#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
MATN4	8785	broad.mit.edu	37	20	43926902	43926902	+	Missense_Mutation	SNP	C	C	T	rs150948243		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr20:43926902C>T	ENST00000372754.1	-	7	1465	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	MATN4_ENST00000372751.4_Missense_Mutation_p.R296H|MATN4_ENST00000372756.1_Missense_Mutation_p.R445H|MATN4_ENST00000537548.1_Missense_Mutation_p.R445H|MATN4_ENST00000360607.6_Missense_Mutation_p.R404H|MATN4_ENST00000342716.4_Missense_Mutation_p.R445H|MATN4_ENST00000353917.5_Missense_Mutation_p.R363H			O95460	MATN4_HUMAN	matrilin 4	486	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTTAAGGGCACGGGGCCGTGC	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17522	0.0		0.0	False		,,,				2504	0.0					ENST00000537548.1											0			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1333-1335)cGt>cAt	matrilin 4	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	66.0	56.0	59.0		1334,1211,1088	5.5	0.9	20	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense,missense	MATN4	NM_003833.3,NM_030590.2,NM_030592.2	29,29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	445/582,404/541,363/500	43926902	4,13002	2203	4300	6503	SO:0001583	missense	8785				extracellular region	protein binding	g.chr20:43926902C>T	AJ007581	AJ007581	CCDS13348.1, CCDS46607.1	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			2008-07-07			ENSG00000124159	ENSG00000124159	ENSG00000124159	ENSG00000124159				6910	6910	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603897	603897						9827539, 9027493	9827539, 9027493	Standard	Standard	NM_003833	NM_003833		Approved		uc002xnn.2	uc002xnn.2	O95460	O95460	OTTHUMG00000033043	OTTHUMG00000033043	ENST00000372754.1:c.1457G>A	20.37:g.43926902C>T	ENSP00000361840:p.Arg486His		MATN4_ENST00000372751.4_Missense_Mutation_p.R296H|MATN4_ENST00000342716.4_Missense_Mutation_p.R445H|MATN4_ENST00000353917.5_Missense_Mutation_p.R363H|MATN4_ENST00000372754.1_Missense_Mutation_p.R486H|MATN4_ENST00000360607.6_Missense_Mutation_p.R404H|MATN4_ENST00000372756.1_Missense_Mutation_p.R445H	p.R445H			O95460	MATN4_HUMAN			8	1578	-		Myeloproliferative disorder(115;0.0122)	486	VWFA 2.	A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1334G>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150531	0.78001	0.0	4.65E-4	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.46	5.46	0.80206	5.46	5.46	0.80206	.	0.000000	0.40144	N	0.001169	D	0.82323	0.5012	L	0.46947	1.48	0.23325	N	0.997903	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.67725	0.953;0.813;0.852	T	0.74293	-0.3712	10	0.42905	T	0.14	.	12.0539	0.53522	0.1837:0.8163:0.0:0.0	.	363;404;445	A6NNA4;O95460-4;O95460-2	.;.;.	H	296;486;445;363;404;445;445;486;296	ENSP00000361839:R296H;ENSP00000361840:R486H;ENSP00000361842:R445H;ENSP00000243983:R363H;ENSP00000353819:R404H;ENSP00000343164:R445H;ENSP00000440328:R445H;ENSP00000361837:R296H	ENSP00000255132:R486H	R	-	2	0	0	MATN4	43360316	43360316	0.723000	0.28027	0.944000	0.38274	0.924000	0.55760	2.027000	0.41078	2.559000	0.86315	0.644000	0.83932	CGT		0.662	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		118.318412	16	16	60	60			36	120.034175	120.034175	16	0.692308	0	0	0	1	0	36	16	0.692308
ADCY4	196883	broad.mit.edu	37	14	24803705	24803705	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr14:24803705C>T	ENST00000310677.4	-	2	267	c.154G>A	c.(154-156)Ggc>Agc	p.G52S	ADCY4_ENST00000554068.2_Missense_Mutation_p.G52S|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.G52S|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	52					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTCACCCTGCCGCTGGCCCAG	0.637																																						ENST00000310677.4											0			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(154-156)Ggc>Agc	adenylate cyclase 4						4.0	5.0	5.0					14																	24803705		1978	3951	5929	SO:0001583	missense	196883			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24803705C>T	AF497516	AF497516	CCDS9627.1	CCDS9627.1	14q11.2	2013-02-04			2013-02-04			ENSG00000129467	ENSG00000129467	ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	"""Adenylate cyclases"""	235	235	