#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
CCDC88A	55704	broad.mit.edu	37	2	55566774	55566774	+	Silent	SNP	T	T	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:55566774T>C	ENST00000436346.1	-	13	2185	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.K448K|CCDC88A_ENST00000336838.6_Silent_p.K448K|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	448					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GGCCCAGGGATTTCTGGGGTG	0.338																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1342-1344)aaA>aaG		coiled-coil domain containing 88A							71.0	72.0	72.0					2																	55566774		2203	4300	6503	SO:0001819	synonymous_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55566774T>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1344A>G	2.37:g.55566774T>C						AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K|CCDC88A_ENST00000336838.6_Silent_p.K448K|CCDC88A_ENST00000263630.8_Silent_p.K448K|AC012358.8_ENST00000599352.1_RNA	p.K448K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			13	2185	-			448					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Silent	SNP	ENST00000436346.1	37	c.1344A>G																																																																																					0.338	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		4	50	0	0	0	1	0	4	50				
ITGB6	3694	broad.mit.edu	37	2	161052119	161052119	+	Silent	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:161052119C>T	ENST00000283249.2	-	4	591	c.354G>A	c.(352-354)gcG>gcA	p.A118A	ITGB6_ENST00000428609.2_Silent_p.A76A|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000409967.2_Silent_p.A118A	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	118					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCAGAGTCTGCGCACCACCTG	0.532																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(352-354)gcG>gcA		integrin, beta 6							64.0	58.0	60.0					2																	161052119		2203	4300	6503	SO:0001819	synonymous_variant	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052119C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.354G>A	2.37:g.161052119C>T						ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.A76A|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000409967.2_Silent_p.A118A	p.A118A			P18564	ITB6_HUMAN			4	591	-			118					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	ENST00000283249.2	37	c.354G>A	CCDS2212.1																																																																																				0.532	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		3	48	0	0	0	1	0	3	48				
MGAT4B	11282	broad.mit.edu	37	5	179228989	179228989	+	Intron	SNP	C	C	T	rs548114496		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:179228989C>T	ENST00000292591.7	-	2	448				MGAT4B_ENST00000337755.5_Silent_p.T41T|MGAT4B_ENST00000521305.1_Intron	NM_014275.4	NP_055090.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B						cellular protein metabolic process (GO:0044267)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGGCAAGCCGTCACGAGGG	0.627											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0008	0.0	5008	,	,		12039	0.0		0.0	False		,,,				2504	0.0				GBM(13;414 434 4098 22176 23230)	ENST00000337755.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13						c.(121-123)acG>acA		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B							62.0	71.0	68.0					5																	179228989		2203	4300	6503	SO:0001627	intron_variant	11282				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:179228989C>T	AB000624	CCDS4448.1, CCDS4449.1	5q35	2013-02-25	2005-11-16		ENSG00000161013	ENSG00000161013	2.4.1.145	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7048	protein-coding gene	gene with protein product		604561	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B"""			10372966	Standard	NM_014275		Approved	GnT-Ivb	uc003mks.3	Q9UQ53	OTTHUMG00000130912	ENST00000292591.7:c.98-20G>A	5.37:g.179228989C>T			OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1952	MGAT4B_ENST00000292591.7_Intron|MGAT4B_ENST00000521305.1_Intron	p.T41T	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	1009	-	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	0					A8MPR0|Q86TF1|Q96GH4|Q9NSK6	Silent	SNP	ENST00000292591.7	37	c.123G>A	CCDS4448.1																																																																																				0.627	MGAT4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253503.3	NM_014275		16	69	0	0	0	1	0	16	69				
