#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		4	157	0	0	0	1	0	4	157				
LINC00202-1	387644	broad.mit.edu	37	10	27223346	27223346	+	lincRNA	SNP	G	G	C	rs138092914	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:27223346G>C	ENST00000431296.1	-	0	3258					NR_026795.1				long intergenic non-protein coding RNA 202-1																		TTTTACCTTCGATGTTTCAGC	0.483													G|||	11	0.00219649	0.0023	0.0	5008	,	,		15679	0.004		0.002	False		,,,				2504	0.002					ENST00000431296.1																			0																																																			0							g.chr10:27223346G>C	AK097405		10p12.1	2012-12-18	2012-12-18	2012-12-18	ENSG00000232224	ENSG00000232224		"""Long non-coding RNAs"""	24672	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 51"", ""non-protein coding RNA 202"", ""long intergenic non-protein coding RNA 202"""	C10orf51, NCRNA00202, LINC00202			Standard	NR_026795		Approved	bB27G4.1	uc001itf.2		OTTHUMG00000017849		10.37:g.27223346G>C								NR_026795.1						0	3258	-									RNA	SNP	ENST00000431296.1	37																																																																																						0.483	LINC00202-1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047293.1	NR_026795		3	37	0	0	0	1	0	3	37				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	205	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607																																						ENST00000391417.4																			1	Substitution - coding silent(1)	p.C150C(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(448-450)tgT>tgC		keratin associated protein 4-7							90.0	87.0	88.0					17																	39240908		692	1591	2283	SO:0001819	synonymous_variant	100132476							g.chr17:39240908T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.450T>C	17.37:g.39240908T>C							p.C150C	NM_033061.3	NP_149050.3					1	450	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.450T>C	CCDS45673.1																																																																																				0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	11	0	0	0	1	0	3	11				
RAPGEF5	9771	broad.mit.edu	37	7	22349655	22349655	+	Silent	SNP	G	G	A	rs368393485		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:22349655G>A	ENST00000405243.1	-	4	527	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGCACTGGACGAAAGGACAGT	0.463																																						ENST00000405243.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						c.(442-444)ttC>ttT		Rap guanine nucleotide exchange factor (GEF) 5		G		2,4260		0,2,2129	55.0	60.0	58.0			-1.1	1.0	7		58	0,8480		0,0,4240	no	utr-5	RAPGEF5	NM_012294.3		0,2,6369	AA,AG,GG		0.0,0.0469,0.0157			22349655	2,12740	2131	4240	6371	SO:0001819	synonymous_variant	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22349655G>A	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.444C>T	7.37:g.22349655G>A						RAPGEF5_ENST00000344041.6_5'UTR	p.F148F			Q92565	RPGF5_HUMAN			4	527	-			0			N-terminal Ras-GEF.		A4D140|Q8IXU5	Silent	SNP	ENST00000405243.1	37	c.444C>T																																																																																					0.463	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294		3	44	0	0	0	1	0	3	44				
CD163L1	283316	broad.mit.edu	37	12	7531609	7531609	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:7531609C>A	ENST00000313599.3	-	9	2393	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	779	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTAAATGACACGCAGTCTG	0.368																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(2335-2337)tGt>tTt		CD163 molecule-like 1							67.0	71.0	69.0					12																	7531609		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7531609C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.2336G>T	12.37:g.7531609C>A	ENSP00000315945:p.Cys779Phe					CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F	p.C779F			Q9NR16	C163B_HUMAN			9	2393	-			779			SRCR 7.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.2336G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196480	0.38806	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.52526	0.66;0.66;0.66	2.03	2.03	0.26663	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.984810	0.08236	U	0.976729	T	0.72028	0.3410	M	0.88906	2.99	0.34140	D	0.666285	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.73360	-0.4007	10	0.59425	D	0.04	.	10.0707	0.42330	0.0:1.0:0.0:0.0	.	789;779	E7EVK4;Q9NR16	.;C163B_HUMAN	F	779;789;779	ENSP00000315945:C779F;ENSP00000393474:C789F;ENSP00000379871:C779F	ENSP00000315945:C779F	C	-	2	0	CD163L1	7422876	1.000000	0.71417	0.008000	0.14137	0.002000	0.02628	4.663000	0.61532	1.430000	0.47334	0.455000	0.32223	TGT		0.368	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		3	72	1	0	1	1	1	3	72				
FAM181A	90050	broad.mit.edu	37	14	94395229	94395229	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr14:94395229C>G	ENST00000267594.5	+	3	1091	c.784C>G	c.(784-786)Cct>Gct	p.P262A	FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A-AS1_ENST00000554742.1_RNA	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	262										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTCAAGATGCCTGGGGTCTC	0.617																																						ENST00000267594.5																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						c.(784-786)Cct>Gct		family with sequence similarity 181, member A							52.0	50.0	51.0					14																	94395229		2203	4300	6503	SO:0001583	missense	90050							g.chr14:94395229C>G	BC009073	CCDS9914.1, CCDS55939.1	14q32.12	2011-11-30	2008-07-22	2008-07-22	ENSG00000140067	ENSG00000140067			20491	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 152"""	C14orf152			Standard	NM_138344		Approved		uc021saz.1	Q8N9Y4	OTTHUMG00000171297	ENST00000267594.5:c.784C>G	14.37:g.94395229C>G	ENSP00000267594:p.Pro262Ala					FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A	p.P262A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN			3	1091	+			262					B2RD39|Q96GY1	Missense_Mutation	SNP	ENST00000267594.5	37	c.784C>G	CCDS9914.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913261	0.33815	.	.	ENSG00000140067	ENST00000557719;ENST00000267594;ENST00000556222;ENST00000554404;ENST00000557000	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.74	2.81	0.32909	.	0.542224	0.15601	N	0.253913	T	0.22044	0.0531	L	0.40543	1.245	0.28716	N	0.903275	B	0.28419	0.211	B	0.23275	0.045	T	0.15009	-1.0452	10	0.54805	T	0.06	-0.4078	6.2699	0.20949	0.0:0.6691:0.1502:0.1807	.	262	Q8N9Y4	F181A_HUMAN	A	200;262;200;200;251	ENSP00000451802:P200A;ENSP00000267594:P262A;ENSP00000451678:P200A;ENSP00000452393:P200A	ENSP00000267594:P262A	P	+	1	0	FAM181A	93464982	0.998000	0.40836	0.994000	0.49952	0.799000	0.45148	1.150000	0.31639	0.369000	0.24510	0.561000	0.74099	CCT		0.617	FAM181A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412840.1	NM_138344		2	13	0	0	0	1	0	2	13				
