#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
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	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		87.383698	-35	-35	77	77	NM_002072		28	88.162471	88.162471	44	0.388889	0	0	0	1	0	28	44	0.388889
CEP89	84902	broad.mit.edu	37	19	33444541	33444541	+	Missense_Mutation	SNP	C	C	T	rs569909161	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:33444541C>T	ENST00000305768.5	-	4	560	c.472G>A	c.(472-474)Gct>Act	p.A158T	CEP89_ENST00000590597.2_Missense_Mutation_p.A158T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	158					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTGGCACAGCGTACAGGTCA	0.478													C|||	4	0.000798722	0.0	0.0	5008	,	,		17065	0.0		0.0	False		,,,				2504	0.0041					ENST00000305768.5											0			breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(472-474)Gct>Act	centrosomal protein 89kDa						426.0	460.0	448.0					19																	33444541		2203	4300	6503	SO:0001583	missense	84902				centrosome|spindle pole		g.chr19:33444541C>T	AL832158	AL832158	CCDS32987.1	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289		ENSG00000121289				25907	25907	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615470	615470	"""coiled-coil domain containing 123"""	CCDC123	"""coiled-coil domain containing 123"""	CCDC123		16395595	16395595	Standard	Standard	NM_032816	NM_032816		Approved	FLJ14640	uc002nty.3	uc002nty.3	Q96ST8	Q96ST8			ENST00000305768.5:c.472G>A	19.37:g.33444541C>T	ENSP00000306105:p.Ala158Thr		CEP89_ENST00000590597.2_Missense_Mutation_p.A158T	p.A158T	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			4	560	-					B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.472G>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351801	0.24512	.	.	ENSG00000121289	ENST00000305768	T	0.37235	1.21	5.12	1.75	0.24633	5.12	1.75	0.24633	.	0.965087	0.08559	N	0.927728	T	0.28366	0.0701	L	0.56769	1.78	0.09310	N	1	P;P;B	0.50819	0.939;0.938;0.451	B;B;B	0.36092	0.214;0.217;0.042	T	0.22382	-1.0218	10	0.48119	T	0.1	-0.3937	4.5944	0.12322	0.1748:0.6391:0.0:0.1861	.	129;158;158	Q8WUL5;Q96ST8-3;Q96ST8	.;.;CEP89_HUMAN	T	158	ENSP00000306105:A158T	ENSP00000306105:A158T	A	-	1	0	0	CEP89	38136381	38136381	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-0.467000	0.06664	0.242000	0.21303	0.591000	0.81541	GCT		0.478	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2		-90.046428	-46	-46	549	549	NM_032816		8	12.74316	12.743160	390	0.020101	0	0	0	1	0	8	390	0.020101
EPS8L2	64787	broad.mit.edu	37	11	722155	722155	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:722155C>T	ENST00000533256.1	+	13	1424	c.1049C>T	c.(1048-1050)cCt>cTt	p.P350L	EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	350					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCTTCGGGCCTCTGGACCTG	0.721																																						ENST00000533256.1											0			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13						c.(1048-1050)cCt>cTt	EPS8-like 2						17.0	19.0	19.0					11																	722155		2201	4297	6498	SO:0001583	missense	64787				cytoplasm		g.chr11:722155C>T	AF318331	AF318331	CCDS31328.1	CCDS31328.1	11p15.5	2008-02-05			2008-02-05				ENSG00000177106		ENSG00000177106				21296	21296	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614988	614988						12620401	12620401	Standard	Standard	NM_022772	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	uc001lqt.3	Q9H6S3	Q9H6S3			ENST00000533256.1:c.1049C>T	11.37:g.722155C>T	ENSP00000435585:p.Pro350Leu		EPS8L2_ENST00000318562.8_Missense_Mutation_p.P350L|EPS8L2_ENST00000526198.1_Missense_Mutation_p.P366L|EPS8L2_ENST00000530636.1_Missense_Mutation_p.P350L|AP006621.9_ENST00000527021.2_RNA	p.P350L			Q9H6S3	ES8L2_HUMAN		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1424	+		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	350		B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	Missense_Mutation	SNP	ENST00000533256.1	37	c.1049C>T	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	c	23.3	4.396184	0.83011	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.13	2.2	0.27929	3.13	2.2	0.27929	.	0.434143	0.21137	N	0.079544	T	0.39091	0.1065	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.12344	-1.0551	10	0.62326	D	0.03	-15.4899	9.2014	0.37260	0.0:0.8858:0.0:0.1142	.	366;350	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	L	350;350;350;366	ENSP00000320828:P350L;ENSP00000435585:P350L;ENSP00000436035:P350L;ENSP00000436230:P366L	ENSP00000320828:P350L	P	+	2	0	0	EPS8L2	712155	712155	0.995000	0.38212	0.998000	0.56505	0.992000	0.81027	5.022000	0.64078	0.670000	0.31165	0.486000	0.48141	CCT		0.721	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382344.1		17.143717	-5	-5	32	32	NM_022772		6	17.58667	17.586670	12	0.333333	0	0	0	1	0	6	12	0.333333