CTSV	1515	broad.mit.edu	37	9	99800203	99800203	+	Silent	SNP	G	G	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr9:99800203G>C	ENST00000259470.5	-	2	372	c.123C>G	c.(121-123)ggC>ggG	p.G41G	CTSV_ENST00000538255.1_Silent_p.G41G|CTSV_ENST00000479932.1_5'UTR	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	41					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										TACCAACCGCGCCATATAATC	0.478																																						ENST00000259470.5																			0											c.(121-123)ggC>ggG		cathepsin V							132.0	134.0	133.0					9																	99800203		2203	4300	6503	SO:0001819	synonymous_variant	1515							g.chr9:99800203G>C	Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.123C>G	9.37:g.99800203G>C						CTSV_ENST00000479932.1_5'UTR|CTSV_ENST00000538255.1_Silent_p.G41G	p.G41G	NM_001333.3	NP_001324.2					2	372	-								O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	c.123C>G	CCDS6723.1																																																																																				0.478	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		5	69	0	0	0	1	0	5	69				
KCNIP1	30820	broad.mit.edu	37	5	170160874	170160874	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:170160874T>C	ENST00000411494.1	+	8	608	c.608T>C	c.(607-609)tTa>tCa	p.L203S	KCNIP1_ENST00000328939.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	203	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGTAACTTTAGATGAATTT	0.428																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(574-576)tTa>tCa		Kv channel interacting protein 1							113.0	107.0	109.0					5																	170160874		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170160874T>C	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.608T>C	5.37:g.170160874T>C	ENSP00000395323:p.Leu203Ser					KCNIP1_ENST00000411494.1_Missense_Mutation_p.L203S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S	p.L192S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1112	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	203			EF-hand 4.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.575T>C	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.589238	0.86851	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	5.66	5.66	0.87406	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.67145	0.973;0.961;0.996;0.996	P;P;P;P	0.60236	0.871;0.765;0.749;0.831	D	0.89855	0.4012	9	.	.	.	.	13.863	0.63573	0.0:0.0:0.0:1.0	.	217;192;203;201	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	S	201;192;192;164;217;203	ENSP00000366577:L201S;ENSP00000329686:L192S;ENSP00000375071:L192S;ENSP00000431102:L164S;ENSP00000414886:L217S;ENSP00000395323:L203S	.	L	+	2	0	KCNIP1	170093452	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.156000	0.67533	0.528000	0.53228	TTA		0.428	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			4	45	0	0	0	1	0	4	45				
FKBP8	23770	broad.mit.edu	37	19	18652528	18652528	+	Missense_Mutation	SNP	C	C	T	rs374983500		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:18652528C>T	ENST00000596558.2	-	2	362	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000222308.4_Missense_Mutation_p.A85T|FKBP8_ENST00000597960.3_Missense_Mutation_p.A85T|FKBP8_ENST00000610101.1_Missense_Mutation_p.A85T|FKBP8_ENST00000608443.1_Missense_Mutation_p.A85T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	85	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGGCTGGGGCGGGCTCGGGC	0.692																																						ENST00000597960.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						c.(253-255)Gcc>Acc		FK506 binding protein 8, 38kDa		C	THR/ALA	0,4398		0,0,2199	22.0	27.0	25.0		253	1.9	0.0	19		25	1,8593		0,1,4296	no	missense	FKBP8	NM_012181.3	58	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	benign	85/414	18652528	1,12991	2199	4297	6496	SO:0001583	missense	23770				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	g.chr19:18652528C>T	L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.253G>A	19.37:g.18652528C>T	ENSP00000472302:p.Ala85Thr					FKBP8_ENST00000596558.1_Missense_Mutation_p.A85T|FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000544835.2_Missense_Mutation_p.A85T|FKBP8_ENST00000222308.3_Missense_Mutation_p.A85T	p.A85T			Q14318	FKBP8_HUMAN			2	373	-			85			Glu-rich.		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37	c.253G>A		.	.	.	.	.	.	.	.	.	.	C	7.399	0.632364	0.14322	0.0	1.16E-4	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.36878	1.23;1.85;1.48	2.98	1.91	0.25777	.	0.996520	0.08131	N	0.993175	T	0.12732	0.0309	N	0.08118	0	0.09310	N	1	B;P;P	0.46987	0.021;0.821;0.888	B;B;B	0.27500	0.004;0.036;0.08	T	0.04333	-1.0959	10	0.13108	T	0.6	-12.9763	7.939	0.29946	0.0:0.7453:0.2547:0.0	.	114;85;85	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	T	85;85;114	ENSP00000222308:A85T;ENSP00000441267:A85T;ENSP00000388891:A114T	ENSP00000222308:A85T	A	-	1	0	FKBP8	18513528	0.001000	0.12720	0.015000	0.15790	0.333000	0.28666	0.503000	0.22610	0.813000	0.34350	0.491000	0.48974	GCC		0.692	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181		15	25	0	0	0	1	0	15	25				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	27	0	0	0	1	0	3	27				
