#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
SPEN	23013	broad.mit.edu	37	1	16259500	16259500	+	Silent	SNP	G	G	A	rs374329428		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:16259500G>A	ENST00000375759.3	+	11	6969	c.6765G>A	c.(6763-6765)gcG>gcA	p.A2255A		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2255	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGCACAGGCGCTGCAGCCTT	0.537																																						ENST00000375759.3											0			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6763-6765)gcG>gcA	spen family transcriptional repressor	A		1,4405	2.1+/-5.4	0,1,2202	83.0	90.0	88.0		6765	0.7	0.0	1		88	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2255/3665	16259500	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23013			interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259500G>A			CCDS164.1	CCDS164.1	1p36	2013-10-17	2013-10-17		2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526	ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	17575	17575	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613484	613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""		"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	10451362, 11331609	Standard	Standard	NM_015001	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	uc001axk.1	Q96T58	Q96T58	OTTHUMG00000009376	OTTHUMG00000009376	ENST00000375759.3:c.6765G>A	1.37:g.16259500G>A				p.A2255A	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6969	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2255	Interaction with MSX2 (By similarity).|RID.	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.6765G>A	CCDS164.1																																																																																									0.537	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		-25.232431	-23	-23	105	105	NM_015001		4	6.924838	6.924838	129	0.030075	0	0	0	1	0	4	129	0.030075
NACA	4666	broad.mit.edu	37	12	57113149	57113149	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr12:57113149G>A	ENST00000454682.1	-	3	2446	c.2165C>T	c.(2164-2166)gCt>gTt	p.A722V	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	722	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CACTAAGGTAGCCAGAGGAGC	0.512			T	BCL6	NHL																																	ENST00000454682.1		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2164-2166)gCt>gTt	nascent polypeptide-associated complex alpha subunit						29.0	27.0	28.0					12																	57113149		1568	3582	5150	SO:0001583	missense	4666			interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57113149G>A	X80909	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531	ENSG00000196531	ENSG00000196531				7629	7629	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601234	601234	"""nascent-polypeptide-associated complex alpha polypeptide"""		"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	8047162	Standard	Standard	NM_001113202	NM_001113202		Approved	NACA1	uc001sma.2	uc001sma.2	E9PAV3	E9PAV3			ENST00000454682.1:c.2165C>T	12.37:g.57113149G>A	ENSP00000403817:p.Ala722Val		NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	p.A722V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	2446	-			0			Missense_Mutation	SNP	ENST00000454682.1	37	c.2165C>T		.	.	.	.	.	.	.	.	.	.	G	10.76	1.440380	0.25900	.	.	ENSG00000196531	ENST00000454682	T	0.52983	0.64	3.33	3.33	0.38152	3.33	3.33	0.38152	.	.	.	.	.	T	0.30947	0.0781	.	.	.	0.09310	N	1	B	0.30068	0.267	B	0.25291	0.059	T	0.10613	-1.0622	7	.	.	.	.	10.531	0.44977	0.0:0.0:1.0:0.0	.	722	E9PAV3	.	V	722	ENSP00000403817:A722V	.	A	-	2	0	0	NACA	55399416	55399416	0.000000	0.05858	0.002000	0.10522	0.077000	0.17291	0.069000	0.14552	1.578000	0.49821	0.449000	0.29647	GCT		0.512	NACA-201	KNOWN	basic	protein_coding	protein_coding			28.677330	-7	-7	21	21	NM_005594		9	28.808411	28.808411	6	0.600000	0	0	0	1	0	9	6	0.6
CYSLTR2	57105	broad.mit.edu	37	13	49281339	49281339	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:49281339T>A	ENST00000282018.3	+	1	389	c.386T>A	c.