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600292	600292						7766992	7766992	Standard	Standard	NM_001198592	NM_001198592		Approved	AC4	uc001woy.3	uc001woy.3	Q8NFM4	Q8NFM4	OTTHUMG00000029347	OTTHUMG00000029347	ENST00000310677.4:c.154G>A	14.37:g.24803705C>T	ENSP00000312126:p.Gly52Ser		ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.G52S|ADCY4_ENST00000396747.3_5'UTR|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000554068.2_Missense_Mutation_p.G52S	p.G52S	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	2	267	-			52		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.154G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303339	0.81136	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.76316	-1.01;-1.01;-1.01	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.47455	D	0.000238	T	0.74329	0.3702	L	0.45137	1.4	0.80722	D	1	D;B	0.57571	0.98;0.043	P;B	0.48270	0.572;0.017	T	0.69217	-0.5203	10	0.10111	T	0.7	.	16.8266	0.85933	0.0:1.0:0.0:0.0	.	52;52	G3V258;Q8NFM4	.;ADCY4_HUMAN	S	52	ENSP00000312126:G52S;ENSP00000452250:G52S;ENSP00000393177:G52S	ENSP00000312126:G52S	G	-	1	0	0	ADCY4	23873545	23873545	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.722000	0.61958	2.838000	0.97847	0.655000	0.94253	GGC		0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		12.412801	5	5	10	10			4	12.820693	12.820693	1	0.800000	0	0	0	1	0	4	1	0.8
PROX1	5629	broad.mit.edu	37	1	214169914	214169914	+	Silent	SNP	G	G	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:214169914G>A	ENST00000366958.4	+	2	644	c.36G>A	c.(34-36)cgG>cgA	p.R12R	PROX1_ENST00000261454.4_Silent_p.R12R|PROX1_ENST00000435016.1_Silent_p.R12R|PROX1_ENST00000498508.2_Silent_p.R12R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	12	Interaction with RORG. {ECO:0000250|UniProtKB:P48437}.				aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCTTAAGCCGGCAAACCAAGA	0.498																																						ENST00000366958.4											0			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(34-36)cgG>cgA	prospero homeobox 1						103.0	88.0	93.0					1																	214169914		2203	4300	6503	SO:0001819	synonymous_variant	5629			aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214169914G>A	U44060	U44060	CCDS31021.1	CCDS31021.1	1q41	2011-06-20	2007-06-01		2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707	ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	"""Homeoboxes / PROS class"""	9459	9459	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601546	601546	"""prospero-related homeobox 1"""		"""prospero-related homeobox 1"""			8812486	8812486	Standard	Standard	NM_002763	NM_002763		Approved		uc001hkg.2	uc001hkg.2	Q92786	Q92786	OTTHUMG00000036946	OTTHUMG00000036946	ENST00000366958.4:c.36G>A	1.37:g.214169914G>A			PROX1_ENST00000498508.2_Silent_p.R12R|PROX1_ENST00000261454.4_Silent_p.R12R|PROX1_ENST00000435016.1_Silent_p.R12R	p.R12R	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	644	+			12		A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.36G>A	CCDS31021.1																																																																																									0.498	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		-6.226089	-4	-4	65	65	NM_002763		3	6.384125	6.384125	56	0.050847	0	0	0	1	0	3	56	0.050847
ZNF251	90987	broad.mit.edu	37	8	145947729	145947729	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145947729C>T	ENST00000292562.7	-	5	1591	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AAAGGCTTTGCCGCACTCATT	0.468																																						ENST00000292562.7											0			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(1315-1317)gGc>gAc	zinc finger protein 251						76.0	87.0	83.0					8																	145947729		2176	4285	6461	SO:0001583	missense	90987			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947729C>T	AK000435	AK000435	CCDS47944.1	CCDS47944.1	8q24.3	2013-01-08			2013-01-08			ENSG00000198169	ENSG00000198169	ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	13045	13045	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_138367	NM_138367		Approved		uc003zdv.4	uc003zdv.4	Q9BRH9	Q9BRH9	OTTHUMG00000165189	OTTHUMG00000165189	ENST00000292562.7:c.1316G>A	8.37:g.145947729C>T	ENSP00000292562:p.Gly439Asp		ZNF251_ENST00000524394.1_Intron	p.G439D	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1591	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		439		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1316G>A	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417212	0.62622	.	