SEMA4A	64218	broad.mit.edu	37	1	156146412	156146412	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:156146412C>G	ENST00000368285.3	+	15	2177	c.1910C>G	c.(1909-1911)tCc>tGc	p.S637C	SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	637					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.S637F(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCTGTGATCTCCTACTGGGTG	0.577																																						ENST00000368285.3											1	Substitution - Missense(1)	NS(1)	breast(1)|ovary(2)|skin(2)	5						c.(1909-1911)tCc>tGc	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						101.0	106.0	104.0					1																	156146412		2203	4300	6503	SO:0001583	missense	64218			axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156146412C>G	AK022416	AK022416	CCDS1132.1, CCDS53378.1	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			2014-01-28			ENSG00000196189	ENSG00000196189	ENSG00000196189	ENSG00000196189		"""Semaphorins"""	"""Semaphorins"""	10729	10729	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607292	607292		SEMAB		SEMAB		7748561	7748561	Standard	Standard	NM_022367	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	uc009wrq.3	Q9H3S1	Q9H3S1	OTTHUMG00000014042	OTTHUMG00000014042	ENST00000368285.3:c.1910C>G	1.37:g.156146412C>G	ENSP00000357268:p.Ser637Cys		SEMA4A_ENST00000355014.2_Missense_Mutation_p.S637C|SEMA4A_ENST00000368286.2_Missense_Mutation_p.S505C|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S637C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S505C	p.S637C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			15	2177	+	Hepatocellular(266;0.158)		637		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.1910C>G	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630652	0.28978	.	.	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.01	5.01	0.66863	5.01	5.01	0.66863	.	0.676221	0.15501	N	0.259048	T	0.33352	0.0860	M	0.69823	2.125	0.31702	N	0.640558	B;B	0.32040	0.353;0.353	B;B	0.32762	0.152;0.152	T	0.40553	-0.9557	10	0.56958	D	0.05	.	10.9839	0.47510	0.1866:0.8134:0.0:0.0	.	505;637	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	C	637;637;505;599;599;505;637	ENSP00000347117:S637C;ENSP00000357268:S637C;ENSP00000357267:S505C;ENSP00000357269:S505C;ENSP00000357265:S637C	ENSP00000347117:S637C	S	+	2	0	0	SEMA4A	154413036	154413036	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	2.074000	0.41529	2.336000	0.79503	0.313000	0.20887	TCC		0.577	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2		39.363146	-33	-33	41	41	NM_022367		13	40.084633	40.084633	24	0.351351	0	0	0	1	0	13	24	0.351351
C3	718	broad.mit.edu	37	19	6684417	6684417	+	Missense_Mutation	SNP	A	A	G	rs146172605	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:6684417A>G	ENST00000245907.6	-	33	4246	c.4154T>C	c.(4153-4155)aTc>aCc	p.I1385T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1385					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GATCTCAAGGATCATAGTGTT	0.448																																						ENST00000245907.6											0			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4153-4155)aTc>aCc	complement component 3						140.0	140.0	140.0					19																	6684417		2203	4300	6503	SO:0001583	missense	718			complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6684417A>G	J04763	J04763	CCDS32883.1	CCDS32883.1	19p13.3-p13.2	2014-09-17			2014-09-17			ENSG00000125730	ENSG00000125730	ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	"""Complement system"", ""Endogenous ligands"""	1318	1318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700	120700								Standard	Standard	NM_000064	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	uc002mfm.3	P01024	P01024	OTTHUMG00000150335	OTTHUMG00000150335	ENST00000245907.6:c.4154T>C	19.37:g.6684417A>G	ENSP00000245907:p.Ile1385Thr			p.I1385T	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	33	4246	-			1385		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.4154T>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	A	0.831	-0.745322	0.03065	.	.	ENSG00000125730	ENST00000245907	T	0.28666	1.6	5.05	0.216	0.15258	5.05	0.216	0.15258	Alpha-macroglobulin, receptor-binding (2);	1.727610	0.02632	N	0.104516	T	0.16428	0.0395	N	0.20685	0.6	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.11867	-1.0570	10	0.07482	T	0.82	.	2.4924	0.04614	0.4546:0.0:0.196:0.3494	.	1385	P01024	CO3_HUMAN	T	1385	ENSP00000245907:I1385T	ENSP00000245907:I1385T	I	-	2	0	0	C3	6635417	6635417	0.004000	0.15560	0.203000	0.23512	0.245000	0.25701	-0.080000	0.11339	0.314000	0.23086	0.473000	0.43528	ATC		0.448	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2		118.463833	-9	-9	110	110	NM_000064		37	118.828439	118.828439	49	0.430233	0	0	0	1	0	37	49	0.430233
