#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
FREM1	158326	broad.mit.edu	37	9	14746437	14746437	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:14746437C>T	ENST00000380880.3	-	35	6951	c.6168G>A	c.(6166-6168)ggG>ggA	p.G2056G	FREM1_ENST00000380881.4_Silent_p.G2057G|FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000422223.2_Silent_p.G2056G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2056					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGTGCCACCCGGCTGGAC	0.493																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(6169-6171)ggG>ggA		FRAS1 related extracellular matrix 1							131.0	134.0	133.0					9																	14746437		1987	4159	6146	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14746437C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6168G>A	9.37:g.14746437C>T						FREM1_ENST00000422223.2_Silent_p.G2056G|FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000380880.3_Silent_p.G2056G	p.G2057G			Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	36	6986	-			2056					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.6171G>A	CCDS47952.1																																																																																				0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		15	42	0	0	0	1	0	15	42				
DCK	1633	broad.mit.edu	37	4	71889297	71889297	+	Missense_Mutation	SNP	G	G	T	rs372497422		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:71889297G>T	ENST00000286648.5	+	4	820	c.423G>T	c.(421-423)ttG>ttT	p.L141F	DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	141					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CATCTAATTTGTATGAATCTG	0.328																																						ENST00000286648.5																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(421-423)ttG>ttT		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	G	PHE/LEU	0,4406		0,0,2203	77.0	80.0	79.0		423	3.1	1.0	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCK	NM_000788.2	22	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	141/261	71889297	1,13005	2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71889297G>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.423G>T	4.37:g.71889297G>T	ENSP00000286648:p.Leu141Phe					DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	Lung(101;0.235)		4	820	+			141					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.423G>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676017	0.67928	0.0	1.16E-4	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.98345	-4.88;-4.88;-4.88	5.87	3.08	0.35506	.	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	M	0.85945	2.785	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99136	1.0854	10	0.87932	D	0	.	10.5072	0.44841	0.3041:0.0:0.6959:0.0	.	141	P27707	DCK_HUMAN	F	141	ENSP00000286648:L141F;ENSP00000425578:L141F;ENSP00000421508:L141F	ENSP00000286648:L141F	L	+	3	2	DCK	72108161	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.076000	0.14712	0.869000	0.35703	0.655000	0.94253	TTG		0.328	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			22	34	1	0	6.21321e-17	1	6.77805e-17	22	34				
USP9X	8239	broad.mit.edu	37	X	41057976	41057976	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:41057976A>G	ENST00000324545.8	+	30	5209	c.4576A>G	c.(4576-4578)Atg>Gtg	p.M1526V	USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1526					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTGACTGAAATGTATTACAT	0.318																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4576-4578)Atg>Gtg		ubiquitin specific peptidase 9, X-linked							50.0	47.0	48.0					X																	41057976		2168	4285	6453	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41057976A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.4576A>G	X.37:g.41057976A>G	ENSP00000316357:p.Met1526Val					USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			30	5209	+			1526					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.4576A>G	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	16.26	3.072947	0.55646	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03496	3.91;3.91	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	M	0.74258	2.255	0.58432	D	0.999997	B;B	0.32188	0.359;0.154	B;B	0.36845	0.234;0.08	T	0.04930	-1.0917	10	0.45353	T	0.12	.	13.6598	0.62361	1.0:0.0:0.0:0.0	.	1526;1526	Q93008-1;Q93008	.;USP9X_HUMAN	V	1526	ENSP00000367558:M1526V;ENSP00000316357:M1526V	ENSP00000316357:M1526V	M	+	1	0	USP9X	40942920	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.957000	0.93082	1.669000	0.50854	0.441000	0.28932	ATG		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		8	13	0	0	0	1	0	8	13				
GUCY1A2	2977	broad.mit.edu	37	11	106647281	106647281	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:106647281C>A	ENST00000526355.2	-	6	2188	c.1720G>T	c.(1720-1722)Gtt>Ttt	p.V574F	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	574	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCTGCTGCAACACAGTAGGCA	0.443																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(1720-1722)Gtt>Ttt		guanylate cyclase 1, soluble, alpha 2							111.0	106.0	107.0					11																	106647281		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106647281C>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1720G>T	11.37:g.106647281C>A	ENSP00000431245:p.Val574Phe					GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F	p.V574F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	6	2188	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	574			Guanylate cyclase.		A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.1720G>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958830	0.92726	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.86097	-2.07;-1.66;-2.07	5.7	5.7	0.88788	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.39146	U	0.001457	D	0.95404	0.8508	H	0.97186	3.955	0.80722	D	1	D;P;D	0.89917	0.996;0.907;1.0	D;P;D	0.91635	0.92;0.607;0.999	D	0.96579	0.9429	10	0.87932	D	0	.	18.8232	0.92106	0.0:1.0:0.0:0.0	.	595;574;574	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	574;574;595	ENSP00000431245:V574F;ENSP00000282249:V574F;ENSP00000344874:V595F	ENSP00000282249:V574F	V	-	1	0	GUCY1A2	106152491	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	7.487000	0.81328	2.693000	0.91896	0.650000	0.86243	GTT		0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	31	1	0	1	1	1	4	31				
MYH4	4622	broad.mit.edu	37	17	10348674	10348674	+	Silent	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:10348674G>C	ENST00000255381.2	-	36	5285	c.5175C>G	c.(5173-5175)acC>acG	p.T1725T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1725					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGGCTGGTGTTCTGTT	0.418																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5173-5175)acC>acG		myosin, heavy chain 4, skeletal muscle							167.0	143.0	151.0					17																	10348674		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348674G>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5175C>G	17.37:g.10348674G>C						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T1725T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			36	5285	-			1725						Silent	SNP	ENST00000255381.2	37	c.5175C>G	CCDS11154.1																																																																																				0.418	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		23	84	0	0	0	1	0	23	84				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	71	0	0	0	1	0	5	71				
GNL3L	54552	broad.mit.edu	37	X	54570718	54570718	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:54570718G>A	ENST00000336470.4	+	8	728	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	197	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTTGCCAACCGTGGCTTTCAA	0.547																																						ENST00000336470.4																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						c.(589-591)Gtg>Atg		guanine nucleotide binding protein-like 3 (nucleolar)-like							84.0	62.0	69.0					X																	54570718		2202	4300	6502	SO:0001583	missense	54552				ribosome biogenesis	nucleolus	GTP binding	g.chrX:54570718G>A	AK001475	CCDS14360.1	Xp11.22	2010-03-17			ENSG00000130119	ENSG00000130119			25553	protein-coding gene	gene with protein product		300873				12477932	Standard	NM_019067		Approved	FLJ10613	uc004dth.2	Q9NVN8	OTTHUMG00000021629	ENST00000336470.4:c.589G>A	X.37:g.54570718G>A	ENSP00000338573:p.Val197Met					GNL3L_ENST00000489691.1_3'UTR|GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M	p.V197M	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN			8	728	+			197						Missense_Mutation	SNP	ENST00000336470.4	37	c.589G>A	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	g	19.60	3.857758	0.71834	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.15487	2.42;2.42	4.5	3.62	0.41486	.	0.061596	0.64402	D	0.000004	T	0.22704	0.0548	M	0.70275	2.135	0.58432	D	0.999993	D	0.53312	0.959	P	0.45276	0.475	T	0.03555	-1.1025	10	0.59425	D	0.04	-14.9891	10.5343	0.44994	0.1028:0.0:0.8972:0.0	.	197	Q9NVN8	GNL3L_HUMAN	M	197	ENSP00000338573:V197M;ENSP00000354091:V197M	ENSP00000338573:V197M	V	+	1	0	GNL3L	54587443	1.000000	0.71417	0.921000	0.36526	0.787000	0.44495	7.182000	0.77689	2.164000	0.68074	0.597000	0.82753	GTG		0.547	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067		12	10	0	0	0	1	0	12	10				
SVIL	6840	broad.mit.edu	37	10	29839796	29839796	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:29839796G>A	ENST00000355867.4	-	6	1309	c.557C>T	c.(556-558)gCc>gTc	p.A186V	SVIL_ENST00000375400.3_Missense_Mutation_p.A186V|SVIL_ENST00000375398.2_Missense_Mutation_p.A186V	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	186					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACATGGAGGGCATAGTCCTT	0.577																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(556-558)gCc>gTc		supervillin							93.0	94.0	93.0					10																	29839796		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29839796G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.557C>T	10.37:g.29839796G>A	ENSP00000348128:p.Ala186Val					SVIL_ENST00000355867.4_Missense_Mutation_p.A186V|SVIL_ENST00000375400.3_Missense_Mutation_p.A186V	p.A186V			O95425	SVIL_HUMAN			8	1006	-		Breast(68;0.103)	186					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.557C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788195	0.31593	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.44881	0.91;0.91;0.91	4.67	1.66	0.24008	.	0.923476	0.09346	N	0.814890	T	0.38081	0.1027	L	0.56769	1.78	0.18873	N	0.999988	B;B	0.34181	0.178;0.44	B;B	0.31101	0.124;0.118	T	0.15665	-1.0429	9	.	.	.	-1.3242	10.7337	0.46111	0.0:0.405:0.4557:0.1394	.	186;186	O95425-2;O95425	.;SVIL_HUMAN	V	186	ENSP00000364549:A186V;ENSP00000364547:A186V;ENSP00000348128:A186V	.	A	-	2	0	SVIL	29879802	0.000000	0.05858	0.007000	0.13788	0.498000	0.33706	-0.157000	0.10085	0.049000	0.15920	-0.282000	0.10007	GCC		0.577	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	87	0	0	0	1	0	4	87				
