#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
NPBWR2	2832	broad.mit.edu	37	20	62737689	62737689	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr20:62737689C>T	ENST00000369768.1	-	1	835	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	166					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACAGGCTGGCGACCTTCGCC	0.647																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(496-498)Gcc>Acc		neuropeptides B/W receptor 2							23.0	24.0	24.0					20																	62737689		2195	4286	6481	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737689C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.496G>A	20.37:g.62737689C>T	ENSP00000358783:p.Ala166Thr						p.A166T	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	835	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		166					Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.496G>A	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	6.669	0.492072	0.12702	.	.	ENSG00000125522	ENST00000369768	T	0.37752	1.18	3.9	-7.69	0.01263	GPCR, rhodopsin-like superfamily (1);	0.391333	0.22884	N	0.054467	T	0.14917	0.0360	N	0.16130	0.375	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.05225	-1.0898	10	0.44086	T	0.13	.	8.4322	0.32764	0.0:0.2526:0.1122:0.6352	.	166	P48146	NPBW2_HUMAN	T	166	ENSP00000358783:A166T	ENSP00000358783:A166T	A	-	1	0	NPBWR2	62208133	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.713000	0.05007	-1.333000	0.02247	-1.174000	0.01732	GCC		0.647	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		4	26	0	0	0	1	0	4	26				
KIF23	9493	broad.mit.edu	37	15	69727846	69727846	+	Missense_Mutation	SNP	C	C	T	rs377663038		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:69727846C>T	ENST00000260363.4	+	11	1214	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	KIF23_ENST00000352331.4_Missense_Mutation_p.T366M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000559279.1_Missense_Mutation_p.T366M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	366	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCACTAATGACGCTAAGAACA	0.353																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1096-1098)aCg>aTg		kinesin family member 23		C	MET/THR,MET/THR	0,4398		0,0,2199	164.0	156.0	159.0		1097,1097	3.2	0.6	15		159	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	KIF23	NM_004856.5,NM_138555.2	81,81	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	366/857,366/961	69727846	1,12993	2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69727846C>T	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1097C>T	15.37:g.69727846C>T	ENSP00000260363:p.Thr366Met					KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000352331.4_Missense_Mutation_p.T366M|KIF23_ENST00000559279.1_Missense_Mutation_p.T366M	p.T366M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			11	1214	+			366					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1097C>T	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.472692	0.63737	0.0	1.16E-4	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.12	3.19	0.36642	Kinesin, motor domain (3);	0.097270	0.64402	D	0.000001	D	0.83321	0.5229	L	0.60012	1.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;P;D	0.72338	0.977;0.897;0.956	T	0.82629	-0.0363	10	0.87932	D	0	.	9.2067	0.37293	0.1453:0.7781:0.0:0.0765	.	183;366;366	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	M	366;366;366;183	ENSP00000260363:T366M;ENSP00000304978:T366M;ENSP00000378790:T366M;ENSP00000442969:T183M	ENSP00000260363:T366M	T	+	2	0	KIF23	67514900	0.972000	0.33761	0.632000	0.29296	0.629000	0.37895	2.428000	0.44749	0.626000	0.30322	0.591000	0.81541	ACG		0.353	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				15	53	0	0	0	1	0	15	53				
TOP3A	7156	broad.mit.edu	37	17	18181116	18181116	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr17:18181116G>T	ENST00000321105.5	-	18	2914	c.2700C>A	c.(2698-2700)agC>agA	p.S900R	TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R|TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	900	2 X 27 AA approximate repeats.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGAGGGCTGGCTGCAAAGGC	0.622																																						ENST00000321105.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(2698-2700)agC>agA		topoisomerase (DNA) III alpha							79.0	71.0	74.0					17																	18181116		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18181116G>T	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2700C>A	17.37:g.18181116G>T	ENSP00000321636:p.Ser900Arg					TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R|TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R	p.S900R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN			18	2914	-			900			2 X 27 AA approximate repeats.		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2700C>A	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	G	3.253	-0.152814	0.06585	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.21734	1.99;1.99;1.99	5.65	1.36	0.22044	Zinc finger, GRF-type (1);	0.313694	0.41938	D	0.000799	T	0.09555	0.0235	N	0.11927	0.2	0.22873	N	0.998621	B;B	0.14805	0.011;0.011	B;B	0.14578	0.011;0.011	T	0.34725	-0.9817	10	0.19147	T	0.46	-15.1721	7.7571	0.28930	0.1965:0.3032:0.5002:0.0	.	805;900	B4DK80;Q13472	.;TOP3A_HUMAN	R	900;430;805	ENSP00000321636:S900R;ENSP00000446425:S430R;ENSP00000442336:S805R	ENSP00000321636:S900R	S	-	3	2	TOP3A	18121841	0.904000	0.30761	0.996000	0.52242	0.025000	0.11179	-0.015000	0.12634	0.054000	0.16065	-0.311000	0.09066	AGC		0.622	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			23	45	1	0	1.10513e-12	1	1.23909e-12	23	45				
CHRFAM7A	89832	broad.mit.edu	37	15	30664498	30664498	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:30664498C>A	ENST00000299847.2	-	7	828	c.375G>T	c.(373-375)gaG>gaT	p.E125D	CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.E34D	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	125						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CAGGGTAGGGCTCTTTGCAGC	0.542																																						ENST00000397827.3																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(100-102)gaG>gaT		CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion							84.0	81.0	82.0					15																	30664498		1662	3573	5235	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30664498C>A	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.375G>T	15.37:g.30664498C>A	ENSP00000299847:p.Glu125Asp					CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.E125D|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D	p.E34D	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	6	876	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	125					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.102G>T	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	12.79	2.042230	0.35989	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	T;T;T	0.78003	-1.14;-1.14;-1.14	2.73	1.78	0.24846	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.71206	2.165	0.58432	D	0.999999	D	0.65815	0.995	D	0.72982	0.979	T	0.80379	-0.1407	10	0.66056	D	0.02	.	5.3694	0.16131	0.0:0.7014:0.0:0.2986	.	125	Q494W8	CRFM7_HUMAN	D	125;34;34	ENSP00000299847:E125D;ENSP00000380927:E34D;ENSP00000385389:E34D	ENSP00000299847:E125D	E	-	3	2	CHRFAM7A	28451790	0.999000	0.42202	0.998000	0.56505	0.211000	0.24417	0.646000	0.24797	0.438000	0.26450	0.398000	0.26397	GAG		0.542	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		10	27	1	0	0.000442599	1	0.000467891	10	27				