(385-387)cTg>cAg	p.L129Q		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	129					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTTATTTCCTGACCGTGCTG	0.468																																						ENST00000282018.3											0			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(385-387)cTg>cAg	cysteinyl leukotriene receptor 2						209.0	201.0	204.0					13																	49281339		2203	4300	6503	SO:0001583	missense	57105			immune response	integral to membrane|plasma membrane		g.chr13:49281339T>A	AB038269	AB038269	CCDS9412.1	CCDS9412.1	13q14.2	2012-08-10			2012-08-10			ENSG00000152207	ENSG00000152207	ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	"""GPCR / Class A : Leukotriene receptors"""	18274	18274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605666	605666						10913337, 1085123	10913337, 1085123	Standard	Standard	NM_020377	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	uc001vck.2	Q9NS75	Q9NS75	OTTHUMG00000016906	OTTHUMG00000016906	ENST00000282018.3:c.386T>A	13.37:g.49281339T>A	ENSP00000282018:p.Leu129Gln			p.L129Q	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	389	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	129		Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.386T>A	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679001	0.88542	.	.	ENSG00000152207	ENST00000282018	D	0.81579	-1.51	6.08	6.08	0.98989	6.08	6.08	0.98989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000066	D	0.93756	0.8004	H	0.97783	4.075	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.95820	0.8849	10	0.87932	D	0	.	15.825	0.78698	0.0:0.0:0.0:1.0	.	129	Q9NS75	CLTR2_HUMAN	Q	129	ENSP00000282018:L129Q	ENSP00000282018:L129Q	L	+	2	0	0	CYSLTR2	48179340	48179340	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.004000	0.88535	2.333000	0.79357	0.533000	0.62120	CTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		257.200558	40	40	193	193			83	258.325435	258.325435	115	0.419192	0	0	0	1	0	83	115	0.419192
ASIC2	40	broad.mit.edu	37	17	32483180	32483180	+	Silent	SNP	C	C	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr17:32483180C>T	ENST00000359872.6	-	1	1133	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	124					central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597																																						ENST00000359872.6											0										c.(370-372)ccG>ccA	acid-sensing (proton-gated) ion channel 2						81.0	92.0	88.0					17																	32483180		2161	4264	6425	SO:0001819	synonymous_variant	40			central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:32483180C>T	AL834182	AL834182	CCDS11276.1, CCDS42296.1	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	99	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""degenerin"""	"""degenerin"""	601784	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	8921408	Standard	Standard	NM_183377	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	uc002hhu.3	Q16515	Q16515	OTTHUMG00000132885	OTTHUMG00000132885	ENST00000359872.6:c.372G>A	17.37:g.32483180C>T				p.P124P	NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN			1	1133	-			124		E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.372G>A	CCDS42296.1																																																																																									0.597	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1		93.113109	8	8	88	88	NM_183377, NM_001094		31	93.829402	93.829402	47	0.397436	0	0	0	1	0	31	47	0.397436
CEP164	22897	broad.mit.edu	37	11	117267963	117267963	+	Silent	SNP	G	G	A	rs149964584		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:117267963G>A	ENST00000278935.3	+	27	3582	c.3435G>A	c.(3433-3435)gcG>gcA	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGCCAGTGCGCAGGAGGTGG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18970	0.001		0.0	False		,,,				2504	0.0					ENST00000278935.3											0			breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3433-3435)gcG>gcA	centrosomal protein 164kDa						40.0	38.0	39.0					11																	117267963		2201	4296	6497	SO:0001819	synonymous_variant	22897			cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117267963G>A	AB028975	AB028975	CCDS31683.1	CCDS31683.1	11q23.3	2014-02-20			2014-02-20			ENSG00000110274	ENSG00000110274	ENSG00000110274	ENSG00000110274				29182	29182	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614848	614848						10470851, 14654843	10470851, 14654843	Standard	Standard	NM_014956	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	uc001prc.3	Q9UPV0	Q9UPV0	OTTHUMG00000167070	OTTHUMG00000167070	ENST00000278935.3:c.3435G>A	11.37:g.117267963G>A			CEP164_ENST00000533706.1_3'UTR	p.A1145A	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	27	3582	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1145		Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.3435G>A	CCDS31683.1																																																																																									0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		-0.505416	-15	-15	46	46	NM_014956		3	6.640689	6.640689	36	0.076923	0	0	0	1	0	3	36	0.076923