H2AFJ	55766	broad.mit.edu	37	12	14927441	14927441	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:14927441G>A	ENST00000544848.1	+	1	172	c.37G>A	c.(37-39)Gca>Aca	p.A13T		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CAAAGTGCGAGCAAAGGCCAA	0.652																																						ENST00000544848.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						c.(37-39)Gca>Aca		H2A histone family, member J							32.0	39.0	37.0					12																	14927441		2202	4299	6501	SO:0001583	missense	55766				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:14927441G>A	AK001765	CCDS31752.1	12p12.3	2012-09-11			ENSG00000246705	ENSG00000246705		"""Histones / Replication-independent"""	14456	protein-coding gene	gene with protein product							Standard	NM_177925		Approved	FLJ10903, MGC921	uc009zia.3	Q9BTM1	OTTHUMG00000168736	ENST00000544848.1:c.37G>A	12.37:g.14927441G>A	ENSP00000438553:p.Ala13Thr						p.A13T	NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN			1	172	+			13					Q9NV63	Missense_Mutation	SNP	ENST00000544848.1	37	c.37G>A	CCDS31752.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.030490	0.54790	.	.	ENSG00000246705	ENST00000544848;ENST00000228929	D;T	0.84146	-1.81;0.93	4.61	4.61	0.57282	Histone-fold (2);Histone H2A (1);	.	.	.	.	T	0.78880	0.4353	L	0.33093	0.98	0.58432	D	0.999991	B	0.18741	0.03	B	0.16289	0.015	T	0.73209	-0.4055	9	0.36615	T	0.2	.	15.7492	0.77969	0.0:0.0:1.0:0.0	.	13	Q9BTM1	H2AJ_HUMAN	T	13	ENSP00000438553:A13T;ENSP00000228929:A13T	ENSP00000228929:A13T	A	+	1	0	H2AFJ	14818708	1.000000	0.71417	0.995000	0.50966	0.723000	0.41478	7.653000	0.83643	2.844000	0.97970	0.650000	0.86243	GCA		0.652	H2AFJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400845.1	NM_177925		3	49	0	0	0	1	0	3	49				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	70	0	0	0	1	0	3	70				
GALNT15	117248	broad.mit.edu	37	3	16261011	16261011	+	Silent	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr3:16261011A>G	ENST00000339732.5	+	7	1997	c.1494A>G	c.(1492-1494)ccA>ccG	p.P498P	GALNT15_ENST00000437509.1_Silent_p.P498P	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	498					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGCTGTACCCATCTGAACCCA	0.537																																						ENST00000339732.5																			0											c.(1492-1494)ccA>ccG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							239.0	222.0	228.0					3																	16261011		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16261011A>G	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1494A>G	3.37:g.16261011A>G						GALNT15_ENST00000437509.1_Silent_p.P498P	p.P498P	NM_054110.4	NP_473451.3					7	1997	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1494A>G	CCDS33711.1																																																																																				0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		37	254	0	0	0	1	0	37	254				
PCDHA5	56143	broad.mit.edu	37	5	140203081	140203081	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140203081G>T	ENST00000529859.1	+	1	1721	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	574					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCGGCGGCGCAGTGAGC	0.687																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1720-1722)gGc>gTc									43.0	51.0	48.0					5																	140203081		2202	4298	6500	SO:0001583	missense	0							g.chr5:140203081G>T	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1721G>T	5.37:g.140203081G>T	ENSP00000436557:p.Gly574Val					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron	p.G574V	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1721	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1721G>T	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	7.322	0.617131	0.14129	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.50548	0.78;0.74;0.77	3.87	1.8	0.24995	Cadherin-like (1);	.	.	.	.	T	0.38026	0.1025	N	0.25380	0.74	0.09310	N	1	B;B;B	0.25955	0.039;0.065;0.138	B;B;B	0.31751	0.015;0.048;0.135	T	0.41484	-0.9506	9	0.56958	D	0.05	.	12.1115	0.53842	0.0:0.0:0.5774:0.4226	.	574;574;574	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	574	ENSP00000433416:G574V;ENSP00000436557:G574V;ENSP00000367366:G574V	ENSP00000367366:G574V	G	+	2	0	PCDHA5	140183265	0.001000	0.12720	0.001000	0.08648	0.480000	0.33159	0.406000	0.21032	0.709000	0.31976	0.306000	0.20318	GGC		0.687	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		5	65	1	0	1.23904e-05	1	1.36612e-05	5	65				
GPC5	2262	broad.mit.edu	37	13	92101095	92101095	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr13:92101095C>A	ENST00000377067.3	+	2	616	c.244C>A	c.(244-246)Cgc>Agc	p.R82S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	82					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATTGCGGCTCGCCAGGATAT	0.428																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(244-246)Cgc>Agc		glypican 5							139.0	129.0	133.0					13																	92101095		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101095C>A	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.244C>A	13.37:g.92101095C>A	ENSP00000366267:p.Arg82Ser						p.R82S	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			2	616	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	82					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.244C>A	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	9.109	1.006043	0.19199	.	.	ENSG00000179399	ENST00000377067	T	0.52754	0.65	5.5	4.64	0.57946	.	0.421215	0.24039	N	0.042102	T	0.49695	0.1572	M	0.62723	1.935	0.09310	N	1	B	0.26445	0.149	B	0.33196	0.159	T	0.51934	-0.8642	10	0.87932	D	0	.	13.0414	0.58901	0.3082:0.6918:0.0:0.0	.	82	P78333	GPC5_HUMAN	S	82	ENSP00000366267:R82S	ENSP00000366267:R82S	R	+	1	0	GPC5	90899096	0.871000	0.30034	0.024000	0.17045	0.012000	0.07955	1.038000	0.30254	1.275000	0.44379	0.467000	0.42956	CGC		0.428	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		3	80	1	0	1	1	1	3	80				
LINC00202-1	387644	broad.mit.edu	37	10	27223418	27223418	+	lincRNA	SNP	T	T	C			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:27223418T>C	ENST00000431296.1	-	0	3186					NR_026795.1				long intergenic non-protein coding RNA 202-1																		CATCTGTCCATTGGGCTTGGT	0.438																																						ENST00000431296.1																			0																																																			0							g.chr10:27223418T>C	AK097405		10p12.1	2012-12-18	2012-12-18	2012-12-18	ENSG00000232224	ENSG00000232224		"""Long non-coding RNAs"""	24672	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 51"", ""non-protein coding RNA 202"", ""long intergenic non-protein coding RNA 202"""	C10orf51, NCRNA00202, LINC00202			Standard	NR_026795		Approved	bB27G4.1	uc001itf.2		OTTHUMG00000017849		10.37:g.27223418T>C								NR_026795.1						0	3186	-									RNA	SNP	ENST00000431296.1	37																																																																																						0.438	LINC00202-1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047293.1	NR_026795		3	73	0	0	0	1	0	3	73				
ALKBH4	54784	broad.mit.edu	37	7	102098332	102098332	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:102098332C>T	ENST00000292566.3	-	3	457	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	140					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						GGGTAGAGGCCCATCCTCCGC	0.652																																						ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(418-420)Ggc>Agc		alkB, alkylation repair homolog 4 (E. coli)							30.0	33.0	32.0					7																	102098332		2203	4300	6503	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098332C>T	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.418G>A	7.37:g.102098332C>T	ENSP00000292566:p.Gly140Ser						p.G140S	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	457	-			140					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.418G>A	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	C	5.210	0.224295	0.09863	.	.	ENSG00000160993	ENST00000292566	T	0.13420	2.59	4.67	3.79	0.43588	.	0.454596	0.25377	N	0.031115	T	0.06690	0.0171	N	0.11789	0.175	0.32047	N	0.597439	B	0.10296	0.003	B	0.06405	0.002	T	0.29336	-1.0015	10	0.07175	T	0.84	-11.9847	10.5717	0.45204	0.0:0.7681:0.0:0.2319	.	140	Q9NXW9	ALKB4_HUMAN	S	140	ENSP00000292566:G140S	ENSP00000292566:G140S	G	-	1	0	ALKBH4	101885337	0.110000	0.22057	0.991000	0.47740	0.725000	0.41563	0.433000	0.21477	0.595000	0.29777	-1.134000	0.01955	GGC		0.652	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		6	36	0	0	0	1	0	6	36				