FES	2242	broad.mit.edu	37	15	91433669	91433669	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:91433669G>C	ENST00000328850.3	+	10	1417	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000448367.1_3'UTR|FES_ENST00000394300.3_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D|FES_ENST00000444422.2_Missense_Mutation_p.E425D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	425					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCACGCTGGAGATCCTTAAGA	0.612																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1273-1275)gaG>gaC		feline sarcoma oncogene							51.0	47.0	49.0					15																	91433669		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91433669G>C	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1275G>C	15.37:g.91433669G>C	ENSP00000331504:p.Glu425Asp					FES_ENST00000444422.2_Missense_Mutation_p.E425D|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000394300.3_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D	p.E425D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	Lung(145;0.229)		10	1417	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		425					B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.1275G>C	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.758416	0.49468	.	.	ENSG00000182511	ENST00000328850;ENST00000414248;ENST00000394302;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T	0.76186	-0.86;-0.84;-1.0;-0.83;-0.86;-0.84	5.04	0.841	0.18918	.	0.490235	0.21909	N	0.067335	T	0.69441	0.3111	L	0.28274	0.84	0.19575	N	0.999962	B;D;P;B;D;B	0.61080	0.002;0.971;0.905;0.005;0.989;0.004	B;P;B;B;P;B	0.58780	0.006;0.717;0.444;0.013;0.845;0.006	T	0.60244	-0.7301	10	0.34782	T	0.22	-44.4779	8.3314	0.32189	0.4915:0.0:0.5085:0.0	.	407;367;367;367;425;425	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	D	425;367;367;425;367;367	ENSP00000331504:E425D;ENSP00000414629:E367D;ENSP00000377839:E367D;ENSP00000400868:E425D;ENSP00000377837:E367D;ENSP00000409915:E367D	ENSP00000331504:E425D	E	+	3	2	FES	89234673	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.066000	0.30604	0.321000	0.23259	0.650000	0.86243	GAG		0.612	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		22	41	0	0	0	1	0	22	41				
XIRP1	165904	broad.mit.edu	37	3	39225411	39225411	+	Silent	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:39225411G>A	ENST00000340369.3	-	2	5754	c.5526C>T	c.(5524-5526)gcC>gcT	p.A1842A	XIRP1_ENST00000421646.1_Silent_p.A525A|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1842	Interaction with FLNC.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCCTCACTGGGCAGCTGGCT	0.637																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(5524-5526)gcC>gcT		xin actin-binding repeat containing 1							31.0	33.0	32.0					3																	39225411		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39225411G>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5526C>T	3.37:g.39225411G>A						XIRP1_ENST00000421646.1_Silent_p.A525A|XIRP1_ENST00000396251.1_3'UTR	p.A1842A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	5754	-			1842			Interaction with FLNC.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.5526C>T	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		10	13	0	0	0	1	0	10	13				
UAP1	6675	broad.mit.edu	37	1	162560139	162560139	+	Missense_Mutation	SNP	G	G	A	rs146235126		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:162560139G>A	ENST00000367925.1	+	7	1228	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q|UAP1_ENST00000271469.3_Missense_Mutation_p.R399Q|UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|RP11-359K18.4_ENST00000609669.1_RNA			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	399					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAGTATTGCGAGAAGATGAG	0.398																																						ENST00000271469.3																			0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(1195-1197)cGa>cAa		UDP-N-acteylglucosamine pyrophosphorylase 1		G	GLN/ARG	0,4406		0,0,2203	181.0	177.0	178.0		1196	4.0	1.0	1	dbSNP_134	178	1,8599	1.2+/-3.3	0,1,4299	no	missense	UAP1	NM_003115.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	399/506	162560139	1,13005	2203	4300	6503	SO:0001583	missense	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162560139G>A	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.1196G>A	1.37:g.162560139G>A	ENSP00000356902:p.Arg399Gln					UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q|UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367925.1_Missense_Mutation_p.R399Q	p.R399Q			Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		8	1498	+	all_hematologic(112;0.115)		399					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Missense_Mutation	SNP	ENST00000367925.1	37	c.1196G>A		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656695	0.88154	0.0	1.16E-4	ENSG00000117143	ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.93	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	H	0.95950	3.745	0.58432	D	0.999997	D	0.76494	0.999	P	0.58130	0.833	T	0.76724	-0.2854	9	0.87932	D	0	-16.1581	12.3546	0.55167	0.0819:0.0:0.9181:0.0	.	399	Q16222-2	.	Q	399	ENSP00000356903:R399Q;ENSP00000271469:R399Q;ENSP00000356902:R399Q;ENSP00000356901:R399Q	ENSP00000271469:R399Q	R	+	2	0	UAP1	160826763	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.440000	0.97547	1.321000	0.45227	-0.119000	0.15052	CGA		0.398	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115		8	128	0	0	0	1	0	8	128				
ARHGAP39	80728	broad.mit.edu	37	8	145806482	145806482	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:145806482G>A	ENST00000276826.5	-	2	461	c.260C>T	c.(259-261)aCg>aTg	p.T87M	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|CTD-2517M22.9_ENST00000529377.1_RNA			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	87	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTGCGCTGCGTGCTGGCATT	0.682																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(259-261)aCg>aTg		Rho GTPase activating protein 39							24.0	24.0	24.0					8																	145806482		2196	4296	6492	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806482G>A		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.260C>T	8.37:g.145806482G>A	ENSP00000276826:p.Thr87Met					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M	p.T87M			Q9C0H5	RHG39_HUMAN			2	461	-			87			WW 2.		B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.260C>T		.	.	.	.	.	.	.	.	.	.	G	19.37	3.815519	0.70912	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	D;D;D	0.94497	-3.44;-3.44;-3.44	5.39	5.39	0.77823	WW/Rsp5/WWP (4);	0.376641	0.25912	N	0.027499	D	0.96473	0.8849	M	0.83012	2.62	0.09310	N	1	D;D	0.57571	0.98;0.976	P;P	0.59643	0.861;0.782	D	0.92103	0.5690	10	0.72032	D	0.01	-3.5451	11.6944	0.51536	0.0:0.0:0.8231:0.1769	.	87;87	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	M	87	ENSP00000276826:T87M;ENSP00000366522:T87M;ENSP00000445075:T87M	ENSP00000276826:T87M	T	-	2	0	ARHGAP39	145777290	1.000000	0.71417	0.192000	0.23308	0.991000	0.79684	3.572000	0.53849	2.524000	0.85096	0.446000	0.29264	ACG		0.682	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			3	8	0	0	0	1	0	3	8				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	34	0	0	0	1	0	5	34				
