#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
CHD8	57680	broad.mit.edu	37	14	21871248	21871248	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr14:21871248A>G	ENST00000557364.1	-	18	3905	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000399982.2_Silent_p.L1214L			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1214	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.L1214L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATTAATACCAAGTCCACCAG	0.483																																						ENST00000399982.2																			1	Substitution - coding silent(1)	p.L1214L(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(3640-3642)ctT>ctC		chromodomain helicase DNA binding protein 8							67.0	70.0	69.0					14																	21871248		2152	4282	6434	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21871248A>G	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3642T>C	14.37:g.21871248A>G						CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000430710.3_Silent_p.L935L|CHD8_ENST00000555962.1_Intron	p.L1214L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	17	3706	-	all_cancers(95;0.00121)		1214			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.3642T>C	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	6.905	0.536553	0.13188	.	.	ENSG00000100888	ENST00000555935	.	.	.	5.32	4.18	0.49190	.	.	.	.	.	T	0.56031	0.1958	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52170	-0.8611	4	.	.	.	-17.3752	6.9407	0.24490	0.7706:0.15:0.0794:0.0	.	.	.	.	R	440	.	.	W	-	1	0	CHD8	20941088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.806000	0.38892	1.034000	0.39945	0.533000	0.62120	TGG		0.483	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		3	89	0	0	0	0.115264	0	3	89				
SHOX	6473	broad.mit.edu	37	X	601572	601572	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:601572G>A	ENST00000554971.1	+	3	594	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	SHOX_ENST00000381578.1_Missense_Mutation_p.R168Q|SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q			O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD). {ECO:0000269|PubMed:11889214}.		skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R168Q(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCAGAACCGGAGAGCCAAG	0.592																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			1	Substitution - Missense(1)	p.R168Q(1)	prostate(1)	endometrium(3)|lung(9)|prostate(1)	13	GRCh37	CM014908	SHOX	M		c.(502-504)cGg>cAg		short stature homeobox							155.0	165.0	161.0					X																	601572		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601572G>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.503G>A	X.37:g.601572G>A	ENSP00000452016:p.Arg168Gln					SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000554971.1_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q	p.R168Q	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			4	1194	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	168		R -> W (in LMD).			O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.503G>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.661595	0.47572	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	1.36	1.36	0.22044	Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98429	0.9477	M	0.93106	3.38	0.09310	N	0.999999	D;D	0.89917	0.997;1.0	D;D	0.77557	0.922;0.99	D	0.94127	0.7385	10	0.87932	D	0	.	11.1805	0.48625	0.0:0.0:1.0:0.0	.	168;168	O15266-2;O15266	.;SHOX_HUMAN	Q	168	ENSP00000335505:R168Q;ENSP00000370990:R168Q;ENSP00000452016:R168Q;ENSP00000370987:R168Q	ENSP00000335505:R168Q	R	+	2	0	SHOX	521572	1.000000	0.71417	0.987000	0.45799	0.576000	0.36127	7.194000	0.77789	0.723000	0.32274	0.115000	0.15696	CGG		0.592	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		45	137	0	0	0	0.870114	0	45	137				
ANKRD17	26057	broad.mit.edu	37	4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:74043162C>A	ENST00000358602.4	-	2	598	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	161					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G161V(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTCTGCACCATCAGCAGT	0.413																																						ENST00000358602.4																			2	Substitution - Missense(2)	p.G161V(2)	prostate(2)	NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(481-483)gGt>gTt		ankyrin repeat domain 17							119.0	108.0	112.0					4																	74043162		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74043162C>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.482G>T	4.37:g.74043162C>A	ENSP00000351416:p.Gly161Val					ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V	p.G161V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		2	598	-	Breast(15;0.000295)		161					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.482G>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983771	0.74474	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000411811	D;D;T	0.81499	-1.5;-1.5;-0.34	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000004	D	0.85639	0.5743	L	0.40543	1.245	0.80722	D	1	B;D;B;B	0.61697	0.04;0.99;0.11;0.242	B;D;B;B	0.63957	0.06;0.92;0.092;0.092	D	0.87013	0.2124	10	0.87932	D	0	.	19.1512	0.93488	0.0:1.0:0.0:0.0	.	161;161;161;48	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	161;161;161;48;161	ENSP00000351416:G161V;ENSP00000332265:G161V;ENSP00000427151:G48V	ENSP00000332265:G161V	G	-	2	0	ANKRD17	74262026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.513000	0.84729	0.591000	0.81541	GGT		0.413	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		8	231	1	0	7.48243e-07	0.335167	9.1311e-07	8	231				
LRIG2	9860	broad.mit.edu	37	1	113636959	113636959	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:113636959A>T	ENST00000361127.5	+	5	713		c.e5-1			NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2						innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTTATTTTAGGAATTTAAG	0.323																																						ENST00000361127.4																			2	Unknown(2)	p.?(2)	prostate(2)	breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.e5-1		leucine-rich repeats and immunoglobulin-like domains 2							33.0	33.0	33.0					1																	113636959		2203	4300	6503	SO:0001630	splice_region_variant	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113636959A>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.516-1A>T	1.37:g.113636959A>T								NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	5	713	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)						Q9NSN2	Splice_Site	SNP	ENST00000361127.5	37		CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048488	0.75846	.	.	ENSG00000198799	ENST00000361127	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRIG2	113438482	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.168000	0.94781	2.281000	0.76405	0.528000	0.53228	.		0.323	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813	Intron	4	80	0	0	0	0.150653	0	4	80				
SLC25A13	10165	broad.mit.edu	37	7	95750981	95750981	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:95750981A>G	ENST00000265631.5	-	17	1963	c.1827T>C	c.(1825-1827)atT>atC	p.I609I	SLC25A13_ENST00000416240.2_Silent_p.I610I|SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	609					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.I609I(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCCAAAATCAATGTAGAACC	0.413																																						ENST00000416240.2																			1	Substitution - coding silent(1)	p.I609I(1)	prostate(1)	breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1828-1830)atT>atC		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						159.0	159.0	159.0					7																	95750981		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95750981A>G	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1827T>C	7.37:g.95750981A>G						SLC25A13_ENST00000265631.5_Silent_p.I609I|SLC25A13_ENST00000542654.1_Silent_p.I501I|SLC25A13_ENST00000494085.1_5'UTR	p.I610I	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		17	2020	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		609					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.1830T>C	CCDS5645.1																																																																																				0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		79	244	0	0	0	0.870114	0	79	244				
STAT5B	6777	broad.mit.edu	37	17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:40362212G>A	ENST00000293328.3	-	15	2051	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	628	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T628I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAGCAATGGTGATGCCGCC	0.428																																						ENST00000293328.3																			1	Substitution - Missense(1)	p.T628I(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1882-1884)aCc>aTc		signal transducer and activator of transcription 5B	Dasatinib(DB01254)						122.0	108.0	112.0					17																	40362212		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40362212G>A	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1883C>T	17.37:g.40362212G>A	ENSP00000293328:p.Thr628Ile						p.T628I	NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	15	2051	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	628			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1883C>T	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284250	0.95517	.	.	ENSG00000173757	ENST00000293328	T	0.54675	0.56	5.44	5.44	0.79542	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.74230	0.3689	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76066	-0.3095	10	0.87932	D	0	-1.0439	19.4568	0.94895	0.0:0.0:1.0:0.0	.	628	P51692	STA5B_HUMAN	I	628	ENSP00000293328:T628I	ENSP00000293328:T628I	T	-	2	0	STAT5B	37615738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.461000	0.97646	2.832000	0.97577	0.655000	0.94253	ACC		0.428	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		3	86	0	0	0	0.115264	0	3	86				
IKZF2	22807	broad.mit.edu	37	2	213886796	213886796	+	Silent	SNP	C	C	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:213886796C>G	ENST00000434687.1	-	7	942	c.633G>C	c.(631-633)ctG>ctC	p.L211L	IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000457361.1_Silent_p.L211L|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000374327.4_Silent_p.L66L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	211					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L211L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGCTCCTCCAGTGAACTGC	0.507																																						ENST00000457361.1																			1	Substitution - coding silent(1)	p.L211L(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(631-633)ctG>ctC		IKAROS family zinc finger 2 (Helios)							147.0	120.0	129.0					2																	213886796		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213886796C>G	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.633G>C	2.37:g.213886796C>G						IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000374319.4_Silent_p.L185L|IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000434687.1_Silent_p.L211L|IKZF2_ENST00000374327.4_Silent_p.L66L	p.L211L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	6	801	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	211					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.633G>C	CCDS2395.1																																																																																				0.507	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		6	122	0	0	0	0.217242	0	6	122				