MYO19	80179	broad.mit.edu	37	17	34862971	34862971	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:34862971C>T	ENST00000431794.3	-	17	1997	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	492	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGATTGAGGCGGCATTCCTG	0.637																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1474-1476)cGc>cAc		myosin XIX							60.0	60.0	60.0					17																	34862971		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34862971C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1475G>A	17.37:g.34862971C>T	ENSP00000409936:p.Arg492His					MYO19_ENST00000268852.9_Intron	p.R492H	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	17	1997	-		Breast(25;0.00957)|Ovarian(249;0.17)	492			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1475G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.718501	0.89205	.	.	ENSG00000141140	ENST00000415126;ENST00000431794	D	0.95447	-3.71	5.26	4.28	0.50868	Myosin head, motor domain (2);	.	.	.	.	D	0.96898	0.8987	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97140	0.9824	9	0.59425	D	0.04	.	14.635	0.68682	0.0:0.8533:0.1466:0.0	.	492	Q96H55	MYO19_HUMAN	H	227;492	ENSP00000409936:R492H	ENSP00000397134:R227H	R	-	2	0	MYO19	31937084	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	3.455000	0.52993	1.426000	0.47256	0.655000	0.94253	CGC		0.637	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		7	43	0	0	0	1	0	7	43				
AFF4	27125	broad.mit.edu	37	5	132262879	132262879	+	Silent	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:132262879A>G	ENST00000265343.5	-	5	1363	c.984T>C	c.(982-984)ccT>ccC	p.P328P	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P328P	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	328	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAGAGGGGGAGGCCATGAAT	0.333																																					Ovarian(126;889 1733 2942 10745 11605)	ENST00000265343.5																		SEPT8/AFF4(2)	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43						c.(982-984)ccT>ccC		AF4/FMR2 family, member 4							106.0	113.0	110.0					5																	132262879		2203	4300	6503	SO:0001819	synonymous_variant	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132262879A>G	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.984T>C	5.37:g.132262879A>G						AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.P328P	p.P328P	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1363	-		all_cancers(142;0.145)|Breast(839;0.198)	328			Ser-rich.		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	c.984T>C	CCDS4164.1																																																																																				0.333	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423		3	48	0	0	0	1	0	3	48				
GRAP2	9402	broad.mit.edu	37	22	40343126	40343126	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr22:40343126A>G	ENST00000344138.4	+	2	279	c.16A>G	c.(16-18)Aag>Gag	p.K6E	GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E|GRAP2_ENST00000544756.1_5'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	6	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTGTTGCCAAGTTTGATTT	0.527																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(16-18)Aag>Gag		GRB2-related adaptor protein 2							180.0	163.0	169.0					22																	40343126		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40343126A>G	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.16A>G	22.37:g.40343126A>G	ENSP00000339186:p.Lys6Glu					GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E	p.K6E	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			2	279	+			6			SH3 1.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.16A>G	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636094	0.87760	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000420971;ENST00000407075	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.65	5.65	0.86999	Src homology-3 domain (4);	0.044035	0.85682	D	0.000000	T	0.62441	0.2428	L	0.53729	1.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60712	-0.7209	10	0.37606	T	0.19	-41.615	13.4087	0.60929	1.0:0.0:0.0:0.0	.	6;6	Q6FI14;O75791	.;GRAP2_HUMAN	E	6	ENSP00000339186:K6E;ENSP00000446350:K6E;ENSP00000396355:K6E;ENSP00000385607:K6E	ENSP00000339186:K6E	K	+	1	0	GRAP2	38673072	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.800000	0.69108	2.150000	0.67090	0.455000	0.32223	AAG		0.527	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		5	73	0	0	0	1	0	5	73				