KIAA0232	9778	broad.mit.edu	37	4	6862653	6862653	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:6862653T>C	ENST00000307659.5	+	7	999	c.544T>C	c.(544-546)Tct>Cct	p.S182P	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	182							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCCACCACTTTCTGAGAAACC	0.398																																						ENST00000307659.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(544-546)Tct>Cct		KIAA0232							138.0	135.0	136.0					4																	6862653		1921	4139	6060	SO:0001583	missense	9778						ATP binding	g.chr4:6862653T>C	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.544T>C	4.37:g.6862653T>C	ENSP00000303928:p.Ser182Pro					KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN			7	999	+			182					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.544T>C	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.966034	0.92855	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73000	-0.4120	9	0.87932	D	0	-17.5517	15.6476	0.77068	0.0:0.0:0.0:1.0	.	182	Q92628	K0232_HUMAN	P	182	.	ENSP00000303928:S182P	S	+	1	0	KIAA0232	6913554	1.000000	0.71417	0.986000	0.45419	0.980000	0.70556	7.654000	0.83653	2.103000	0.63969	0.533000	0.62120	TCT		0.398	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		44	58	0	0	0	1	0	44	58				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	17	0	0	0	1	0	5	17				
KIR3DL1	3811	broad.mit.edu	37	19	55284915	55284915	+	Intron	SNP	C	C	T	rs144426670	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55284915C>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.N67N			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517																																						ENST00000336077.6																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						c.(199-201)aaC>aaT		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1		C		1,4347		0,1,2173	97.0	85.0	89.0		201	-2.5	0.0	19	dbSNP_134	89	1,8377		0,1,4188	no	coding-synonymous	KIR2DL1	NM_014218.2		0,2,6361	TT,TC,CC		0.0119,0.023,0.0157		67/349	55284915	2,12724	2174	4189	6363	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284915C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44074C>T	19.37:g.55284915C>T						KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron	p.N67N	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	241	+			67			Ig-like C2-type 1.		O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.201C>T																																																																																					0.517	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		5	130	0	0	0	1	0	5	130				
SNAPC3	6619	broad.mit.edu	37	9	15459757	15459757	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:15459757T>C	ENST00000380821.3	+	9	1305	c.1129T>C	c.(1129-1131)Tgc>Cgc	p.C377R		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	377					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AGAGGACCCATGCTTCTTTTG	0.393																																						ENST00000380821.3																			0				breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12						c.(1129-1131)Tgc>Cgc		small nuclear RNA activating complex, polypeptide 3, 50kDa							159.0	147.0	151.0					9																	15459757		2203	4300	6503	SO:0001583	missense	6619				regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding	g.chr9:15459757T>C	U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.1129T>C	9.37:g.15459757T>C	ENSP00000370200:p.Cys377Arg						p.C377R	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN		GBM - Glioblastoma multiforme(50;2.15e-06)	9	1305	+			377					D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	c.1129T>C	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.414352	0.83449	.	.	ENSG00000164975	ENST00000380821	T	0.46819	0.86	5.86	5.86	0.93980	.	0.041867	0.85682	D	0.000000	T	0.70798	0.3265	M	0.83223	2.63	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.75263	-0.3379	10	0.72032	D	0.01	-19.4393	16.2215	0.82262	0.0:0.0:0.0:1.0	.	377	Q92966	SNPC3_HUMAN	R	377	ENSP00000370200:C377R	ENSP00000370200:C377R	C	+	1	0	SNAPC3	15449757	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.907000	0.87430	2.367000	0.80283	0.528000	0.53228	TGC		0.393	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697		19	50	0	0	0	1	0	19	50				
PTPRM	5797	broad.mit.edu	37	18	7888149	7888149	+	Missense_Mutation	SNP	G	G	C	rs139956933		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:7888149G>C	ENST00000332175.8	+	3	1279	c.242G>C	c.(241-243)aGa>aCa	p.R81T	PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	81	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGGGGCAGAGAGCCCACCTG	0.463																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(241-243)aGa>aCa		protein tyrosine phosphatase, receptor type, M							172.0	178.0	176.0					18																	7888149		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888149G>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.242G>C	18.37:g.7888149G>C	ENSP00000331418:p.Arg81Thr					PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T	p.R81T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			3	1279	+		Colorectal(10;0.234)	81			MAM.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.242G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574379	0.45902	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02015	4.5;4.5;4.5	5.73	3.93	0.45458	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.293935	0.36815	N	0.002386	T	0.02047	0.0064	N	0.21324	0.655	0.80722	D	1	B;B	0.23377	0.084;0.084	B;B	0.26310	0.068;0.068	T	0.54682	-0.8257	10	0.66056	D	0.02	.	6.6443	0.22927	0.0746:0.1291:0.6628:0.1334	.	81;81	A7MBN1;P28827	.;PTPRM_HUMAN	T	81;81;19	ENSP00000331418:R81T;ENSP00000382933:R81T;ENSP00000382927:R19T	ENSP00000331418:R81T	R	+	2	0	PTPRM	7878149	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.283000	0.43470	0.763000	0.33175	0.655000	0.94253	AGA		0.463	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			21	92	0	0	0	1	0	21	92				
AGT	183	broad.mit.edu	37	1	230845898	230845898	+	Silent	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:230845898C>A	ENST00000366667.4	-	2	913	c.699G>T	c.(697-699)gtG>gtT	p.V233V	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	233					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GTGGGAGGACCACAGGGGTAT	0.602																																						ENST00000366667.4																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25						c.(697-699)gtG>gtT		angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						74.0	75.0	74.0					1																	230845898		2203	4300	6503	SO:0001819	synonymous_variant	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230845898C>A	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.699G>T	1.37:g.230845898C>A							p.V233V	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	2	913	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	233					Q16358|Q16359|Q96F91	Silent	SNP	ENST00000366667.4	37	c.699G>T	CCDS1585.1																																																																																				0.602	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		9	62	1	0	1.33987e-11	1	1.43558e-11	9	62				
ENGASE	64772	broad.mit.edu	37	17	77082120	77082120	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:77082120G>T	ENST00000579016.1	+	14	1921	c.1921G>T	c.(1921-1923)Gct>Tct	p.A641S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	641						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGGGCCCCCTGCTCTGCTCCA	0.657																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1921-1923)Gct>Tct		endo-beta-N-acetylglucosaminidase							39.0	47.0	44.0					17																	77082120		2144	4250	6394	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77082120G>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1921G>T	17.37:g.77082120G>T	ENSP00000462333:p.Ala641Ser						p.A641S	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			14	1921	+			641					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.1921G>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	8.373	0.835708	0.16820	.	.	ENSG00000167280	ENST00000545583	.	.	.	4.5	-3.08	0.05347	.	1.568200	0.03511	N	0.219604	T	0.40322	0.1112	L	0.57536	1.79	0.09310	N	1	B	0.18863	0.031	B	0.13407	0.009	T	0.18999	-1.0319	9	0.34782	T	0.22	-0.148	4.3784	0.11281	0.3636:0.0:0.4137:0.2226	.	641	Q8NFI3	ENASE_HUMAN	S	641	.	ENSP00000438577:A641S	A	+	1	0	ENGASE	74593715	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.078000	0.11375	-0.417000	0.07461	-1.713000	0.00713	GCT		0.657	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		11	39	1	0	1.58986e-06	1	1.64469e-06	11	39				