ZNF493	284443	broad.mit.edu	37	19	21606544	21606544	+	Silent	SNP	C	C	T	rs563481308	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:21606544C>T	ENST00000355504.4	+	2	965	c.699C>T	c.(697-699)tcC>tcT	p.S233S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S361S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCCTCACACCTTA	0.358													.|||	2	0.000399361	0.0	0.0014	5008	,	,		18685	0.001		0.0	False		,,,				2504	0.0					ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1081-1083)tcC>tcT		zinc finger protein 493							48.0	53.0	51.0					19																	21606544		2202	4296	6498	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606544C>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.699C>T	19.37:g.21606544C>T						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S233S	p.S361S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1192	+			233					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1083C>T	CCDS12412.1																																																																																				0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	74	0	0	0	1	0	3	74				
ZNF460	10794	broad.mit.edu	37	19	57803368	57803368	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:57803368C>T	ENST00000360338.3	+	3	1781	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	ZNF460_ENST00000537645.1_Missense_Mutation_p.R446C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCCTTCAACCGCAGGTCACC	0.537																																						ENST00000360338.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1459-1461)Cgc>Tgc		zinc finger protein 460							123.0	109.0	113.0					19																	57803368		2203	4300	6503	SO:0001583	missense	10794				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803368C>T	X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	21628	protein-coding gene	gene with protein product		604755	"""zinc finger protein 272"""	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1459C>T	19.37:g.57803368C>T	ENSP00000353491:p.Arg487Cys					ZNF460_ENST00000537645.1_Missense_Mutation_p.R446C	p.R487C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1781	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	487					A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Missense_Mutation	SNP	ENST00000360338.3	37	c.1459C>T	CCDS12949.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223345	0.58668	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.16073	2.37;2.37	1.92	-0.462	0.12168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11495	0.0280	L	0.39397	1.21	0.09310	N	1	B	0.20164	0.042	B	0.15484	0.013	T	0.32877	-0.9890	9	0.54805	T	0.06	.	2.2162	0.03960	0.2413:0.3249:0.0:0.4338	.	487	Q14592	ZN460_HUMAN	C	446;487	ENSP00000446167:R446C;ENSP00000353491:R487C	ENSP00000353491:R487C	R	+	1	0	ZNF460	62495180	0.000000	0.05858	0.005000	0.12908	0.979000	0.70002	-4.506000	0.00223	-0.051000	0.13334	0.650000	0.86243	CGC		0.537	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1	NM_006635		20	76	0	0	0	1	0	20	76				
TAGLN2	8407	broad.mit.edu	37	1	159889625	159889625	+	Splice_Site	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159889625C>T	ENST00000368097.4	-	3	491	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	TAGLN2_ENST00000368096.1_Splice_Site_p.V82M|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Splice_Site_p.V61M	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	61	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACATAGCACCTGGATGAGG	0.552																																						ENST00000368097.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.e3-1		transgelin 2							145.0	132.0	137.0					1																	159889625		2203	4300	6503	SO:0001630	splice_region_variant	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889625C>T	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.181-1G>A	1.37:g.159889625C>T						TAGLN2_ENST00000320307.4_Splice_Site_p.V61_splice|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Splice_Site_p.V82_splice	p.V61_splice	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	491	-	all_hematologic(112;0.0597)		61			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Splice_Site	SNP	ENST00000368097.4	37	c.180_splice	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.724542	0.68959	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.09	5.09	0.68999	Calponin homology domain (5);	0.000000	0.44285	U	0.000467	D	0.97804	0.9279	M	0.88979	2.995	0.58432	D	0.999996	D	0.76494	0.999	D	0.77004	0.989	D	0.98160	1.0446	9	.	.	.	-23.7368	16.3498	0.83199	0.0:1.0:0.0:0.0	.	61	P37802	TAGL2_HUMAN	M	61;82;61;61	ENSP00000357077:V61M;ENSP00000357076:V82M;ENSP00000357075:V61M;ENSP00000412429:V61M	.	V	-	1	0	TAGLN2	158156249	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.729000	0.38115	2.525000	0.85131	0.655000	0.94253	GTG		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564	Missense_Mutation	29	112	0	0	0	1	0	29	112				
ZNF599	148103	broad.mit.edu	37	19	35251088	35251088	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:35251088T>G	ENST00000329285.8	-	4	991	c.618A>C	c.(616-618)aaA>aaC	p.K206N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGCTAAACCCTTTCCCACATT	0.493																																						ENST00000329285.7																			0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(616-618)aaA>aaC		zinc finger protein 599							188.0	173.0	178.0					19																	35251088		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251088T>G	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.618A>C	19.37:g.35251088T>G	ENSP00000333802:p.Lys206Asn						p.K206N	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	991	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		206					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.618A>C	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629107	0.28978	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.36340	1.26	2.26	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52468	0.1736	M	0.80183	2.485	0.52099	D	0.999945	D	0.69078	0.997	D	0.64237	0.923	T	0.51624	-0.8682	9	0.87932	D	0	.	5.5801	0.17245	0.0:0.1522:0.0:0.8478	.	206	Q96NL3	ZN599_HUMAN	N	205;206;8	ENSP00000333802:K206N	ENSP00000333802:K206N	K	-	3	2	ZNF599	39942928	0.002000	0.14202	0.714000	0.30535	0.438000	0.31896	0.194000	0.17135	0.321000	0.23259	0.260000	0.18958	AAA		0.493	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	XM_086046		6	146	0	0	0	1	0	6	146				
EEA1	8411	broad.mit.edu	37	12	93247720	93247720	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:93247720G>T	ENST00000322349.8	-	6	641	c.377C>A	c.(376-378)cCt>cAt	p.P126H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	126					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAACCCATCAGGTTTGGCCTC	0.294																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(376-378)cCt>cAt		early endosome antigen 1							44.0	42.0	43.0					12																	93247720		2203	4298	6501	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93247720G>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.377C>A	12.37:g.93247720G>T	ENSP00000317955:p.Pro126His						p.P126H	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			6	641	-			126					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.377C>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776449	0.49786	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	T	0.63580	-0.05	5.6	5.6	0.85130	.	0.323425	0.23178	N	0.051043	T	0.52805	0.1757	N	0.14661	0.345	0.23401	N	0.997751	P	0.45348	0.856	P	0.45946	0.498	T	0.52601	-0.8554	10	0.45353	T	0.12	.	16.3667	0.83331	0.0:0.0:1.0:0.0	.	126	Q15075	EEA1_HUMAN	H	126;125	ENSP00000317955:P126H	ENSP00000317955:P126H	P	-	2	0	EEA1	91771851	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	4.375000	0.59549	2.636000	0.89361	0.591000	0.81541	CCT		0.294	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		3	29	1	0	1	1	1	3	29				