PCNT	5116	broad.mit.edu	37	21	47845774	47845774	+	Silent	SNP	C	C	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr21:47845774C>T	ENST00000359568.5	+	33	7316	c.7209C>T	c.(7207-7209)agC>agT	p.S2403S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2403					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGACGAGAGCCACCAGATCC	0.637																																						ENST00000359568.5											0			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7207-7209)agC>agT	pericentrin						82.0	80.0	81.0					21																	47845774		2203	4300	6503	SO:0001819	synonymous_variant	5116			cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47845774C>T	AB007862	AB007862	CCDS33592.1	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	ENSG00000160299	ENSG00000160299				16068	16068	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	"""kendrin"", ""Seckel syndrome 4"""	605925	605925	"""pericentrin 2 (kendrin)"""	PCNT2	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	8812505, 9455477	Standard	Standard	NM_006031	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	uc002zji.4	O95613	O95613	OTTHUMG00000090665	OTTHUMG00000090665	ENST00000359568.5:c.7209C>T	21.37:g.47845774C>T			PCNT_ENST00000480896.1_3'UTR	p.S2403S	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			33	7316	+	Breast(49;0.112)		2403		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.7209C>T	CCDS33592.1																																																																																									0.637	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		-12.979379	-11	-11	94	94	NM_006031		4	7.570087	7.570087	88	0.043478	0	0	0	1	0	4	88	0.043478
RAD54L2	23132	ucsc.edu	37	3	51696598	51696598	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:51696598G>T	ENST00000409535.2	+	22	3691	c.3566G>T	c.(3565-3567)cGg>cTg	p.R1189L	RAD54L2_ENST00000296477.3_Missense_Mutation_p.R883L	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1189						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCTGCTGCCCGGGAATCCCGT	0.647																																																	0																	42.0	47.0	45.0					3																	51696598		2203	4300	6503	SO:0001583	missense	23132							AB018352	AB018352	CCDS33765.2	CCDS33765.2	3p21.2	2006-01-17			2006-01-17			ENSG00000164080	ENSG00000164080	ENSG00000164080	ENSG00000164080				29123	29123	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										9872452	9872452	Standard	Standard	NM_015106	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	uc011bdt.2	Q9Y4B4	Q9Y4B4	OTTHUMG00000152936	OTTHUMG00000152936	ENST00000409535.2:c.3566G>T	3.37:g.51696598G>T	ENSP00000386520:p.Arg1189Leu																	Q8TB57|Q9BV54	Missense_Mutation	SNP	ENST00000409535.2	37		CCDS33765.2	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005907	0.54254	.	.	ENSG00000164080	ENST00000409535;ENST00000296477	D;D	0.93763	-3.19;-3.28	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.250591	0.33161	N	0.005205	D	0.86590	0.5969	N	0.19112	0.55	0.47737	D	0.999502	P;P	0.44690	0.841;0.662	B;B	0.33196	0.159;0.087	D	0.87934	0.2712	10	0.44086	T	0.13	-14.3883	17.7973	0.88577	0.0:0.0:1.0:0.0	.	1189;778	Q9Y4B4;B3KV54	ARIP4_HUMAN;.	L	1189;883	ENSP00000386520:R1189L;ENSP00000296477:R883L	ENSP00000296477:R883L	R	+	2	0	0	RAD54L2	51671638	51671638	0.937000	0.31787	1.000000	0.80357	0.958000	0.62258	2.785000	0.47782	2.435000	0.82474	0.563000	0.77884	CGG		0.647	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2			-11	-11	68	68	NM_015106		4			29							4	29	
CFAP57	149465	broad.mit.edu	37	1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	rs372200685		TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:43663300G>A	ENST00000372492.4	+	7	1523	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	WDR65_ENST00000528956.1_Missense_Mutation_p.R400H|RNA5SP46_ENST00000362370.1_RNA	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		400								p.R400H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458																																						ENST00000372492.4											1	Substitution - Missense(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1198-1200)cGc>cAc	WD repeat domain 65	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	180.0	153.0	162.0		1199,1199,1199	5.8	1.0	1		162	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	400/699,400/699,400/699	43663300	1,13005	2203	4300	6503	SO:0001583	missense	149465						g.chr1:43663300G>A																																																	ENST00000372492.4:c.1199G>A	1.37:g.43663300G>A	ENSP00000361570:p.Arg400His		WDR65_ENST00000528956.1_Missense_Mutation_p.R400H	p.R400H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN			7	1523	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	400		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.1199G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.497360	0.96355	0.0	1.16E-4	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.39997	1.05;3.58	5.76	5.76	0.90799	5.76	5.76	0.90799	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.75085	2.285	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.57400	-0.7818	10	0.15499	T	0.54	.	