PPFIBP2	8495	broad.mit.edu	37	11	7662771	7662771	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:7662771G>A	ENST00000299492.4	+	16	1825	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	PPFIBP2_ENST00000528883.1_Silent_p.S367S|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Silent_p.S321S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	479					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACATCATCGGGCACTGAAT	0.483																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1435-1437)tcG>tcA		PTPRF interacting protein, binding protein 2 (liprin beta 2)							162.0	136.0	145.0					11																	7662771		2201	4296	6497	SO:0001819	synonymous_variant	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7662771G>A	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1437G>A	11.37:g.7662771G>A						PPFIBP2_ENST00000533792.1_Silent_p.S321S|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000528883.1_Silent_p.S367S	p.S479S	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	16	1825	+			479					B7Z433|E9PK77|O75337|Q8WW26	Silent	SNP	ENST00000299492.4	37	c.1437G>A	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213182	0.22289	.	.	ENSG00000166387	ENST00000534409	.	.	.	6.03	-11.7	0.00046	.	.	.	.	.	T	0.45337	0.1337	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58691	-0.7592	4	.	.	.	-3.0686	9.4177	0.38532	0.062:0.1388:0.1044:0.6948	.	.	.	.	R	170	.	.	G	+	1	0	PPFIBP2	7619347	0.003000	0.15002	0.701000	0.30321	0.890000	0.51754	-1.477000	0.02331	-1.309000	0.02315	-0.274000	0.10170	GGG		0.483	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		3	54	0	0	0	1	0	3	54				
GABRA2	2555	broad.mit.edu	37	4	46388112	46388112	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:46388112G>C	ENST00000510861.1	-	3	339	c.166C>G	c.(166-168)Cgg>Ggg	p.R56G	GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000507460.1_Missense_Mutation_p.R56G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	56					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GGTCTAAGCCGATTATCGTAA	0.353																																						ENST00000507460.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(166-168)Cgg>Ggg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						83.0	78.0	80.0					4																	46388112		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46388112G>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.166C>G	4.37:g.46388112G>C	ENSP00000421828:p.Arg56Gly					GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000510861.1_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR	p.R56G			P47869	GBRA2_HUMAN			3	498	-			56					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.166C>G	CCDS3471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.349059|4.349059	0.82132|0.82132	.|.	.|.	ENSG00000151834|ENSG00000151834	ENST00000540012|ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T|T;T;T;T;T;T;T;T	0.78816|0.80214	-1.21|-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.01|5.01	5.01|5.01	0.66863|0.66863	.|Neurotransmitter-gated ion-channel ligand-binding (3);	.|0.062809	.|0.64402	.|D	.|0.000004	D|D	0.91543|0.91543	0.7329|0.7329	M|M	0.90309|0.90309	3.105|3.105	0.22737|0.22737	N|N	0.998795|0.998795	P|D;D;D	0.35192|0.89917	0.489|1.0;0.99;0.984	B|D;D;D	0.30646|0.87578	0.118|0.998;0.922;0.939	D|D	0.85636|0.85636	0.1273|0.1273	9|10	0.87932|0.87932	D|D	0|0	.|.	17.4821|17.4821	0.87675|0.87675	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23|56;56;56	B7Z1H8|D6RAA9;G5E9Z6;P47869	.|.;.;GBRA2_HUMAN	M|G	23|56	ENSP00000444409:I23M|ENSP00000421828:R56G;ENSP00000421300:R56G;ENSP00000371033:R56G;ENSP00000348897:R56G;ENSP00000427603:R56G;ENSP00000423840:R56G;ENSP00000424362:R56G;ENSP00000424093:R56G	ENSP00000444409:I23M|ENSP00000348897:R56G	I|R	-|-	3|1	3|2	GABRA2|GABRA2	46082869|46082869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.680000|5.680000	0.68168|0.68168	2.598000|2.598000	0.87819|0.87819	0.585000|0.585000	0.79938|0.79938	ATC|CGG		0.353	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			8	31	0	0	0	1	0	8	31				
GLRB	2743	broad.mit.edu	37	4	158059959	158059959	+	Splice_Site	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:158059959A>G	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	TTTTGTTTATAGTTGGTTACA	0.259																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.e7-1		glycine receptor, beta	Glycine(DB00145)						54.0	58.0	57.0					4																	158059959		2202	4294	6496	SO:0001630	splice_region_variant	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158059959A>G	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.611-1A>G	4.37:g.158059959A>G						GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site|GLRB_ENST00000509282.1_Splice_Site		NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	7	880	+	all_hematologic(180;0.24)	Renal(120;0.0458)						A8K3K2|D3DP23|F5GWE1	Splice_Site	SNP	ENST00000264428.4	37		CCDS3796.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.879411	0.51801	.	.	ENSG00000109738	ENST00000264428;ENST00000541722;ENST00000509282	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5984	0.76606	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GLRB	158279409	1.000000	0.71417	0.984000	0.44739	0.513000	0.34164	9.246000	0.95438	2.090000	0.63153	0.528000	0.53228	.		0.259	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824	Intron	39	46	0	0	0	1	0	39	46				
FAM19A4	151647	broad.mit.edu	37	3	68788283	68788283	+	Silent	SNP	C	C	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:68788283C>G	ENST00000295569.7	-	5	846	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	118						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AATCTGGCAGCACTTTACAAT	0.393																																						ENST00000295569.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10						c.(352-354)gtG>gtC		family with sequence similarity 19 (chemokine (C-C motif)-like), member A4							207.0	179.0	188.0					3																	68788283		2203	4300	6503	SO:0001819	synonymous_variant	151647					extracellular region		g.chr3:68788283C>G	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.354G>C	3.37:g.68788283C>G							p.V118V	NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	5	846	-		Lung NSC(201;0.0198)	118					A8MVT2	Silent	SNP	ENST00000295569.7	37	c.354G>C	CCDS2907.1																																																																																				0.393	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1	NM_182522		55	79	0	0	0	1	0	55	79				
CD46	4179	broad.mit.edu	37	1	207930905	207930905	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:207930905C>T	ENST00000358170.2	+	3	463	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000361067.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	103	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCCATATATACGGGATCCTTT	0.363																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19	GRCh37	CM050660	CD46	M		c.(307-309)Cgg>Tgg		CD46 molecule, complement regulatory protein							44.0	42.0	43.0					1																	207930905		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930905C>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.307C>T	1.37:g.207930905C>T	ENSP00000350893:p.Arg103Trp					CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000361067.1_Missense_Mutation_p.R103W	p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			3	463	+			103			Sushi 2.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.307C>T	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966555	0.34659	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	4.01	-2.16	0.07080	Complement control module (2);Sushi/SCR/CCP (3);	5.176000	0.00465	N	0.000109	T	0.74733	0.3755	M	0.64997	1.995	0.09310	N	1	P;D;D;D;P;D;P;D;P;D;D;P;D;D	0.71674	0.76;0.964;0.989;0.977;0.862;0.987;0.76;0.989;0.76;0.996;0.99;0.953;0.998;0.962	B;B;P;P;B;P;P;P;B;P;P;B;P;P	0.59761	0.445;0.403;0.663;0.608;0.312;0.454;0.608;0.54;0.445;0.601;0.863;0.431;0.83;0.589	T	0.61496	-0.7051	10	0.72032	D	0.01	.	5.8533	0.18707	0.3319:0.1978:0.4703:0.0	.	103;103;103;103;103;103;103;103;103;103;103;103;103;103	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	W	103;103;103;103;103;103;103;40;103;103;103;103	ENSP00000350893:R103W;ENSP00000346912:R103W;ENSP00000314664:R103W;ENSP00000356009:R103W;ENSP00000356008:R103W;ENSP00000350346:R103W;ENSP00000313875:R103W;ENSP00000356014:R40W;ENSP00000413543:R103W;ENSP00000354358:R103W;ENSP00000353342:R103W;ENSP00000418471:R103W	ENSP00000313875:R103W	R	+	1	2	CD46	205997528	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.903000	0.01594	-0.518000	0.06452	-1.520000	0.00934	CGG		0.363	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		6	32	0	0	0	1	0	6	32				
IGKV1-6	28943	broad.mit.edu	37	2	89265927	89265927	+	RNA	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:89265927G>A	ENST00000464162.1	-	0	233									immunoglobulin kappa variable 1-6																		GCATAGATCAGGAGCTTAGGG	0.517																																						ENST00000464162.1																			0																				155.0	146.0	149.0					2																	89265927		1875	4085	5960			0							g.chr2:89265927G>A	M64858		2p11.2	2012-02-10			ENSG00000239855	ENSG00000239855		"""Immunoglobulins / IGK locus"""	5742	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151559		2.37:g.89265927G>A														0	233	-									RNA	SNP	ENST00000464162.1	37																																																																																						0.517	IGKV1-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323134.2	NG_000834		9	202	0	0	0	1	0	9	202				
CHRNA1	1134	broad.mit.edu	37	2	175619022	175619022	+	Silent	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:175619022A>G	ENST00000261007.5	-	6	606	c.540T>C	c.(538-540)ttT>ttC	p.F180F	CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Silent_p.F155F|CHRNA1_ENST00000409323.1_Silent_p.F155F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Silent_p.F155F	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	180					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CATCAAAGGGAAAGTGGGTGA	0.522																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(463-465)ttT>ttC		cholinergic receptor, nicotinic, alpha 1 (muscle)							163.0	142.0	149.0					2																	175619022		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175619022A>G	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.540T>C	2.37:g.175619022A>G						CHRNA1_ENST00000261007.5_Silent_p.F180F|CHRNA1_ENST00000409219.1_Silent_p.F155F|CHRNA1_ENST00000409323.1_Silent_p.F155F|CHRNA1_ENST00000409542.1_Intron|AC018890.6_ENST00000442996.1_RNA	p.F155F	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			5	542	-			180					B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.465T>C	CCDS33331.1																																																																																				0.522	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			19	24	0	0	0	1	0	19	24				