SLITRK5	26050	broad.mit.edu	37	13	88327979	88327979	+	Silent	SNP	A	A	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:88327979A>T	ENST00000325089.6	+	2	555	c.336A>T	c.(334-336)ctA>ctT	p.L112L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	112					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTTTGCATCTAGGTAGCAATG	0.458																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(334-336)ctA>ctT		SLIT and NTRK-like family, member 5							115.0	122.0	120.0					13																	88327979		2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327979A>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.336A>T	13.37:g.88327979A>T						SLITRK5_ENST00000400028.3_Intron	p.L112L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	555	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		112					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.336A>T	CCDS9465.1																																																																																				0.458	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			73	129	0	0	0	1	0	73	129				
COPB1	1315	broad.mit.edu	37	11	14515905	14515905	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:14515905G>C	ENST00000249923.3	-	3	472	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	58					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTCATCAGAAGTCCAGGAAGT	0.333																																						ENST00000249923.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						c.(172-174)Ctt>Gtt		coatomer protein complex, subunit beta 1							101.0	98.0	99.0					11																	14515905		2200	4294	6494	SO:0001583	missense	1315				COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	g.chr11:14515905G>C	BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.172C>G	11.37:g.14515905G>C	ENSP00000249923:p.Leu58Val					PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V	p.L58V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN			3	472	-			58					D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Missense_Mutation	SNP	ENST00000249923.3	37	c.172C>G	CCDS7815.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961793	0.92791	.	.	ENSG00000129083	ENST00000249923;ENST00000439561;ENST00000534234;ENST00000529866;ENST00000534771	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.58	5.58	0.84498	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	M	0.85859	2.78	0.80722	D	1	P	0.50272	0.933	P	0.53102	0.718	T	0.61491	-0.7052	10	0.62326	D	0.03	-8.1786	19.5796	0.95461	0.0:0.0:1.0:0.0	.	58	P53618	COPB_HUMAN	V	58	ENSP00000249923:L58V;ENSP00000397873:L58V;ENSP00000436383:L58V;ENSP00000431530:L58V;ENSP00000436401:L58V	ENSP00000249923:L58V	L	-	1	0	COPB1	14472481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.624000	0.88883	0.655000	0.94253	CTT		0.333	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386410.1	NM_016451		35	71	0	0	0	1	0	35	71				
SLC10A2	6555	broad.mit.edu	37	13	103710695	103710695	+	Missense_Mutation	SNP	C	C	T	rs200749358		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:103710695C>T	ENST00000245312.3	-	2	1011	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	139					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGCATCATTCCGAGGGCAAGC	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.0		0.0	False		,,,				2504	0.001					ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(415-417)Gga>Aga		solute carrier family 10 (sodium/bile acid cotransporter), member 2							120.0	99.0	106.0					13																	103710695		2203	4300	6503	SO:0001583	missense	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103710695C>T	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.415G>A	13.37:g.103710695C>T	ENSP00000245312:p.Gly139Arg						p.G139R	NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			2	1011	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		139					A1L4F4|Q13839	Missense_Mutation	SNP	ENST00000245312.3	37	c.415G>A	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644454	0.87859	.	.	ENSG00000125255	ENST00000245312	T	0.12255	2.7	5.74	5.74	0.90152	.	0.048401	0.85682	D	0.000000	T	0.49575	0.1565	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.58434	-0.7637	10	0.66056	D	0.02	-16.3696	18.4783	0.90800	0.0:1.0:0.0:0.0	.	139	Q12908	NTCP2_HUMAN	R	139	ENSP00000245312:G139R	ENSP00000245312:G139R	G	-	1	0	SLC10A2	102508696	1.000000	0.71417	0.983000	0.44433	0.479000	0.33129	5.801000	0.69115	2.873000	0.98535	0.563000	0.77884	GGA		0.473	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			15	32	0	0	0	1	0	15	32				
PODXL	5420	broad.mit.edu	37	7	131191446	131191446	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr7:131191446A>T	ENST00000378555.3	-	6	1388	c.1141T>A	c.(1141-1143)Tgc>Agc	p.C381S	PODXL_ENST00000322985.9_Missense_Mutation_p.C349S|PODXL_ENST00000537928.1_Missense_Mutation_p.C349S|PODXL_ENST00000541194.1_Missense_Mutation_p.C383S			O00592	PODXL_HUMAN	podocalyxin-like	381					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGCTCGGCATATCAGTGAG	0.587											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1147-1149)Tgc>Agc		podocalyxin-like							142.0	132.0	135.0					7																	131191446		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131191446A>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.1141T>A	7.37:g.131191446A>T	ENSP00000367817:p.Cys381Ser		OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1585	PODXL_ENST00000322985.9_Missense_Mutation_p.C349S|PODXL_ENST00000378555.3_Missense_Mutation_p.C381S|PODXL_ENST00000537928.1_Missense_Mutation_p.C349S	p.C383S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			6	1404	-	Melanoma(18;0.162)		381					A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.1147T>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.937057	0.73557	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	L	0.55481	1.735	0.42388	D	0.992515	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.55630	-0.8111	10	0.87932	D	0	-24.8875	10.2338	0.43270	1.0:0.0:0.0:0.0	.	349;381	O00592-2;O00592	.;PODXL_HUMAN	S	383;349;339;381;349	ENSP00000440518:C383S;ENSP00000442655:C349S;ENSP00000367817:C381S;ENSP00000319782:C349S	ENSP00000319782:C349S	C	-	1	0	PODXL	130841986	0.966000	0.33281	0.578000	0.28575	0.022000	0.10575	3.528000	0.53524	1.682000	0.51000	0.459000	0.35465	TGC		0.587	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		53	94	0	0	0	1	0	53	94				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	60	0	0	0	1	0	35	60				