MUC16	94025	broad.mit.edu	37	19	9048764	9048764	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:9048764A>G	ENST00000397910.4	-	5	33070	c.32867T>C	c.(32866-32868)cTt>cCt	p.L10956P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10958	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTTCACCAAGAGAAAAAGT	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(32866-32868)cTt>cCt		mucin 16, cell surface associated							142.0	130.0	134.0					19																	9048764		1914	4126	6040	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9048764A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32867T>C	19.37:g.9048764A>G	ENSP00000381008:p.Leu10956Pro						p.L10956P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	33070	-			10958			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32867T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.983	0.182587	0.09495	.	.	ENSG00000181143	ENST00000397910	T	0.03272	3.99	3.5	-4.88	0.03113	.	.	.	.	.	T	0.00998	0.0033	N	0.00436	-1.5	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.47886	-0.9082	8	0.87932	D	0	.	3.317	0.07036	0.2894:0.0:0.2736:0.437	.	10956	B5ME49	.	P	10956	ENSP00000381008:L10956P	ENSP00000381008:L10956P	L	-	2	0	MUC16	8909764	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.450000	0.00466	-0.791000	0.04486	-1.210000	0.01631	CTT		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	120	0	0	0	1	0	3	120				
OR13D1	286365	broad.mit.edu	37	9	107456834	107456834	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:107456834C>G	ENST00000318763.5	+	1	175	c.132C>G	c.(130-132)ttC>ttG	p.F44L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGACTGAATTCTTTCTGGTGG	0.443																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(130-132)ttC>ttG		olfactory receptor, family 13, subfamily D, member 1							68.0	68.0	68.0					9																	107456834		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456834C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.132C>G	9.37:g.107456834C>G	ENSP00000317357:p.Phe44Leu						p.F44L	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	175	+			44					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.132C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777036	0.49786	.	.	ENSG00000179055	ENST00000318763	T	0.04454	3.62	3.75	2.73	0.32206	.	0.000000	0.53938	D	0.000054	T	0.15219	0.0367	M	0.89214	3.015	0.27165	N	0.961052	D	0.61697	0.99	P	0.56648	0.803	T	0.04991	-1.0913	10	0.72032	D	0.01	.	4.406	0.11409	0.0:0.7198:0.0:0.2802	.	44	Q8NGV5	O13D1_HUMAN	L	44	ENSP00000317357:F44L	ENSP00000317357:F44L	F	+	3	2	OR13D1	106496655	0.000000	0.05858	1.000000	0.80357	0.751000	0.42716	-0.264000	0.08658	1.917000	0.55516	0.609000	0.83330	TTC		0.443	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			10	39	0	0	0	1	0	10	39				
SCML2	10389	broad.mit.edu	37	X	18275111	18275111	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:18275111G>A	ENST00000251900.4	-	11	1472	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	SCML2_ENST00000398048.3_Missense_Mutation_p.P174L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	438					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTGTTCACTGGAGGGAGCTG	0.443																																					Esophageal Squamous(100;1252 1965 19021 35517)	ENST00000251900.4																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1312-1314)cCa>cTa		sex comb on midleg-like 2 (Drosophila)							130.0	112.0	118.0					X																	18275111		2203	4300	6503	SO:0001583	missense	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18275111G>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1313C>T	X.37:g.18275111G>A	ENSP00000251900:p.Pro438Leu					SCML2_ENST00000398048.3_Missense_Mutation_p.P174L	p.P438L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN			11	1472	-	Hepatocellular(33;0.183)		438					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	ENST00000251900.4	37	c.1313C>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103313	0.76983	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.40225	1.04;1.04	5.27	4.4	0.53042	.	0.381500	0.26887	N	0.021997	T	0.53433	0.1796	L	0.54323	1.7	0.58432	D	0.999998	P;D;P	0.61080	0.891;0.989;0.772	P;P;B	0.58780	0.526;0.845;0.439	T	0.47849	-0.9085	10	0.27785	T	0.31	.	15.0418	0.71796	0.0:0.139:0.861:0.0	.	406;174;438	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	L	438;174;406	ENSP00000251900:P438L;ENSP00000381126:P174L	ENSP00000251900:P438L	P	-	2	0	SCML2	18185032	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.383000	0.97214	0.981000	0.38548	0.513000	0.50165	CCA		0.443	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		3	71	0	0	0	1	0	3	71				
GTF3C1	2975	broad.mit.edu	37	16	27475706	27475706	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:27475706C>A	ENST00000356183.4	-	34	5822	c.5807G>T	c.(5806-5808)aGt>aTt	p.S1936I	GTF3C1_ENST00000561623.1_Intron	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1936					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGGGGAACTGAACTCACC	0.667																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5806-5808)aGt>aTt		general transcription factor IIIC, polypeptide 1, alpha 220kDa							80.0	86.0	84.0					16																	27475706		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27475706C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5807G>T	16.37:g.27475706C>A	ENSP00000348510:p.Ser1936Ile					GTF3C1_ENST00000561623.1_Intron	p.S1936I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			34	5822	-			1936					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5807G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142672	0.21205	.	.	ENSG00000077235	ENST00000356183	T	0.23754	1.89	3.87	0.406	0.16366	.	1.456400	0.03999	N	0.296234	T	0.20780	0.0500	L	0.56769	1.78	0.09310	N	1	P	0.41748	0.761	B	0.31751	0.135	T	0.29088	-1.0023	10	0.54805	T	0.06	-14.6307	2.3028	0.04166	0.2343:0.4351:0.0:0.3306	.	1936	Q12789	TF3C1_HUMAN	I	1936	ENSP00000348510:S1936I	ENSP00000348510:S1936I	S	-	2	0	GTF3C1	27383207	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.102000	0.15272	0.285000	0.22329	-0.521000	0.04368	AGT		0.667	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		15	89	1	0	3.51602e-12	1	3.97865e-12	15	89				
