	+	Frame_Shift_Del	DEL	A	A	-			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr14:22134124delA	ENST00000408935.1	+	1	828	c.828delA	c.(826-828)acafs	p.T276fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTTCTACACAGTGGTCACCC	0.473																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(826-828)acfs		olfactory receptor, family 4, subfamily E, member 2							66.0	63.0	64.0					14																	22134124		1965	4164	6129	SO:0001589	frameshift_variant	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22134124delA		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.828delA	14.37:g.22134124delA	ENSP00000386195:p.Thr276fs						p.T276fs	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	828	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	276					Q6IET6|Q96R62	Frame_Shift_Del	DEL	ENST00000408935.1	37	c.828delA	CCDS41916.1																																																																																				0.473	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			17	23						17	23	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129201056	129201056	+	Frame_Shift_Del	DEL	G	G	-			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129201056delG	ENST00000308167.5	-	9	2011	c.1632delC	c.(1630-1632)tccfs	p.S545fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACATAGGAGGAGGACCTCA	0.617			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1630-1632)tcfs		E74-like factor 4 (ets domain transcription factor)							47.0	51.0	49.0					X																	129201056		2203	4300	6503	SO:0001589	frameshift_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201056delG	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1632delC	X.37:g.129201056delG	ENSP00000311280:p.Ser545fs					ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs	p.S545fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			9	2011	-			545						Frame_Shift_Del	DEL	ENST00000308167.5	37	c.1632delC	CCDS14617.1																																																																																				0.617	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		7	91						7	91	---	---	---	---