AMBP	259	broad.mit.edu	37	9	116823806	116823806	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:116823806C>T	ENST00000265132.3	-	8	1013	c.751G>A	c.(751-753)Ggt>Agt	p.G251S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	251	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ATGGATGTACCATTATAGAAA	0.557																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(751-753)Ggt>Agt		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)						76.0	72.0	73.0					9																	116823806		2203	4300	6503	SO:0001583	missense	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823806C>T	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.751G>A	9.37:g.116823806C>T	ENSP00000265132:p.Gly251Ser						p.G251S	NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN			8	1013	-			251			BPTI/Kunitz inhibitor 1.		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	ENST00000265132.3	37	c.751G>A	CCDS6800.1	.	.	.	.	.	.	.	.	.	.	C	0.346	-0.947666	0.02304	.	.	ENSG00000106927	ENST00000265132;ENST00000540645	T	0.54479	0.57	5.68	3.83	0.44106	Proteinase inhibitor I2, Kunitz metazoa (5);	0.423434	0.28393	N	0.015505	T	0.16128	0.0388	N	0.01146	-0.985	0.09310	N	1	P;B	0.39094	0.659;0.283	B;B	0.36567	0.228;0.086	T	0.37619	-0.9698	10	0.02654	T	1	.	4.6102	0.12399	0.1763:0.6476:0.0:0.1761	.	192;251	B7Z8R6;P02760	.;AMBP_HUMAN	S	251;192	ENSP00000265132:G251S	ENSP00000265132:G251S	G	-	1	0	AMBP	115863627	0.870000	0.30015	0.029000	0.17559	0.336000	0.28762	1.877000	0.39598	1.393000	0.46605	0.655000	0.94253	GGT		0.557	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		4	81	0	0	0	1	0	4	81				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		3	23	0	0	0	1	0	3	23				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	41	0	0	0	1	0	5	41				
RIBC2	26150	broad.mit.edu	37	22	45826809	45826809	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr22:45826809C>G	ENST00000342894.3	+	6	1128	c.714C>G	c.(712-714)gaC>gaG	p.D238E	RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	238						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCAGCGAGACCTGGACTGGG	0.642																																						ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(712-714)gaC>gaG		RIB43A domain with coiled-coils 2							14.0	16.0	15.0					22																	45826809		2202	4300	6502	SO:0001583	missense	26150							g.chr22:45826809C>G	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.714C>G	22.37:g.45826809C>G	ENSP00000342529:p.Asp238Glu					RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E|RIBC2_ENST00000466226.1_3'UTR	p.D238E			Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	6	1128	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	238					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.714C>G		.	.	.	.	.	.	.	.	.	.	c	3.201	-0.163728	0.06502	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.20598	2.06;2.06	3.9	1.81	0.25067	.	0.337042	0.30134	N	0.010327	T	0.06781	0.0173	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.25884	0.064	T	0.38908	-0.9639	9	0.02654	T	1	-6.2088	3.7934	0.08730	0.0:0.5095:0.1835:0.307	.	238	Q9H4K1	RIBC2_HUMAN	E	238;306	ENSP00000342529:D238E;ENSP00000444196:D306E	ENSP00000342529:D238E	D	+	3	2	RIBC2	44205473	0.106000	0.21978	0.338000	0.25549	0.570000	0.35934	0.463000	0.21972	0.347000	0.23924	-0.119000	0.15052	GAC		0.642	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		5	14	0	0	0	1	0	5	14				
LOC644669	644669	broad.mit.edu	37	18	15323336	15323336	+	RNA	SNP	G	G	A	rs199831831		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr18:15323336G>A	ENST00000455308.2	-	0	512				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						TTTCCTTATGGCCAATAAAAG	0.289													G|||	1	0.000199681	0.0	0.0	5008	,	,		16958	0.0		0.001	False		,,,				2504	0.0					ENST00000455308.2																			0																																																			0							g.chr18:15323336G>A																													18.37:g.15323336G>A								NR_027417.1						0	512	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.289	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			3	20	0	0	0	1	0	3	20				
PCSK5	5125	broad.mit.edu	37	9	78953152	78953152	+	Silent	SNP	C	C	T	rs375144439		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:78953152C>T	ENST00000545128.1	+	34	5212	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1558	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGATATTACGCAGACAACT	0.488																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(4672-4674)taC>taT		proprotein convertase subtilisin/kexin type 5		C		0,1752		0,0,876	26.0	24.0	25.0		4674	-11.3	0.1	9		25	1,3981		0,1,1990	no	coding-synonymous	PCSK5	NM_001190482.1		0,1,2866	TT,TC,CC		0.0251,0.0,0.0174		1558/1861	78953152	1,5733	876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78953152C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4674C>T	9.37:g.78953152C>T							p.Y1558Y	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			34	5212	+			729					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.4674C>T	CCDS55320.1																																																																																				0.488	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	15	0	0	0	1	0	11	15				
IQGAP2	10788	broad.mit.edu	37	5	75871579	75871579	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr5:75871579G>A	ENST00000274364.6	+	5	740	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	148	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGATATATTGCATTCACGCA	0.294																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(442-444)tGc>tAc		IQ motif containing GTPase activating protein 2							49.0	53.0	52.0					5																	75871579		2203	4298	6501	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75871579G>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.443G>A	5.37:g.75871579G>A	ENSP00000274364:p.Cys148Tyr					IQGAP2_ENST00000379730.3_5'UTR	p.C148Y	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	5	740	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	148			CH.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.443G>A	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141602	0.77775	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	D;D;D	0.94897	-3.55;-3.55;-3.55	5.51	5.51	0.81932	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98134	0.9384	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99184	1.0868	10	0.87932	D	0	-13.3545	18.183	0.89785	0.0:0.0:1.0:0.0	.	148	Q13576	IQGA2_HUMAN	Y	148;121;98	ENSP00000274364:C148Y;ENSP00000423672:C121Y;ENSP00000421097:C98Y	ENSP00000274364:C148Y	C	+	2	0	IQGAP2	75907335	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.339000	0.90041	2.585000	0.87301	0.557000	0.71058	TGC		0.294	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		4	49	0	0	0	1	0	4	49				