S100PBP	64766	broad.mit.edu	37	1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:33291705T>C	ENST00000373475.5	+	3	259	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T	NM_022753.3	NP_073590.2			S100P binding protein									p.M2T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAAATGATGTGCTCACGG	0.428																																						ENST00000373475.5																			1	Substitution - Missense(1)	p.M2T(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16						c.(4-6)aTg>aCg		S100P binding protein							101.0	96.0	97.0					1																	33291705		2203	4300	6503	SO:0001583	missense	64766					nucleus	calcium-dependent protein binding	g.chr1:33291705T>C	BX647916	CCDS30666.1	1p35.1	2008-02-05			ENSG00000116497	ENSG00000116497			25768	protein-coding gene	gene with protein product	"""S100P binding protein 1"""	611889				12477932	Standard	NM_022753		Approved	FLJ12903, S100PBPR	uc001bwc.4	Q96BU1	OTTHUMG00000003955	ENST00000373475.5:c.5T>C	1.37:g.33291705T>C	ENSP00000362574:p.Met2Thr					S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000356689.3_3'UTR	p.M2T	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN			3	259	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	2						Missense_Mutation	SNP	ENST00000373475.5	37	c.5T>C	CCDS30666.1	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.482349	0.01027	.	.	ENSG00000116497	ENST00000530710;ENST00000373476;ENST00000373475;ENST00000529027;ENST00000531123;ENST00000398243;ENST00000356689;ENST00000526230;ENST00000531256;ENST00000482212;ENST00000530552	.	.	.	5.32	-1.53	0.08611	.	0.644054	0.15814	N	0.243325	T	0.09949	0.0244	N	0.01576	-0.805	0.22330	N	0.999197	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.36261	-0.9755	9	0.02654	T	1	2.0926	9.53	0.39187	0.0:0.4877:0.0:0.5123	.	2;2	A8MTZ6;Q96BU1	.;S1PBP_HUMAN	T	2	.	ENSP00000349117:M2T	M	+	2	0	S100PBP	33064292	0.983000	0.35010	0.950000	0.38849	0.823000	0.46562	-0.070000	0.11523	-0.351000	0.08249	-0.250000	0.11733	ATG		0.428	S100PBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011266.1	NM_022753		48	106	0	0	0	0.870114	0	48	106				
PBXIP1	57326	broad.mit.edu	37	1	154918697	154918697	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:154918697G>A	ENST00000368463.3	-	10	1524	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	PBXIP1_ENST00000539880.1_Missense_Mutation_p.R312W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R330W|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R456W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	485					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.R485W(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGCCTTCCGGTCTCTCTGC	0.552																																						ENST00000368463.3																			1	Substitution - Missense(1)	p.R485W(1)	prostate(1)	breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(1453-1455)Cgg>Tgg		pre-B-cell leukemia homeobox interacting protein 1							185.0	198.0	194.0					1																	154918697		2203	4300	6503	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154918697G>A	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1453C>T	1.37:g.154918697G>A	ENSP00000357448:p.Arg485Trp					PBXIP1_ENST00000539880.1_Missense_Mutation_p.R312W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R456W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R330W	p.R485W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1524	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		485					Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.1453C>T	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	G	4.591	0.109778	0.08780	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.12879	2.64;2.64;2.65;2.65	4.45	-7.69	0.01263	.	1.446590	0.03974	N	0.292228	T	0.01353	0.0044	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.09377	0.004	T	0.35943	-0.9768	10	0.48119	T	0.1	-3.3631	0.4624	0.00518	0.3037:0.2078:0.292:0.1965	.	485	Q96AQ6	PBIP1_HUMAN	W	456;485;485;312;261;330	ENSP00000357450:R456W;ENSP00000357448:R485W;ENSP00000440142:R312W;ENSP00000438584:R330W	ENSP00000295523:R485W	R	-	1	2	PBXIP1	153185321	0.000000	0.05858	0.002000	0.10522	0.161000	0.22273	-0.312000	0.08113	-1.249000	0.02500	-1.098000	0.02139	CGG		0.552	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		17	546	0	0	0	0.557998	0	17	546				
WDR43	23160	broad.mit.edu	37	2	29148007	29148007	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:29148007T>G	ENST00000407426.3	+	8	1130	c.1074T>G	c.(1072-1074)acT>acG	p.T358T	SNORD53_ENST00000579969.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_SNORD92_ENST00000577887.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	358						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T401T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCTACTATTGAGCGAG	0.413																																						ENST00000407426.3																			1	Substitution - coding silent(1)	p.T401T(1)	prostate(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20						c.(1072-1074)acT>acG		WD repeat domain 43							98.0	91.0	93.0					2																	29148007		1906	4120	6026	SO:0001819	synonymous_variant	23160					nucleolus		g.chr2:29148007T>G	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1074T>G	2.37:g.29148007T>G							p.T358T	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN			8	1130	+	Acute lymphoblastic leukemia(172;0.155)		358					Q15395|Q92577	Silent	SNP	ENST00000407426.3	37	c.1074T>G	CCDS46251.1																																																																																				0.413	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		12	39	0	0	0	0.411799	0	12	39				
ZBED1	9189	broad.mit.edu	37	X	2407936	2407936	+	Silent	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:2407936G>A	ENST00000381223.4	-	2	1028	c.825C>T	c.(823-825)atC>atT	p.I275I	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.I275I|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Silent_p.I275I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	275					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)	p.I275I(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGCCTTCACGATGTCCTTGC	0.627																																						ENST00000381223.4																			1	Substitution - coding silent(1)	p.I275I(1)	prostate(1)	endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(823-825)atC>atT		zinc finger, BED-type containing 1							125.0	111.0	116.0					X																	2407936		2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407936G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.825C>T	X.37:g.2407936G>A						DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.I275I|ZBED1_ENST00000381218.3_Silent_p.I275I	p.I275I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	1028	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	275					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.825C>T	CCDS14118.1																																																																																				0.627	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		72	189	0	0	0	0.870114	0	72	189				
C1orf177	163747	broad.mit.edu	37	1	55280637	55280637	+	Silent	SNP	C	C	T	rs200876449		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:55280637C>T	ENST00000371273.3	+	8	990	c.975C>T	c.(973-975)ccC>ccT	p.P325P	C1orf177_ENST00000358193.3_Silent_p.P325P	NM_001110533.1	NP_001104003	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	325								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AATGCAAACCCGTCAACCAGC	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20294	0.0		0.0	False		,,,				2504	0.0					ENST00000358193.3																			1	Substitution - coding silent(1)	p.P325P(1)	prostate(1)	breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						c.(973-975)ccC>ccT		chromosome 1 open reading frame 177							113.0	114.0	113.0					1																	55280637		2203	4300	6503	SO:0001819	synonymous_variant	163747							g.chr1:55280637C>T	AK097520	CCDS599.1, CCDS44153.1	1p32.3	2012-07-25			ENSG00000162398	ENSG00000162398			26854	protein-coding gene	gene with protein product							Standard	NM_152607		Approved	FLJ40201	uc001cyb.4	Q3ZCV2	OTTHUMG00000009986	ENST00000371273.3:c.975C>T	1.37:g.55280637C>T						C1orf177_ENST00000371273.3_Silent_p.P325P	p.P325P	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN			8	1029	+			325					B7WPL2|Q8N7Y9	Silent	SNP	ENST00000371273.3	37	c.975C>T	CCDS44153.1																																																																																				0.547	C1orf177-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027674.1	NM_152607		41	140	0	0	0	0.859065	0	41	140				
FN1	2335	broad.mit.edu	37	2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:216236934C>A	ENST00000359671.1	-	39	6404	c.6139G>T	c.(6139-6141)Ggg>Tgg	p.G2047W	FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000354785.4_Missense_Mutation_p.G2138W|FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000346544.3_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000357009.2_Intron			P02751	FINC_HUMAN	fibronectin 1	2047	Connecting strand 3 (CS-3) (V region).				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.G2047W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATTTGTTGCCCAACACTGGGT	0.532																																						ENST00000354785.4																		FN1/ALK(2)	1	Substitution - Missense(1)	p.G2047W(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(6412-6414)Ggg>Tgg		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						102.0	91.0	95.0					2																	216236934		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216236934C>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6139G>T	2.37:g.216236934C>A	ENSP00000352696:p.Gly2047Trp					FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W	p.G2138W			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	40	6781	-		Renal(323;0.127)	2047			Fibronectin type-III 16.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.6412G>T		.	.	.	.	.	.	.	.	.	.	C	21.8	4.207290	0.79240	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000446046;ENST00000443816;ENST00000356005;ENST00000456923;ENST00000438981	T;T;T;T;T;T;T;T;T;T	0.60797	0.16;2.15;2.29;2.35;2.0;1.65;1.57;1.4;0.78;1.85	6.16	6.16	0.99307	.	0.075011	0.56097	D	0.000033	T	0.74824	0.3767	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.999	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.967;0.992;0.981;0.992;0.986;1.0;1.0;0.981;0.986	T	0.73720	-0.3894	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1838;2138;1957;2022;2047;2048;1932;1957;2138;2047	Q68CX6;P02751-7;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;FINC_HUMAN	W	1932;2138;2047;2138;2048;2047;2022;1957;1957;764;141	ENSP00000394423:G1932W;ENSP00000323534:G2138W;ENSP00000338200:G2047W;ENSP00000346839:G2138W;ENSP00000352696:G2047W;ENSP00000410422:G2022W;ENSP00000415018:G1957W;ENSP00000348285:G1957W;ENSP00000416139:G764W;ENSP00000392565:G141W	ENSP00000265313:G2048W	G	-	1	0	FN1	215945179	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.359000	0.66074	2.937000	0.99478	0.650000	0.86243	GGG		0.532	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		4	145	1	0	0.00909568	0.150653	0.00977446	4	145				
RIOK1	83732	broad.mit.edu	37	6	7405482	7405482	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:7405482A>G	ENST00000379834.2	+	12	1604	c.1097A>G	c.(1096-1098)gAt>gGt	p.D366G		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	366	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D359G(1)|p.D366G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTCTGACAGATTTCTTTATG	0.363																																						ENST00000379834.2																			2	Substitution - Missense(2)	p.D359G(1)|p.D366G(1)	prostate(2)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e12-1		RIO kinase 1							79.0	72.0	74.0					6																	7405482		2203	4300	6503	SO:0001630	splice_region_variant	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7405482A>G	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.1097-1A>G	6.37:g.7405482A>G							p.D366_splice	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			12	1604	+	Ovarian(93;0.0418)		366			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Splice_Site	SNP	ENST00000379834.2	37	c.1096_splice	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	A	12.03	1.815451	0.32145	.	.	ENSG00000124784	ENST00000379834	T	0.06849	3.25	5.37	4.18	0.49190	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.144148	0.64402	D	0.000009	T	0.03783	0.0107	L	0.60012	1.86	0.58432	D	0.999998	B	0.18863	0.031	B	0.23852	0.049	T	0.20840	-1.0263	9	.	.	.	.	9.5185	0.39120	0.8501:0.0:0.1499:0.0	.	366	Q9BRS2	RIOK1_HUMAN	G	366	ENSP00000369162:D366G	.	D	+	2	0	RIOK1	7350481	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	3.778000	0.55371	0.852000	0.35287	0.460000	0.39030	GAT		0.363	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480	Missense_Mutation	32	79	0	0	0	0.750413	0	32	79				