AADACL4	343066	broad.mit.edu	37	1	12711246	12711246	+	Silent	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:12711246C>T	ENST00000376221.1	+	2	273	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	91						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGGTGACCGACCTGCGTTTTG	0.493																																						ENST00000376221.1											0			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(271-273)gaC>gaT	arylacetamide deacetylase-like 4						94.0	92.0	93.0					1																	12711246		2203	4300	6503	SO:0001819	synonymous_variant	343066				integral to membrane	carboxylesterase activity	g.chr1:12711246C>T			CCDS30590.1	CCDS30590.1	1p36.21	2010-12-14			2010-12-14			ENSG00000204518	ENSG00000204518	ENSG00000204518	ENSG00000204518				32038	32038	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	XM_006710608	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	uc001auf.3	Q5VUY2	Q5VUY2	OTTHUMG00000001889	OTTHUMG00000001889	ENST00000376221.1:c.273C>T	1.37:g.12711246C>T				p.D91D	NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	273	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	91			Silent	SNP	ENST00000376221.1	37	c.273C>T	CCDS30590.1																																																																																									0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		124.661547	-42	-42	120	120	NM_001013630		41	124.945118	124.945118	52	0.440860	0	0	0	1	0	41	52	0.44086
PLD5	200150	broad.mit.edu	37	1	242264008	242264008	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:242264008C>T	ENST00000536534.2	-	9	1557	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	PLD5_ENST00000427495.1_Missense_Mutation_p.R377H|PLD5_ENST00000442594.2_Missense_Mutation_p.R347H			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	439	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTACTTGTTGCGATTTAACCT	0.448																																						ENST00000536534.2											0			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(1315-1317)cGc>cAc	phospholipase D family, member 5						242.0	205.0	218.0					1																	242264008		2203	4300	6503	SO:0001583	missense	200150				integral to membrane	catalytic activity	g.chr1:242264008C>T	AK098092	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			2008-02-05			ENSG00000180287	ENSG00000180287	ENSG00000180287	ENSG00000180287				26879	26879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001195811	NM_001195811		Approved	FLJ40773	uc001hzn.2	uc001hzn.2	Q8N7P1	Q8N7P1	OTTHUMG00000039867	OTTHUMG00000039867	ENST00000536534.2:c.1316G>A	1.37:g.242264008C>T	ENSP00000440896:p.Arg439His		PLD5_ENST00000442594.2_Missense_Mutation_p.R347H|PLD5_ENST00000427495.1_Missense_Mutation_p.R377H	p.R439H			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		9	1557	-	Melanoma(84;0.242)			PLD phosphodiesterase 2.	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1316G>A	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	5.529	0.282617	0.10458	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.00476	7.15;7.15;7.15	5.5	5.5	0.81552	5.5	5.5	0.81552	Phospholipase D/Transphosphatidylase (1);	0.221081	0.48286	D	0.000189	T	0.00178	0.0005	N	0.01446	-0.86	0.41076	D	0.985485	B;B;B	0.32425	0.371;0.132;0.208	B;B;B	0.21708	0.036;0.005;0.036	T	0.66626	-0.5876	10	0.02654	T	1	-14.9538	17.1809	0.86855	0.0:1.0:0.0:0.0	.	347;439;377	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	H	377;347;439	ENSP00000401285:R377H;ENSP00000414188:R347H;ENSP00000440896:R439H	ENSP00000401285:R377H	R	-	2	0	0	PLD5	240330631	240330631	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	3.645000	0.54389	2.578000	0.87016	0.650000	0.86243	CGC		0.448	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		51.866315	-29	-29	77	77	NM_152666		17	52.363772	52.363772	27	0.386364	0	0	0	1	0	17	27	0.386364