PPIP5K1	9677	broad.mit.edu	37	15	43827518	43827518	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr15:43827518C>T	ENST00000396923.3	-	30	3777	c.3656G>A	c.(3655-3657)gGg>gAg	p.G1219E	PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000420765.1_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E			Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1219					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			large_intestine(1)	1						TGCTCCACTCCCAGGGGTCTC	0.527																																						ENST00000420765.1																			0				large_intestine(1)	1						c.(3655-3657)gGg>gAg		diphosphoinositol pentakisphosphate kinase 1							85.0	84.0	85.0					15																	43827518		2201	4298	6499	SO:0001583	missense	9677				inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	g.chr15:43827518C>T	AF502586	CCDS32215.1, CCDS45252.1, CCDS53937.1	15q15.3	2010-01-27	2010-01-26	2010-01-26	ENSG00000168781	ENSG00000168781	2.7.4.24		29023	protein-coding gene	gene with protein product		610979	"""histidine acid phosphatase domain containing 2A"""	HISPPD2A		17412958, 17690096, 18981179	Standard	NM_001190214		Approved	KIAA0377, IPS1, VIP1	uc001zrw.3	Q6PFW1	OTTHUMG00000059758	ENST00000396923.3:c.3656G>A	15.37:g.43827518C>T	ENSP00000380129:p.Gly1219Glu					PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E	p.G1219E	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN			31	3838	-			1219					O15082|Q5HYF8|Q7Z3A7|Q86TE7|Q86UV3|Q86UV4|Q86XW8|Q8IZN0	Missense_Mutation	SNP	ENST00000396923.3	37	c.3656G>A	CCDS45252.1	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005259	0.07866	.	.	ENSG00000168781	ENST00000381885;ENST00000360301;ENST00000360135;ENST00000334933;ENST00000396923;ENST00000304953;ENST00000381878;ENST00000420765;ENST00000381879;ENST00000348806	T;T;T;T;T;T;T;T	0.25250	1.84;2.02;2.47;2.02;1.84;1.84;1.81;2.47	5.65	4.64	0.57946	.	0.287482	0.25645	N	0.029253	T	0.14527	0.0351	N	0.21448	0.665	0.09310	N	1	B;B;B	0.13145	0.007;0.0;0.0	B;B;B	0.14578	0.011;0.001;0.002	T	0.07947	-1.0746	10	0.30854	T	0.27	-3.1822	5.4706	0.16668	0.0:0.81:0.0:0.19	.	1192;1219;1194	Q6PFW1-7;Q6PFW1;Q6PFW1-3	.;VIP1_HUMAN;.	E	1215;1194;1192;1194;1219;1219;1194;1219;1195;1192	ENSP00000371309:G1215E;ENSP00000353446:G1194E;ENSP00000353253:G1192E;ENSP00000334779:G1194E;ENSP00000380129:G1219E;ENSP00000400887:G1219E;ENSP00000371303:G1195E;ENSP00000308773:G1192E	ENSP00000304750:G1219E	G	-	2	0	PPIP5K1	41614810	0.344000	0.24827	0.413000	0.26509	0.161000	0.22273	2.129000	0.42055	2.679000	0.91253	0.655000	0.94253	GGG		0.527	PPIP5K1-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132907.1	NM_014659		32	58	0	0	0	1	0	32	58				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			30	51	0	0	0	1	0	30	51				
SLC45A2	51151	broad.mit.edu	37	5	33951714	33951714	+	Silent	SNP	G	G	A			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:33951714G>A	ENST00000296589.4	-	5	1247	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000382102.3_Silent_p.V367V|SLC45A2_ENST00000345083.5_Silent_p.V259V|SLC45A2_ENST00000509381.1_3'UTR	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	367					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCCAACCTCGACTCCTCTTT	0.453																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1099-1101)gtC>gtT		solute carrier family 45, member 2							171.0	148.0	156.0					5																	33951714		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33951714G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1101C>T	5.37:g.33951714G>A						SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000296589.4_Silent_p.V367V|SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000345083.5_Silent_p.V259V	p.V367V	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			5	1158	-			367					Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1101C>T	CCDS3901.1																																																																																				0.453	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		16	103	0	0	0	1	0	16	103				