FAH	2184	broad.mit.edu	37	15	80465431	80465431	+	Missense_Mutation	SNP	C	C	T	rs80338898		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:80465431C>T	ENST00000407106.1	+	10	937	c.782C>T	c.(781-783)cCg>cTg	p.P261L	FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000539156.1_Missense_Mutation_p.P191L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261			P -> L (in TYRSN1). {ECO:0000269|PubMed:9633815}.		arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTGTCTCTCCGTGGGTGGTG	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000539156.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	GRCh37	CM980725	FAH	M	rs80338898	c.(571-573)cCg>cTg		fumarylacetoacetate hydrolase (fumarylacetoacetase)		C	LEU/PRO	0,4406		0,0,2203	201.0	167.0	178.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	782	4.6	0.5	15	dbSNP_131	178	1,8599		0,1,4299	no	missense	FAH	NM_000137.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	261/420	80465431	1,13005	2203	4300	6503	SO:0001583	missense	2184	Tyrosinemia, type 1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80465431C>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.782C>T	15.37:g.80465431C>T	ENSP00000385080:p.Pro261Leu		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1198	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000407106.1_Missense_Mutation_p.P261L	p.P191L			P16930	FAAA_HUMAN			8	2810	+			261					B2R9X1|D3DW95|Q53XA7	Missense_Mutation	SNP	ENST00000407106.1	37	c.572C>T	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564425	0.65651	0.0	1.16E-4	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	D;D;D	0.99282	-5.68;-5.68;-5.68	4.58	4.58	0.56647	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96923	0.9675	10	0.87932	D	0	-17.0625	16.1256	0.81392	0.0:1.0:0.0:0.0	.	261	P16930	FAAA_HUMAN	L	261;261;191	ENSP00000385080:P261L;ENSP00000261755:P261L;ENSP00000454271:P191L	ENSP00000261755:P261L	P	+	2	0	FAH	78252486	1.000000	0.71417	0.522000	0.27862	0.332000	0.28634	6.868000	0.75516	2.082000	0.62665	0.563000	0.77884	CCG		0.577	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2			4	52	0	0	0	1	0	4	52				
MC5R	4161	broad.mit.edu	37	18	13825781	13825781	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:13825781A>G	ENST00000324750.3	+	1	239	c.17A>G	c.(16-18)cAc>cGc	p.H6R	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	6					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCATTTCACCTGCATTTC	0.418																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(16-18)cAc>cGc		melanocortin 5 receptor							89.0	86.0	87.0					18																	13825781		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13825781A>G	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.17A>G	18.37:g.13825781A>G	ENSP00000318077:p.His6Arg						p.H6R	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	239	+			6					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.17A>G	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	A	0.376	-0.931222	0.02359	.	.	ENSG00000176136	ENST00000324750	T	0.36878	1.23	5.39	-5.02	0.02982	.	1.819620	0.02345	N	0.075299	T	0.15262	0.0368	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	T	0.10870	-1.0611	10	0.18710	T	0.47	.	2.7843	0.05369	0.416:0.2995:0.0673:0.2172	.	6	P33032	MC5R_HUMAN	R	6	ENSP00000318077:H6R	ENSP00000318077:H6R	H	+	2	0	MC5R	13815781	0.110000	0.22057	0.002000	0.10522	0.240000	0.25518	2.295000	0.43576	-0.293000	0.08986	-0.714000	0.03626	CAC		0.418	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		11	59	0	0	0	1	0	11	59				
ANGPT1	284	broad.mit.edu	37	8	108334251	108334251	+	Silent	SNP	T	T	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr8:108334251T>G	ENST00000520734.1	-	3	366	c.81A>C	c.(79-81)acA>acC	p.T27T	ANGPT1_ENST00000518386.1_5'Flank|ANGPT1_ENST00000520052.1_Silent_p.T27T			Q15389	ANGP1_HUMAN	angiopoietin 1	227					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGATTATATATGTTTGACGAG	0.418																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(79-81)acA>acC		angiopoietin 1							199.0	182.0	188.0					8																	108334251		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108334251T>G	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.81A>C	8.37:g.108334251T>G						ANGPT1_ENST00000520052.1_Silent_p.T27T	p.T27T			Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		3	366	-	Breast(1;5.06e-08)		227					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.81A>C																																																																																					0.418	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		12	127	0	0	0	1	0	12	127				
EPHA3	2042	broad.mit.edu	37	3	89390920	89390920	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:89390920C>A	ENST00000336596.2	+	5	1211	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATCTTCACCAAGAAATGTT	0.403										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(985-987)cCa>cAa		EPH receptor A3							61.0	65.0	64.0					3																	89390920		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390920C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.986C>A	3.37:g.89390920C>A	ENSP00000337451:p.Pro329Gln	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q	p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1211	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	329			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.986C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234189	0.79688	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.79749	-1.3;-1.3;-1.3	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93203	0.7835	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.93970	0.7248	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	329;329	P29320;P29320-2	EPHA3_HUMAN;.	Q	329	ENSP00000337451:P329Q;ENSP00000399926:P329Q;ENSP00000419190:P329Q	.	P	+	2	0	EPHA3	89473610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CCA		0.403	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		8	30	1	0	1.26484e-09	1	1.33142e-09	8	30				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	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			28	33	0	0	0	1	0	28	33				
FLG	2312	broad.mit.edu	37	1	152276230	152276230	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:152276230A>G	ENST00000368799.1	-	3	11167	c.11132T>C	c.(11131-11133)cTc>cCc	p.L3711P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3711	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCTGGTAGAGGAAAGACCC	0.617									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11131-11133)cTc>cCc		filaggrin							144.0	150.0	148.0					1																	152276230		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276230A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11132T>C	1.37:g.152276230A>G	ENSP00000357789:p.Leu3711Pro					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.L3711P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11167	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3711			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11132T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	6.378	0.437900	0.12104	.	.	ENSG00000143631	ENST00000368799	T	0.01854	4.6	1.79	-3.33	0.04958	.	.	.	.	.	T	0.00754	0.0025	M	0.73962	2.25	0.09310	N	1	P	0.36144	0.539	B	0.31547	0.132	T	0.41538	-0.9503	9	0.23302	T	0.38	.	2.9599	0.05889	0.2852:0.0:0.4754:0.2394	.	3711	P20930	FILA_HUMAN	P	3711	ENSP00000357789:L3711P	ENSP00000357789:L3711P	L	-	2	0	FLG	150542854	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.719000	0.00812	-0.835000	0.04234	-0.398000	0.06409	CTC		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		95	171	0	0	0	1	0	95	171				
OR10J5	127385	broad.mit.edu	37	1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	rs141462119	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCTTCTTCCGGCCCTCAGC	0.483													C|||	10	0.00199681	0.0	0.0	5008	,	,		21259	0.0		0.0	False		,,,				2504	0.0102					ENST00000334857.2																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(697-699)cGg>cAg		olfactory receptor, family 10, subfamily J, member 5		C	GLN/ARG	0,4406		0,0,2203	81.0	80.0	80.0		698	-1.0	0.0	1	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR10J5	NM_001004469.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	233/310	159505100	1,13005	2203	4300	6503	SO:0001583	missense	127385				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159505100C>T		CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.698G>A	1.37:g.159505100C>T	ENSP00000334441:p.Arg233Gln						p.R233Q	NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN			1	742	-	all_hematologic(112;0.0429)		233		R -> W (in dbSNP:rs35393723).			B9EH35|Q6IFH2	Missense_Mutation	SNP	ENST00000334857.2	37	c.698G>A	CCDS30910.1	.	.	.	.	.	.	.	.	.	.	C	3.972	-0.008239	0.07727	0.0	1.16E-4	ENSG00000184155	ENST00000334857	T	0.00311	8.15	4.13	-0.979	0.10276	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.53780	1.695	0.09310	N	1	B	0.29253	0.239	B	0.23419	0.046	T	0.06162	-1.0842	9	0.51188	T	0.08	.	7.1247	0.25465	0.0:0.428:0.0:0.572	.	233	Q8NHC4	O10J5_HUMAN	Q	233	ENSP00000334441:R233Q	ENSP00000334441:R233Q	R	-	2	0	OR10J5	157771724	0.000000	0.05858	0.028000	0.17463	0.031000	0.12232	-1.073000	0.03430	-0.093000	0.12396	-0.194000	0.12790	CGG		0.483	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059021.1	NM_001004469		13	44	0	0	0	1	0	13	44				