PGR	5241	broad.mit.edu	37	11	100999546	100999546	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr11:100999546C>T	ENST00000325455.5	-	1	1709	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A86T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	86	Modulating, Pro-Rich.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CTGGAATATGCGCCCTCCACG	0.602																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5											0			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(256-258)Gca>Aca	progesterone receptor						69.0	62.0	65.0					11																	100999546		2203	4300	6503	SO:0001583	missense	5241			cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100999546C>T	M15716	M15716	CCDS8310.1, CCDS59229.1	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			2013-01-16			ENSG00000082175	ENSG00000082175	ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	"""Nuclear hormone receptors"""	8910	8910	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607311	607311								Standard	Standard	NM_000926	NM_000926		Approved	PR, NR3C3	uc001pgh.2	uc001pgh.2	P06401	P06401	OTTHUMG00000167531	OTTHUMG00000167531	ENST00000325455.5:c.256G>A	11.37:g.100999546C>T	ENSP00000325120:p.Ala86Thr		PGR_ENST00000263463.5_Missense_Mutation_p.A86T|PGR_ENST00000534013.1_Intron	p.A86T	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	1	1709	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	86	Modulating, Pro-Rich.	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.256G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515342	0.27123	.	.	ENSG00000082175	ENST00000325455;ENST00000263463;ENST00000537623	T;T	0.08984	3.03;3.03	4.2	2.24	0.28232	4.2	2.24	0.28232	.	0.965129	0.08471	N	0.940932	T	0.09247	0.0228	M	0.62723	1.935	0.09310	N	1	P;P	0.40681	0.727;0.727	B;B	0.32211	0.105;0.142	T	0.29058	-1.0024	10	0.62326	D	0.03	.	7.2339	0.26059	0.1994:0.4663:0.3343:0.0	.	86;86	Q8TDS3;P06401	.;PRGR_HUMAN	T	86	ENSP00000325120:A86T;ENSP00000263463:A86T	ENSP00000263463:A86T	A	-	1	0	0	PGR	100504756	100504756	0.000000	0.05858	0.049000	0.19019	0.126000	0.20510	-0.089000	0.11180	0.367000	0.24454	-0.397000	0.06425	GCA		0.602	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		-3.616466	-15	-15	43	43			3	6.778634	6.778634	48	0.058824	0	0	0	1	0	3	48	0.058824
PSG6	5675	broad.mit.edu	37	19	43411102	43411102	+	Silent	SNP	G	G	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr19:43411102G>T	ENST00000292125.2	-	5	1256	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000187910.2_Silent_p.I404I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	404	Ig-like C2-type 3.		I -> S (in dbSNP:rs1065525).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGGATTTGGAGATTTCCTTGC	0.453																																						ENST00000187910.2											0			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1210-1212)atC>atA	pregnancy specific beta-1-glycoprotein 6						194.0	200.0	198.0					19																	43411102		2201	4299	6500	SO:0001819	synonymous_variant	5675						g.chr19:43411102G>T			CCDS12613.1, CCDS33038.1	CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			2013-01-29			ENSG00000170848	ENSG00000170848	ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	9523	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			176395	176395						1690992	1690992	Standard	Standard	NM_002782	NM_002782		Approved				Q00889	Q00889	OTTHUMG00000151127	OTTHUMG00000151127	ENST00000292125.2:c.1212C>A	19.37:g.43411102G>T			PSG6_ENST00000402603.4_Silent_p.I311I|PSG6_ENST00000292125.2_Silent_p.I404I	p.I404I	NM_001031850.3	NP_001027020.1					5	1277	-		Prostate(69;0.00899)			O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	c.1212C>A	CCDS12613.1																																																																																									0.453	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1		179.372382	-66	-66	239	239	NM_002782		63	182.079552	182.079552	109	0.366279	1	0	2.03366e-24	1	2.03366e-24	63	109	0.366279