MUC17	140453	broad.mit.edu	37	7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:100684772A>G	ENST00000306151.4	+	3	10139	c.10075A>G	c.(10075-10077)Acc>Gcc	p.T3359A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3359	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3359A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.T3359A(1)	prostate(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(10075-10077)Acc>Gcc		mucin 17, cell surface associated							308.0	317.0	314.0					7																	100684772		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684772A>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10075A>G	7.37:g.100684772A>G	ENSP00000302716:p.Thr3359Ala						p.T3359A	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	10139	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3359			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10075A>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	7.783	0.709952	0.15239	.	.	ENSG00000169876	ENST00000306151	T	0.01887	4.58	1.44	-2.88	0.05682	.	.	.	.	.	T	0.03220	0.0094	N	0.24115	0.695	0.09310	N	1	D	0.58268	0.982	D	0.67548	0.952	T	0.33033	-0.9884	9	0.23891	T	0.37	.	2.2978	0.04154	0.581:0.0:0.1777:0.2414	.	3359	Q685J3	MUC17_HUMAN	A	3359	ENSP00000302716:T3359A	ENSP00000302716:T3359A	T	+	1	0	MUC17	100471492	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.999000	0.01467	-0.908000	0.03857	0.165000	0.16767	ACC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		123	436	0	0	0	0.870114	0	123	436				
EXT1	2131	broad.mit.edu	37	8	118812096	118812096	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:118812096G>T	ENST00000378204.2	-	11	2902	c.2096C>A	c.(2095-2097)gCc>gAc	p.A699D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	699	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)	p.A699D(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGTCGCTGGGCAAAGTGGTC	0.527			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			1	Substitution - Missense(1)	p.A699D(1)	prostate(1)	breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(2095-2097)gCc>gAc		exostosin glycosyltransferase 1							69.0	66.0	67.0					8																	118812096		2203	4300	6503	SO:0001583	missense	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118812096G>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2096C>A	8.37:g.118812096G>T	ENSP00000367446:p.Ala699Asp						p.A699D	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		11	2902	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		699					B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.2096C>A	CCDS6324.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415547	0.62511	.	.	ENSG00000182197	ENST00000378204	T	0.77620	-1.11	5.96	5.96	0.96718	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.74152	0.3679	L	0.45698	1.435	0.80722	D	1	B	0.28208	0.203	B	0.31614	0.133	T	0.68062	-0.5508	10	0.12430	T	0.62	-10.1038	20.422	0.99049	0.0:0.0:1.0:0.0	.	699	Q16394	EXT1_HUMAN	D	699	ENSP00000367446:A699D	ENSP00000367446:A699D	A	-	2	0	EXT1	118881277	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	GCC		0.527	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		3	112	1	0	0.004672	0.115264	0.005256	3	112				
PDS5B	23047	broad.mit.edu	37	13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr13:33252986A>G	ENST00000315596.10	+	10	1163	c.977A>G	c.(976-978)cAt>cGt	p.H326R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	326				H -> N (in Ref. 8; AAH39256). {ECO:0000305}.	cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.H326R(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATATCCATGTACCAATC	0.333																																						ENST00000315596.10																			1	Substitution - Missense(1)	p.H326R(1)	prostate(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(976-978)cAt>cGt		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							111.0	99.0	103.0					13																	33252986		1835	4088	5923	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33252986A>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.977A>G	13.37:g.33252986A>G	ENSP00000313851:p.His326Arg						p.H326R	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	10	1163	+		Lung SC(185;0.0367)	326	H -> N (in Ref. 8; AAH39256).				Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.977A>G	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620733	0.87460	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.67523	-0.27	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72020	0.3409	L	0.51422	1.61	0.80722	D	1	P;P	0.51057	0.941;0.529	P;B	0.54026	0.74;0.228	T	0.71669	-0.4523	10	0.39692	T	0.17	-25.7285	15.5881	0.76502	1.0:0.0:0.0:0.0	.	326;326	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	R	326	ENSP00000313851:H326R	ENSP00000313851:H326R	H	+	2	0	PDS5B	32150986	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.233000	0.95337	2.090000	0.63153	0.459000	0.35465	CAT		0.333	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		17	84	0	0	0	0.500413	0	17	84				
CACNB2	783	broad.mit.edu	37	10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:18828621G>A	ENST00000324631.7	+	14	2011	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|CACNB2_ENST00000396576.2_Missense_Mutation_p.E596K	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	651					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.E596K(1)|p.E627K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAGGCTGGGGAGTGGAACAG	0.423																																						ENST00000396576.2																			2	Substitution - Missense(2)	p.E596K(1)|p.E627K(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(1786-1788)Gag>Aag		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						69.0	67.0	67.0					10																	18828621		2203	4299	6502	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18828621G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1951G>A	10.37:g.18828621G>A	ENSP00000320025:p.Glu651Lys					CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K|CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K	p.E596K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			13	2287	+			651					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.1786G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998954	0.74818	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;D;D;D;D;D;D;D;D	0.84070	-1.75;-1.76;-1.8;-1.74;-1.77;-1.75;-1.77;-1.75;-1.74	5.17	5.17	0.71159	.	0.342118	0.33875	N	0.004462	T	0.79845	0.4516	L	0.38175	1.15	0.58432	D	0.999993	B;P;D;P;B;P;P;B;B;P;B;P;P	0.53745	0.155;0.77;0.962;0.568;0.425;0.694;0.469;0.081;0.425;0.852;0.286;0.695;0.77	B;B;P;B;B;B;B;B;B;B;B;B;B	0.44422	0.034;0.101;0.449;0.063;0.063;0.204;0.05;0.046;0.101;0.204;0.169;0.423;0.101	T	0.80591	-0.1314	10	0.42905	T	0.14	-14.4893	18.8737	0.92327	0.0:0.0:1.0:0.0	.	565;623;401;603;573;597;607;558;599;623;613;627;651	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	K	651;627;401;623;599;596;558;597;603	ENSP00000320025:E651K;ENSP00000344474:E627K;ENSP00000366545:E401K;ENSP00000282343:E623K;ENSP00000366548:E599K;ENSP00000379821:E596K;ENSP00000366536:E558K;ENSP00000366546:E597K;ENSP00000366532:E603K	ENSP00000282343:E623K	E	+	1	0	CACNB2	18868627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	2.703000	0.92315	0.655000	0.94253	GAG		0.423	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		9	120	0	0	0	0.335167	0	9	120				
CCDC22	28952	broad.mit.edu	37	X	49099406	49099406	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:49099406C>A	ENST00000376227.3	+	4	586	c.416C>A	c.(415-417)gCa>gAa	p.A139E	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	139								p.A139E(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GACCAGCTGGCACTGCCTTGG	0.587																																						ENST00000376227.3																			2	Substitution - Missense(2)	p.A139E(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(415-417)gCa>gAa		coiled-coil domain containing 22							52.0	41.0	45.0					X																	49099406		2202	4297	6499	SO:0001583	missense	28952							g.chrX:49099406C>A	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.416C>A	X.37:g.49099406C>A	ENSP00000365401:p.Ala139Glu					CCDC22_ENST00000496651.1_3'UTR	p.A139E	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			4	586	+			139					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.416C>A	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.203243	0.38905	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.02	4.15	0.48705	.	0.272597	0.36034	N	0.002829	T	0.47021	0.1423	L	0.42245	1.32	0.25592	N	0.986685	P;D	0.63880	0.77;0.993	B;D	0.63113	0.409;0.911	T	0.32798	-0.9893	9	0.10902	T	0.67	-2.1715	9.8843	0.41253	0.0:0.8991:0.0:0.1009	.	139;139	B4DLA4;O60826	.;CCD22_HUMAN	E	139	.	ENSP00000365401:A139E	A	+	2	0	CCDC22	48986350	0.972000	0.33761	0.918000	0.36340	0.275000	0.26752	2.319000	0.43788	0.910000	0.36722	0.464000	0.42555	GCA		0.587	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		4	5	1	0	0.00909568	0.150653	0.00977446	4	5				
ZNF181	339318	broad.mit.edu	37	19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:35232275T>C	ENST00000492450.1	+	4	1078	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_ENST00000459757.2_Missense_Mutation_p.F329S|ZNF181_ENST00000392232.3_Missense_Mutation_p.F374S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398																																						ENST00000392232.3																			1	Substitution - Missense(1)	p.F266S(1)	prostate(1)	endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(1120-1122)tTt>tCt		zinc finger protein 181							82.0	81.0	81.0					19																	35232275		2203	4300	6503	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232275T>C	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.989T>C	19.37:g.35232275T>C	ENSP00000420727:p.Phe330Ser					ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S|ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S	p.F374S			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	1289	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		330					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1121T>C	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295411	0.60086	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.47869	0.83;0.83;0.83	2.99	2.99	0.34606	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70622	0.3245	M	0.90019	3.08	0.37232	D	0.905749	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78259	-0.2273	9	0.87932	D	0	.	9.7095	0.40236	0.0:0.0:0.0:1.0	.	329;330	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	S	374;329;330;329	ENSP00000376065:F374S;ENSP00000420727:F330S;ENSP00000419435:F329S	ENSP00000376065:F374S	F	+	2	0	ZNF181	39924115	1.000000	0.71417	0.992000	0.48379	0.930000	0.56654	6.786000	0.75094	1.604000	0.50143	0.459000	0.35465	TTT		0.398	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		3	168	0	0	0	0.150653	0	3	168				
ITK	3702	broad.mit.edu	37	5	156670752	156670752	+	Missense_Mutation	SNP	C	C	T	rs202119873		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:156670752C>T	ENST00000422843.3	+	12	1332	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	394	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R394W(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	CAAAACCATTCGGGAAGGGGC	0.498			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		2	Substitution - Missense(2)	p.R394W(2)	prostate(2)	breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(1180-1182)Cgg>Tgg		IL2-inducible T-cell kinase							174.0	166.0	169.0					5																	156670752		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156670752C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1180C>T	5.37:g.156670752C>T	ENSP00000398655:p.Arg394Trp					ITK_ENST00000519749.1_3'UTR	p.R394W	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1332	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	394			Protein kinase.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.1180C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715711	0.89112	.	.	ENSG00000113263	ENST00000422843	D	0.83419	-1.72	5.64	5.64	0.86602	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.327694	0.33515	N	0.004830	D	0.91730	0.7385	M	0.84846	2.72	0.42460	D	0.992785	D	0.71674	0.998	D	0.63192	0.912	D	0.92700	0.6174	10	0.87932	D	0	.	19.7037	0.96065	0.0:1.0:0.0:0.0	.	394	Q08881	ITK_HUMAN	W	394	ENSP00000398655:R394W	ENSP00000398655:R394W	R	+	1	2	ITK	156603330	0.951000	0.32395	0.983000	0.44433	0.990000	0.78478	4.389000	0.59639	2.655000	0.90218	0.655000	0.94253	CGG		0.498	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			65	126	0	0	0	0.870114	0	65	126				