ZNF324	25799	broad.mit.edu	37	19	58982998	58982998	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:58982998G>A	ENST00000536459.2	+	4	1848	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF446_ENST00000596341.1_5'Flank|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H			O75467	Z324A_HUMAN	zinc finger protein 324	380					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(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCTTCTGCCGCAACTCGCAC	0.657																																						ENST00000536459.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16						c.(1138-1140)cGc>cAc		zinc finger protein 324							19.0	18.0	19.0					19																	58982998		2195	4288	6483	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982998G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.1139G>A	19.37:g.58982998G>A	ENSP00000444812:p.Arg380His					ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H	p.R380H			O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1848	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	380					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.1139G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402979	0.42613	.	.	ENSG00000083812	ENST00000196482;ENST00000536459;ENST00000539101;ENST00000535298	T;T;T	0.07327	3.2;3.2;3.2	3.66	3.66	0.41972	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000724	T	0.03915	0.0110	L	0.38838	1.175	0.39805	D	0.972621	P	0.49307	0.922	B	0.27262	0.078	T	0.47661	-0.9100	10	0.14252	T	0.57	.	7.1954	0.25849	0.1192:0.0:0.8808:0.0	.	380	O75467	Z324A_HUMAN	H	380;380;370;157	ENSP00000196482:R380H;ENSP00000444812:R380H;ENSP00000439588:R157H	ENSP00000196482:R380H	R	+	2	0	ZNF324	63674810	0.000000	0.05858	1.000000	0.80357	0.939000	0.58152	0.263000	0.18478	2.330000	0.79161	0.400000	0.26472	CGC		0.657	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		3	25	0	0	0	1	0	3	25				
MUC2	4583	broad.mit.edu	37	11	1095756	1095756	+	Silent	SNP	G	G	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:1095756G>T	ENST00000441003.2	+	33	6294	c.6267G>T	c.(6265-6267)ccG>ccT	p.P2089P	MUC2_ENST00000361558.6_Silent_p.P227P|MUC2_ENST00000333592.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4451					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGAGCCGCCGCCCATGCCCA	0.657																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6265-6267)ccG>ccT		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						42.0	54.0	50.0					11																	1095756		2164	4239	6403	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1095756G>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6267G>T	11.37:g.1095756G>T						MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.P227P	p.P2089P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	33	6294	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4451					Q14878	Silent	SNP	ENST00000441003.2	37	c.6267G>T																																																																																					0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	20	1	0	1	1	1	3	20				
APAF1	317	broad.mit.edu	37	12	99059486	99059486	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:99059486A>T	ENST00000551964.1	+	8	1847	c.1111A>T	c.(1111-1113)Agt>Tgt	p.S371C	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000357310.1_Missense_Mutation_p.S371C	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	371	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CATGTCTATAAGTGTTGAAAT	0.383																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(1111-1113)Agt>Tgt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						78.0	77.0	77.0					12																	99059486		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99059486A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.1111A>T	12.37:g.99059486A>T	ENSP00000448165:p.Ser371Cys					APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000551964.1_Missense_Mutation_p.S371C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C	p.S371C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			8	1688	+			371			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.1111A>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.151253	0.78001	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	D;D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.14	5.14	0.70334	NB-ARC (1);	0.037203	0.85682	D	0.000000	D	0.91747	0.7390	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.995	D	0.92721	0.6191	10	0.72032	D	0.01	-14.2364	14.9517	0.71080	1.0:0.0:0.0:0.0	.	371;360;371;360	O14727-4;O14727-3;O14727;O14727-2	.;.;APAF_HUMAN;.	C	371;360;371;371;360;371;371	ENSP00000448165:S371C;ENSP00000353059:S360C;ENSP00000349862:S371C;ENSP00000341830:S371C;ENSP00000448449:S360C;ENSP00000449791:S371C;ENSP00000448161:S371C	ENSP00000341830:S371C	S	+	1	0	APAF1	97583617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.153000	0.77428	1.943000	0.56356	0.528000	0.53228	AGT		0.383	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		13	39	0	0	0	1	0	13	39				
PBX1	5087	broad.mit.edu	37	1	164532483	164532483	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:164532483C>A	ENST00000420696.2	+	2	388	c.200C>A	c.(199-201)gCt>gAt	p.A67D	PBX1_ENST00000540236.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D|PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	67					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGAAAACATGCTTTAAACTGC	0.363			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																	ENST00000420696.2				Dom	yes		1	1q23	5087	T	pre-B-cell leukemia transcription factor 1			"""L, M"""	"""TCF3, EWSR1"""		"""pre B-ALL, myoepithelioma"""	EWSR1/PBX1(3)	0				large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(199-201)gCt>gAt		pre-B-cell leukemia homeobox 1							120.0	124.0	123.0					1																	164532483		2203	4300	6503	SO:0001583	missense	5087				negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:164532483C>A	M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.200C>A	1.37:g.164532483C>A	ENSP00000405890:p.Ala67Asp					PBX1_ENST00000540236.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D|PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D	p.A67D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN			2	388	+			67					B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	ENST00000420696.2	37	c.200C>A	CCDS1246.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120625	0.77323	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	6.14	6.14	0.99180	PBX (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	M	0.68952	2.095	0.09310	N	1.0	P;P;P	0.51791	0.948;0.924;0.924	P;P;P	0.60068	0.733;0.826;0.868	T	0.33828	-0.9853	9	0.66056	D	0.02	-7.0195	20.4548	0.99139	0.0:1.0:0.0:0.0	.	67;67;67	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	D	67	ENSP00000341455:A67D;ENSP00000405890:A67D;ENSP00000356872:A67D;ENSP00000439943:A67D;ENSP00000384856:A67D	ENSP00000341455:A67D	A	+	2	0	PBX1	162799107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.338000	0.79269	2.937000	0.99478	0.650000	0.86243	GCT		0.363	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082864.4	NM_002585		4	229	1	0	1	1	1	4	229				