.	ENSG00000198169	ENST00000292562	T	0.01430	4.9	2.15	2.15	0.27550	2.15	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.21097	0.63	0.34570	D	0.713292	D	0.89917	1.0	D	0.69824	0.966	T	0.56238	-0.8012	9	0.87932	D	0	-3.6415	12.0295	0.53390	0.0:1.0:0.0:0.0	.	439	Q9BRH9	ZN251_HUMAN	D	439	ENSP00000292562:G439D	ENSP00000292562:G439D	G	-	2	0	0	ZNF251	145918538	145918538	0.000000	0.05858	0.920000	0.36463	0.958000	0.62258	0.430000	0.21428	1.521000	0.48983	0.563000	0.77884	GGC		0.468	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1		-38.639192	-2	-2	98	98	NM_138367		4	6.613292	6.613292	174	0.022472	0	0	0	1	0	4	174	0.022472
ZNF462	58499	broad.mit.edu	37	9	109691298	109691298	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:109691298G>A	ENST00000277225.5	+	3	5394	c.5105G>A	c.(5104-5106)tGt>tAt	p.C1702Y	ZNF462_ENST00000441147.2_Missense_Mutation_p.C547Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.C1702Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1702					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGTGCCCTGTGTGCCTACACC	0.572																																						ENST00000277225.5											0			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5104-5106)tGt>tAt	zinc finger protein 462						108.0	92.0	97.0					9																	109691298		2203	4300	6503	SO:0001583	missense	58499			transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691298G>A	AB058706	AB058706	CCDS35096.1	CCDS35096.1	9q31.3	2008-02-05			2008-02-05			ENSG00000148143	ENSG00000148143	ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	21684	21684	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_021224	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	uc004bcz.3	Q96JM2	Q96JM2	OTTHUMG00000020438	OTTHUMG00000020438	ENST00000277225.5:c.5105G>A	9.37:g.109691298G>A	ENSP00000277225:p.Cys1702Tyr		ZNF462_ENST00000457913.1_Missense_Mutation_p.C1702Y|ZNF462_ENST00000441147.2_Missense_Mutation_p.C547Y	p.C1702Y			Q96JM2	ZN462_HUMAN			3	5394	+			1702		Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.5105G>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455039	0.63290	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.26518	1.73;2.13;1.88;1.95	6.03	6.03	0.97812	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	T	0.30357	-0.9981	10	0.87932	D	0	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1702;1702	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	Y	1702;1702;585;547	ENSP00000277225:C1702Y;ENSP00000414570:C1702Y;ENSP00000363818:C585Y;ENSP00000397306:C547Y	ENSP00000277225:C1702Y	C	+	2	0	0	ZNF462	108731119	108731119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.434000	0.97515	2.861000	0.98227	0.655000	0.94253	TGT		0.572	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		24.066540	-4	-4	41	41	NM_021224		9	24.610125	24.610125	17	0.346154	0	0	0	1	0	9	17	0.346154
DGKK	139189	broad.mit.edu	37	X	50213356	50213356	+	RNA	SNP	C	C	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chrX:50213356C>G	ENST00000376025.2	-	0	381							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ggggccggctctgtggcaggt	0.667																																						ENST00000376025.2											0			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45							diacylglycerol kinase, kappa						54.0	68.0	64.0					X																	50213356		1825	4051	5876			139189			activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213356C>G	AB183864	AB183864	CCDS75980.1	CCDS75980.1	Xp11.22	2006-02-08			2006-02-08				ENSG00000274588		ENSG00000274588				32395	32395	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300837	300837						16210324	16210324	Standard	Standard	NM_001013742	NM_001013742		Approved		uc010njr.2	uc010njr.2	Q5KSL6	Q5KSL6				X.37:g.50213356C>G							Q5KSL6	DGKK_HUMAN			0	381	-	Ovarian(276;0.236)				B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																											0.667	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1		243.951886	34	34	307	307	NM_001013742		78	244.115711	244.115711	89	0.467066	0	0	0	1	0	78	89	0.467066