OSGIN1	29948	broad.mit.edu	37	16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:83998851T>C	ENST00000343939.2	+	7	1305	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	308					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)		growth factor activity (GO:0008083)	p.F308L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGAGCGGCTTCCTGACCAG	0.692																																						ENST00000343939.2																			1	Substitution - Missense(1)	p.F308L(1)	prostate(1)	autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(922-924)Ttc>Ctc		oxidative stress induced growth inhibitor 1							46.0	52.0	50.0					16																	83998851		2200	4299	6499	SO:0001583	missense	29948				cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	g.chr16:83998851T>C	AY258066	CCDS10939.1	16q23.3	2010-11-23			ENSG00000140961	ENSG00000140961			30093	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived growth inhibitor"", ""pregnancy induced growth inhibitor"""	607975				11459809, 14570898	Standard	NM_182981		Approved	BDGI, OKL38	uc002fhc.3	Q9UJX0	OTTHUMG00000137640	ENST00000343939.2:c.922T>C	16.37:g.83998851T>C	ENSP00000343376:p.Phe308Leu					OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L	p.F308L			Q9UJX0	OSGI1_HUMAN			7	1305	+			308					Q52M33|Q86UQ1|Q96S88|Q9BZ70	Missense_Mutation	SNP	ENST00000343939.2	37	c.922T>C		.	.	.	.	.	.	.	.	.	.	T	8.471	0.857606	0.17106	.	.	ENSG00000140961	ENST00000343939;ENST00000361711;ENST00000393306	T;T;T	0.37235	1.21;1.21;1.21	4.8	1.03	0.20045	.	0.224686	0.47093	D	0.000256	T	0.25938	0.0632	L	0.48642	1.525	0.80722	D	1	B	0.21071	0.051	B	0.17433	0.018	T	0.05099	-1.0906	10	0.30854	T	0.27	-8.5591	6.3826	0.21544	0.2745:0.0:0.1433:0.5822	.	308	Q9UJX0	OSGI1_HUMAN	L	308;225;225	ENSP00000343376:F308L;ENSP00000355374:F225L;ENSP00000376983:F225L	ENSP00000343376:F308L	F	+	1	0	OSGIN1	82556352	0.999000	0.42202	0.869000	0.34112	0.073000	0.16967	1.635000	0.37134	-0.114000	0.11936	-0.691000	0.03719	TTC		0.692	OSGIN1-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000269081.1	NM_013370		21	69	0	0	0	0.654019	0	21	69				
ROBO4	54538	broad.mit.edu	37	11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:124756546C>T	ENST00000306534.3	-	16	3093	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	870					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E870K(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGGAGCCCTCGCTGGGGGTG	0.667																																						ENST00000306534.3																			1	Substitution - Missense(1)	p.E870K(1)	prostate(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2608-2610)Gag>Aag		roundabout, axon guidance receptor, homolog 4 (Drosophila)							21.0	24.0	23.0					11																	124756546		2200	4299	6499	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756546C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2608G>A	11.37:g.124756546C>T	ENSP00000304945:p.Glu870Lys					RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	p.E870K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	3093	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	870					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2608G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212673	0.79240	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.64438	-0.1;0.27	4.94	4.03	0.46877	.	0.000000	0.36893	N	0.002358	T	0.70465	0.3227	M	0.69823	2.125	0.30237	N	0.79533	D;D	0.67145	0.995;0.996	P;P	0.54312	0.748;0.642	T	0.71368	-0.4614	10	0.42905	T	0.14	.	13.3088	0.60368	0.0:0.9236:0.0:0.0764	.	870;870	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	K	870;725	ENSP00000304945:E870K;ENSP00000437129:E725K	ENSP00000304945:E870K	E	-	1	0	ROBO4	124261756	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	4.981000	0.63819	1.202000	0.43218	0.655000	0.94253	GAG		0.667	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		14	33	0	0	0	0.479597	0	14	33				
MID2	11043	broad.mit.edu	37	X	107159358	107159358	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:107159358A>G	ENST00000262843.6	+	6	1748	c.1200A>G	c.(1198-1200)acA>acG	p.T400T	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Splice_Site_p.T400T	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	400	Fibronectin type-III.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.T380T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTATTTAACAGGTGTGAAAA	0.274																																						ENST00000262843.6																			1	Substitution - coding silent(1)	p.T380T(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.e6+1		midline 2							78.0	83.0	81.0					X																	107159358		2202	4295	6497	SO:0001630	splice_region_variant	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107159358A>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1201+1A>G	X.37:g.107159358A>G						MID2_ENST00000443968.2_Splice_Site_p.T400_splice|RP6-191P20.4_ENST00000430140.1_RNA	p.T400_splice	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			6	1748	+			400			Fibronectin type-III.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Splice_Site	SNP	ENST00000262843.6	37	c.1201_splice	CCDS14532.2																																																																																				0.274	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216	Silent	3	196	0	0	0	0.150653	0	3	196				
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:144337274G>T	ENST00000370493.3	+	2	918	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53								p.A53A(4)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433																																						ENST00000370493.3																			4	Substitution - coding silent(4)	p.A53A(4)	urinary_tract(2)|prostate(2)	endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14						c.(157-159)gcG>gcT		SPANX family, member N1							181.0	156.0	164.0					X																	144337274		2203	4297	6500	SO:0001819	synonymous_variant	494118							g.chrX:144337274G>T		CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.159G>T	X.37:g.144337274G>T							p.A53A	NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN			2	918	+	Acute lymphoblastic leukemia(192;6.56e-05)		53						Silent	SNP	ENST00000370493.3	37	c.159G>T	CCDS35421.1																																																																																				0.433	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058631.2	NM_001009614		3	123	1	0	0.115264	0.115264	0.122044	3	123				
TRAPPC6A	79090	broad.mit.edu	37	19	45668125	45668125	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:45668125G>A	ENST00000585934.1	-	3	274	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	TRAPPC6A_ENST00000006275.4_Missense_Mutation_p.R100C|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.A63V|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.A77V	NM_001270891.1	NP_001257820.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	86					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.R100C(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGATTGGTGCGCAGGCTGTCC	0.647																																						ENST00000006275.4																			1	Substitution - Missense(1)	p.R100C(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8						c.(298-300)Cgc>Tgc		trafficking protein particle complex 6A							72.0	71.0	71.0					19																	45668125		2203	4300	6503	SO:0001583	missense	79090				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr19:45668125G>A	AF161407	CCDS12655.1, CCDS59395.1, CCDS59396.1, CCDS59397.1	19q13.32	2012-10-02				ENSG00000007255		"""Trafficking protein particle complex"""	23069	protein-coding gene	gene with protein product		610396					Standard	NM_024108		Approved	TRS33, MGC2650, HSPC289	uc002pav.4	O75865		ENST00000585934.1:c.256C>T	19.37:g.45668125G>A	ENSP00000468612:p.Arg86Cys					TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.A77V|TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.A63V|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.R86C	p.R100C	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)	3	316	-		all_neural(266;0.224)|Ovarian(192;0.231)	86	SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).				K7ERB1|K7ERQ4|Q9BQ45|Q9P092	Missense_Mutation	SNP	ENST00000585934.1	37	c.298C>T	CCDS59397.1	.	.	.	.	.	.	.	.	.	.	g	13.98	2.397595	0.42512	.	.	ENSG00000007255	ENST00000006275	T	0.48201	0.82	4.78	-0.463	0.12164	NO signalling/Golgi transport  ligand-binding domain (1);	0.189735	0.43416	N	0.000564	T	0.64271	0.2583	M	0.88512	2.96	0.19575	N	0.999964	B;D	0.89917	0.065;1.0	B;D	0.66196	0.023;0.942	T	0.55023	-0.8205	10	0.87932	D	0	-10.5855	5.948	0.19229	0.0927:0.0:0.4266:0.4806	.	86;100	O75865;O75865-2	TPC6A_HUMAN;.	C	100	ENSP00000006275:R100C	ENSP00000006275:R100C	R	-	1	0	TRAPPC6A	50359965	0.734000	0.28142	0.174000	0.22961	0.467000	0.32768	0.873000	0.28052	0.059000	0.16252	-0.260000	0.10688	CGC		0.647	TRAPPC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457556.1	NM_024108		4	158	0	0	0	0.184627	0	4	158				
FXR2	9513	broad.mit.edu	37	17	7495581	7495581	+	Silent	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7495581T>C	ENST00000250113.7	-	16	2251	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	SOX15_ENST00000250055.2_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000570788.1_5'Flank|MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	639						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S639S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCTGTCCTGAAAGAGAGT	0.507																																						ENST00000250113.7																			1	Substitution - coding silent(1)	p.S639S(1)	prostate(1)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1915-1917)tcA>tcG		fragile X mental retardation, autosomal homolog 2							124.0	124.0	124.0					17																	7495581		1963	4160	6123	SO:0001819	synonymous_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7495581T>C	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1917A>G	17.37:g.7495581T>C						FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	p.S639S	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	16	2251	-			639					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Silent	SNP	ENST00000250113.7	37	c.1917A>G	CCDS45604.1																																																																																				0.507	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			3	144	0	0	0	0.115264	0	3	144				
GGA3	23163	broad.mit.edu	37	17	73235138	73235138	+	Missense_Mutation	SNP	C	C	T	rs373320990		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73235138C>T	ENST00000245541.6	-	15	2023	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	GGA3_ENST00000582717.1_Missense_Mutation_p.D531N|GGA3_ENST00000538886.1_Missense_Mutation_p.D481N|GGA3_ENST00000578348.1_Missense_Mutation_p.D481N|GGA3_ENST00000351904.7_Missense_Mutation_p.D570N|GGA3_ENST00000582486.1_Missense_Mutation_p.D531N	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	603	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.D603N(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCGTTTTTATCGTAGGCTGTC	0.592											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.0		0.001	False		,,,				2504	0.0					ENST00000245541.6																			1	Substitution - Missense(1)	p.D603N(1)	prostate(1)	breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20						c.(1807-1809)Gat>Aat		golgi-associated, gamma adaptin ear containing, ARF binding protein 3		C	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	84.0	60.0	68.0		1591,1441,1708,1807	5.2	1.0	17		68	1,8599		0,1,4299	no	missense,missense,missense,missense	GGA3	NM_001172703.1,NM_001172704.1,NM_014001.3,NM_138619.2	23,23,23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	531/652,481/593,570/691,603/724	73235138	1,13005	2203	4300	6503	SO:0001583	missense	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73235138C>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.1807G>A	17.37:g.73235138C>T	ENSP00000245541:p.Asp603Asn		OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1143	GGA3_ENST00000582717.1_Missense_Mutation_p.D531N|GGA3_ENST00000582486.1_Missense_Mutation_p.D531N|GGA3_ENST00000538886.1_Missense_Mutation_p.D481N|GGA3_ENST00000578348.1_Missense_Mutation_p.D481N|GGA3_ENST00000351904.7_Missense_Mutation_p.D570N	p.D603N	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		15	2023	-			603			GAE.		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Missense_Mutation	SNP	ENST00000245541.6	37	c.1807G>A	CCDS11717.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233057	0.58777	0.0	1.16E-4	ENSG00000125447	ENST00000245541;ENST00000351904;ENST00000537584;ENST00000538886	T;T;T	0.32753	1.44;1.44;1.44	5.24	5.24	0.73138	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.046837	0.85682	D	0.000000	T	0.54663	0.1872	M	0.64080	1.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.997	T	0.49428	-0.8941	10	0.42905	T	0.14	-15.6205	19.012	0.92877	0.0:1.0:0.0:0.0	.	481;570;603	B7Z7E2;Q9NZ52-2;Q9NZ52	.;.;GGA3_HUMAN	N	603;570;531;481	ENSP00000245541:D603N;ENSP00000326575:D570N;ENSP00000446421:D481N	ENSP00000245541:D603N	D	-	1	0	GGA3	70746733	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.651000	0.83577	2.724000	0.93272	0.563000	0.77884	GAT		0.592	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		7	27	0	0	0	0.411799	0	7	27				