CELSR3	1951	broad.mit.edu	37	3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	rs144228630		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:48696782C>T	ENST00000164024.4	-	1	3566	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K	CELSR3_ENST00000544264.1_Missense_Mutation_p.E1096K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1096	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(3286-3288)Gaa>Aaa		cadherin, EGF LAG seven-pass G-type receptor 3		C	LYS/GLU	0,4406		0,0,2203	90.0	88.0	89.0		3286	4.9	1.0	3	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR3	NM_001407.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1096/3313	48696782	1,13005	2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48696782C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.3286G>A	3.37:g.48696782C>T	ENSP00000164024:p.Glu1096Lys					CELSR3_ENST00000164024.4_Missense_Mutation_p.E1096K	p.E1096K			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	3566	-			1096			Cadherin 8.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.3286G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699630	0.68501	0.0	1.16E-4	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52295	0.67;0.67	5.78	4.89	0.63831	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62196	0.2408	M	0.62723	1.935	0.58432	D	0.999999	D;P	0.60160	0.987;0.867	P;B	0.58721	0.844;0.214	T	0.65434	-0.6169	9	0.54805	T	0.06	.	16.1525	0.81632	0.1346:0.8654:0.0:0.0	.	1096;1166	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	1096	ENSP00000164024:E1096K;ENSP00000445694:E1096K	ENSP00000164024:E1096K	E	-	1	0	CELSR3	48671786	1.000000	0.71417	0.986000	0.45419	0.966000	0.64601	6.089000	0.71384	1.428000	0.47296	0.561000	0.74099	GAA		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		4	96	0	0	0	1	0	4	96				
CRISPLD1	83690	broad.mit.edu	37	8	75937819	75937819	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:75937819A>G	ENST00000262207.4	+	13	1751	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R|RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	428	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAAATCCACATTATGCTCGT	0.279																																						ENST00000262207.4																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1282-1284)cAt>cGt		cysteine-rich secretory protein LCCL domain containing 1							107.0	94.0	98.0					8																	75937819		2203	4296	6499	SO:0001583	missense	83690					extracellular region		g.chr8:75937819A>G	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1283A>G	8.37:g.75937819A>G	ENSP00000262207:p.His428Arg					CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R	p.H428R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		13	1751	+	Breast(64;0.0799)		428			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1283A>G	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954371	0.73902	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;T	0.81078	0.34;-1.15;-1.45	5.54	5.54	0.83059	LCCL (5);	0.056022	0.64402	D	0.000001	T	0.80347	0.4606	N	0.17278	0.47	0.45194	D	0.998207	D;B	0.60160	0.987;0.44	D;B	0.72982	0.979;0.34	T	0.75827	-0.3180	10	0.12103	T	0.63	.	15.8422	0.78857	1.0:0.0:0.0:0.0	.	242;428	B7Z929;Q9H336	.;CRLD1_HUMAN	R	428;240;242	ENSP00000262207:H428R;ENSP00000430105:H240R;ENSP00000429746:H242R	ENSP00000262207:H428R	H	+	2	0	CRISPLD1	76100374	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.350000	0.73017	2.323000	0.78572	0.528000	0.53228	CAT		0.279	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		7	126	0	0	0	1	0	7	126				
CLIP1	6249	broad.mit.edu	37	12	122862135	122862135	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:122862135G>A	ENST00000540338.1	-	2	499	c.458C>T	c.(457-459)aCg>aTg	p.T153M	CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M|CLIP1_ENST00000358808.2_Missense_Mutation_p.T153M|CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	153	Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CATGCTGGCCGTAGAAGTGCA	0.557																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(457-459)aCg>aTg		CAP-GLY domain containing linker protein 1							167.0	147.0	154.0					12																	122862135		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122862135G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.458C>T	12.37:g.122862135G>A	ENSP00000439093:p.Thr153Met					CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M|CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M|CLIP1_ENST00000540338.1_Missense_Mutation_p.T153M	p.T153M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	3	612	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		153			Ser-rich.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.458C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	g	7.208	0.594803	0.13875	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338;ENST00000540304;ENST00000537004	T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.81	1.43	0.22495	Cytoskeleton-associated protein, Gly-rich domain (1);	0.825750	0.11317	N	0.576481	T	0.55081	0.1898	N	0.16478	0.41	0.09310	N	1	B;B;B;B	0.25563	0.129;0.013;0.002;0.004	B;B;B;B	0.18263	0.021;0.012;0.005;0.007	T	0.44329	-0.9335	10	0.46703	T	0.11	-0.0589	7.1557	0.25637	0.2793:0.1203:0.6004:0.0	.	153;153;153;153	F6VGP8;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	M	153	ENSP00000303585:T153M;ENSP00000351665:T153M;ENSP00000445531:T153M;ENSP00000439093:T153M;ENSP00000437786:T153M;ENSP00000441409:T153M	ENSP00000303585:T153M	T	-	2	0	CLIP1	121428088	0.145000	0.22656	0.000000	0.03702	0.260000	0.26232	2.609000	0.46317	0.379000	0.24794	0.586000	0.80456	ACG		0.557	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		4	152	0	0	0	1	0	4	152				
KMT2C	58508	broad.mit.edu	37	7	151848004	151848004	+	Missense_Mutation	SNP	G	G	A	rs537579296	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr7:151848004G>A	ENST00000262189.6	-	51	12973	c.12755C>T	c.(12754-12756)gCg>gTg	p.A4252V	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Missense_Mutation_p.A4309V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4252					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGTTTTTCGCTTGTGCAGT	0.388													g|||	3	0.000599042	0.0	0.0	5008	,	,		17550	0.0		0.0	False		,,,				2504	0.0031					ENST00000355193.2																			0											c.(12925-12927)gCg>gTg		lysine (K)-specific methyltransferase 2C							119.0	99.0	106.0					7																	151848004		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151848004G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12755C>T	7.37:g.151848004G>A	ENSP00000262189:p.Ala4252Val					KMT2C_ENST00000262189.6_Missense_Mutation_p.A4252V	p.A4309V							52	13144	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12926C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	g	9.441	1.087968	0.20390	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.88741	-1.76;-1.74;-2.42	5.15	2.14	0.27477	.	0.172150	0.26650	N	0.023214	T	0.81153	0.4763	L	0.60455	1.87	0.80722	D	1	P;B;B	0.41710	0.76;0.176;0.176	B;B;B	0.31191	0.125;0.022;0.035	T	0.75167	-0.3413	10	0.15952	T	0.53	.	9.9682	0.41738	0.1436:0.1252:0.7313:0.0	.	4252;3370;4309	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	V	4252;4309;869	ENSP00000262189:A4252V;ENSP00000347325:A4309V;ENSP00000410411:A869V	ENSP00000262189:A4252V	A	-	2	0	MLL3	151478937	1.000000	0.71417	0.991000	0.47740	0.530000	0.34684	1.905000	0.39878	0.589000	0.29677	-0.224000	0.12420	GCG		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			24	38	0	0	0	1	0	24	38				