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		73.685294	1	1	113	113	NM_002072		24	74.378064	74.378064	38	0.387097	0	0	0	1	0	24	38	0.387097
PSG4	5672	broad.mit.edu	37	19	43708091	43708091	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr19:43708091T>A	ENST00000405312.3	-	2	614	c.377A>T	c.(376-378)aAg>aTg	p.K126M	PSG4_ENST00000433626.2_Missense_Mutation_p.K126M|PSG4_ENST00000244295.9_Missense_Mutation_p.K126M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	126	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCGCGTCGCTTTATGATGTG	0.507																																						ENST00000405312.3											0			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(376-378)aAg>aTg	pregnancy specific beta-1-glycoprotein 4						257.0	261.0	260.0					19																	43708091		2139	4273	6412	SO:0001583	missense	5672			defense response|female pregnancy	extracellular region		g.chr19:43708091T>A			CCDS33039.1, CCDS46093.1, CCDS62695.1	CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			2013-01-29			ENSG00000243137	ENSG00000243137	ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	9521	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	"""pregnancy-specific beta-1-glycoprotein 4"""	176393	176393						2783133	2783133	Standard	Standard	NM_002780	NM_002780		Approved		uc002ovy.4	uc002ovy.4	Q00888	Q00888	OTTHUMG00000151544	OTTHUMG00000151544	ENST00000405312.3:c.377A>T	19.37:g.43708091T>A	ENSP00000384770:p.Lys126Met		PSG4_ENST00000244295.9_Missense_Mutation_p.K126M|PSG4_ENST00000433626.2_Missense_Mutation_p.K126M	p.K126M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			2	614	-		Prostate(69;0.00682)	126	Ig-like V-type.	E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.377A>T	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	10.47	1.359904	0.24598	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.01599	4.74;4.74;4.74;4.74	1.65	0.528	0.17089	1.65	0.528	0.17089	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04003	0.0112	L	0.61218	1.895	0.09310	N	1	D;B;B	0.61080	0.989;0.452;0.006	P;B;B	0.52957	0.714;0.388;0.111	T	0.38929	-0.9638	9	0.66056	D	0.02	.	4.4499	0.11616	0.0:0.0:0.3501:0.6499	.	126;126;126	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	M	126;126;126;142	ENSP00000244295:K126M;ENSP00000384770:K126M;ENSP00000387864:K126M;ENSP00000388134:K142M	ENSP00000244295:K126M	K	-	2	0	0	PSG4	48399931	48399931	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.103000	0.10940	0.097000	0.17492	0.145000	0.16022	AAG		0.507	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1		221.084905	99	99	257	257	NM_213633		75	223.095233	223.095233	117	0.390625	0	0	0	1	0	75	117	0.390625
UBA6	55236	broad.mit.edu	37	4	68530982	68530982	+	Silent	SNP	A	A	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:68530982A>G	ENST00000322244.5	-	10	881	c.822T>C	c.(820-822)ggT>ggC	p.G274G	UBA6_ENST00000420827.2_Silent_p.G274G	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	274					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CTGTGGTGTCACCAATACTAA	0.299																																						ENST00000322244.5											0			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						c.(820-822)ggT>ggC	ubiquitin-like modifier activating enzyme 6						75.0	82.0	79.0					4																	68530982		2203	4296	6499	SO:0001819	synonymous_variant	55236			protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	g.chr4:68530982A>G	AK094164	AK094164	CCDS3516.1	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	"""Ubiquitin-like modifier activating enzymes"""	25581	25581	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	"""UBA6, ubiquitin-activating enzyme E1"""	611361	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	17580310	Standard	Standard	NM_018227	NM_018227		Approved	FLJ10808	uc003hdg.4	uc003hdg.4	A0AVT1	A0AVT1	OTTHUMG00000129299	OTTHUMG00000129299	ENST00000322244.5:c.822T>C	4.37:g.68530982A>G			UBA6_ENST00000420827.2_Silent_p.G274G	p.G274G	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN			10	881	-					A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Silent	SNP	ENST00000322244.5	37	c.822T>C	CCDS3516.1																																																																																									0.299	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2		94.239376	0	0	131	131	NM_018227		30	94.550788	94.550788	40	0.428571	0	0	0	1	0	30	40	0.428571