PCDHB12	56124	broad.mit.edu	37	5	140590836	140590836	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr5:140590836A>G	ENST00000239450.2	+	1	2546	c.2357A>G	c.(2356-2358)aAt>aGt	p.N786S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S|PCDHB13_ENST00000341948.4_5'Flank	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	786					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGAAGAAAATCCCCCATTT	0.383																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2356-2358)aAt>aGt									56.0	58.0	58.0					5																	140590836		2202	4300	6502	SO:0001583	missense	0				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590836A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2357A>G	5.37:g.140590836A>G	ENSP00000239450:p.Asn786Ser					PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S	p.N786S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2546	+			786					B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.2357A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	4.291	0.053152	0.08291	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.15834	2.39;2.39	2.74	-0.949	0.10376	.	.	.	.	.	T	0.10337	0.0253	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.38714	-0.9648	9	0.22109	T	0.4	.	6.1478	0.20294	0.3572:0.0:0.6428:0.0	.	786	Q9Y5F1	PCDBC_HUMAN	S	449;786;406	ENSP00000440199:N449S;ENSP00000239450:N786S	ENSP00000239450:N786S	N	+	2	0	PCDHB12	140571020	0.001000	0.12720	0.001000	0.08648	0.012000	0.07955	-0.388000	0.07352	-0.238000	0.09724	0.260000	0.18958	AAT		0.383	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		27	50	0	0	0	1	0	27	50				
COL21A1	81578	broad.mit.edu	37	6	55924013	55924013	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:55924013C>T	ENST00000244728.5	-	29	3033	c.2636G>A	c.(2635-2637)gGg>gAg	p.G879E	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	879	Collagen-like 6.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGCTCCCTTTTTCCCC	0.448																																						ENST00000244728.5																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41						c.(2635-2637)gGg>gAg		collagen, type XXI, alpha 1							80.0	84.0	83.0					6																	55924013		1841	4086	5927	SO:0001583	missense	0				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:55924013C>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2636G>A	6.37:g.55924013C>T	ENSP00000244728:p.Gly879Glu					COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	p.G879E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		29	3033	-	Lung NSC(77;0.0483)		879			Collagen-like 6.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.2636G>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780273	0.49891	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	D;D;D;D	0.99619	-4.58;-4.58;-4.58;-6.28	5.28	5.28	0.74379	.	0.000000	0.56097	D	0.000021	D	0.99837	0.9926	H	0.97587	4.035	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96705	0.9521	10	0.87932	D	0	.	18.9216	0.92528	0.0:1.0:0.0:0.0	.	245;879;879;236	Q96P44-2;B7ZLK3;Q96P44;B3KU30	.;.;COLA1_HUMAN;.	E	879;876;879;876;245	ENSP00000244728:G879E;ENSP00000359855:G876E;ENSP00000444384:G879E;ENSP00000359844:G245E	ENSP00000244728:G879E	G	-	2	0	COL21A1	56031972	1.000000	0.71417	0.971000	0.41717	0.949000	0.60115	6.146000	0.71777	2.455000	0.83008	0.655000	0.94253	GGG		0.448	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			7	17	0	0	0	1	0	7	17				
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230095G>C	ENST00000279791.1	-	1	782	c.783C>G	c.(781-783)ccC>ccG	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493																																						ENST00000279791.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.P261P(1)|p.P261Q(1)	urinary_tract(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(781-783)ccC>ccG		olfactory receptor, family 5, subfamily M, member 9							69.0	62.0	65.0					11																	56230095		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230095G>C	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.783C>G	11.37:g.56230095G>C							p.P261P	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	782	-	Esophageal squamous(21;0.00448)		261					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.783C>G	CCDS31531.1																																																																																				0.493	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		10	42	0	0	0	1	0	10	42				
SYCE1	93426	broad.mit.edu	37	10	135370647	135370647	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:135370647A>T	ENST00000343131.5	-	7	492	c.388T>A	c.(388-390)Ttg>Atg	p.L130M	SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.L94M	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACTCCTGCAACATGGTGTGC	0.547																																						ENST00000368517.3																			0				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19						c.(280-282)Ttg>Atg		synaptonemal complex central element protein 1							228.0	215.0	219.0					10																	135370647		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135370647A>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.388T>A	10.37:g.135370647A>T	ENSP00000341282:p.Leu130Met					SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L130M	p.L94M	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	7	418	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	130					B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.280T>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	A	8.523	0.869240	0.17322	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.31247	1.5;3.14;3.14;3.14	4.3	2.14	0.27477	.	0.114911	0.37219	N	0.002193	T	0.40171	0.1106	L	0.44542	1.39	0.09310	N	0.999994	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.91635	0.999;0.976;0.965	T	0.12477	-1.0546	10	0.48119	T	0.1	-3.2344	5.6118	0.17410	0.6346:0.0:0.3654:0.0	.	2;130;94	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	M	130;94;94;130	ENSP00000303978:L130M;ENSP00000411779:L94M;ENSP00000357503:L94M;ENSP00000341282:L130M	ENSP00000303978:L130M	L	-	1	2	SYCE1	135220637	0.325000	0.24660	0.271000	0.24616	0.065000	0.16274	0.334000	0.19787	0.185000	0.20105	-1.139000	0.01908	TTG		0.547	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		32	134	0	0	0	1	0	32	134				
KRT34	3885	broad.mit.edu	37	17	39535345	39535345	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617																																						ENST00000394001.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1084-1086)aaC>aaT		keratin 34							120.0	103.0	109.0					17																	39535345		2203	4300	6503	SO:0001819	synonymous_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535345G>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1086C>T	17.37:g.39535345G>A							p.N362N	NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN			6	1116	-		Breast(137;0.000496)	362			Coil 2.|Rod.		Q8IUT8|Q8N4W2	Silent	SNP	ENST00000394001.1	37	c.1086C>T	CCDS11390.1																																																																																				0.617	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		30	50	0	0	0	1	0	30	50				
DUS4L	11062	broad.mit.edu	37	7	107215662	107215662	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr7:107215662G>C	ENST00000265720.3	+	6	748	c.386G>C	c.(385-387)tGc>tCc	p.C129S	DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	129							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGGGGCTTGCTTAATAAAC	0.363																																						ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.(385-387)tGc>tCc		dihydrouridine synthase 4-like (S. cerevisiae)							91.0	96.0	95.0					7																	107215662		2203	4300	6503	SO:0001583	missense	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107215662G>C	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.386G>C	7.37:g.107215662G>C	ENSP00000265720:p.Cys129Ser					DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	p.C129S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			6	748	+			129					B4DLX0|Q2NKK1	Missense_Mutation	SNP	ENST00000265720.3	37	c.386G>C	CCDS5745.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254139	0.22965	.	.	ENSG00000105865	ENST00000265720;ENST00000402620	T;T	0.29917	1.55;1.55	5.39	5.39	0.77823	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.27098	0.0664	L	0.33485	1.01	0.80722	D	1	B;B	0.22683	0.073;0.073	B;B	0.20577	0.03;0.03	T	0.03957	-1.0989	10	0.21540	T	0.41	.	19.5146	0.95157	0.0:0.0:1.0:0.0	.	129;129	A4D0R5;O95620	.;DUS4L_HUMAN	S	129;8	ENSP00000265720:C129S;ENSP00000385274:C8S	ENSP00000265720:C129S	C	+	2	0	DUS4L	107002898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.690000	0.91761	0.655000	0.94253	TGC		0.363	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581		12	86	0	0	0	1	0	12	86				
CRYAB	1410	broad.mit.edu	37	11	111779528	111779528	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:111779528C>T	ENST00000533475.1	-	4	937	c.488G>A	c.(487-489)cGt>cAt	p.R163H	CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	163					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.R163H(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CTTCTCTTCACGGGTGATGGG	0.493																																						ENST00000533475.1																			1	Substitution - Missense(1)	p.R163H(1)	large_intestine(1)	endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8						c.(487-489)cGt>cAt		crystallin, alpha B							121.0	111.0	115.0					11																	111779528		2201	4297	6498	SO:0001583	missense	1410				anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	g.chr11:111779528C>T		CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.488G>A	11.37:g.111779528C>T	ENSP00000433560:p.Arg163His					CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H	p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)	4	937	-		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	163					B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	ENST00000533475.1	37	c.488G>A	CCDS8351.1	.	.	.	.	.	.	.	.	.	.	C	33	5.198260	0.94997	.	.	ENSG00000109846	ENST00000526180;ENST00000533280;ENST00000525823;ENST00000533475;ENST00000527950;ENST00000227251;ENST00000531198;ENST00000528961;ENST00000527899;ENST00000526167	D;D;D;D;D;D;D;D;D;D	0.95724	-2.74;-3.79;-3.79;-2.74;-2.74;-2.74;-2.74;-3.79;-2.74;-3.79	5.97	5.97	0.96955	.	0.165138	0.56097	D	0.000025	D	0.96018	0.8703	L	0.35288	1.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.93998	0.7273	10	0.22706	T	0.39	-6.6279	20.4388	0.99107	0.0:1.0:0.0:0.0	.	163	P02511	CRYAB_HUMAN	H	163;96;96;163;163;163;163;96;163;96	ENSP00000436051:R163H;ENSP00000435046:R96H;ENSP00000435411:R96H;ENSP00000433560:R163H;ENSP00000437149:R163H;ENSP00000227251:R163H;ENSP00000434247:R163H;ENSP00000435960:R96H;ENSP00000436089:R163H;ENSP00000434793:R96H	ENSP00000227251:R163H	R	-	2	0	CRYAB	111284738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.457000	0.66672	2.836000	0.97738	0.655000	0.94253	CGT		0.493	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391658.1			16	55	0	0	0	1	0	16	55				