19.9634	0.97258	0.0:0.0:1.0:0.0	.	400;400	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	H	400	ENSP00000361570:R400H;ENSP00000435310:R400H	ENSP00000361570:R400H	R	+	2	0	0	WDR65	43435887	43435887	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.209000	0.95087	2.721000	0.93114	0.563000	0.77884	CGC		0.458	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1		-20.704491	-23	-23	113	113			4	6.948021	6.948021	113	0.034188	0	0	0	1	0	4	113	0.034188
BCAS1	8537	broad.mit.edu	37	20	52570145	52570145	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr20:52570145G>C	ENST00000395961.3	-	11	1672	c.1506C>G	c.(1504-1506)gaC>gaG	p.D502E	BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	502						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTGACTTCTTGTCCTTCGAGG	0.532																																						ENST00000395961.3											0			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1504-1506)gaC>gaG	breast carcinoma amplified sequence 1						246.0	189.0	208.0					20																	52570145		2203	4300	6503	SO:0001583	missense	8537				cytoplasm	protein binding	g.chr20:52570145G>C	AF041260	AF041260	CCDS13444.1	CCDS13444.1	20q13.2	2006-11-10			2006-11-10			ENSG00000064787	ENSG00000064787	ENSG00000064787	ENSG00000064787				974	974	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602968	602968						9671742	9671742	Standard	Standard	NM_003657	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	uc002xws.2	O75363	O75363	OTTHUMG00000032772	OTTHUMG00000032772	ENST00000395961.3:c.1506C>G	20.37:g.52570145G>C	ENSP00000379290:p.Asp502Glu		BCAS1_ENST00000434986.2_Missense_Mutation_p.D168E|BCAS1_ENST00000371440.3_Missense_Mutation_p.D511E|BCAS1_ENST00000371435.2_Missense_Mutation_p.D424E	p.D502E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1672	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		502		A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1506C>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413451|3.413451	0.62511|0.62511	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	T;T;T;T;T|.	0.10763|.	2.84;2.84;2.84;2.84;2.84|.	5.17|5.17	1.85|1.85	0.25348|0.25348	5.17|5.17	1.85|1.85	0.25348|0.25348	.|.	0.355510|.	0.27181|.	N|.	0.020555|.	T|T	0.69513|0.69513	0.3119|0.3119	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	B;D;P;D;D;D|.	0.89917|.	0.369;0.996;0.715;0.996;1.0;1.0|.	B;D;B;D;D;D|.	0.83275|.	0.242;0.99;0.242;0.99;0.996;0.996|.	T|T	0.68542|0.68542	-0.5381|-0.5381	10|5	0.06365|.	T|.	0.9|.	-11.4327|-11.4327	13.9608|13.9608	0.64177|0.64177	0.0:0.4399:0.5601:0.0|0.0:0.4399:0.5601:0.0	.|.	502;168;511;424;502;502|.	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	E|R	373;511;302;502;424;168|165	ENSP00000396361:D373E;ENSP00000360495:D511E;ENSP00000379290:D502E;ENSP00000360490:D424E;ENSP00000409956:D168E|.	ENSP00000360490:D424E|.	D|T	-|-	3|2	2|0	2|0	BCAS1|BCAS1	52003552|52003552	52003552|52003552	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.637000|0.637000	0.38172|0.38172	3.133000|3.133000	0.50531|0.50531	0.507000|0.507000	0.28148|0.28148	0.555000|0.555000	0.69702|0.69702	GAC|ACA		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2		107.068024	-15	-15	69	69	NM_003657		33	107.302698	107.302698	42	0.440000	0	0	0	1	0	33	42	0.44
ETS1	2113	broad.mit.edu	37	11	128360370	128360370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr11:128360370G>A	ENST00000319397.6	-	2	493	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*|ETS1_ENST00000392668.4_Nonsense_Mutation_p.R106*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	62	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R106*(1)|p.R62*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		ATCCCCAGTCGTTGCTGTTCT	0.438																																						ENST00000392668.4											2	Substitution - Nonsense(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(316-318)Cga>Tga	v-ets avian erythroblastosis virus E26 oncogene homolog 1						137.0	125.0	129.0					11																	128360370		2201	4297	6498	SO:0001587	stop_gained	2113			cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360370G>A			CCDS8475.1, CCDS44767.1, CCDS53724.1	CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954	ENSG00000134954	ENSG00000134954				3488	3488	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720	164720		EWSR2		EWSR2		1522903	1522903	Standard	Standard	NM_005238	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	uc001qej.2	P14921	P14921	OTTHUMG00000165799	OTTHUMG00000165799	ENST00000319397.6:c.184C>T	11.37:g.128360370G>A	ENSP00000324578:p.Arg62*		ETS1_ENST00000319397.6_Nonsense_Mutation_p.R62*|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Nonsense_Mutation_p.R62*|ETS1_ENST00000531611.1_Nonsense_Mutation_p.R62*|ETS1_ENST00000345075.4_Nonsense_Mutation_p.R62*	p.R106*	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	400	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		PNT.	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Nonsense_Mutation	SNP	ENST00000319397.6	37	c.316C>T	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	38	7.156526	0.98103	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	.	.	.	5.65	1.24	0.21308	5.65	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2744	0.73732	0.0:0.0:0.4534:0.5466	.	.	.	.	X	62;106;62;62;62	.	ENSP00000324578:R62X	R	-	1	2	2	ETS1	127865580	127865580	1.000000	0.71417	0.967000	0.41034	0.971000	0.66376	1.649000	0.37281	-0.047000	0.13423	0.563000	0.77884	CGA		0.438	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2		27.660076	12	12	125	125	NM_005238		15	39.632675	39.632675	86	0.148515	0	0	0	1	0	15	86	0.148515
HSD17B7	51478	broad.mit.edu	37	1	162773243	162773243	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:162773243G>C	ENST00000254521.3	+	6	720	c.665G>C	c.(664-666)tGt>tCt	p.C222S	HSD17B7_ENST00000367917.3_Intron|HSD17B7_ENST00000485405.1_3'UTR	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	222					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					AATGTGGCCTGTCCAGGTACA	0.413																																						ENST00000254521.3											0			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(664-666)tGt>tCt	hydroxysteroid (17-beta) dehydrogenase 7						84.0	75.0	78.0					1																	162773243		2203	4297	6500	SO:0001583	missense	51478			cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	g.chr1:162773243G>C	AF098786	AF098786	CCDS1242.1	CCDS1242.1	1q23	2011-09-14			2011-09-14			ENSG00000132196	ENSG00000132196	ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	5215	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756	606756						10544267, 10419022, 19027726	10544267, 10419022, 19027726	Standard	Standard	NM_016371	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	uc001gci.3	P56937	P56937	OTTHUMG00000034420	OTTHUMG00000034420	ENST00000254521.3:c.665G>C	1.37:g.162773243G>C	ENSP00000254521:p.Cys222Ser		HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367917.3_Intron	p.C222S	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN			6	720	+	all_hematologic(112;0.115)		222		Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Missense_Mutation	SNP	ENST00000254521.3	37	c.665G>C	CCDS1242.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460799	0.26248	.	.	ENSG00000132196	ENST00000254521	T	0.76839	-1.05	4.68	4.68	0.58851	4.68	4.68	0.58851	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	M	0.80183	2.485	0.38606	D	0.950770	D	0.89917	1.0	D	0.77004	0.989	T	0.80605	-0.1308	9	0.17369	T	0.5	-18.6451	14.7956	0.69876	0.0:0.0:1.0:0.0	.	222	P56937	DHB7_HUMAN	S	222	ENSP00000254521:C222S	ENSP00000254521:C222S	C	+	2	0	0	HSD17B7	161039867	161039867	1.000000	0.71417	0.943000	0.38184	0.088000	0.18126	9.090000	0.94144	2.578000	0.87016	0.650000	0.86243	TGT		0.413	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1		63.655355	7	7	64	64	NM_016371		21	65.204516	65.204516	42	0.333333	0	0	0	1	0	21	42	0.333333
LMO7	4008	broad.mit.edu	37	13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr13:76379755G>A	ENST00000321797.8	+	7	1077	c.356G>A	c.