JAK1	3716	broad.mit.edu	37	1	65339052	65339052	+	Splice_Site	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr1:65339052C>T	ENST00000342505.4	-	5	732		c.e5+1			NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAACTTCCTACCTGAGCAAAC	0.502			Mis		ALL																																	ENST00000342505.4		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.e5+1	Janus kinase 1						87.0	91.0	90.0					1																	65339052		1946	4160	6106	SO:0001630	splice_region_variant	3716			interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65339052C>T	M64174	M64174	CCDS41346.1	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	ENSG00000162434	ENSG00000162434	2.7.10.1			6190	6190	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			147795	147795		JAK1B		JAK1B		1848670, 7698020	1848670, 7698020	Standard	Standard	NM_002227	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	uc001dbu.1	P23458	P23458	OTTHUMG00000009310	OTTHUMG00000009310	ENST00000342505.4:c.483+1G>A	1.37:g.65339052C>T					NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	5	732	-					Q59GQ2|Q9UD26	Splice_Site	SNP	ENST00000342505.4	37		CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989213	0.74589	.	.	ENSG00000162434	ENST00000342505	.	.	.	5.05	5.05	0.67936	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3102	0.94184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	JAK1	65111640	65111640	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.271000	0.78506	2.734000	0.93682	0.650000	0.86243	.		0.502	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1		22.828089	4	4	62	62	NM_002227	Intron	7	23.185194	23.185194	3	0.700000	0	0	0	1	0	7	3	0.7
USP15	9958	broad.mit.edu	37	12	62777866	62777866	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr12:62777866C>T	ENST00000280377.5	+	11	1314	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V	USP15_ENST00000353364.3_Missense_Mutation_p.A390V|USP15_ENST00000393654.3_Missense_Mutation_p.A394V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	419	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGTGGTTGCCGAAGAAGCC	0.348																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5											0			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(1255-1257)gCc>gTc	ubiquitin specific peptidase 15						104.0	102.0	103.0					12																	62777866		2202	4299	6501	SO:0001583	missense	9958			protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62777866C>T	AB011101	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08		2006-07-18	2005-08-08							"""Ubiquitin-specific peptidases"""	"""Ubiquitin-specific peptidases"""	12613	12613	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604731	604731	"""ubiquitin specific protease 15"""		"""ubiquitin specific protease 15"""			12838346	12838346	Standard	Standard	NM_001252078	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	uc001src.2	Q9Y4E8	Q9Y4E8	OTTHUMG00000170186	OTTHUMG00000170186	ENST00000280377.5:c.1256C>T	12.37:g.62777866C>T	ENSP00000280377:p.Ala419Val		USP15_ENST00000393654.3_Missense_Mutation_p.A394V|USP15_ENST00000353364.3_Missense_Mutation_p.A390V	p.A419V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	11	1314	+			419		Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1256C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645750	0.87958	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.30448	4.07;4.07;1.53	5.16	5.16	0.70880	5.16	5.16	0.70880	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.111049	0.64402	D	0.000008	T	0.61899	0.2384	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.65541	-0.6143	9	.	.	.	-14.3538	18.8461	0.92208	0.0:1.0:0.0:0.0	.	419;390	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	V	390;419;394	ENSP00000258123:A390V;ENSP00000280377:A419V;ENSP00000377264:A394V	.	A	+	2	0	0	USP15	61064133	61064133	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	7.651000	0.83577	2.690000	0.91761	0.655000	0.94253	GCC		0.348	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		74.963953	5	5	75	75	NM_006313		25	75.204879	75.204879	33	0.431034	0	0	0	1	0	25	33	0.431034