GABRB1	2560	broad.mit.edu	37	4	47408857	47408857	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:47408857T>A	ENST00000295454.3	+	8	1286	c.994T>A	c.(994-996)Ttt>Att	p.F332I	GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	332					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTACATCTTCTTTGGGAAAGG	0.393																																						ENST00000295454.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(994-996)Ttt>Att		gamma-aminobutyric acid (GABA) A receptor, beta 1	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						149.0	146.0	147.0					4																	47408857		2203	4300	6503	SO:0001583	missense	2560				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:47408857T>A		CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.994T>A	4.37:g.47408857T>A	ENSP00000295454:p.Phe332Ile					GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	p.F332I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN			8	1286	+			332					B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	ENST00000295454.3	37	c.994T>A	CCDS3474.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850031	0.71603	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.85411	-1.98;-1.98	4.74	4.74	0.60224	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.214476	0.31199	N	0.008079	D	0.90359	0.6983	M	0.64404	1.975	0.80722	D	1	B;D	0.62365	0.264;0.991	B;D	0.78314	0.111;0.991	D	0.90118	0.4197	10	0.44086	T	0.13	-15.09	14.0816	0.64925	0.0:0.0:0.0:1.0	.	262;332	F5GXV5;P18505	.;GBRB1_HUMAN	I	332;262	ENSP00000295454:F332I;ENSP00000440330:F262I	ENSP00000295454:F332I	F	+	1	0	GABRB1	47103614	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	1.995000	0.58328	0.383000	0.25322	TTT		0.393	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216896.1			3	29	0	0	0	1	0	3	29				
PRSS12	8492	broad.mit.edu	37	4	119216935	119216935	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:119216935T>A	ENST00000296498.3	-	10	2196	c.1914A>T	c.(1912-1914)ttA>ttT	p.L638F	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	638	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACATTTACCTTAAAGAATTTT	0.363																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1912-1914)ttA>ttT		protease, serine, 12 (neurotrypsin, motopsin)							62.0	71.0	68.0					4																	119216935		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119216935T>A	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1914A>T	4.37:g.119216935T>A	ENSP00000296498:p.Leu638Phe					PRSS12_ENST00000510903.1_5'UTR	p.L638F	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			10	2196	-			638			Peptidase S1.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1914A>T	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143409	0.57044	.	.	ENSG00000164099	ENST00000296498	D	0.88586	-2.4	5.64	1.95	0.26073	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000008	T	0.79240	0.4412	N	0.24115	0.695	0.42298	D	0.992164	P	0.39576	0.679	B	0.40038	0.317	T	0.70865	-0.4756	10	0.25106	T	0.35	.	7.9394	0.29950	0.0:0.2282:0.0:0.7718	.	638	P56730	NETR_HUMAN	F	638	ENSP00000296498:L638F	ENSP00000296498:L638F	L	-	3	2	PRSS12	119436383	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.642000	0.37207	0.423000	0.26033	0.533000	0.62120	TTA		0.363	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			5	82	0	0	0	1	0	5	82				
AKAP13	11214	broad.mit.edu	37	15	86284686	86284686	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr15:86284686A>G	ENST00000394518.2	+	35	8113	c.8018A>G	c.(8017-8019)gAg>gGg	p.E2673G	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2673	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGGGAGGCAGAGCGGCTCAGC	0.572																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8017-8019)gAg>gGg		A kinase (PRKA) anchor protein 13							34.0	33.0	33.0					15																	86284686		2201	4299	6500	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86284686A>G	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8018A>G	15.37:g.86284686A>G	ENSP00000378026:p.Glu2673Gly					AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G	p.E2673G	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			35	8113	+			2673			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.8018A>G	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.571238	0.28003	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.23147	1.92;1.92;1.92	5.45	4.33	0.51752	.	.	.	.	.	T	0.25680	0.0625	L	0.60455	1.87	0.23304	N	0.997946	B;B	0.14438	0.006;0.01	B;B	0.16722	0.007;0.016	T	0.18650	-1.0330	9	0.32370	T	0.25	.	9.0494	0.36367	0.9172:0.0:0.0828:0.0	.	2673;2677	Q12802;Q12802-2	AKP13_HUMAN;.	G	2677;2673;2676;2652;918	ENSP00000354718:E2677G;ENSP00000378026:E2673G;ENSP00000378018:E918G	ENSP00000354718:E2677G	E	+	2	0	AKAP13	84085690	1.000000	0.71417	0.816000	0.32577	0.316000	0.28119	3.042000	0.49815	0.914000	0.36822	0.533000	0.62120	GAG		0.572	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	34	0	0	0	1	0	5	34				
DIRC1	116093	broad.mit.edu	37	2	189599335	189599335	+	Nonstop_Mutation	SNP	A	A	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr2:189599335A>G	ENST00000308100.4	-	2	583	c.313T>C	c.(313-315)Taa>Caa	p.*105Q	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	0										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			CATTGTAATTAGGTAAGGCTT	0.373																																						ENST00000308100.4																			0				large_intestine(1)|lung(6)	7						c.(313-315)Taa>Caa		disrupted in renal carcinoma 1							138.0	144.0	142.0					2																	189599335		2203	4300	6503	SO:0001578	stop_lost	116093							g.chr2:189599335A>G	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.313T>C	2.37:g.189599335A>G	ENSP00000307860:p.*105Gluext*29					AC079613.1_ENST00000431708.1_RNA	p.*105Q	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	583	-			0					Q08AK1	Nonstop_Mutation	SNP	ENST00000308100.4	37	c.313T>C	CCDS2296.1	.	.	.	.	.	.	.	.	.	.	A	0.715	-0.785688	0.02907	.	.	ENSG00000174325	ENST00000308100	.	.	.	2.5	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9148	0.05749	0.451:0.2458:0.3033:0.0	.	.	.	.	Q	105	.	.	X	-	1	0	DIRC1	189307580	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.227000	0.09126	-0.364000	0.08088	0.533000	0.62120	TAA		0.373	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		4	118	0	0	0	1	0	4	118				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	36	0	0	0	1	0	4	36				
PCDHGA4	56111	broad.mit.edu	37	5	140735010	140735010	+	Silent	SNP	C	C	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140735010C>T	ENST00000571252.1	+	1	243	c.243C>T	c.(241-243)agC>agT	p.S81S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCACCTTGG	0.612																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(241-243)agC>agT									46.0	55.0	52.0					5																	140735010		2171	4294	6465	SO:0001819	synonymous_variant	0							g.chr5:140735010C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.243C>T	5.37:g.140735010C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S81S	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	243	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.243C>T	CCDS58979.1																																																																																				0.612	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		3	63	0	0	0	1	0	3	63				
TMCC2	9911	broad.mit.edu	37	1	205240957	205240957	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:205240957G>T	ENST00000358024.3	+	5	2224	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	612						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGGAGTCCTGCCTGACCCGG	0.657																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(1834-1836)tGc>tTc		transmembrane and coiled-coil domain family 2							49.0	51.0	50.0					1																	205240957		2203	4300	6503	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205240957G>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1835G>T	1.37:g.205240957G>T	ENSP00000350718:p.Cys612Phe					TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F	p.C612F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	2224	+	Breast(84;0.0871)		612					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.1835G>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711367	0.89112	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.43	5.43	0.79202	.	0.092605	0.85682	D	0.000000	T	0.64505	0.2604	L	0.56340	1.77	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.91635	0.966;0.98;0.999	T	0.55496	-0.8132	10	0.23302	T	0.38	.	19.0206	0.92912	0.0:0.0:1.0:0.0	.	372;387;612	G5E963;B2RAX5;O75069	.;.;TMCC2_HUMAN	F	612;534;387;372	ENSP00000350718:C612F;ENSP00000437943:C534F;ENSP00000331842:C387F;ENSP00000329436:C372F	ENSP00000329436:C372F	C	+	2	0	TMCC2	203507580	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.623000	0.98386	2.824000	0.97209	0.655000	0.94253	TGC		0.657	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858		3	69	1	0	1	1	1	3	69				