(355-357)cGc>cAc	p.R119H	LMO7_ENST00000357063.3_Missense_Mutation_p.R404H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA			Q8WWI1	LMO7_HUMAN	LIM domain 7	404	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413																																						ENST00000357063.3											0			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1210-1212)cGc>cAc	LIM domain 7						322.0	289.0	299.0					13																	76379755		1568	3582	5150	SO:0001583	missense	4008				cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76379755G>A	AF092557	AF092557	CCDS9454.1, CCDS53876.1	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153	ENSG00000136153	ENSG00000136153				6646	6646	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""F-box only protein 20"""	"""F-box only protein 20"""	604362	604362	"""LIM domain only 7"""	FBXO20	"""LIM domain only 7"""	FBXO20		9826547, 10531035	9826547, 10531035	Standard	Standard	NM_005358	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	uc021rkq.1	Q8WWI1	Q8WWI1	OTTHUMG00000017093	OTTHUMG00000017093	ENST00000321797.8:c.356G>A	13.37:g.76379755G>A	ENSP00000317802:p.Arg119His		LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000341547.4_Intron|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H	p.R404H			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	10	2471	+		Breast(118;0.0992)	404		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.1211G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.668026	0.88348	.	.	ENSG00000136153	ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261;ENST00000526371	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.73962	2.25	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.78763	-0.2077	10	0.87932	D	0	-11.2894	20.3363	0.98740	0.0:0.0:1.0:0.0	.	119	E9PLH4	.	H	404;404;119;119;119	ENSP00000349571:R404H;ENSP00000366757:R404H;ENSP00000317802:R119H;ENSP00000433352:R119H;ENSP00000432269:R119H	ENSP00000317802:R119H	R	+	2	0	0	LMO7	75277756	75277756	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	8.765000	0.91724	2.814000	0.96858	0.563000	0.77884	CGC		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3		-46.975137	-5	-5	190	190	NM_005358		4	6.456836	6.456836	202	0.019417	0	0	0	1	0	4	202	0.019417
AMER3	205147	broad.mit.edu	37	2	131520173	131520173	+	Silent	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr2:131520173G>A	ENST00000423981.1	+	2	638	c.528G>A	c.(526-528)tcG>tcA	p.S176S	AMER3_ENST00000321420.4_Silent_p.S176S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	176					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACTTGGCCTCGCTGGCGGCCG	0.642																																						ENST00000423981.1											0										c.(526-528)tcG>tcA	APC membrane recruitment protein 3						45.0	50.0	49.0					2																	131520173		2201	4294	6495	SO:0001819	synonymous_variant	205147						g.chr2:131520173G>A	AK095696	AK095696	CCDS2164.1	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	ENSG00000178171	ENSG00000178171		"""-"""	"""-"""	26771	26771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""family with sequence similarity 123C"""	FAM123C	"""family with sequence similarity 123C"""	FAM123C		20843316	20843316	Standard	Standard	NM_001105195	NM_001105195		Approved	FLJ38377	uc002trw.2	uc002trw.2	Q8N944	Q8N944	OTTHUMG00000131637	OTTHUMG00000131637	ENST00000423981.1:c.528G>A	2.37:g.131520173G>A			AMER3_ENST00000321420.4_Silent_p.S176S	p.S176S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	638	+					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.528G>A	CCDS2164.1																																																																																									0.642	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		61.834739	-6	-6	77	77	NM_152698		22	62.772327	62.772327	38	0.366667	0	0	0	1	0	22	38	0.366667
DTL	51514	broad.mit.edu	37	1	212220678	212220678	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:212220678G>A	ENST00000366991.4	+	5	693	c.379G>A	c.(379-381)Gta>Ata	p.V127I	DTL_ENST00000542077.1_Missense_Mutation_p.V85I|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	127					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		ATTTTGGGACGTAAAAGCTGG	0.388																																						ENST00000366991.4											0			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(379-381)Gta>Ata	denticleless E3 ubiquitin protein ligase homolog (Drosophila)						210.0	204.0	206.0					1																	212220678		2203	4300	6503	SO:0001583	missense	51514			DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	g.chr1:212220678G>A	AF195765	AF195765	CCDS1502.1, CCDS65778.1	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476	ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	30288	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	610617	"""denticleless homolog (Drosophila)"""		"""denticleless homolog (Drosophila)"""			11278750	11278750	Standard	Standard	NM_001286229	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	uc009xdc.3	Q9NZJ0	Q9NZJ0	OTTHUMG00000037133	OTTHUMG00000037133	ENST00000366991.4:c.379G>A	1.37:g.212220678G>A	ENSP00000355958:p.Val127Ile		DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.V85I	p.V127I	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)	5	693	+			127		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	ENST00000366991.4	37	c.379G>A	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947507	0.73672	.	