ALPI	248	broad.mit.edu	37	2	233323457	233323457	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr2:233323457C>T	ENST00000295463.3	+	10	1376	c.1299C>T	c.(1297-1299)agC>agT	p.S433S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	433					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGAGCGAGAGCGGTGAGTGAG	0.647																																						ENST00000295463.3											0			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(1297-1299)agC>agT	alkaline phosphatase, intestinal						57.0	54.0	55.0					2																	233323457		2203	4300	6503	SO:0001630	splice_region_variant	248			phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233323457C>T	M15694	M15694	CCDS2492.1	CCDS2492.1	2q37.1	2008-02-05			2008-02-05			ENSG00000163295	ENSG00000163295	ENSG00000163295	ENSG00000163295	3.1.3.1			437	437	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			171740	171740						3468508, 3469665	3468508, 3469665	Standard	Standard	NM_001631	NM_001631		Approved		uc002vst.4	uc002vst.4	P09923	P09923	OTTHUMG00000133258	OTTHUMG00000133258	ENST00000295463.3:c.1300+1C>T	2.37:g.233323457C>T				p.S433S	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	10	1376	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	433		B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Splice_Site	SNP	ENST00000295463.3	37	c.1299C>T	CCDS2492.1																																																																																									0.647	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2		45.220140	12	12	50	50	NM_001631	Silent	15	45.375705	45.375705	20	0.428571	0	0	0	1	0	15	20	0.428571
PHF7	51533	broad.mit.edu	37	3	52443593	52443593	+	5'Flank	SNP	G	G	C			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr3:52443593G>C	ENST00000327906.3	+	0	0				BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*|BAP1_ENST00000460680.1_Nonsense_Mutation_p.Y33*|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TCTGAAGGTCGTAGATCTCCT	0.612																																						ENST00000460680.1											0			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(97-99)taC>taG	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						221.0	230.0	227.0					3																	52443593		2203	4300	6503	SO:0001631	upstream_gene_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52443593G>C	AY014283	AF045581	CCDS2854.1, CCDS2855.1	CCDS2853.1	3p21.31	2013-01-28			2014-09-17			ENSG00000010318	ENSG00000010318	ENSG00000163930	ENSG00000163930		"""Zinc fingers, PHD-type"""		18458	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				603089						11042152, 11829468	9528852	Standard	Standard	NM_016483	NM_004656		Approved	NYD-SP6, HSPC226	uc003ddy.3	uc003ddx.4	Q9BWX1	Q92560	OTTHUMG00000158495	OTTHUMG00000158392		3.37:g.52443593G>C	Exception_encountered		BAP1_ENST00000296288.5_Nonsense_Mutation_p.Y33*	p.Y33*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	3	570	-			33		K4DI82	Nonsense_Mutation	SNP	ENST00000327906.3	37	c.99C>G	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915801	0.92178	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	4.97	3.82	0.43975	4.97	3.82	0.43975	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7504	9.8713	0.41175	0.9174:0.0:0.0826:0.0	.	.	.	.	X	33	.	ENSP00000296288:Y33X	Y	-	3	2	2	BAP1	52418633	52418633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.702000	0.54800	0.761000	0.33130	-0.302000	0.09304	TAC		0.612	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		205.658681	-4	-4	277	277	NM_016483		59	209.468362	209.468362	22	0.728395	0	0	0	1	0	59	22	0.728395
TFDP3	51270	broad.mit.edu	37	X	132351713	132351713	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chrX:132351713T>C	ENST00000310125.4	-	1	663	c.575A>G	c.(574-576)aAc>aGc	p.N192S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	192	Involved in negatively regulating E2F activity.				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CTGAGCCGAGTTGGTGGTCAG	0.433																																						ENST00000310125.4											0			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(574-576)aAc>aGc	transcription factor Dp family, member 3						105.0	96.0	99.0					X																	132351713		2203	4300	6503	SO:0001583	missense	51270				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351713T>C	AF219119	AF219119	CCDS14636.2	CCDS14636.2	Xq26.2	2009-03-25			2009-03-25			ENSG00000183434	ENSG00000183434	ENSG00000183434	ENSG00000183434				24603	24603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772	300772						12097419	12097419	Standard	Standard	NM_016521	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	uc004exb.1	Q5H9I0	Q5H9I0	OTTHUMG00000022433	OTTHUMG00000022433	ENST00000310125.4:c.575A>G	X.37:g.132351713T>C	ENSP00000385461:p.Asn192Ser			p.N192S	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	663	-	Acute lymphoblastic leukemia(192;0.000127)		192	Involved in negatively regulating E2F activity.	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.575A>G	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	t	4.023	0.001782	0.07819	.	