TLK1	9874	broad.mit.edu	37	2	171863512	171863512	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:171863512C>G	ENST00000431350.2	-	15	1882	c.1478G>C	c.(1477-1479)tGg>tCg	p.W493S	TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000442919.2_Missense_Mutation_p.W445S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTCATCTCTCCAGCTTTTATT	0.294																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1333-1335)tGg>tCg		tousled-like kinase 1							87.0	82.0	83.0					2																	171863512		2201	4295	6496	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171863512C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1478G>C	2.37:g.171863512C>G	ENSP00000411099:p.Trp493Ser					TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000431350.2_Missense_Mutation_p.W493S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S	p.W445S	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			15	1949	-			493					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1334G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198906	0.79015	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	4.95	4.95	0.65309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	N	0.01454	-0.855	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.992;0.99	T	0.75741	-0.3211	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	397;514;493	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	S	445;493;514;445;397	ENSP00000402165:W445S;ENSP00000411099:W493S;ENSP00000354089:W514S;ENSP00000428113:W445S;ENSP00000409222:W397S	ENSP00000354089:W514S	W	-	2	0	TLK1	171571758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.481000	0.83766	0.454000	0.30748	TGG		0.294	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		16	55	0	0	0	1	0	16	55				
ARID1A	8289	broad.mit.edu	37	1	27101006	27101006	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr1:27101006C>T	ENST00000324856.7	+	18	4659	c.4288C>T	c.(4288-4290)Cag>Tag	p.Q1430*	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1430					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTATACAACCAGTATGGCAA	0.627			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(4288-4290)Cag>Tag		AT rich interactive domain 1A (SWI-like)							69.0	69.0	69.0					1																	27101006		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27101006C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4288C>T	1.37:g.27101006C>T	ENSP00000320485:p.Gln1430*					ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*|ARID1A_ENST00000540690.1_Intron	p.Q1430*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	18	4659	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1430					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.4288C>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.442164|10.442164	0.99406|0.99406	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000374152	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77961|.	0.4209|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77477|.	-0.2573|.	4|.	.|0.52906	.|T	.|0.07	-6.7802|-6.7802	19.6982|19.6982	0.96039|0.96039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	326|1430;1047	.|.	.|ENSP00000320485:Q1430X	P|Q	+|+	2|1	0|0	ARID1A|ARID1A	26973593|26973593	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.236000|7.236000	0.78154|0.78154	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.627	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		9	39	0	0	0	1	0	9	39				
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		22	Substitution - Missense(22)	p.M1043V(22)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Gtg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	49	0	0	0	1	0	6	49				
ARHGAP9	64333	broad.mit.edu	37	12	57867389	57867389	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:57867389C>T	ENST00000356411.2	-	17	2216	c.2078G>A	c.(2077-2079)tGc>tAc	p.C693Y	ARHGAP9_ENST00000393797.2_Missense_Mutation_p.C764Y|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	693	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGACCTGCATAAATGCTC	0.517																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2290-2292)tGc>tAc		Rho GTPase activating protein 9							161.0	140.0	147.0					12																	57867389		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57867389C>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2078G>A	12.37:g.57867389C>T	ENSP00000348782:p.Cys693Tyr					ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000424809.2_Intron|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.C693Y|ARHGAP9_ENST00000550288.1_3'UTR	p.C764Y			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		20	2483	-			693					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.2291G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.40|14.40	2.523516|2.523516	0.44866|0.44866	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T	.|0.17691	.|2.26;2.26;2.26;2.26;2.26	4.0|4.0	4.0|4.0	0.46444|0.46444	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.429079	.|0.23939	.|N	.|0.043071	T|T	0.23330|0.23330	0.0564|0.0564	N|N	0.13168|0.13168	0.305|0.305	0.41578|0.41578	D|D	0.988727|0.988727	.|D;D;B	.|0.76494	.|0.999;0.999;0.067	.|D;D;B	.|0.87578	.|0.998;0.996;0.356	T|T	0.05886|0.05886	-1.0858|-1.0858	5|10	.|0.54805	.|T	.|0.06	.|.	11.8451|11.8451	0.52378|0.52378	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|693;674;490	.|Q9BRR9;Q9BRR9-2;B4DVI3	.|RHG09_HUMAN;.;.	T|Y	99|674;693;299;764;716;490;163	.|ENSP00000377380:C674Y;ENSP00000348782:C693Y;ENSP00000377386:C764Y;ENSP00000397950:C490Y;ENSP00000448423:C163Y	.|ENSP00000344852:C716Y	A|C	-|-	1|2	0|0	ARHGAP9|ARHGAP9	56153656|56153656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.776000|3.776000	0.55356|0.55356	2.247000|2.247000	0.74100|0.74100	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.517	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		11	44	0	0	0	1	0	11	44				