.	ENSG00000143476	ENST00000366991;ENST00000542077	T;T	0.19105	2.17;2.17	5.18	4.28	0.50868	5.18	4.28	0.50868	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	N	0.25426	0.745	0.80722	D	1	D;D	0.67145	0.996;0.989	P;P	0.56514	0.8;0.636	T	0.02244	-1.1189	10	0.44086	T	0.13	-16.7073	14.264	0.66104	0.0722:0.0:0.9278:0.0	.	85;127	F5GZ90;Q9NZJ0	.;DTL_HUMAN	I	127;85	ENSP00000355958:V127I;ENSP00000443870:V85I	ENSP00000355958:V127I	V	+	1	0	0	DTL	210287301	210287301	1.000000	0.71417	0.719000	0.30619	0.586000	0.36452	7.058000	0.76676	1.342000	0.45619	-0.119000	0.15052	GTA		0.388	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090182.1		-32.471394	10	10	171	171	NM_016448		5	8.903745	8.903745	165	0.029412	0	0	0	1	0	5	165	0.029412
PLXND1	23129	broad.mit.edu	37	3	129303286	129303286	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:129303286C>A	ENST00000324093.4	-	6	2149	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	PLXND1_ENST00000393239.1_Missense_Mutation_p.Q657H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	657					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTAGGCAATCTGGTGACCAA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1											0			NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(1969-1971)caG>caT	plexin D1						73.0	68.0	70.0					3																	129303286		2203	4300	6503	SO:0001583	missense	23129			axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129303286C>A	AY116661	AY116661	CCDS33854.1	CCDS33854.1	3q21.3	2007-05-16			2007-05-16			ENSG00000004399	ENSG00000004399	ENSG00000004399	ENSG00000004399		"""Plexins"""	"""Plexins"""	9107	9107	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604282	604282						12412018	12412018	Standard	Standard	NM_015103	NM_015103		Approved	KIAA0620	uc003emx.2	uc003emx.2	Q9Y4D7	Q9Y4D7	OTTHUMG00000159547	OTTHUMG00000159547	ENST00000324093.4:c.1971G>T	3.37:g.129303286C>A	ENSP00000317128:p.Gln657His		PLXND1_ENST00000324093.4_Missense_Mutation_p.Q657H	p.Q657H			Q9Y4D7	PLXD1_HUMAN			6	2149	-			657		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.1971G>T	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787986	0.49997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.36520	1.29;1.25	4.77	3.89	0.44902	4.77	3.89	0.44902	.	0.070478	0.56097	D	0.000021	T	0.29355	0.0731	L	0.50333	1.59	0.49915	D	0.999839	B	0.20671	0.047	B	0.17433	0.018	T	0.09314	-1.0680	10	0.39692	T	0.17	.	6.9542	0.24562	0.0:0.7501:0.0:0.2499	.	657	Q9Y4D7	PLXD1_HUMAN	H	657	ENSP00000317128:Q657H;ENSP00000376931:Q657H	ENSP00000317128:Q657H	Q	-	3	2	2	PLXND1	130785976	130785976	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	0.383000	0.20651	1.134000	0.42165	0.561000	0.74099	CAG		0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4		0.565294	-6	-6	81	81	NM_015103		4	7.741114	7.741114	39	0.093023	1	0	0.00909568	1	0.00909568	4	39	0.093023
SBNO2	22904	broad.mit.edu	37	19	1122978	1122978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr19:1122978delG	ENST00000361757.3	-	8	932	c.695delC	c.(694-696)ccafs	p.P232fs	SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	232					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGATGTCTGGGGGTGGGAC	0.662																																						ENST00000361757.3											0			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(694-696)ccafs	strawberry notch homolog 2 (Drosophila)						48.0	50.0	49.0					19																	1122978		2172	4259	6431	SO:0001589	frameshift_variant	22904			macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1122978delG	AK074102	AK074102	CCDS45894.1, CCDS45895.1	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932		ENSG00000064932				29158	29158	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615729	615729	"""KIAA0963"""	KIAA0963	"""KIAA0963"""	KIAA0963		10231032	10231032	Standard	Standard	NM_014963	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	uc002lrk.4	Q9Y2G9	Q9Y2G9			ENST00000361757.3:c.695delC	19.37:g.1122978delG	ENSP00000354733:p.Pro232fs		SBNO2_ENST00000587024.1_Frame_Shift_Del_p.P232fs|SBNO2_ENST00000438103.2_Frame_Shift_Del_p.P175fs	p.P232fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	932	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	232		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Frame_Shift_Del	DEL	ENST00000361757.3	37	c.695delC	CCDS45894.1																																																																																									0.662	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	.	.	-7	-7	4	4	NM_014963		3			6	0.33						3	6	0.33