FRS3	10817	broad.mit.edu	37	6	41738719	41738719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr6:41738719G>A	ENST00000373018.3	-	7	1368	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	373					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCTGGTGGGCTTCTGCAGT	0.662																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1117-1119)Ccc>Tcc		fibroblast growth factor receptor substrate 3							41.0	44.0	43.0					6																	41738719		2200	4298	6498	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738719G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1117C>T	6.37:g.41738719G>A	ENSP00000362109:p.Pro373Ser					FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	p.P373S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1368	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		373					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.1117C>T	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095770	0.20552	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.21191	2.02;2.02	5.76	4.71	0.59529	.	0.245819	0.43747	D	0.000538	T	0.04907	0.0132	N	0.22421	0.69	0.33722	D	0.617148	P	0.42827	0.791	B	0.32677	0.15	T	0.22138	-1.0225	10	0.37606	T	0.19	-30.3254	8.8037	0.34925	0.1735:0.0:0.8265:0.0	.	373	O43559	FRS3_HUMAN	S	373	ENSP00000362109:P373S;ENSP00000259748:P373S	ENSP00000259748:P373S	P	-	1	0	FRS3	41846697	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.214000	0.58527	2.728000	0.93425	0.655000	0.94253	CCC		0.662	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		5	107	0	0	0	1	0	5	107				
OR52E2	119678	broad.mit.edu	37	11	5080421	5080421	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr11:5080421A>T	ENST00000321522.2	-	1	436	c.437T>A	c.(436-438)aTt>aAt	p.I146N		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCAAGACCAATCACAGAAAC	0.463																																						ENST00000321522.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(436-438)aTt>aAt		olfactory receptor, family 52, subfamily E, member 2							91.0	82.0	85.0					11																	5080421		2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080421A>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.437T>A	11.37:g.5080421A>T	ENSP00000322088:p.Ile146Asn						p.I146N	NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	1	436	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	146						Missense_Mutation	SNP	ENST00000321522.2	37	c.437T>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	A	9.608	1.130610	0.21041	.	.	ENSG00000176787	ENST00000321522	T	0.40476	1.03	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.394554	0.21986	N	0.066235	T	0.57242	0.2040	H	0.96748	3.875	0.18873	N	0.999986	B	0.32031	0.352	B	0.35899	0.213	T	0.62067	-0.6932	10	0.87932	D	0	.	7.6553	0.28371	0.8974:0.0:0.1026:0.0	.	146	Q8NGJ4	O52E2_HUMAN	N	146	ENSP00000322088:I146N	ENSP00000322088:I146N	I	-	2	0	OR52E2	5036997	0.000000	0.05858	0.979000	0.43373	0.384000	0.30261	0.825000	0.27393	1.966000	0.57179	0.529000	0.55759	ATT		0.463	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164		4	25	0	0	0	1	0	4	25				
ASCC2	84164	broad.mit.edu	37	22	30221102	30221102	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr22:30221102G>A	ENST00000397771.2	-	5	562	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ASCC2_ENST00000307790.3_Missense_Mutation_p.R129C|ASCC2_ENST00000542393.1_Missense_Mutation_p.R76C			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTGGACATGCGGAGGAAGGTG	0.572																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(385-387)Cgc>Tgc		activating signal cointegrator 1 complex subunit 2							152.0	143.0	146.0					22																	30221102		2203	4300	6503	SO:0001583	missense	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30221102G>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.385C>T	22.37:g.30221102G>A	ENSP00000380877:p.Arg129Cys					ASCC2_ENST00000307790.3_Missense_Mutation_p.R129C|ASCC2_ENST00000542393.1_Missense_Mutation_p.R76C	p.R129C			Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		5	562	-			129					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	ENST00000397771.2	37	c.385C>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766444	0.69878	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393;ENST00000431535;ENST00000412689	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.68838	-0.5303	10	0.87932	D	0	-16.435	14.6242	0.68608	0.0:0.0:0.8454:0.1546	.	76;129	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	C	129;129;76;129;129	ENSP00000305502:R129C;ENSP00000380877:R129C;ENSP00000437570:R76C;ENSP00000412382:R129C;ENSP00000417032:R129C	ENSP00000305502:R129C	R	-	1	0	ASCC2	28551102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.504000	0.45416	2.768000	0.95171	0.655000	0.94253	CGC		0.572	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		4	118	0	0	0	1	0	4	118				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	118	0	0	0	1	0	5	118				
NUP214	8021	broad.mit.edu	37	9	134026129	134026129	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:134026129T>G	ENST00000359428.5	+	16	2398	c.2254T>G	c.(2254-2256)Ttg>Gtg	p.L752V	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	752	11 X 5 AA approximate repeats.|Leucine-zipper 1.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACCTTTCTTTTGGAGATTAA	0.403			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(2254-2256)Ttg>Gtg		nucleoporin 214kDa							155.0	158.0	157.0					9																	134026129		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134026129T>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.2254T>G	9.37:g.134026129T>G	ENSP00000352400:p.Leu752Val					RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA	p.L752V			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	16	2398	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	752			11 X 5 AA approximate repeats.|Leucine-zipper 1.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.2254T>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	T	14.55	2.567578	0.45694	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34472	1.38;1.37;1.36	5.84	-4.1	0.03940	.	0.214312	0.23096	N	0.051965	T	0.28732	0.0712	N	0.08118	0	0.31303	N	0.688108	P;D;B;D	0.64830	0.502;0.994;0.372;0.971	B;P;B;P	0.57152	0.232;0.814;0.053;0.646	T	0.40739	-0.9547	10	0.46703	T	0.11	-9.5324	15.2655	0.73657	0.0:0.5793:0.0:0.4207	.	741;346;742;752	P35658-2;Q5JUP9;P35658-4;P35658	.;.;.;NU214_HUMAN	V	752;742;753;741;346;181	ENSP00000352400:L752V;ENSP00000396576:L742V;ENSP00000405014:L753V	ENSP00000352400:L752V	L	+	1	2	NUP214	133015950	0.560000	0.26570	0.139000	0.22197	0.945000	0.59286	0.780000	0.26760	-0.624000	0.05611	-0.290000	0.09829	TTG		0.403	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	149	0	0	0	1	0	5	149				