ATP2B1	490	broad.mit.edu	37	12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr12:90020309T>C	ENST00000428670.3	-	8	1507	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	351					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.K351E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAATTTGCTTTCTTTTTATCT	0.373																																						ENST00000428670.3																			1	Substitution - Missense(1)	p.K351E(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						c.(1051-1053)Aaa>Gaa		ATPase, Ca++ transporting, plasma membrane 1							113.0	108.0	110.0					12																	90020309		2203	4300	6503	SO:0001583	missense	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90020309T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.1051A>G	12.37:g.90020309T>C	ENSP00000392043:p.Lys351Glu					ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E	p.K351E			P20020	AT2B1_HUMAN			8	1507	-			351					Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	c.1051A>G	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147228	0.57151	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.94457	-3.26;-3.23;-3.27;-3.26;-3.43	5.56	5.56	0.83823	.	0.046083	0.85682	D	0.000000	D	0.92378	0.7581	L	0.55103	1.725	0.48632	D	0.999684	B;B;B	0.33694	0.421;0.049;0.01	B;B;B	0.33750	0.169;0.101;0.01	D	0.90956	0.4809	9	.	.	.	-11.339	15.7182	0.77685	0.0:0.0:0.0:1.0	.	351;351;351	P20020-3;P20020-2;P20020-6	.;.;.	E	351;351;351;351;94	ENSP00000261173:K351E;ENSP00000343599:K351E;ENSP00000352054:K351E;ENSP00000392043:K351E;ENSP00000376869:K94E	.	K	-	1	0	ATP2B1	88544440	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.290000	0.72712	2.122000	0.65172	0.533000	0.62120	AAA		0.373	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682		21	190	0	0	0	0.575678	0	21	190				
ZKSCAN2	342357	broad.mit.edu	37	16	25251248	25251248	+	Silent	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:25251248G>T	ENST00000328086.7	-	7	3596	c.2793C>A	c.(2791-2793)acC>acA	p.T931T	CTD-2547G23.2_ENST00000569456.1_RNA	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	931					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T931T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCCGATGTTTGGTAAGAACAG	0.463																																						ENST00000328086.7																			1	Substitution - coding silent(1)	p.T931T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(2791-2793)acC>acA		zinc finger with KRAB and SCAN domains 2							114.0	102.0	106.0					16																	25251248		2197	4300	6497	SO:0001819	synonymous_variant	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25251248G>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.2793C>A	16.37:g.25251248G>T							p.T931T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	7	3596	-			931					A1L3B4|Q6ZN77	Silent	SNP	ENST00000328086.7	37	c.2793C>A	CCDS32410.1																																																																																				0.463	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		4	195	1	0	0.150653	0.150653	0.154958	4	195				
IGF2BP2	10644	broad.mit.edu	37	3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:185542687T>C	ENST00000382199.2	-	1	157	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	21	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)	p.Q21R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCAAAGAGCTGCCGGAGGTC	0.682																																						ENST00000382199.2																			1	Substitution - Missense(1)	p.Q21R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20						c.(61-63)cAg>cGg		insulin-like growth factor 2 mRNA binding protein 2							23.0	26.0	25.0					3																	185542687		2202	4299	6501	SO:0001583	missense	10644				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr3:185542687T>C	BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.62A>G	3.37:g.185542687T>C	ENSP00000371634:p.Gln21Arg					IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R	p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		1	157	-	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		21			RRM 1.		A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	ENST00000382199.2	37	c.62A>G	CCDS3273.2	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763597	0.31228	.	.	ENSG00000073792	ENST00000382199;ENST00000457616;ENST00000346192	T;T;T	0.17213	2.29;2.29;2.29	2.33	2.33	0.28932	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.105285	0.37715	U	0.001973	T	0.08088	0.0202	N	0.16066	0.365	0.80722	D	1	B;B;B	0.16603	0.008;0.018;0.009	B;B;B	0.22152	0.022;0.015;0.038	T	0.22034	-1.0228	10	0.20046	T	0.44	-4.6004	5.1301	0.14905	0.0:0.153:0.0:0.847	.	21;21;21	F8W930;Q9Y6M1-1;Q9Y6M1	.;.;IF2B2_HUMAN	R	21	ENSP00000371634:Q21R;ENSP00000410242:Q21R;ENSP00000320204:Q21R	ENSP00000320204:Q21R	Q	-	2	0	IGF2BP2	187025381	0.899000	0.30636	1.000000	0.80357	0.990000	0.78478	1.987000	0.40687	1.071000	0.40834	0.323000	0.21402	CAG		0.682	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157087.2	NM_006548		3	14	0	0	0	0.248553	0	3	14				
VCAN	1462	broad.mit.edu	37	5	82808055	82808055	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:82808055C>T	ENST00000265077.3	+	6	1447	c.882C>T	c.(880-882)tgC>tgT	p.C294C	VCAN_ENST00000512590.2_Silent_p.C246C|VCAN_ENST00000343200.5_Silent_p.C294C|VCAN_ENST00000502527.2_Silent_p.C294C|VCAN_ENST00000513984.1_Silent_p.C294C|VCAN_ENST00000342785.4_Silent_p.C294C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	294	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.C294C(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTGACCAGTGCGATTACGGGT	0.602																																						ENST00000265077.3																			2	Substitution - coding silent(2)	p.C294C(2)	prostate(2)	NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(880-882)tgC>tgT		versican							80.0	69.0	73.0					5																	82808055		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82808055C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.882C>T	5.37:g.82808055C>T						VCAN_ENST00000502527.2_Silent_p.C294C|VCAN_ENST00000512590.2_Silent_p.C246C|VCAN_ENST00000342785.4_Silent_p.C294C|VCAN_ENST00000513984.1_Silent_p.C294C|VCAN_ENST00000343200.5_Silent_p.C294C	p.C294C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	1447	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	294			Link 2.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.882C>T	CCDS4060.1																																																																																				0.602	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	81	0	0	0	0.361761	0	9	81				
ZNFX1	57169	broad.mit.edu	37	20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:47864642A>G	ENST00000396105.1	-	14	5165	c.4919T>C	c.(4918-4920)cTa>cCa	p.L1640P	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1640							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L1640P(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATCTCTTCTAGCCGCTGTTT	0.507																																						ENST00000396105.1																			2	Substitution - Missense(2)	p.L1640P(2)	prostate(2)	cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(4918-4920)cTa>cCa		zinc finger, NFX1-type containing 1							61.0	60.0	60.0					20																	47864642		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47864642A>G	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4919T>C	20.37:g.47864642A>G	ENSP00000379412:p.Leu1640Pro					ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P|ZNFX1_ENST00000371754.4_Intron	p.L1640P	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		14	5165	-			1640					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.4919T>C	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400193	0.62177	.	.	ENSG00000124201	ENST00000371752;ENST00000396105	T;T	0.57595	0.39;0.39	6.04	6.04	0.98038	.	0.078488	0.53938	D	0.000055	T	0.70971	0.3285	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73547	-0.3948	10	0.72032	D	0.01	-7.3466	15.4003	0.74834	1.0:0.0:0.0:0.0	.	1640	Q9P2E3	ZNFX1_HUMAN	P	1640	ENSP00000360817:L1640P;ENSP00000379412:L1640P	ENSP00000360817:L1640P	L	-	2	0	ZNFX1	47298049	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.283000	0.95860	2.317000	0.78254	0.459000	0.35465	CTA		0.507	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		42	82	0	0	0	0.847076	0	42	82				
BRINP1	1620	broad.mit.edu	37	9	121976298	121976298	+	Missense_Mutation	SNP	G	G	A	rs148052034		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr9:121976298G>A	ENST00000265922.3	-	6	1282	c.821C>T	c.(820-822)cCg>cTg	p.P274L	BRINP1_ENST00000373964.2_Missense_Mutation_p.P274L	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	274					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.P274L(1)									GTTGCACTGCGGAAACTCCTC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18851	0.0		0.001	False		,,,				2504	0.0					ENST00000265922.3																			1	Substitution - Missense(1)	p.P274L(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(820-822)cCg>cTg									131.0	113.0	119.0					9																	121976298		2203	4300	6503	SO:0001583	missense	0				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121976298G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.821C>T	9.37:g.121976298G>A	ENSP00000265922:p.Pro274Leu					DBC1_ENST00000373964.2_Missense_Mutation_p.P274L	p.P274L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			6	1282	-			274					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.821C>T	CCDS6822.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	20.5	4.006064	0.74932	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.55052	2.13;0.54	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73032	0.3535	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.75156	-0.3417	10	0.87932	D	0	-13.4369	18.6631	0.91478	0.0:0.0:1.0:0.0	.	274;274	O60477-2;O60477	.;DBC1_HUMAN	L	274	ENSP00000265922:P274L;ENSP00000363075:P274L	ENSP00000265922:P274L	P	-	2	0	DBC1	121016119	1.000000	0.71417	0.975000	0.42487	0.875000	0.50365	9.476000	0.97823	2.659000	0.90383	0.563000	0.77884	CCG		0.547	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		34	113	0	0	0	0.788014	0	34	113				
CLSTN2	64084	broad.mit.edu	37	3	140123402	140123402	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:140123402C>T	ENST00000458420.3	+	4	621	c.431C>T	c.(430-432)gCc>gTc	p.A144V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.A144V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTCCCAGGGCCGTGGTCCAT	0.547										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			1	Substitution - Missense(1)	p.A144V(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(430-432)gCc>gTc		calsyntenin 2							76.0	64.0	68.0					3																	140123402		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140123402C>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.431C>T	3.37:g.140123402C>T	ENSP00000402460:p.Ala144Val	HNSCC(16;0.037)					p.A144V	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			4	621	+			144			Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.431C>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165682	0.94768	.	.	ENSG00000158258	ENST00000458420	T	0.51817	0.69	5.51	5.51	0.81932	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66187	0.2764	M	0.64630	1.985	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.64166	-0.6471	10	0.41790	T	0.15	-10.2677	16.9267	0.86178	0.0:1.0:0.0:0.0	.	144	Q9H4D0	CSTN2_HUMAN	V	144	ENSP00000402460:A144V	ENSP00000402460:A144V	A	+	2	0	CLSTN2	141606092	1.000000	0.71417	0.989000	0.46669	0.986000	0.74619	7.711000	0.84669	2.584000	0.87258	0.563000	0.77884	GCC		0.547	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		21	91	0	0	0	0.592651	0	21	91				