SMARCA4	6597	broad.mit.edu	37	19	11143976	11143976	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:11143976C>T	ENST00000429416.3	+	27	3838	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA4_ENST00000358026.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.A1186G(2)|p.A1186V(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACCTGCAAGCGCAGGACCGA	0.622			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		4	Substitution - Missense(3)|Unknown(1)	p.A1186G(2)|p.A1186V(1)|p.?(1)	kidney(2)|large_intestine(1)|lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3556-3558)gCg>gTg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							46.0	47.0	47.0					19																	11143976		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11143976C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3557C>T	19.37:g.11143976C>T	ENSP00000395654:p.Ala1186Val					SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V	p.A1186V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3841	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1186			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3557C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608844	0.87258	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.74	4.74	0.60224	Helicase, C-terminal (3);	0.124305	0.53938	D	0.000056	D	0.90528	0.7032	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.995;1.0;1.0;0.995	D;D;D;D;D;D;D	0.91635	0.997;0.997;0.997;0.939;0.985;0.999;0.939	D	0.93506	0.6849	10	0.87932	D	0	-24.4926	16.7067	0.85374	0.0:1.0:0.0:0.0	.	1186;1186;1186;1186;1186;406;1186	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	V	1186;1186;1250;1186;1186;1186;1186;1186	ENSP00000395654:A1186V;ENSP00000350720:A1186V;ENSP00000343896:A1186V;ENSP00000445036:A1186V;ENSP00000392837:A1186V;ENSP00000397783:A1186V;ENSP00000414727:A1186V	ENSP00000343896:A1186V	A	+	2	0	SMARCA4	11004976	1.000000	0.71417	0.904000	0.35570	0.891000	0.51852	7.383000	0.79741	2.488000	0.83962	0.558000	0.71614	GCG		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		13	23	0	0	0	1	0	13	23				
NCR1	9437	broad.mit.edu	37	19	55420628	55420628	+	Missense_Mutation	SNP	C	C	T	rs142626797		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55420628C>T	ENST00000291890.4	+	4	418	c.380C>T	c.(379-381)tCg>tTg	p.S127L	NCR1_ENST00000598576.1_Missense_Mutation_p.S115L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000594765.1_Missense_Mutation_p.S127L|NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	127					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCACCCTCTCGGTTCATCCT	0.483													.|||	1	0.000199681	0.0	0.0	5008	,	,		17541	0.0		0.001	False		,,,				2504	0.0					ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(379-381)tCg>tTg		natural cytotoxicity triggering receptor 1		C	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	83.0	71.0	75.0		380,380,95,95,380	1.2	0.4	19	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NCR1	NM_001145457.1,NM_001145458.1,NM_001242356.1,NM_001242357.1,NM_004829.5	145,145,145,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	127/304,127/288,32/210,32/193,127/305	55420628	1,13005	2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420628C>T	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.380C>T	19.37:g.55420628C>T	ENSP00000291890:p.Ser127Leu					NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000291890.4_Missense_Mutation_p.S127L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000598576.1_Missense_Mutation_p.S115L	p.S127L			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	405	+			127					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.380C>T	CCDS12911.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.388	1.074674	0.20227	0.0	1.16E-4	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00776	5.71;5.71;5.71;5.71;5.71	3.53	1.23	0.21249	Immunoglobulin-like fold (1);	1.084070	0.07158	N	0.850155	T	0.00784	0.0026	L	0.45228	1.405	0.19575	N	0.999962	P;B;P;B;B;B	0.44429	0.835;0.077;0.614;0.077;0.24;0.086	B;B;B;B;B;B	0.25614	0.062;0.036;0.053;0.036;0.041;0.028	T	0.54098	-0.8344	10	0.56958	D	0.05	.	9.5244	0.39156	0.0:0.6059:0.3941:0.0	.	20;32;127;32;127;127	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	L	127;127;127;32;20	ENSP00000291890:S127L;ENSP00000404434:S127L;ENSP00000339515:S127L;ENSP00000344358:S32L;ENSP00000349972:S20L	ENSP00000291890:S127L	S	+	2	0	NCR1	60112440	0.215000	0.23574	0.430000	0.26722	0.453000	0.32348	0.606000	0.24194	0.433000	0.26313	0.591000	0.81541	TCG		0.483	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			11	34	0	0	0	1	0	11	34				
LOC101927209	101927209	broad.mit.edu	37	1	142713956	142713956	+	lincRNA	SNP	G	G	A	rs12161184		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:142713956G>A	ENST00000610091.1	-	0	1702																											AAGTTAAAGAGTAACCTGCAC	0.308																																						ENST00000369381.2																			0																																																			0							g.chr1:142713956G>A																													1.37:g.142713956G>A														0	649	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.308	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	30	0	0	0	1	0	3	30				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	2	0	0	0	1	0	17	2				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	51	0	0	0	1	0	4	51				
OR5M9	390162	broad.mit.edu	37	11	56230096	56230096	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230096G>A	ENST00000279791.1	-	1	781	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTCCTCAGTGGGTCTCCTGAG	0.488																																						ENST00000279791.1																			1	Substitution - Missense(1)	p.P261Q(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(781-783)cCc>cTc		olfactory receptor, family 5, subfamily M, member 9							69.0	62.0	65.0					11																	56230096		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230096G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.782C>T	11.37:g.56230096G>A	ENSP00000279791:p.Pro261Leu						p.P261L	NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN			1	781	-	Esophageal squamous(21;0.00448)		261					Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.782C>T	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	G	8.996	0.978915	0.18812	.	.	ENSG00000150269	ENST00000279791	T	0.00164	8.64	4.39	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43919	D	0.000510	T	0.00271	0.0008	L	0.41710	1.295	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.51903	-0.8646	10	0.66056	D	0.02	-16.3848	8.4712	0.32986	0.0:0.1456:0.5561:0.2983	.	261	Q8NGP3	OR5M9_HUMAN	L	261	ENSP00000279791:P261L	ENSP00000279791:P261L	P	-	2	0	OR5M9	55986672	0.000000	0.05858	0.004000	0.12327	0.022000	0.10575	-0.087000	0.11215	0.369000	0.24510	0.542000	0.68232	CCC		0.488	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		10	42	0	0	0	1	0	10	42				
TFEB	7942	broad.mit.edu	37	6	41654880	41654880	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:41654880T>C	ENST00000230323.4	-	8	1056	c.755A>G	c.(754-756)aAt>aGt	p.N252S	TFEB_ENST00000394283.1_Missense_Mutation_p.N252S|TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	252	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATGCGGTCATTGATGTTGAA	0.547			T	ALPHA	renal (childhood epithelioid)																																	ENST00000394283.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(754-756)aAt>aGt		transcription factor EB							140.0	115.0	123.0					6																	41654880		2203	4300	6503	SO:0001583	missense	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41654880T>C	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.755A>G	6.37:g.41654880T>C	ENSP00000230323:p.Asn252Ser					TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S|TFEB_ENST00000230323.4_Missense_Mutation_p.N252S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S	p.N252S			P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		7	1981	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		252			Helix-loop-helix motif.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Missense_Mutation	SNP	ENST00000230323.4	37	c.755A>G	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.525132	0.85600	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396	D;D;D;D;D;D;D;D;D	0.99369	-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78;-5.78	4.85	4.85	0.62838	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	M	0.76727	2.345	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.992;0.996;0.987	D	0.99517	1.0957	10	0.87932	D	0	-13.5279	14.0911	0.64990	0.0:0.0:0.0:1.0	.	266;252;167	B0QYS6;P19484;P19484-2	.;TFEB_HUMAN;.	S	110;338;252;266;252;167;252;252;252	ENSP00000383998:N110S;ENSP00000343948:N338S;ENSP00000230323:N252S;ENSP00000351742:N266S;ENSP00000384203:N252S;ENSP00000412551:N167S;ENSP00000362124:N252S;ENSP00000377824:N252S;ENSP00000410391:N252S	ENSP00000230323:N252S	N	-	2	0	TFEB	41762858	1.000000	0.71417	0.977000	0.42913	0.984000	0.73092	6.244000	0.72391	1.819000	0.53055	0.460000	0.39030	AAT		0.547	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			5	18	0	0	0	1	0	5	18				
RGS13	6003	broad.mit.edu	37	1	192628531	192628531	+	Missense_Mutation	SNP	T	T	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:192628531T>A	ENST00000391995.2	+	7	646	c.358T>A	c.(358-360)Tgt>Agt	p.C120S	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.C120S	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	120	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CACTGAAACATGTTTTGAAGA	0.348																																						ENST00000391995.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(358-360)Tgt>Agt		regulator of G-protein signaling 13							100.0	87.0	91.0					1																	192628531		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192628531T>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.358T>A	1.37:g.192628531T>A	ENSP00000375853:p.Cys120Ser					RGS13_ENST00000543215.1_Missense_Mutation_p.C120S|RGS13_ENST00000482095.1_3'UTR	p.C120S	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN			7	646	+			120			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.358T>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294283	0.60086	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.01838	4.61;4.61	5.69	4.54	0.55810	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.092837	0.85682	D	0.000000	T	0.03827	0.0108	L	0.39692	1.235	0.38341	D	0.944078	P	0.46457	0.878	P	0.48654	0.585	T	0.51826	-0.8656	10	0.56958	D	0.05	.	8.5581	0.33494	0.3091:0.0:0.0:0.6909	.	120	O14921	RGS13_HUMAN	S	120	ENSP00000375853:C120S;ENSP00000442837:C120S	ENSP00000375853:C120S	C	+	1	0	RGS13	190895154	1.000000	0.71417	0.853000	0.33588	0.977000	0.68977	3.501000	0.53325	0.958000	0.37956	0.482000	0.46254	TGT		0.348	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		11	47	0	0	0	1	0	11	47				