IGSF9	57549	broad.mit.edu	37	1	159899709	159899709	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159899709delG	ENST00000368094.1	-	16	2318	c.2121delC	c.(2119-2121)cccfs	p.P707fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P691fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	707	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGTGTTGCTGGGGTCGCTGA	0.672																																						ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(2119-2121)ccfs		immunoglobulin superfamily, member 9							28.0	28.0	28.0					1																	159899709		2191	4291	6482	SO:0001589	frameshift_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159899709delG	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2121delC	1.37:g.159899709delG	ENSP00000357073:p.Pro707fs					IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P691fs|IGSF9_ENST00000493195.1_5'UTR	p.P707fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		16	2318	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	707			Fibronectin type-III 2.			Frame_Shift_Del	DEL	ENST00000368094.1	37	c.2121delC	CCDS44254.1																																																																																				0.672	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		2	4						2	4	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					ENST00000319653.9																			1	Deletion - In frame(1)	p.G197delG(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(160-162)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del						p.G59del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	390_392	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		12	6						12	6	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910768	2910769	+	lincRNA	INS	-	-	T	rs142585959		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr2:2910768_2910769insT	ENST00000457478.1	-	0	594																											tccaccccctctcccCAGCCCA	0.698																																						ENST00000457478.1																			0																																																			0							g.chr2:2910768_2910769insT																													2.37:g.2910769_2910769dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.698	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			6	13						6	13	---	---	---	---
NCKIPSD	51517	broad.mit.edu	37	3	48720447	48720448	+	Splice_Site	INS	-	-	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr3:48720447_48720448insG	ENST00000294129.2	-	2	291		c.e2-2		NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain						cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)	p.?(1)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGGCCCTGGGGGGGGCAG	0.619																																						ENST00000294129.2																			1	Unknown(1)	p.?(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.e2-2		NCK interacting protein with SH3 domain																																				SO:0001630	splice_region_variant	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48720447_48720448insG	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.172-2->C	3.37:g.48720455_48720455dupG						NCKIPSD_ENST00000341520.4_Splice_Site|NCKIPSD_ENST00000416649.2_Splice_Site		NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	2	291	-								B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Splice_Site	INS	ENST00000294129.2	37		CCDS2776.1																																																																																				0.619	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453	Intron	2	4						2	4	---	---	---	---
FIP1L1	81608	broad.mit.edu	37	4	54325595	54325596	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:54325595_54325596insG	ENST00000337488.6	+	18	1958_1959	c.1764_1765insG	c.(1765-1767)gaafs	p.E589fs	FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.E515fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.E583fs|LNX1_ENST00000306888.2_3'UTR	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	589	Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGAGAGCACCGAAGCTACACC	0.401			T	PDGFRA	idiopathic hypereosinophilic syndrome																																	ENST00000337488.6				Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				large_intestine(3)|liver(1)|ovary(1)|skin(1)	6						c.(1762-1767)acaagcfs		factor interacting with PAPOLA and CPSF1																																				SO:0001589	frameshift_variant	81608				mRNA processing	nucleus	RNA binding	g.chr4:54325595_54325596insG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1765dupG	4.37:g.54325596_54325596dupG	ENSP00000336752:p.Glu589fs					FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.S515fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.S583fs|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_3'UTR	p.S589fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		18	1958_1959	+			589			Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	ENST00000337488.6	37	c.1764_1765insG	CCDS3491.1																																																																																				0.401	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		21	162						21	162	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		4	8						4	8	---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32576086	32576086	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:32576086delG	ENST00000263062.8	-	7	1361	c.1092delC	c.(1090-1092)ttcfs	p.F364fs	EPC1_ENST00000319778.6_Frame_Shift_Del_p.F364fs|EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	364					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTTAGCATTGAAGACTGGCA	0.463																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(1090-1092)ttfs		enhancer of polycomb homolog 1 (Drosophila)							155.0	138.0	144.0					10																	32576086		2203	4300	6503	SO:0001589	frameshift_variant	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32576086delG	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.1092delC	10.37:g.32576086delG	ENSP00000263062:p.Phe364fs					EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs|EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs	p.F364fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			7	1394	-		Prostate(175;0.0199)	364					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Frame_Shift_Del	DEL	ENST00000263062.8	37	c.1092delC	CCDS7172.1																																																																																				0.463	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			11	128						11	128	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-	rs143354291		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)cacaaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.5																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7897-7902)caaafs		marker of proliferation Ki-67																																				SO:0001589	frameshift_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902204_129902205delTG	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7899_7900delCA	10.37:g.129902214_129902215delTG	ENSP00000357643:p.His2633fs					MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	p.HK2633fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	8274_8275	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633			16 X 122 AA approximate repeats.		Q5VWH2	Frame_Shift_Del	DEL	ENST00000368654.3	37	c.7899_7900delCA	CCDS7659.1																																																																																				0.500	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	65						7	65	---	---	---	---