HYDIN	54768	broad.mit.edu	37	16	70917932	70917932	+	Silent	SNP	G	G	A	rs141625832	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:70917932G>A	ENST00000393567.2	-	59	10020	c.9870C>T	c.(9868-9870)gaC>gaT	p.D3290D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3290					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCCCATGGCGTCAGCCACAC	0.567													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21695	0.0		0.0	False		,,,				2504	0.0					ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9868-9870)gaC>gaT		HYDIN, axonemal central pair apparatus protein							54.0	53.0	53.0					16																	70917932		2068	4224	6292	SO:0001819	synonymous_variant	54768							g.chr16:70917932G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9870C>T	16.37:g.70917932G>A							p.D3290D	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			59	10020	-		Ovarian(137;0.0654)	3290					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.9870C>T	CCDS59269.1																																																																																				0.567	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	29	0	0	0	1	0	7	29				
RP11-206L10.10	0	broad.mit.edu	37	1	745643	745643	+	RNA	DEL	C	C	-	rs200097270	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:745643delC	ENST00000435300.1	-	0	340				RP11-206L10.8_ENST00000447500.1_RNA																							TTCAAAGTGACAGACTGTGGG	0.299													|||unknown(NO_COVERAGE)	135	0.0269569	0.0234	0.0288	5008	,	,		20667	0.0		0.0417	False		,,,				2504	0.0429					ENST00000435300.1																			0																																																			0							g.chr1:745643delC																													1.37:g.745643delC														0	340	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			3	3						3	3	---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-	rs369776228		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:78428470_78428471delTA	ENST00000370768.2	-	14	1409_1410	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1327-1329)afs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428470_78428471delTA	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1328_1329delTA	1.37:g.78428470_78428471delTA	ENSP00000359804:p.Ile443fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs	p.I443fs			Q96AE4	FUBP1_HUMAN			14	1415_1416	-			443			KH 4.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1328_1329delTA	CCDS683.1																																																																																				0.337	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		37	35						37	35	---	---	---	---
EFNA3	1944	broad.mit.edu	37	1	155058898	155058898	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:155058898A>G	ENST00000368408.3	+	5	666	c.596A>G	c.(595-597)gAg>gGg	p.E199G	EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G|EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	199					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGACTTTGAGGGAGAGAAC	0.637											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(595-597)gAg>gGg		ephrin-A3							78.0	75.0	76.0					1																	155058898		2203	4300	6503	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058898A>G	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.596A>G	1.37:g.155058898A>G	ENSP00000357393:p.Glu199Gly		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G	p.E199G	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	666	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		199					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.596A>G	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	A	7.573	0.667233	0.14710	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.96232	-3.5;-3.47;-3.95;-3.5	4.34	1.91	0.25777	.	0.140815	0.46442	N	0.000290	T	0.79034	0.4378	N	0.08118	0	0.33655	D	0.608996	B;P;B	0.37864	0.028;0.61;0.056	B;B;B	0.32393	0.004;0.145;0.054	T	0.74447	-0.3662	10	0.40728	T	0.16	-14.2644	4.7814	0.13204	0.7385:0.0:0.0954:0.1661	.	173;194;199	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	G	194;199;173;194	ENSP00000450814:E194G;ENSP00000357393:E199G;ENSP00000391370:E173G;ENSP00000426741:E194G	ENSP00000357393:E199G	E	+	2	0	RP11-540D14.8;EFNA3	153325522	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	3.864000	0.56024	0.267000	0.21916	-0.464000	0.05259	GAG		0.637	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		19	38	0	0	0	1	0	19	38				
GREB1	9687	broad.mit.edu	37	2	11778832	11778833	+	Frame_Shift_Del	DEL	TT	TT	-	rs372034136		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:11778832_11778833delTT	ENST00000381486.2	+	32	5883_5884	c.5583_5584delTT	c.(5581-5586)tctttafs	p.L1862fs	GREB1_ENST00000396123.1_Frame_Shift_Del_p.L860fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.L1862fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1862						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCCCACTCTTTAAACATCAG	0.426																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5581-5586)tctafs		growth regulation by estrogen in breast cancer 1																																				SO:0001589	frameshift_variant	9687					integral to membrane		g.chr2:11778832_11778833delTT		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5583_5584delTT	2.37:g.11778832_11778833delTT	ENSP00000370896:p.Leu1862fs					GREB1_ENST00000396123.1_Frame_Shift_Del_p.SL859fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.SL1861fs	p.SL1861fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	32	5883_5884	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1861					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Frame_Shift_Del	DEL	ENST00000381486.2	37	c.5583_5584delTT	CCDS42655.1																																																																																				0.426	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		16	72						16	72	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-	rs561001599		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	444					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(1330-1335)afs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25973090_25973094delTTCTT			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1331_1335delAAGAA	2.37:g.25973090_25973094delTTCTT	ENSP00000391447:p.Lys444fs					ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs	p.KE444fs			Q76L83	ASXL2_HUMAN			12	1624_1628	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		444					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	ENST00000435504.4	37	c.1331_1335delAAGAA																																																																																					0.473	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		10	408						10	408	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-	rs397517200		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		20	Substitution - Missense(17)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)	endometrium(9)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1354-1359)tta>tt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928078_178928080delAGA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1356_1358delAGA	3.37:g.178928081_178928083delAGA	ENSP00000263967:p.Glu453del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LE452del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1513_1515	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		452			C2 PI3K-type.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.1356_1358delAGA	CCDS43171.1																																																																																				0.350	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			17	144						17	144	---	---	---	---