ARHGAP1	392	broad.mit.edu	37	11	46701805	46701805	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:46701805C>G	ENST00000311956.4	-	10	945	c.848G>C	c.(847-849)aGg>aCg	p.R283T		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	283	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTTGGCCGACCTCCGGAAGAT	0.617																																						ENST00000311956.4																			0				endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(847-849)aGg>aCg		Rho GTPase activating protein 1							103.0	91.0	95.0					11																	46701805		2201	4299	6500	SO:0001583	missense	392				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity	g.chr11:46701805C>G	BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.848G>C	11.37:g.46701805C>G	ENSP00000310491:p.Arg283Thr						p.R283T	NM_004308.2	NP_004299.1	Q07960	RHG01_HUMAN		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)	10	945	-		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)	283			Rho-GAP.		D3DQQ6	Missense_Mutation	SNP	ENST00000311956.4	37	c.848G>C	CCDS7922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033893|4.033893	0.75504|0.75504	.|.	.|.	ENSG00000175220|ENSG00000175220	ENST00000528837|ENST00000311956;ENST00000443332	.|T	.|0.18016	.|2.24	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.184388	.|0.56097	.|N	.|0.000024	T|T	0.46521|0.46521	0.1397|0.1397	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.45934|0.45934	-0.9227|-0.9227	5|10	.|0.87932	.|D	.|0	.|.	19.4761|19.4761	0.94989|0.94989	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|283	.|Q07960	.|RHG01_HUMAN	D|T	236|283	.|ENSP00000310491:R283T	.|ENSP00000310491:R283T	E|R	-|-	3|2	2|0	ARHGAP1|ARHGAP1	46658381|46658381	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.243000|0.243000	0.25628|0.25628	7.028000|7.028000	0.76470|0.76470	2.615000|2.615000	0.88500|0.88500	0.555000|0.555000	0.69702|0.69702	GAG|AGG		0.617	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390472.1	NM_004308		10	43	0	0	0	1	0	10	43				
FLNA	2316	broad.mit.edu	37	X	153586584	153586584	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:153586584G>A	ENST00000369850.3	-	28	4974	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	FLNA_ENST00000360319.4_Silent_p.L1580L|FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000422373.1_Silent_p.L1580L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1580	Interaction with furin. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGACAGCCAGCAGGCCCTCC	0.697																																						ENST00000422373.1																			0				breast(6)	6						c.(4738-4740)Ctg>Ttg		filamin A, alpha							20.0	22.0	21.0					X																	153586584		2070	4186	6256	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153586584G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4738C>T	X.37:g.153586584G>A						FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Silent_p.L1580L|FLNA_ENST00000369850.3_Silent_p.L1580L	p.L1580L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			28	4986	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1580			Interaction with furin (By similarity).		E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.4738C>T	CCDS48194.1																																																																																				0.697	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			3	9	0	0	0	1	0	3	9				
OR5A1	219982	broad.mit.edu	37	11	59210797	59210797	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:59210797C>T	ENST00000302030.2	+	1	181	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	52			I -> V (in dbSNP:rs17153732).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTTTTCTGATCAGAGGTGACA	0.498																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(154-156)atC>atT		olfactory receptor, family 5, subfamily A, member 1							151.0	146.0	148.0					11																	59210797		2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210797C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.156C>T	11.37:g.59210797C>T							p.I52I	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	181	+			52		I -> V (in dbSNP:rs17153732).			B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.156C>T	CCDS31561.1																																																																																				0.498	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		18	102	0	0	0	1	0	18	102				
CD1E	913	broad.mit.edu	37	1	158325645	158325645	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:158325645C>T	ENST00000368167.3	+	4	893	c.654C>T	c.(652-654)ggC>ggT	p.G218G	CD1E_ENST00000444681.2_Silent_p.G119G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000368157.1_Silent_p.G29G|CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368163.3_Silent_p.G218G|CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368165.3_Silent_p.G128G	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	218	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGTCCTGTGGCCCCAGTCCTG	0.572																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(355-357)ggC>ggT		CD1e molecule							41.0	43.0	42.0					1																	158325645		2203	4300	6503	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325645C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.654C>T	1.37:g.158325645C>T						CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000368163.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368167.3_Silent_p.G218G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368165.3_Silent_p.G128G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368157.1_Silent_p.G29G	p.G119G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			3	650	+	all_hematologic(112;0.0378)		218					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.357C>T	CCDS41417.1																																																																																				0.572	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		12	46	0	0	0	1	0	12	46				
ADAMTS17	170691	broad.mit.edu	37	15	100695507	100695507	+	Silent	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:100695507G>A	ENST00000268070.4	-	9	1305	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	400	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGGTCATCGTCGTGGTTCA	0.557																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(1198-1200)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							86.0	74.0	78.0					15																	100695507		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100695507G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1200C>T	15.37:g.100695507G>A							p.D400D	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	9	1305	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		400			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.1200C>T	CCDS10383.1																																																																																				0.557	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		4	12	0	0	0	1	0	4	12				
LENG9	94059	broad.mit.edu	37	19	54974125	54974125	+	Silent	SNP	C	C	T			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:54974125C>T	ENST00000333834.4	-	1	769	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	217							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTGTGCAGAGCGGCCTTGTGC	0.701																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(649-651)ccG>ccA		leukocyte receptor cluster (LRC) member 9							17.0	18.0	18.0					19																	54974125		2124	4174	6298	SO:0001819	synonymous_variant	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54974125C>T	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.651G>A	19.37:g.54974125C>T							p.P217P	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	769	-	Ovarian(34;0.19)		217					B2VAM3	Silent	SNP	ENST00000333834.4	37	c.651G>A	CCDS12895.2																																																																																				0.701	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		5	25	0	0	0	1	0	5	25				
REST	5978	broad.mit.edu	37	4	57796251	57796251	+	Silent	SNP	A	A	G			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:57796251A>G	ENST00000309042.7	+	4	1541	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	409	Lys-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATCACTTCAAATCTAAGCATC	0.378																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(1225-1227)aaA>aaG		RE1-silencing transcription factor							134.0	134.0	134.0					4																	57796251		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57796251A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.1227A>G	4.37:g.57796251A>G							p.K409K	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN			4	1541	+	Glioma(25;0.08)|all_neural(26;0.181)		409			Lys-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.1227A>G	CCDS3509.1																																																																																				0.378	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		29	129	0	0	0	1	0	29	129				