ARID5A	10865	broad.mit.edu	37	2	97216909	97216909	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:97216909G>A	ENST00000357485.3	+	7	722	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ARID5A_ENST00000454558.2_Missense_Mutation_p.S147N	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	215					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S215N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCCAGGAACAGCACAGAACAG	0.587																																						ENST00000454558.2																			1	Substitution - Missense(1)	p.S215N(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(439-441)aGc>aAc		AT rich interactive domain 5A (MRF1-like)							60.0	67.0	65.0					2																	97216909		2203	4300	6503	SO:0001583	missense	10865				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	g.chr2:97216909G>A	M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.644G>A	2.37:g.97216909G>A	ENSP00000350078:p.Ser215Asn					ARID5A_ENST00000357485.3_Missense_Mutation_p.S215N	p.S147N			Q03989	ARI5A_HUMAN			7	1617	+			215			ARID.		Q6NX37	Missense_Mutation	SNP	ENST00000357485.3	37	c.440G>A	CCDS33251.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198701	0.38806	.	.	ENSG00000196843	ENST00000357485;ENST00000359765;ENST00000454558	T	0.65549	-0.16	5.01	2.22	0.28083	.	0.906771	0.09210	N	0.833373	T	0.49270	0.1547	L	0.51422	1.61	0.09310	N	1	P;B;B	0.42827	0.791;0.361;0.361	B;B;B	0.35859	0.212;0.118;0.118	T	0.32295	-0.9912	10	0.32370	T	0.25	-5.3032	4.859	0.13573	0.1899:0.1768:0.6333:0.0	.	215;147;215	A6NM59;C9J1Q0;Q03989	.;.;ARI5A_HUMAN	N	215;215;147	ENSP00000350078:S215N	ENSP00000350078:S215N	S	+	2	0	ARID5A	96580636	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.376000	0.20535	0.291000	0.22468	0.655000	0.94253	AGC		0.587	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338888.2	NM_212481		4	155	0	0	0	0.184627	0	4	155				
TRAF3IP2	10758	broad.mit.edu	37	6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:111912533G>T	ENST00000340026.6	-	3	1378	c.784C>A	c.(784-786)Ccc>Acc	p.P262T	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	262					B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.P253T(1)|p.P262T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAAAGATTGGGAGGCAGCATC	0.537																																						ENST00000368761.5																			2	Substitution - Missense(2)	p.P253T(1)|p.P262T(1)	prostate(2)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(757-759)Ccc>Acc		TRAF3 interacting protein 2							99.0	92.0	95.0					6																	111912533		2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912533G>T	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.784C>A	6.37:g.111912533G>T	ENSP00000345984:p.Pro262Thr					TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T	p.P253T	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	1235	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	262					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.757C>A		.	.	.	.	.	.	.	.	.	.	G	10.72	1.430289	0.25726	.	.	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.32753	1.45;1.44;1.44	5.84	4.05	0.47172	.	0.353536	0.28036	N	0.016855	T	0.18467	0.0443	M	0.61703	1.905	0.80722	D	1	B;B;B	0.26845	0.1;0.161;0.1	B;B;B	0.31495	0.062;0.131;0.062	T	0.03268	-1.1054	10	0.51188	T	0.08	0.4512	10.6512	0.45649	0.0698:0.1315:0.7988:0.0	.	262;253;253	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	T	262;253;262;253	ENSP00000357750:P253T;ENSP00000345984:P262T;ENSP00000352889:P253T	ENSP00000345984:P262T	P	-	1	0	TRAF3IP2	112019226	0.993000	0.37304	0.561000	0.28357	0.398000	0.30690	2.914000	0.48797	0.797000	0.33971	-0.273000	0.10243	CCC		0.537	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			31	48	1	0	4.66903e-05	0.750413	5.51098e-05	31	48				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	170	0	0	0	0.150653	0	4	170				
CMYA5	202333	broad.mit.edu	37	5	79026181	79026181	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:79026181C>T	ENST00000446378.2	+	2	1624	c.1593C>T	c.(1591-1593)atC>atT	p.I531I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	531	Glu-rich.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.I531I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGAAGAGATCGTAGAACTTG	0.418																																						ENST00000446378.2																			2	Substitution - coding silent(2)	p.I531I(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(1591-1593)atC>atT		cardiomyopathy associated 5							108.0	104.0	105.0					5																	79026181		1859	4097	5956	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79026181C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1593C>T	5.37:g.79026181C>T							p.I531I	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	1624	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	531			Glu-rich.		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.1593C>T	CCDS47238.1																																																																																				0.418	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		83	156	0	0	0	0.870114	0	83	156				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	38	0	0	0	0.654019	0	24	38				
NBAS	51594	broad.mit.edu	37	2	15468434	15468434	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:15468434C>T	ENST00000281513.5	-	37	4375	c.4350G>A	c.(4348-4350)ggG>ggA	p.G1450G	NBAS_ENST00000441750.1_Silent_p.G1330G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.G1450G(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACATTTTTGCCCCTaaaaag	0.388																																						ENST00000281513.5																			2	Substitution - coding silent(2)	p.G1450G(2)	prostate(1)|endometrium(1)	NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(4348-4350)ggG>ggA		neuroblastoma amplified sequence							117.0	112.0	113.0					2																	15468434		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15468434C>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4350G>A	2.37:g.15468434C>T						NBAS_ENST00000441750.1_Silent_p.G1330G	p.G1450G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			37	4375	-			1450					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.4350G>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	0.143	-1.099915	0.01843	.	.	ENSG00000151779	ENST00000442506	T	0.19250	2.16	5.31	-1.69	0.08186	.	0.141685	0.64402	D	0.000004	T	0.20901	0.0503	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11060	-1.0603	7	0.72032	D	0.01	.	1.3666	0.02202	0.3255:0.3079:0.2099:0.1567	.	.	.	.	D	498	ENSP00000398411:G498D	ENSP00000398411:G498D	G	-	2	0	NBAS	15385885	0.390000	0.25213	0.635000	0.29338	0.005000	0.04900	-0.633000	0.05483	-0.238000	0.09724	-0.808000	0.03180	GGC		0.388	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		5	303	0	0	0	0.184627	0	5	303				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	66	0	0	0	0.150653	0	4	66				
SAFB2	9667	broad.mit.edu	37	19	5598870	5598870	+	Silent	SNP	G	G	A	rs149716077		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:5598870G>A	ENST00000252542.4	-	13	1980	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	SAFB2_ENST00000591310.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	572					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V572V(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TATCCATCACGACCGTCCGCT	0.507																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			1	Substitution - coding silent(1)	p.V572V(1)	prostate(1)	endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1714-1716)gtC>gtT		scaffold attachment factor B2							222.0	169.0	187.0					19																	5598870		2203	4300	6503	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5598870G>A	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.1716C>T	19.37:g.5598870G>A							p.V572V	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	13	1980	-			572					B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.1716C>T	CCDS32879.1																																																																																				0.507	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		30	75	0	0	0	0.750413	0	30	75				
TNFRSF10A	8797	broad.mit.edu	37	8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:23056931C>A	ENST00000221132.3	-	8	926	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	288					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)	p.G288W(2)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCCCAGGCCCTCGTAGGAGA	0.602																																						ENST00000221132.3																			2	Substitution - Missense(2)	p.G288W(2)	prostate(2)	NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16						c.(862-864)Ggg>Tgg		tumor necrosis factor receptor superfamily, member 10a							78.0	79.0	79.0					8																	23056931		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23056931C>A	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.862G>T	8.37:g.23056931C>A	ENSP00000221132:p.Gly288Trp						p.G288W	NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	8	926	-		Prostate(55;0.0421)|Breast(100;0.14)	288					A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.862G>T	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076509	0.36662	.	.	ENSG00000104689	ENST00000221132	D	0.84660	-1.88	3.69	-0.429	0.12303	.	12.694400	0.00797	N	0.001383	T	0.79834	0.4514	L	0.50333	1.59	0.09310	N	1	P	0.39131	0.661	B	0.36186	0.219	T	0.66168	-0.5991	10	0.72032	D	0.01	.	2.6408	0.04970	0.2117:0.4169:0.0:0.3713	.	288	O00220	TR10A_HUMAN	W	288	ENSP00000221132:G288W	ENSP00000221132:G288W	G	-	1	0	TNFRSF10A	23112876	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	0.222000	0.17699	-0.009000	0.14296	0.591000	0.81541	GGG		0.602	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2	NM_003844		4	90	1	0	0.150653	0.150653	0.154958	4	90				
MMRN1	22915	broad.mit.edu	37	4	90872798	90872798	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:90872798G>C	ENST00000394980.1	+	8	3480	c.3161G>C	c.(3160-3162)gGc>gCc	p.G1054A	MMRN1_ENST00000508372.1_Missense_Mutation_p.G796A|MMRN1_ENST00000394981.1_Missense_Mutation_p.G357A|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1054A			Q13201	MMRN1_HUMAN	multimerin 1	1054	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.G1054A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAAATGGGGGCACGTGCATA	0.423																																						ENST00000394980.1																			1	Substitution - Missense(1)	p.G1054A(1)	prostate(1)	breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(3160-3162)gGc>gCc		multimerin 1							105.0	89.0	94.0					4																	90872798		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90872798G>C	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3161G>C	4.37:g.90872798G>C	ENSP00000378431:p.Gly1054Ala					MMRN1_ENST00000508372.1_Missense_Mutation_p.G796A|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1054A|MMRN1_ENST00000394981.1_Missense_Mutation_p.G357A	p.G1054A			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	8	3480	+		Hepatocellular(203;0.114)	1054			EGF-like.		Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3161G>C	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992139	0.54041	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981;ENST00000508372	D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97	4.88	4.88	0.63580	Concanavalin A-like lectin/glucanase, subgroup (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.97393	0.9147	L	0.50919	1.6	0.39208	D	0.963265	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.98604	1.0660	10	0.62326	D	0.03	.	18.9289	0.92556	0.0:0.0:1.0:0.0	.	357;1054	Q13201-2;Q13201	.;MMRN1_HUMAN	A	1054;1054;357;796	ENSP00000378431:G1054A;ENSP00000264790:G1054A;ENSP00000378432:G357A;ENSP00000426461:G796A	ENSP00000264790:G1054A	G	+	2	0	MMRN1	91091821	1.000000	0.71417	1.000000	0.80357	0.086000	0.17979	6.183000	0.72002	2.636000	0.89361	0.591000	0.81541	GGC		0.423	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		31	81	0	0	0	0.717897	0	31	81				