FLJ33360	401172	broad.mit.edu	37	5	6337066	6337067	+	lincRNA	DEL	AC	AC	-	rs371668571		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr5:6337066_6337067delAC	ENST00000507444.1	-	0	143					NR_028351.1																						acacatacatacacacacacac	0.475																																						ENST00000507444.1																			0																																																			0							g.chr5:6337066_6337067delAC																													5.37:g.6337076_6337077delAC								NR_028351.1						0	143	-									RNA	DEL	ENST00000507444.1	37																																																																																						0.475	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000365707.1			2	4						2	4	---	---	---	---
OR52B1P	81274	broad.mit.edu	37	11	6173545	6173545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:6173545delC	ENST00000316506.1	-	1	273	c.274delG	c.(274-276)gccfs	p.A92fs	RP11-290F24.3_ENST00000529961.1_RNA					olfactory receptor, family 52, subfamily B, member 1 pseudogene																		ATCGCCAAGGCCTTAGGCACA	0.512																																						ENST00000316506.1																			0											c.(274-276)ccfs																																						SO:0001589	frameshift_variant	0							g.chr11:6173545delC			11p15.4	2013-09-24			ENSG00000180909	ENSG00000180909		"""GPCR / Class A : Olfactory receptors"""	15206	pseudogene	pseudogene							Standard	NG_004225		Approved					ENST00000316506.1:c.274delG	11.37:g.6173545delC	ENSP00000321133:p.Ala92fs					RP11-290F24.3_ENST00000529961.1_RNA	p.A92fs							1	273	-									Frame_Shift_Del	DEL	ENST00000316506.1	37	c.274delG																																																																																					0.512	OR52B1P-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
RP11-35J10.5	0	broad.mit.edu	37	11	7794594	7794594	+	lincRNA	DEL	T	T	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:7794594delT	ENST00000527565.1	-	0	542																											GGGCATCACATAAATGAAGGT	0.502																																						ENST00000527565.1																			0																																																			0							g.chr11:7794594delT																													11.37:g.7794594delT														0	542	-									RNA	DEL	ENST00000527565.1	37																																																																																						0.502	RP11-35J10.5-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000385692.1			2	4						2	4	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58018904	58018906	+	Splice_Site	DEL	AGG	AGG	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:58018904_58018906delAGG	ENST00000320442.4	+	11	1655_1656	c.1344_1345delAGG	c.(1342-1347)aaagga>aaga	p.G449del	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	449	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTTTACTTATAGGAGACTTCAAA	0.532																																						ENST00000320442.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.e11-1		solute carrier family 26, member 10																																				SO:0001630	splice_region_variant	65012					integral to membrane	antiporter activity	g.chr12:58018904_58018906delAGG		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1345-1AGG>-	12.37:g.58018904_58018906delAGG						SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	p.K448_splice	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN			11	1655_1656	+	Melanoma(17;0.122)		448			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Splice_Site	DEL	ENST00000320442.4	37	c.1344_splice	CCDS8949.2																																																																																				0.532	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2		In_Frame_Del	68	199						68	199	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		18	218						18	218	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:42797980_42797981delTG	ENST00000575354.2	+	16	4072_4073	c.4032_4033delTG	c.(4030-4035)tctgtgfs	p.V1345fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V1343fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.V2252fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6751-6756)tctgfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797980_42797981delTG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4032_4033delTG	19.37:g.42797982_42797983delTG	ENSP00000458663:p.Val1345fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.SV1342fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.SV1344fs	p.SV2251fs			Q96RK0	CIC_HUMAN			17	6821_6822	+		Prostate(69;0.00682)	1344					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.6753_6754delTG	CCDS12601.1																																																																																				0.693	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	68						18	68	---	---	---	---
PNMAL2	57469	broad.mit.edu	37	19	46997016	46997017	+	Intron	INS	-	-	CGGCCT	rs147338403	byFrequency	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:46997016_46997017insCGGCCT	ENST00000377655.2	-	1	734				PNMAL2_ENST00000599531.1_In_Frame_Ins_p.569_569R>RGR|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_5'Flank			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GAGTGACGCCCCGGCCTCGGCC	0.777														399	0.0796725	0.0877	0.1311	5008	,	,		7999	0.0069		0.1541	False		,,,				2504	0.0307					ENST00000599531.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8						c.(1705-1707)cgg>cAGGCCGgg		paraneoplastic Ma antigen family-like 2			,	157,1431		64,29,701					,	-3.0	0.0		dbSNP_134	2	473,3237		187,99,1569	no	coding,intron	PNMAL2,LOC100506012	NM_020709.1,NM_001205281.1	,	251,128,2270	A1A1,A1R,RR		12.7493,9.8866,11.8913	,	,		630,4668				SO:0001627	intron_variant	57469							g.chr19:46997016_46997017insCGGCCT	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+971->AGGCCG	19.37:g.46997017_46997022dupCGGCCT						PNMAL2_ENST00000594749.1_Intron|PNMAL2_ENST00000377655.2_Intron	p.569_569R>QAG	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	2738_2739	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	571					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	In_Frame_Ins	INS	ENST00000377655.2	37	c.1706_1707insAGGCCG																																																																																					0.777	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		7	3						7	3	---	---	---	---