BCKDHB	594	broad.mit.edu	37	6	80816425	80816425	+	Silent	SNP	G	G	C			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr6:80816425G>C	ENST00000320393.6	+	1	62	c.15G>C	c.(13-15)gcG>gcC	p.A5A	BCKDHB_ENST00000369760.4_Silent_p.A5A|BCKDHB_ENST00000545529.1_Silent_p.A5A|BCKDHB_ENST00000356489.5_Silent_p.A5A	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	5					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CGGTTGTAGCGGCGGCTGCCG	0.726																																						ENST00000545529.1											0			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(13-15)gcG>gcC	branched chain keto acid dehydrogenase E1, beta polypeptide						4.0	6.0	5.0					6																	80816425		1963	3847	5810	SO:0001819	synonymous_variant	594			branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80816425G>C	M55575	M55575	CCDS4994.1	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123	ENSG00000083123	ENSG00000083123				987	987	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	"""maple syrup urine disease"""	248611	248611								Standard	Standard	NM_183050	NM_183050		Approved		uc003pje.2	uc003pje.2	P21953	P21953	OTTHUMG00000016430	OTTHUMG00000016430	ENST00000320393.6:c.15G>C	6.37:g.80816425G>C			BCKDHB_ENST00000320393.6_Silent_p.A5A|BCKDHB_ENST00000356489.5_Silent_p.A5A|BCKDHB_ENST00000369760.4_Silent_p.A5A	p.A5A			P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	1	43	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	5		Q5T2J3|Q9BQL0	Silent	SNP	ENST00000320393.6	37	c.15G>C	CCDS4994.1																																																																																									0.726	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2		7.476777	5	5	8	8	NM_000056		2	7.253522	7.253522	0	1.000000	0	0	0	1	0	2	0	1.0
NOP14	8602	broad.mit.edu	37	4	2951844	2951844	+	Missense_Mutation	SNP	C	C	T	rs145122268		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr4:2951844C>T	ENST00000314262.6	-	8	1147	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	NOP14_ENST00000502735.1_Missense_Mutation_p.G367R|NOP14_ENST00000398071.4_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000515194.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	367					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						GTGTCCTCCCCGCCTGAACTG	0.532																																						ENST00000416614.2											0			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						c.(1099-1101)Ggg>Agg	NOP14 nucleolar protein						292.0	286.0	288.0					4																	2951844		2203	4300	6503	SO:0001583	missense	8602			endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2951844C>T	AB000467	AB000467	CCDS33945.1	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269	ENSG00000087269	ENSG00000087269				16821	16821	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	"""NOP14 homolog (S. cerevisiae)"""	611526	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	9734812, 11694595	Standard	Standard	XR_241655	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	uc003ggj.1	P78316	P78316	OTTHUMG00000159911	OTTHUMG00000159911	ENST00000314262.6:c.1099G>A	4.37:g.2951844C>T	ENSP00000315674:p.Gly367Arg		NOP14_ENST00000502735.1_Missense_Mutation_p.G367R|NOP14_ENST00000314262.6_Missense_Mutation_p.G367R|NOP14_ENST00000398071.4_Missense_Mutation_p.G367R|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000515194.1_RNA	p.G367R			P78316	NOP14_HUMAN			8	1164	-			367		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1099G>A	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	5.098	0.203803	0.09704	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.19	-0.324	0.12706	5.19	-0.324	0.12706	.	2.457880	0.01324	N	0.011035	T	0.30603	0.0770	L	0.40543	1.245	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.002	T	0.44697	-0.9311	10	0.87932	D	0	-1.6283	11.8659	0.52493	0.0:0.6264:0.0:0.3736	.	160;367;367	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	R	367;367;367;367;266	ENSP00000405068:G367R;ENSP00000315674:G367R;ENSP00000427415:G367R;ENSP00000381146:G367R	ENSP00000315674:G367R	G	-	1	0	0	NOP14	2921642	2921642	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.015000	0.12634	-0.037000	0.13646	-1.865000	0.00557	GGG		0.532	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		204.885945	8	8	224	224	NM_003703		64	205.368308	205.368308	82	0.438356	0	0	0	1	0	64	82	0.438356