NPAT	4863	broad.mit.edu	37	11	108031665	108031665	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:108031665C>T	ENST00000278612.8	-	17	4253	c.4148G>A	c.(4147-4149)cGt>cAt	p.R1383H		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1383					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1383H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTAGAAGGACGAGAGTTTCG	0.333																																						ENST00000278612.8																			1	Substitution - Missense(1)	p.R1383H(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46						c.(4147-4149)cGt>cAt		nuclear protein, ataxia-telangiectasia locus							102.0	95.0	97.0					11																	108031665		1843	4083	5926	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108031665C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.4148G>A	11.37:g.108031665C>T	ENSP00000278612:p.Arg1383His						p.R1383H	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	17	4253	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1383					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.4148G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663246	0.67700	.	.	ENSG00000149308	ENST00000278612	T	0.07444	3.19	5.13	5.13	0.70059	.	0.187644	0.47093	D	0.000247	T	0.13072	0.0317	L	0.48642	1.525	0.50467	D	0.999873	D	0.61080	0.989	P	0.50570	0.644	T	0.01604	-1.1314	10	0.34782	T	0.22	-11.7032	12.3346	0.55060	0.0:0.9219:0.0:0.0781	.	1383	Q14207	NPAT_HUMAN	H	1383	ENSP00000278612:R1383H	ENSP00000278612:R1383H	R	-	2	0	NPAT	107536875	1.000000	0.71417	0.994000	0.49952	0.794000	0.44872	5.290000	0.65661	2.559000	0.86315	0.555000	0.69702	CGT		0.333	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		28	89	0	0	0	0.706142	0	28	89				
SLC2A9	56606	broad.mit.edu	37	4	9828095	9828095	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:9828095T>G	ENST00000264784.3	-	12	1602	c.1549A>C	c.(1549-1551)Agg>Cgg	p.R517R	SLC2A9_ENST00000309065.3_Silent_p.R488R|SLC2A9_ENST00000506583.1_Silent_p.R488R	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.R488R(1)|p.R517R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	GCTTTGTTCCTTTTGGAAAAT	0.428																																						ENST00000506583.1																			2	Substitution - coding silent(2)	p.R488R(1)|p.R517R(1)	prostate(2)	NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(1462-1464)Agg>Cgg		solute carrier family 2 (facilitated glucose transporter), member 9							174.0	161.0	166.0					4																	9828095		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828095T>G	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1549A>C	4.37:g.9828095T>G						SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R	p.R488R			Q9NRM0	GTR9_HUMAN			14	1679	-			517					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1462A>C	CCDS3407.1																																																																																				0.428	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			6	316	0	0	0	0.278610	0	6	316				
MRC2	9902	broad.mit.edu	37	17	60742200	60742200	+	Missense_Mutation	SNP	G	G	A	rs370889422		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:60742200G>A	ENST00000303375.5	+	2	812	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	137	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)	p.R137H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGGGGCCCGCACCAGCAAC	0.617																																						ENST00000303375.5																			1	Substitution - Missense(1)	p.R137H(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						c.(409-411)cGc>cAc		mannose receptor, C type 2		G	HIS/ARG	0,4406		0,0,2203	59.0	55.0	57.0		410	3.7	0.9	17		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	MRC2	NM_006039.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	137/1480	60742200	1,13005	2203	4300	6503	SO:0001583	missense	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60742200G>A	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.410G>A	17.37:g.60742200G>A	ENSP00000307513:p.Arg137His						p.R137H	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN			2	812	+			137			Ricin B-type lectin.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	c.410G>A	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856718	0.32791	0.0	1.16E-4	ENSG00000011028	ENST00000303375	T	0.29917	1.55	4.7	3.66	0.41972	Ricin B-related lectin (1);Ricin B lectin (1);	0.389653	0.27172	N	0.020593	T	0.22704	0.0548	L	0.36672	1.1	0.58432	D	0.999996	D	0.53151	0.958	B	0.42214	0.38	T	0.01081	-1.1458	10	0.33141	T	0.24	-11.1172	9.8054	0.40791	0.1694:0.0:0.8306:0.0	.	137	Q9UBG0	MRC2_HUMAN	H	137	ENSP00000307513:R137H	ENSP00000307513:R137H	R	+	2	0	MRC2	58095932	0.986000	0.35501	0.928000	0.36995	0.282000	0.26991	2.048000	0.41278	2.450000	0.82876	0.561000	0.74099	CGC		0.617	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			4	121	0	0	0	0.150653	0	4	121				
PCDHA10	56139	broad.mit.edu	37	5	140237390	140237390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:140237390C>T	ENST00000307360.5	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	586					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A586V(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGGTTGCGGGTCACGTG	0.657																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.A586V(2)	prostate(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1756-1758)gCg>gTg									89.0	84.0	86.0					5																	140237390		1322	2291	3613	SO:0001583	missense	0							g.chr5:140237390C>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1757C>T	5.37:g.140237390C>T	ENSP00000304234:p.Ala586Val					PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A586V	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1757	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1757C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346446	0.11126	.	.	ENSG00000250120	ENST00000307360	T	0.36520	1.25	3.68	2.8	0.32819	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.23688	0.0573	N	0.22421	0.69	0.09310	N	1	B;B	0.28026	0.198;0.057	B;B	0.18263	0.018;0.021	T	0.09574	-1.0668	9	0.37606	T	0.19	.	11.8505	0.52410	0.0:0.9077:0.0:0.0923	.	586;586	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	V	586	ENSP00000304234:A586V	ENSP00000304234:A586V	A	+	2	0	PCDHA10	140217574	0.000000	0.05858	0.037000	0.18230	0.001000	0.01503	0.773000	0.26661	2.041000	0.60428	0.491000	0.48974	GCG		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		13	28	0	0	0	0.479597	0	13	28				
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs532197977		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:45128685T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TTCCAGGATATGGCTATACTG	0.303																																						ENST00000575173.1																			0																																																			0							g.chr17:45128685T>C																													17.37:g.45128685T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.303	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	184	0	0	0	0.184627	0	4	184				
OR5I1	10798	broad.mit.edu	37	11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	rs144543203		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:55703643G>T	ENST00000301532.3	-	1	233	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	78					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D78E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383																																						ENST00000301532.3																			1	Substitution - Missense(1)	p.D78E(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(232-234)gaC>gaA		olfactory receptor, family 5, subfamily I, member 1							49.0	51.0	50.0					11																	55703643		2198	4295	6493	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703643G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.234C>A	11.37:g.55703643G>T	ENSP00000301532:p.Asp78Glu						p.D78E	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	233	-			78					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.234C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558810	0.27827	.	.	ENSG00000167825	ENST00000301532	T	0.00428	7.44	5.05	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.338625	0.21274	N	0.077269	T	0.00241	0.0007	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.49716	-0.8910	10	0.72032	D	0.01	.	1.8233	0.03115	0.1784:0.1621:0.4922:0.1674	.	78	Q13606	OR5I1_HUMAN	E	78	ENSP00000301532:D78E	ENSP00000301532:D78E	D	-	3	2	OR5I1	55460219	0.000000	0.05858	0.974000	0.42286	0.631000	0.37964	-1.582000	0.02117	0.624000	0.30286	0.637000	0.83480	GAC		0.383	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		4	104	1	0	0.00909568	0.150653	0.00977446	4	104				
NPC1L1	29881	broad.mit.edu	37	7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:44561339A>C	ENST00000289547.4	-	12	2980	c.2925T>G	c.(2923-2925)aaT>aaG	p.N975K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	975					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.N975K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTTGTCCTTATTGGGGCCAG	0.577																																						ENST00000289547.4																			1	Substitution - Missense(1)	p.N975K(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2923-2925)aaT>aaG		NPC1-like 1	Ezetimibe(DB00973)						78.0	77.0	77.0					7																	44561339		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44561339A>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2925T>G	7.37:g.44561339A>C	ENSP00000289547:p.Asn975Lys					NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K	p.N975K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			12	2980	-			975					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2925T>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486841	0.26686	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93189	-3.07;-3.07;-3.18	5.49	-4.95	0.03048	.	0.128206	0.48767	D	0.000180	T	0.82263	0.4999	L	0.38838	1.175	0.21325	N	0.999727	B;B;P	0.36990	0.417;0.018;0.577	B;B;B	0.32864	0.093;0.017;0.154	T	0.78425	-0.2209	10	0.07990	T	0.79	-9.2902	7.8959	0.29706	0.2123:0.0:0.5473:0.2404	.	929;975;975	B7ZLE6;Q17RV5;D3DVK9	.;.;.	K	975;975;929	ENSP00000289547:N975K;ENSP00000370552:N975K;ENSP00000438033:N929K	ENSP00000289547:N975K	N	-	3	2	NPC1L1	44527864	0.001000	0.12720	0.011000	0.14972	0.026000	0.11368	-0.145000	0.10265	-0.401000	0.07644	0.533000	0.62120	AAT		0.577	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	110	0	0	0	0.150653	0	3	110				
GIPC3	126326	broad.mit.edu	37	19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:3589510C>A	ENST00000322315.5	+	4	707	c.662C>A	c.(661-663)aCc>aAc	p.T221N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	221			T -> I (in DFNB15). {ECO:0000269|PubMed:21660509}.					p.T221N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGGAGACCCTGCGGCTT	0.612																																						ENST00000322315.5																			1	Substitution - Missense(1)	p.T221N(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(661-663)aCc>aAc		GIPC PDZ domain containing family, member 3							51.0	56.0	55.0					19																	3589510		2203	4300	6503	SO:0001583	missense	126326							g.chr19:3589510C>A	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.662C>A	19.37:g.3589510C>A	ENSP00000319254:p.Thr221Asn						p.T221N	NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	707	+			221					O75227	Missense_Mutation	SNP	ENST00000322315.5	37	c.662C>A	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474872	0.84640	.	.	ENSG00000179855	ENST00000322315	D	0.87179	-2.22	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.83312	2.635	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.94404	0.7625	10	0.87932	D	0	-33.5991	14.6376	0.68702	0.0:1.0:0.0:0.0	.	221	Q8TF64	GIPC3_HUMAN	N	221	ENSP00000319254:T221N	ENSP00000319254:T221N	T	+	2	0	GIPC3	3540510	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.368000	0.73104	2.034000	0.60081	0.484000	0.47621	ACC		0.612	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		10	81	1	0	3.86212e-05	0.361761	4.63454e-05	10	81				