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(67-69)ggfs		caspase 5, apoptosis-related cysteine peptidase			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs	p.R24fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	98	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	11					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.67delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		8	38						8	38	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			3	4						3	4	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29118702	29118704	+	RNA	DEL	AGC	AGC	-	rs374747642		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:29118702_29118704delAGC	ENST00000562618.1	-	0	328_330				RRN3P2_ENST00000564580.1_RNA																							GCCAGGTCCAagcagcagcagca	0.66																																						ENST00000564580.1																			0																																																			0							g.chr16:29118702_29118704delAGC																													16.37:g.29118711_29118713delAGC						CTB-134H23.3_ENST00000562618.1_RNA								0	1448	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.660	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			4	6						4	6	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)cccagc>ccc	p.S617del	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	617	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1834-1839)ccc>cc		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913767_67913769delCAG	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1836_1838delCAG	16.37:g.67913776_67913778delCAG	ENSP00000351811:p.Ser617del						p.PS612del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2075_2077	+		Ovarian(137;0.0563)	612			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1836_1838delCAG	CCDS10849.1																																																																																				0.611	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		7	68						7	68	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr17:7788146_7788148delGAG	ENST00000380358.4	+	1	23_25	c.22_24delGAG	c.(22-24)gagdel	p.E14del	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.7																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(22-24)del		chromodomain helicase DNA binding protein 3				165,3171		21,123,1524						0.8	1.0			6	282,6252		34,214,3019	no	coding	CHD3	NM_001005271.2		55,337,4543	A1A1,A1R,RR		4.3159,4.946,4.5289				447,9423				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7788146_7788148delGAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.22_24delGAG	17.37:g.7788155_7788157delGAG	ENSP00000369716:p.Glu14del					LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	p.E14del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			1	23_25	+		Prostate(122;0.202)	429					D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000380358.4	37	c.22_24delGAG	CCDS32553.2																																																																																				0.700	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318052.1	NM_001005273		2	4						2	4	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		3	4						3	4	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66137569	66137570	+	RNA	INS	-	-	T	rs201335431	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr17:66137569_66137570insT	ENST00000590019.1	-	0	151									leucine rich repeat containing 37, member A16, pseudogene																		GCTTATATTCATTTTTTGTTAT	0.292													TTTTTT|TTTTTT|TTTTTTT|insertion	34	0.00678914	0.025	0.0014	5008	,	,		16179	0.0		0.0	False		,,,				2504	0.0					ENST00000590019.1																			0																																																			0							g.chr17:66137569_66137570insT			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66137575_66137575dupT														0	151	-									RNA	INS	ENST00000590019.1	37																																																																																						0.292	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			5	1						5	1	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-	rs200555648	byFrequency	TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr22:40816887_40816889delTGC	ENST00000355630.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_ENST00000407029.1_In_Frame_Del_p.Q281del|MKL1_ENST00000402042.1_In_Frame_Del_p.Q231del|MKL1_ENST00000396617.3_In_Frame_Del_p.Q281del	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(841-846)cac>ca		megakaryoblastic leukemia (translocation) 1																																				SO:0001651	inframe_deletion	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816887_40816889delTGC	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.843_845delGCA	22.37:g.40816896_40816898delTGC	ENSP00000347847:p.Gln281del					MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del	p.QH281del			Q969V6	MKL1_HUMAN			10	1433_1435	-			281			Gln-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	In_Frame_Del	DEL	ENST00000355630.3	37	c.843_845delGCA	CCDS14003.1																																																																																				0.660	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		7	86						7	86	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19389184	19389185	+	Splice_Site	INS	-	-	A	rs372545551		TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:19389184_19389185insA	ENST00000338883.4	-	24	3294		c.e24-2		MAP3K15_ENST00000518578.1_Splice_Site|MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15								ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					tttatttacctaaaaaaaaaaa	0.431																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.e24-2		mitogen-activated protein kinase kinase kinase 15																																				SO:0001630	splice_region_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19389184_19389185insA	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3295-2->T	X.37:g.19389195_19389195dupA						MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site|MAP3K15_ENST00000518578.1_Splice_Site		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			24	3294	-	Hepatocellular(33;0.183)							A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Splice_Site	INS	ENST00000338883.4	37																																																																																						0.431	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	Intron	5	9						5	9	---	---	---	---
RP11-268G12.1	0	broad.mit.edu	37	X	27406108	27406110	+	lincRNA	DEL	CCA	CCA	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:27406108_27406110delCCA	ENST00000422048.1	-	0	148																											accaacactgccaccaccaccac	0.379																																						ENST00000422048.1																			0																																																			0							g.chrX:27406108_27406110delCCA																													X.37:g.27406117_27406119delCCA														0	148	-									RNA	DEL	ENST00000422048.1	37																																																																																						0.379	RP11-268G12.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056136.1			4	2						4	2	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(91-93)del		glypican 3																																				SO:0001651	inframe_deletion	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133119384_133119386delCGG	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.91_93delCCG	X.37:g.133119393_133119395delCGG	ENSP00000359854:p.Pro31del					GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			1	536_538	-	Acute lymphoblastic leukemia(192;0.000127)		31					C9JLE3|G3V1R0|Q2L880|Q2L882	In_Frame_Del	DEL	ENST00000370818.3	37	c.91_93delCCG	CCDS14638.1																																																																																				0.690	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		2	4						2	4	---	---	---	---