EMID1	129080	broad.mit.edu	37	22	29621189	29621189	+	Silent	SNP	G	G	T			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr22:29621189G>T	ENST00000404820.3	+	4	514	c.387G>T	c.(385-387)cgG>cgT	p.R129R	EMID1_ENST00000404755.3_Silent_p.R129R|EMID1_ENST00000334018.6_Silent_p.R129R|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	127						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGCGCTTCGGCCCACAGCCT	0.627																																						ENST00000334018.6											0			NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(385-387)cgG>cgT	EMI domain containing 1						99.0	92.0	94.0					22																	29621189		2203	4300	6503	SO:0001819	synonymous_variant	129080				collagen		g.chr22:29621189G>T	AJ416090	AJ416090	CCDS33630.1	CCDS33630.1	22q12.2	2009-08-04			2009-08-04			ENSG00000186998	ENSG00000186998	ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	"""EMI domain containing"""	18036	18036	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926	608926						12221002	12221002	Standard	Standard	NM_001267895	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	uc003aem.4	Q96A84	Q96A84	OTTHUMG00000151013	OTTHUMG00000151013	ENST00000404820.3:c.387G>T	22.37:g.29621189G>T			EMID1_ENST00000404820.3_Silent_p.R129R|EMID1_ENST00000404755.3_Silent_p.R129R|EMID1_ENST00000484039.1_3'UTR	p.R129R	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			4	575	+			127		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.387G>T																																																																																										0.627	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1		79.241591	22	22	77	77	NM_133455		26	79.473958	79.473958	34	0.433333	1	0	1.77063e-15	1	1.77063e-15	26	34	0.433333
GLB1L	79411	broad.mit.edu	37	2	220107630	220107630	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr2:220107630A>G	ENST00000295759.7	-	4	563	c.250T>C	c.(250-252)Tgg>Cgg	p.W84R	GLB1L_ENST00000392089.2_Missense_Mutation_p.W84R|STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409516.3_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409260.1_5'Flank|STK16_ENST00000409743.1_5'Flank|GLB1L_ENST00000497855.1_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.W84R|GLB1L_ENST00000409640.1_Missense_Mutation_p.W84R			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	84					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTAGTTCCAGGGCACATAA	0.537																																						ENST00000295759.7											0			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(250-252)Tgg>Cgg	galactosidase, beta 1-like						57.0	64.0	61.0					2																	220107630		2203	4300	6503	SO:0001583	missense	79411			carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220107630A>G			CCDS2437.1, CCDS74657.1	CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			2008-02-05			ENSG00000163521	ENSG00000163521	ENSG00000163521	ENSG00000163521				28129	28129	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12975309	12975309	Standard	Standard	XM_005246850	XM_005246850		Approved	MGC10771	uc002vkm.3	uc002vkm.3	Q6UWU2	Q6UWU2	OTTHUMG00000133133	OTTHUMG00000133133	ENST00000295759.7:c.250T>C	2.37:g.220107630A>G	ENSP00000295759:p.Trp84Arg		GLB1L_ENST00000409640.1_Missense_Mutation_p.W84R|GLB1L_ENST00000356283.3_Missense_Mutation_p.W84R|GLB1L_ENST00000392089.2_Missense_Mutation_p.W84R	p.W84R			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	563	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	84		Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.250T>C	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.931311	0.92389	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427	D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29	6.17	6.17	0.99709	6.17	6.17	0.99709	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99921	0.9963	H	0.98487	4.245	0.50171	D	0.999854	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96066	0.9042	10	0.87932	D	0	-9.9619	16.8222	0.85835	1.0:0.0:0.0:0.0	.	84;84	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	R	84	ENSP00000295759:W84R;ENSP00000386354:W84R;ENSP00000375939:W84R;ENSP00000348628:W84R;ENSP00000400738:W84R	ENSP00000295759:W84R	W	-	1	0	0	GLB1L	219815874	219815874	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	TGG		0.537	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2		-2.411768	43	43	88	88	NM_024506		3	6.888306	6.888306	44	0.063830	0	0	0	1	0	3	44	0.06383