ZNF18	7566	broad.mit.edu	37	17	11881794	11881794	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:11881794G>T	ENST00000322748.3	-	9	1734	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H|ZNF18_ENST00000580306.2_Missense_Mutation_p.P377H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	377					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCCTGAATGAGGATTAGGCAA	0.532																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1129-1131)cCt>cAt		zinc finger protein 18							87.0	94.0	92.0					17																	11881794		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881794G>T	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1130C>A	17.37:g.11881794G>T	ENSP00000315664:p.Pro377His					ZNF18_ENST00000580306.1_Missense_Mutation_p.P377H|ZNF18_ENST00000580613.1_Intron|ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H	p.P377H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	1734	-			377					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.1130C>A	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.672038	0.14776	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.07444	3.19	4.9	2.92	0.33932	.	0.369623	0.23526	N	0.047235	T	0.08133	0.0203	N	0.19112	0.55	0.09310	N	1	D;P	0.54964	0.969;0.948	P;B	0.49528	0.614;0.41	T	0.13980	-1.0489	10	0.66056	D	0.02	-2.9516	8.8319	0.35089	0.1854:0.0:0.8146:0.0	.	376;377	P17022-2;P17022	.;ZNF18_HUMAN	H	377	ENSP00000315664:P377H	ENSP00000315664:P377H	P	-	2	0	ZNF18	11822519	0.314000	0.24563	0.003000	0.11579	0.139000	0.21198	2.729000	0.47327	1.380000	0.46344	-0.262000	0.10625	CCT		0.532	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		32	60	1	0	1.7881e-09	1	1.7881e-09	32	60				
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					ENST00000439326.3																			1	Substitution - Missense(1)	p.F487L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1459-1461)Ttt>Ctt		zinc finger protein 844							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_ENST00000441304.2_3'UTR	p.F487L	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1634	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	72	0	0	0	1	0	3	72				
ADCY9	115	broad.mit.edu	37	16	4016307	4016307	+	Silent	SNP	G	G	A	rs146365616		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:4016307G>A	ENST00000294016.3	-	11	4069	c.3531C>T	c.(3529-3531)atC>atT	p.I1177I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1177	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGTGGTGCCGATGACCCCGG	0.607																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3529-3531)atC>atT		adenylate cyclase 9		G		0,4394		0,0,2197	90.0	80.0	83.0		3531	-5.9	0.9	16	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADCY9	NM_001116.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		1177/1354	4016307	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016307G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3531C>T	16.37:g.4016307G>A							p.I1177I	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			11	4069	-			1177			Guanylate cyclase 2.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.3531C>T	CCDS32382.1																																																																																				0.607	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			12	86	0	0	0	1	0	12	86				
ADAMTS20	80070	broad.mit.edu	37	12	43944836	43944836	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:43944836C>T	ENST00000389420.3	-	2	328	c.329G>A	c.(328-330)gGa>gAa	p.G110E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	110					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCGGGGTTCCCAAGTGCAC	0.657																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(328-330)gGa>gAa		ADAM metallopeptidase with thrombospondin type 1 motif, 20							38.0	40.0	40.0					12																	43944836		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944836C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.329G>A	12.37:g.43944836C>T	ENSP00000374071:p.Gly110Glu					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E	p.G110E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	328	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	110					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.329G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613295	0.87359	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05996	3.36;3.36	4.08	4.08	0.47627	Peptidase M12B, propeptide (1);	0.000000	0.36972	N	0.002320	T	0.25717	0.0626	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02307	-1.1179	10	0.87932	D	0	.	17.1843	0.86862	0.0:1.0:0.0:0.0	.	110	P59510	ATS20_HUMAN	E	110	ENSP00000374071:G110E;ENSP00000448341:G110E	ENSP00000374068:G110E	G	-	2	0	ADAMTS20	42231103	1.000000	0.71417	0.983000	0.44433	0.717000	0.41224	7.135000	0.77276	2.551000	0.86045	0.655000	0.94253	GGA		0.657	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	21	0	0	0	1	0	4	21				