PNLIPRP1	5407	broad.mit.edu	37	10	118357365	118357365	+	Silent	SNP	C	C	T	rs113515929	byFrequency	TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:118357365C>T	ENST00000528052.1	+	7	671	c.600C>T	c.(598-600)ttC>ttT	p.F200F	PNLIPRP1_ENST00000534537.1_Silent_p.F200F|PNLIPRP1_ENST00000358834.4_Silent_p.F200F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	200					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.F200F(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGCAAGTTTCGAGAGTACTC	0.493													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20282	0.0		0.0	False		,,,				2504	0.0					ENST00000528052.1																			1	Substitution - coding silent(1)	p.F200F(1)	prostate(1)	breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(598-600)ttC>ttT		pancreatic lipase-related protein 1		C		1,4405	2.1+/-5.4	0,1,2202	168.0	147.0	154.0		600	-4.3	0.1	10	dbSNP_132	154	0,8600		0,0,4300	no	coding-synonymous	PNLIPRP1	NM_006229.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		200/468	118357365	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357365C>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.600C>T	10.37:g.118357365C>T						PNLIPRP1_ENST00000358834.4_Silent_p.F200F|PNLIPRP1_ENST00000534537.1_Silent_p.F200F	p.F200F			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	7	671	+			200					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Silent	SNP	ENST00000528052.1	37	c.600C>T	CCDS7595.1																																																																																				0.493	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		43	119	0	0	0	0.847076	0	43	119				
TRIM65	201292	broad.mit.edu	37	17	73887232	73887232	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73887232C>T	ENST00000269383.3	-	6	1247	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S394S(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGTGTCACCGAGTGGTCTG	0.692																																						ENST00000269383.3																			1	Substitution - coding silent(1)	p.S394S(1)	prostate(1)	endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1180-1182)tcG>tcA		tripartite motif containing 65							42.0	43.0	43.0					17																	73887232		2201	4299	6500	SO:0001819	synonymous_variant	201292					intracellular	zinc ion binding	g.chr17:73887232C>T	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1182G>A	17.37:g.73887232C>T							p.S394S	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	1247	-			394			B30.2/SPRY.		Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	37	c.1182G>A	CCDS11732.1	.	.	.	.	.	.	.	.	.	.	C	0.016	-1.515437	0.00975	.	.	ENSG00000141569	ENST00000543309	.	.	.	5.31	-10.6	0.00265	.	.	.	.	.	T	0.43787	0.1263	.	.	.	0.40726	D	0.982704	.	.	.	.	.	.	T	0.61153	-0.7120	4	.	.	.	.	6.8111	0.23805	0.2255:0.4057:0.3051:0.0638	.	.	.	.	Q	246	.	.	R	-	2	0	TRIM65	71398827	0.000000	0.05858	0.009000	0.14445	0.021000	0.10359	-6.965000	0.00048	-4.513000	0.00045	-2.302000	0.00260	CGG		0.692	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2	NM_173547		4	88	0	0	0	0.150653	0	4	88				
CACNG3	10368	broad.mit.edu	37	16	24373178	24373178	+	Silent	SNP	C	C	T	rs201263434		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:24373178C>T	ENST00000005284.3	+	4	2144	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	314					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.P314P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552																																						ENST00000005284.3																			1	Substitution - coding silent(1)	p.P314P(1)	prostate(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(940-942)ccC>ccT		calcium channel, voltage-dependent, gamma subunit 3							39.0	41.0	40.0					16																	24373178		2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373178C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.942C>T	16.37:g.24373178C>T							p.P314P	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2144	+			314						Silent	SNP	ENST00000005284.3	37	c.942C>T	CCDS10620.1																																																																																				0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		27	72	0	0	0	0.706142	0	27	72				
GANC	2595	broad.mit.edu	37	15	42602622	42602622	+	Silent	SNP	G	G	A	rs369762885		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr15:42602622G>A	ENST00000318010.8	+	9	1104	c.864G>A	c.(862-864)tcG>tcA	p.S288S	GANC_ENST00000566442.1_Silent_p.S288S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	288					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.S288S(2)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TGAATGCCTCGGAAACACTGG	0.418																																						ENST00000318010.8																			2	Substitution - coding silent(2)	p.S288S(2)	prostate(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(862-864)tcG>tcA		glucosidase, alpha; neutral C		G		1,4405	2.1+/-5.4	0,1,2202	73.0	72.0	72.0		864	-7.7	0.9	15		72	0,8598		0,0,4299	no	coding-synonymous	GANC	NM_198141.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		288/915	42602622	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42602622G>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.864G>A	15.37:g.42602622G>A						GANC_ENST00000566442.1_Silent_p.S288S	p.S288S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	9	1104	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	288					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.864G>A	CCDS10084.1																																																																																				0.418	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		36	70	0	0	0	0.779181	0	36	70				
CACNA1E	777	broad.mit.edu	37	1	181762828	181762828	+	Missense_Mutation	SNP	G	G	A	rs547396023		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:181762828G>A	ENST00000367573.2	+	45	5926	c.5926G>A	c.(5926-5928)Gtg>Atg	p.V1976M	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1927M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367567.4_Intron	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1976					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.V1976M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTAAAAAGCGTGCAGCCCTC	0.517																																						ENST00000357570.5																			1	Substitution - Missense(1)	p.V1976M(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5779-5781)Gtg>Atg		calcium channel, voltage-dependent, R type, alpha 1E subunit							28.0	25.0	26.0					1																	181762828		876	1991	2867	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181762828G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5926G>A	1.37:g.181762828G>A	ENSP00000356545:p.Val1976Met					CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1976M|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367570.1_Intron	p.V1927M			Q15878	CAC1E_HUMAN			45	6091	+			1976					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5779G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178579	0.57692	.	.	ENSG00000198216	ENST00000357570;ENST00000360108;ENST00000367573	D;D;D	0.96168	-3.93;-3.93;-3.93	5.8	5.8	0.92144	.	1.727870	0.02584	N	0.099229	D	0.93585	0.7952	N	0.08118	0	0.80722	D	1	.	.	.	.	.	.	T	0.74657	-0.3592	8	0.30078	T	0.28	.	19.6581	0.95851	0.0:0.0:1.0:0.0	.	.	.	.	M	1927;1957;1976	ENSP00000350183:V1927M;ENSP00000353222:V1957M;ENSP00000356545:V1976M	ENSP00000350183:V1927M	V	+	1	0	CACNA1E	180029451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.203000	0.72137	2.735000	0.93741	0.655000	0.94253	GTG		0.517	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	27	0	0	0	0.217242	0	6	27				
LINC01378	103689918	broad.mit.edu	37	4	118496039	118496040	+	lincRNA	INS	-	-	A	rs375830371		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:118496039_118496040insA	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							TCTTTTTTTTTAATGGGTTAGA	0.342																																						ENST00000422145.3																			0																																																			0							g.chr4:118496039_118496040insA																													4.37:g.118496041_118496041dupA						NT5C3AP1_ENST00000441170.1_RNA								0	159	+									RNA	INS	ENST00000422145.3	37																																																																																						0.342	AC092661.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000291362.3			2	4						2	4	---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:185340707delG	ENST00000393593.3	-	3	310	c.103delC	c.(103-105)cagfs	p.Q35fs	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	35					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(103-105)agfs		interferon regulatory factor 2							71.0	74.0	73.0					4																	185340707		2203	4300	6503	SO:0001589	frameshift_variant	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185340707delG		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.103delC	4.37:g.185340707delG	ENSP00000377218:p.Gln35fs					IRF2_ENST00000512020.1_5'UTR	p.Q35fs	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	3	310	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	35					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Frame_Shift_Del	DEL	ENST00000393593.3	37	c.103delC	CCDS3835.1																																																																																				0.423	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			24	73						24	73	---	---	---	---
CTC-338M12.4	101928649	broad.mit.edu	37	5	180699084	180699085	+	RNA	INS	-	-	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:180699084_180699085insA	ENST00000511331.1	+	0	916_917				TRIM52-AS1_ENST00000507434.1_RNA																							GGCTTTCCATCAGAAAAAAAAA	0.411																																						ENST00000511331.1																			0																																																			0							g.chr5:180699084_180699085insA																													5.37:g.180699085_180699085dupA						CTC-338M12.3_ENST00000507434.1_RNA								0	916_917	+									RNA	INS	ENST00000511331.1	37																																																																																						0.411	CTC-338M12.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000371318.1			2	4						2	4	---	---	---	---
USP31	57478	broad.mit.edu	37	16	23080918	23080918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:23080918delT	ENST00000219689.7	-	16	2507	c.2508delA	c.(2506-2508)ccafs	p.P836fs	USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTCACAAATGGTCGAGTTG	0.443																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(2506-2508)ccfs		ubiquitin specific peptidase 31							44.0	39.0	40.0					16																	23080918		2197	4300	6497	SO:0001589	frameshift_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080918delT	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2508delA	16.37:g.23080918delT	ENSP00000219689:p.Pro836fs					USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	p.P836fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	2507	-			836			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	ENST00000219689.7	37	c.2508delA	CCDS10607.1																																																																																				0.443	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		12	49						12	49	---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49508203	49508204	+	Frame_Shift_Ins	INS	-	-	T	rs6096163		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:49508203_49508204insT	ENST00000396029.3	-	5	3614_3615	c.3047_3048insA	c.(3046-3048)aagfs	p.K1016fs	ADNP_ENST00000349014.3_Frame_Shift_Ins_p.K1016fs|ADNP_ENST00000396032.3_Frame_Shift_Ins_p.K1016fs|ADNP_ENST00000371602.4_Frame_Shift_Ins_p.K1016fs	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	1016					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCATGGTAGCCTTTTTTTTGGC	0.46																																						ENST00000396029.3																			0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(3046-3048)agcfs		activity-dependent neuroprotector homeobox																																				SO:0001589	frameshift_variant	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49508203_49508204insT	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.3048dupA	20.37:g.49508211_49508211dupT	ENSP00000379346:p.Lys1016fs					ADNP_ENST00000349014.3_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000371602.4_Frame_Shift_Ins_p.S1016fs|ADNP_ENST00000396032.3_Frame_Shift_Ins_p.S1016fs	p.S1016fs	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN			5	3614_3615	-			1016					E1P5Y2|O94881|Q5BKU2|Q9UG34	Frame_Shift_Ins	INS	ENST00000396029.3	37	c.3047_3048insA	CCDS13433.1																																																																																				0.460	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	NM_181442		8	316						8	316	---	---	---	---