.	ENSG00000183434	ENST00000310125	T	0.25912	1.77	0.208	-0.415	0.12355	0.208	-0.415	0.12355	Winged helix-turn-helix transcription repressor DNA-binding (1);	.	.	.	.	T	0.13030	0.0316	N	0.17631	0.505	0.58432	D	0.999998	B	0.31290	0.318	B	0.31191	0.125	T	0.15435	-1.0437	9	0.45353	T	0.12	.	4.1341	0.10162	0.0:0.0:0.3486:0.6514	.	192	Q5H9I0	TFDP3_HUMAN	S	192	ENSP00000385461:N192S	ENSP00000385461:N192S	N	-	2	0	0	TFDP3	132179379	132179379	1.000000	0.71417	0.010000	0.14722	0.010000	0.07245	3.782000	0.55401	-1.079000	0.03113	-1.113000	0.02065	AAC		0.433	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1		46.647601	-13	-13	54	54	NM_016521		14	46.710673	46.710673	17	0.451613	0	0	0	1	0	14	17	0.451613
KAT6A	7994	broad.mit.edu	37	8	41790122	41790146	+	Frame_Shift_Del	DEL	CTGCTGGTGAGCAGCCGCAGAGGGC	CTGCTGGTGAGCAGCCGCAGAGGGC	-	rs140666969|rs145754397|rs181712540	byFrequency	TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	ENST00000396930.3	-	18	6135_6159	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	c.(5590-5616)ctgccctctgcggctgctcaccagcagfs	p.LPSAAAHQQ1864fs	KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1864					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CATACAGCTGCTGCTGGTGAGCAGCCGCAGAGGGCAGTGGCGCAG	0.587																																						ENST00000396930.3											0										c.(5590-5616)ctgccctctgcggctgctcaccagcagfs	K(lysine) acetyltransferase 6A																																			SO:0001589	frameshift_variant	7994			histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	U47742	U47742	CCDS6124.1	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	13013	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	"""Monocytic leukemia zinc finger protein"""	601408	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	8849440, 8782817	Standard	Standard	NM_001099412	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	uc003xon.4	Q92794	Q92794	OTTHUMG00000150453	OTTHUMG00000150453	ENST00000396930.3:c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	8.37:g.41790122_41790146delCTGCTGGTGAGCAGCCGCAGAGGGC	ENSP00000380136:p.Leu1864fs		KAT6A_ENST00000265713.2_Frame_Shift_Del_p.LPSAAAHQQ1864fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.LPSAAAHQQ1864fs	p.LPSAAAHQQ1864fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	6135_6159	-			1864		Q76L81	Frame_Shift_Del	DEL	ENST00000396930.3	37	c.5592_5616delGCCCTCTGCGGCTGCTCACCAGCAG	CCDS6124.1																																																																																									0.587	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	.	.	5	5	26	26	NM_006766		5			2	0.71						5	2	0.71
RPL11	6135	broad.mit.edu	37	1	24019228	24019229	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-V4-A9F1-01A-11D-A39W-08	TCGA-V4-A9F1-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f28a92d-40fe-4699-a7ab-253233a92f59	6ce50213-b8fe-4c42-9f33-4927d26489a7	g.chr1:24019228_24019229insAG	ENST00000374550.3	+	2	181_182	c.136_137insAG	c.(136-138)cagfs	p.Q46fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	46					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCTCACAGGGCAGACCCCTGTG	0.535																																						ENST00000374550.3											0			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(136-138)cagfs	ribosomal protein L11																																			SO:0001589	frameshift_variant	6135			endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24019228_24019229insAG	L05092	L05092	CCDS238.1	CCDS238.1	1p36.1-p35	2011-04-06			2011-04-06			ENSG00000142676	ENSG00000142676	ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	"""L ribosomal proteins"""	10301	10301	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604175	604175						9582194, 10343117	9582194, 10343117	Standard	Standard	NM_000975	NM_000975		Approved	L11	uc001bhk.3	uc001bhk.3	P62913	P62913	OTTHUMG00000002926	OTTHUMG00000002926	ENST00000374550.3:c.137_138dupAG	1.37:g.24019229_24019230dupAG	ENSP00000363676:p.Gln46fs		RPL11_ENST00000482370.1_3'UTR	p.Q46fs	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	2	181_182	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	46		P25121|P39026|Q8TDH2|Q9Y674	Frame_Shift_Ins	INS	ENST00000374550.3	37	c.136_137insAG	CCDS238.1																																																																																									0.535	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	.	.	-14	-14	115	115	NM_000975		47			66	0.41						47	66	0.41