TTI1	9675	broad.mit.edu	37	20	36641143	36641143	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr20:36641143G>A	ENST00000373448.2	-	3	1314	c.1076C>T	c.(1075-1077)gCa>gTa	p.A359V	TTI1_ENST00000449821.1_Missense_Mutation_p.A359V|TTI1_ENST00000373447.3_Missense_Mutation_p.A359V|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	359					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TTTTTGATCTGCAAAATGTCT	0.478																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1075-1077)gCa>gTa		TELO2 interacting protein 1							151.0	154.0	153.0					20																	36641143		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641143G>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1076C>T	20.37:g.36641143G>A	ENSP00000362547:p.Ala359Val					TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.A359V|TTI1_ENST00000373447.3_Missense_Mutation_p.A359V	p.A359V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN			3	1314	-			359					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1076C>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367048	0.61513	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.66995	-0.24;-0.24;-0.24	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.107149	0.64402	D	0.000004	T	0.66197	0.2765	M	0.74881	2.28	0.47407	D	0.999415	P	0.38597	0.639	B	0.36959	0.237	T	0.64939	-0.6289	10	0.30078	T	0.28	0.2745	14.6338	0.68676	0.0:0.2509:0.7491:0.0	.	359	O43156	TTI1_HUMAN	V	359	ENSP00000362547:A359V;ENSP00000362546:A359V;ENSP00000407270:A359V	ENSP00000362546:A359V	A	-	2	0	TTI1	36074557	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	3.280000	0.51677	2.937000	0.99478	0.650000	0.86243	GCA		0.478	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		4	142	0	0	0	1	0	4	142				
ITGB3	3690	broad.mit.edu	37	17	45377877	45377877	+	Silent	SNP	A	A	G			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:45377877A>G	ENST00000559488.1	+	12	1963	c.1947A>G	c.(1945-1947)ggA>ggG	p.G649G	RP11-290H9.4_ENST00000575039.1_RNA|RP11-290H9.4_ENST00000576345.1_RNA|ITGB3_ENST00000435993.2_Silent_p.G602G|ITGB3_ENST00000560629.1_Missense_Mutation_p.S638G	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	649				GALHD -> EPYMT (in Ref. 1; AAA52589, 2; AAA60122 and 4; AAB71380). {ECO:0000305}.	activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	TTGACCGGGGAGCCCTACATG	0.483																																						ENST00000560629.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1912-1914)Agc>Ggc		integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	Abciximab(DB00054)|Tirofiban(DB00775)						146.0	119.0	129.0					17																	45377877		2203	4300	6503	SO:0001819	synonymous_variant	3690				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr17:45377877A>G		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1947A>G	17.37:g.45377877A>G						ITGB3_ENST00000559488.1_Silent_p.G649G|ITGB3_ENST00000435993.2_Silent_p.G602G	p.S638G			P05106	ITB3_HUMAN			12	1912	+			0					A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	c.1912A>G	CCDS11511.1																																																																																				0.483	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212		3	39	0	0	0	1	0	3	39				
ZNF577	84765	broad.mit.edu	37	19	52375975	52375975	+	Missense_Mutation	SNP	G	G	A	rs376895478		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:52375975G>A	ENST00000301399.5	-	7	1633	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	ZNF577_ENST00000420592.1_Missense_Mutation_p.P364L|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000485702.