DBN1	1627	broad.mit.edu	37	5	176886684	176886686	+	Intron	DEL	GAG	GAG	-			TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr5:176886684_176886686delGAG	ENST00000309007.5	-	11	1175				DBN1_ENST00000393563.4_Intron|DBN1_ENST00000512501.1_Intron|DBN1_ENST00000292385.5_Intron|DBN1_ENST00000393565.1_In_Frame_Del_p.337_338SS>S	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1						actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggaggaagaggaggaggagg	0.591																																						ENST00000393565.1											0			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25						c.(1009-1014)tcctct>tct	drebrin 1																																			SO:0001627	intron_variant	1627			actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176886684_176886686delGAG			CCDS4420.1, CCDS4421.1	CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			2008-02-05			ENSG00000113758	ENSG00000113758	ENSG00000113758	ENSG00000113758				2695	2695	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			126660	126660		D0S117E		D0S117E		8216329	8216329	Standard	Standard	NM_004395	NM_004395		Approved		uc003mgy.2	uc003mgy.2	Q16643	Q16643	OTTHUMG00000130856	OTTHUMG00000130856	ENST00000309007.5:c.956-415CTC>-	5.37:g.176886693_176886695delGAG			DBN1_ENST00000512501.1_Intron|DBN1_ENST00000309007.5_Intron|DBN1_ENST00000393563.4_Intron|DBN1_ENST00000292385.5_Intron	p.337_338SS>S			Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1126_1128	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	319		A8MV58|B2RBG0|Q9UFZ5	In_Frame_Del	DEL	ENST00000309007.5	37	c.1011_1013delCTC	CCDS4420.1																																																																																									0.591	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	.	.	3	3	19	19	NM_080881		2			4	0.33						2	4	0.33
CYC1	1537	broad.mit.edu	37	8	145151500	145151501	+	In_Frame_Ins	INS	-	-	ACTACT	rs562084132		TCGA-WC-A883-01A-12D-A39W-08	TCGA-WC-A883-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4ea3747-d36b-4e70-bf24-0a679bd37abe	ef20e111-9604-4286-a88d-4777529fb23d	g.chr8:145151500_145151501insACTACT	ENST00000318911.4	+	5	698_699	c.625_626insACTACT	c.(625-627)gac>gACTACTac	p.209_210insYY	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	209	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGGTGAGGACTACGTCTTC	0.604											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4											0			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(625-627)gac>gACTACTac	cytochrome c-1																																			SO:0001652	inframe_insertion	1537			respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151500_145151501insACTACT	BC001006	BC001006	CCDS6415.1	CCDS6415.1	8q24	2011-07-04			2011-07-04			ENSG00000179091	ENSG00000179091	ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	"""Mitochondrial respiratory chain complex / Complex III"""	2579	2579	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123980	123980								Standard	Standard	NM_001916	NM_001916		Approved	UQCR4	uc003zaz.4	uc003zaz.4	P08574	P08574	OTTHUMG00000165242	OTTHUMG00000165242	Exception_encountered	8.37:g.145151500_145151501insACTACT	ENSP00000317159:p.Asp209_Tyr210insTyrTyr	1692		p.209_210insYY	NM_001916.3	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	698_699	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		209	Cytochrome c.	Q5U062|Q6FHS7	In_Frame_Ins	INS	ENST00000318911.4	37	c.625_626insACTACT	CCDS6415.1																																																																																									0.604	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	.	.	13	13	82	82	NM_001916		9			142	0.06						9	142	0.06