LOC101927571	101927571	broad.mit.edu	37	18	20480579	20480579	+	RNA	DEL	T	T	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr18:20480579delT	ENST00000583086.1	-	0	84				snoU13_ENST00000459133.1_RNA|RP11-739L10.1_ENST00000578831.1_RNA																							TAGCAGGCTGTGGATGGAGTG	0.463																																						ENST00000583086.1											0																																																0						g.chr18:20480579delT																																																		18.37:g.20480579delT			RP11-739L10.1_ENST00000578831.1_RNA								0	84	-						RNA	DEL	ENST00000583086.1	37																																																																																											0.463	RP11-370A5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000446416.1	.	.	2	2	7	7			2			4	0.33						2	4	0.33
FOXD3	27022	broad.mit.edu	37	1	63790123	63790123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr1:63790123delC	ENST00000371116.2	+	1	1394	c.1394delC	c.(1393-1395)gccfs	p.A471fs	RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA|RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	471	Poly-Ala.				embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						tcggccgccgccgctgctgcg	0.697																																					Pancreas(68;276 1750 11966 31252)	ENST00000371116.2											0			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(1393-1395)gccfs	forkhead box D3						2.0	2.0	2.0					1																	63790123		1146	2571	3717	SO:0001589	frameshift_variant	27022			axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63790123delC	AF197560	AF197560	CCDS624.1	CCDS624.1	1p31.3	2008-04-10			2008-04-10			ENSG00000187140	ENSG00000187140	ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	"""Forkhead boxes"""	3804	3804	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611539	611539						8499623	8499623	Standard	Standard	NM_012183	NM_012183		Approved	Genesis, HFH2	uc001dax.2	uc001dax.2	Q9UJU5	Q9UJU5	OTTHUMG00000009141	OTTHUMG00000009141	ENST00000371116.2:c.1394delC	1.37:g.63790123delC	ENSP00000360157:p.Ala471fs			p.A471fs	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN			1	1394	+			471	Poly-Ala.	Q9BYM2|Q9UDD1	Frame_Shift_Del	DEL	ENST00000371116.2	37	c.1394delC	CCDS624.1																																																																																									0.697	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1	.	.	2	2	3	3			2			4	0.33						2	4	0.33
PHF7	51533	broad.mit.edu	37	3	52443758	52443831	+	5'Flank	DEL	GCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	GCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	-	rs199750231|rs372533362|rs200628603|rs368322638|rs565532102|rs368881929	byFrequency	TCGA-V4-A9ED-01A-11D-A39W-08	TCGA-V4-A9ED-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e98b1c3c-18b3-4b03-b636-de1b96529d0a	57b12469-3e06-48f7-a3c0-62fc4a316460	g.chr3:52443758_52443831delGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Splice_Site_p.G13fs|BAP1_ENST00000296288.5_Splice_Site_p.G13fs|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)	p.?(2)|p.G13V(1)		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)		GGGTGAAGAGGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCCCCTGGCCCTC	0.701																																						ENST00000460680.1											3	Unknown(2)|Substitution - Missense(1)	eye(2)|kidney(1)	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.(37-39)ggg>g	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001631	upstream_gene_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52443758_52443831delGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	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:g.52443758_52443831delGCCTGGGTGGGGCGACAAGAGGAGGGGGTGATGGTCAGGCAGGCGCGTCCCGGGCCCATCCGGCCTCCCCAGCC	Exception_encountered		PHF7_ENST00000347025.2_5'Flank|PHF7_ENST00000327906.3_5'Flank|BAP1_ENST00000296288.5_Splice_Site_p.G13fs	p.G13fs	NM_004656.2	NP_004647.1	Q99496	RING2_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)	2	509_510	-			0	Interaction with HIP2.	K4DI82	Splice_Site	DEL	ENST00000327906.3		c.38_39delGGCTGGGGAGGCCGGATGGGCCCGGGACGCGCCTGCCTGACCATCACCCCCTCCTCTTGTCGCCCCACCCAGGC	CCDS2854.1																																																																																									0.701	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1	1.045000e+01	2.821000e+01	-4	-4	28	28	NM_016483		10			6	6.430000e-01						10	6	0.643