MMP3	4314	broad.mit.edu	37	11	102711301	102711301	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:102711301C>A	ENST00000299855.5	-	5	905	c.649G>T	c.(649-651)Gct>Tct	p.A217S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	217					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	ATTTCATGAGCAGCAACGAGA	0.413																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(649-651)Gct>Tct		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)						101.0	99.0	99.0					11																	102711301		2203	4299	6502	SO:0001583	missense	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102711301C>A	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.649G>T	11.37:g.102711301C>A	ENSP00000299855:p.Ala217Ser						p.A217S	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	5	905	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	217					B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	ENST00000299855.5	37	c.649G>T	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053414	0.75960	.	.	ENSG00000149968	ENST00000299855	T	0.25912	1.77	4.98	4.07	0.47477	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.228496	0.22155	N	0.063872	T	0.62146	0.2404	H	0.97390	3.995	0.58432	D	0.999998	D	0.63880	0.993	D	0.71656	0.974	T	0.71464	-0.4585	10	0.87932	D	0	.	9.523	0.39147	0.0:0.8408:0.0:0.1592	.	217	P08254	MMP3_HUMAN	S	217	ENSP00000299855:A217S	ENSP00000299855:A217S	A	-	1	0	MMP3	102216511	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.540000	0.60664	1.333000	0.45449	0.563000	0.77884	GCT		0.413	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	56	1	0	0.00024832	1	0.000252529	4	56				
RIPK1	8737	broad.mit.edu	37	6	3106127	3106127	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:3106127G>A	ENST00000259808.4	+	9	1716	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D|RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	473	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGCTCACATGGCTTTGGAACA	0.498																																						ENST00000259808.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(1417-1419)gGc>gAc		receptor (TNFRSF)-interacting serine-threonine kinase 1							80.0	65.0	70.0					6																	3106127		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3106127G>A	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1418G>A	6.37:g.3106127G>A	ENSP00000259808:p.Gly473Asp					RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D	p.G473D			Q13546	RIPK1_HUMAN			9	1716	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	473			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.1418G>A	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385455	0.25031	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409;ENST00000453483	T;T;T	0.75938	-0.98;-0.47;-0.98	5.4	1.18	0.20946	.	1.315740	0.04701	N	0.415937	T	0.49541	0.1563	L	0.55481	1.735	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.42982	-0.9419	10	0.56958	D	0.05	9.0E-4	5.226	0.15396	0.2658:0.0:0.5613:0.1729	.	427;473	Q13546-2;Q13546	.;RIPK1_HUMAN	D	473;427;473;75	ENSP00000259808:G473D;ENSP00000442294:G427D;ENSP00000369773:G473D	ENSP00000259808:G473D	G	+	2	0	RIPK1	3051126	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.266000	0.08631	0.279000	0.22186	0.655000	0.94253	GGC		0.498	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		4	32	0	0	0	1	0	4	32				
GCKR	2646	broad.mit.edu	37	2	27722069	27722071	+	In_Frame_Del	DEL	GAA	GAA	-	rs200836461		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:27722069_27722071delGAA	ENST00000264717.2	+	6	552_554	c.489_491delGAA	c.(487-492)ctgaag>ctg	p.K165del	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	165	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTGAGGAACTGAAGAAGGTCTGT	0.512																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(487-492)ctg>ct		glucokinase (hexokinase 4) regulator																																				SO:0001651	inframe_deletion	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27722069_27722071delGAA	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.489_491delGAA	2.37:g.27722072_27722074delGAA	ENSP00000264717:p.Lys165del					GCKR_ENST00000424318.2_Intron	p.LK163del	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			6	552_554	+	Acute lymphoblastic leukemia(172;0.155)		163			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	In_Frame_Del	DEL	ENST00000264717.2	37	c.489_491delGAA	CCDS1757.1																																																																																				0.512	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		10	53						10	53	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			2	4						2	4	---	---	---	---
TNP1	7141	broad.mit.edu	37	2	217724844	217724844	+	5'Flank	DEL	G	G	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:217724844delG	ENST00000236979.2	-	0	0				AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)						chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAGGGAAGGGGCATGGCT	0.562																																						ENST00000447289.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr2:217724844delG		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057		2.37:g.217724844delG	Exception_encountered													0	510	+									RNA	DEL	ENST00000236979.2	37		CCDS2406.1																																																																																				0.562	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		10	18						10	18	---	---	---	---
RP11-324C10.1	0	broad.mit.edu	37	3	172992471	172992474	+	lincRNA	DEL	AAAC	AAAC	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:172992471_172992474delAAAC	ENST00000447709.1	+	0	216																											tccgtctcaaaaacaaacaaacaa	0.505																																						ENST00000447709.1																			0																																																			0							g.chr3:172992471_172992474delAAAC																													3.37:g.172992479_172992482delAAAC														0	216	+									RNA	DEL	ENST00000447709.1	37																																																																																						0.505	RP11-324C10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347063.2			3	3						3	3	---	---	---	---
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs571541469		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)gcggcgdel	p.AA130del	C6orf223_ENST00000439969.2_3'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000442114.2_In_Frame_Del_p.AA110del	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772																																						ENST00000336600.5																			0				central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6						c.(370-375)del		chromosome 6 open reading frame 223																																				SO:0001651	inframe_deletion	221416							g.chr6:43970504_43970509delGCGGCG	BC032706	CCDS34459.1, CCDS55016.1	6p21.1	2012-09-05			ENSG00000181577	ENSG00000181577			28692	protein-coding gene	gene with protein product						12477932	Standard	NM_153246		Approved	MGC45491	uc003own.3	Q8N319	OTTHUMG00000014753	ENST00000336600.5:c.370_375delGCGGCG	6.37:g.43970510_43970515delGCGGCG	ENSP00000426159:p.Ala130_Ala131del					RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_3'UTR|C6orf223_ENST00000448947.2_3'UTR	p.AA130del	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)		4	390_395	+	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		130			Ala-rich.		E9PB59|Q8N575	In_Frame_Del	DEL	ENST00000336600.5	37	c.370_375delGCGGCG	CCDS34459.1																																																																																				0.772	C6orf223-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040702.3	NM_153246		5	6						5	6	---	---	---	---
RP11-1060J15.4	0	broad.mit.edu	37	12	27855674	27855674	+	RNA	DEL	T	T	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr12:27855674delT	ENST00000536317.1	-	0	519				RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.7_ENST00000538640.1_lincRNA|RP11-1060J15.4_ENST00000536922.1_RNA																							ACAAGCAGCCTTATGAAAAGA	0.448																																						ENST00000536317.1																			0																																																			0							g.chr12:27855674delT																													12.37:g.27855674delT						RP11-1060J15.4_ENST00000542660.1_RNA|RP11-1060J15.4_ENST00000536922.1_RNA								0	519	-									RNA	DEL	ENST00000536317.1	37																																																																																						0.448	RP11-1060J15.4-001	KNOWN	non_canonical_polymorphism|basic	antisense	antisense	OTTHUMT00000402891.1			2	4						2	4	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	RP11-217B1.2_ENST00000569473.1_RNA|RP11-217B1.2_ENST00000562356.1_RNA|POLG_ENST00000525806.1_5'Flank|POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(154-159)caa>ca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001651	inframe_deletion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876828_89876830delTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del					POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	489_491	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		54			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	c.156_158delGCA	CCDS10350.1																																																																																				0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		4	8						4	8	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr16:32077916_32077917insTTT	ENST00000354689.6	+	0	294				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		ATGGAAAACGGTTATTTTTTTG	0.421																																						ENST00000566806.1																			0																																																			0							g.chr16:32077916_32077917insTTT	Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077916_32077917insTTT														0	499	-									RNA	INS	ENST00000354689.6	37																																																																																						0.421	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			3	4						3	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GGCTGTGGTCTCAATCAGTTTTTT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1078-1083)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939666_76939669delTCAA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1079_1082delTTGA	X.37:g.76939666_76939669delTCAA	ENSP00000362441:p.Ile360fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	p.IE360fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1293_1296	-			360					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.1079_1082delTTGA	CCDS14434.1																																																																																				0.368	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		38	75						38	75	---	---	---	---