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	423					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P416Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TAACAATGGCGGGGTTCCTGA	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19185	0.0		0.0	False		,,,				2504	0.0					ENST00000420592.1																			1	Substitution - Missense(1)	p.P416Q(1)	lung(1)	breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1090-1092)cCg>cTg		zinc finger protein 577		G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	67.0	67.0	67.0		1091,1268	-2.8	0.0	19		67	2,8598		1,0,4299	no	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	98,98	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	364/427,423/486	52375975	2,13004	2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52375975G>A	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.1268C>T	19.37:g.52375975G>A	ENSP00000301399:p.Pro423Leu					ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.P423L	p.P364L			Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	2424	-		all_neural(266;0.0602)	423					A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.1091C>T	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	5.292	0.239232	0.10023	0.0	2.33E-4	ENSG00000161551	ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T	0.06294	3.32;3.4;3.4;3.34	2.51	-2.77	0.05877	.	.	.	.	.	T	0.03783	0.0107	N	0.22421	0.69	0.09310	N	1	B;B	0.16166	0.009;0.016	B;B	0.09377	0.002;0.004	T	0.42498	-0.9448	9	0.31617	T	0.26	.	5.4954	0.16799	0.0:0.2369:0.5182:0.2449	.	423;364	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	L	423;364;364;423	ENSP00000301399:P423L;ENSP00000413476:P364L;ENSP00000389652:P364L;ENSP00000404509:P423L	ENSP00000301399:P423L	P	-	2	0	ZNF577	57067787	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.638000	0.05452	-0.832000	0.04251	-1.028000	0.02416	CCG		0.428	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		5	53	0	0	0	1	0	5	53				
AARS	16	broad.mit.edu	37	16	70295033	70295033	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:70295033G>C	ENST00000261772.8	-	13	1842	c.1699C>G	c.(1699-1701)Cag>Gag	p.Q567E	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		CCTCGGACCTGAGCATTCTTC	0.398																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(1699-1701)Cag>Gag		alanyl-tRNA synthetase	L-Alanine(DB00160)						126.0	112.0	117.0					16																	70295033		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70295033G>C	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1699C>G	16.37:g.70295033G>C	ENSP00000261772:p.Gln567Glu					AARS_ENST00000564359.1_5'UTR	p.Q567E	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	13	1842	-		Ovarian(137;0.0365)	567						Missense_Mutation	SNP	ENST00000261772.8	37	c.1699C>G	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245266	0.95272	.	.	ENSG00000090861	ENST00000261772	T	0.73258	-0.73	5.94	5.94	0.96194	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.055566	0.85682	D	0.000000	D	0.87051	0.6081	M	0.90595	3.13	0.80722	D	1	D;D	0.65815	0.995;0.99	D;D	0.68483	0.958;0.958	D	0.88865	0.3329	10	0.87932	D	0	-23.4379	17.8614	0.88783	0.0:0.0:1.0:0.0	.	575;567	E7ETK8;P49588	.;SYAC_HUMAN	E	567	ENSP00000261772:Q567E	ENSP00000261772:Q567E	Q	-	1	0	AARS	68852534	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	7.943000	0.87716	2.823000	0.97156	0.637000	0.83480	CAG		0.398	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		19	39	0	0	0	1	0	19	39				
NRDE2	55051	broad.mit.edu	37	14	90784399	90784399	+	Silent	SNP	T	T	C			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr14:90784399T>C	ENST00000354366.3	-	2	355	c.123A>G	c.(121-123)caA>caG	p.Q41Q	NRDE2_ENST00000557106.1_5'UTR|NRDE2_ENST00000357904.3_Intron	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	41																	CTTCAGTTTGTTGGCTCAGGG	0.428																																						ENST00000354366.3																			0											c.(121-123)caA>caG		NRDE-2, necessary for RNA interference, domain containing							151.0	140.0	144.0					14																	90784399		2203	4300	6503	SO:0001819	synonymous_variant	55051							g.chr14:90784399T>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.123A>G	14.37:g.90784399T>C						NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	p.Q41Q	NM_017970.3	NP_060440.2					2	355	-								B4DH71|Q4G0A7|Q9NWH6	Silent	SNP	ENST00000354366.3	37	c.123A>G	CCDS9890.1																																																																																				0.428	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		47	94	0	0	0	1	0	47	94				
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		4	3						4	3	---	---	---	---
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438																																						ENST00000424306.1																			0																																																			0							g.chrX:136030245delT																													X.37:g.136030245delT														0	2052	+									RNA	DEL	ENST00000424306.1	37																																																																																						0.438	RP11-308D16.4-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000058514.2			3	5						3	5	---	---	---	---
