#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
TTN	7273	broad.mit.edu	37	2	179579894	179579894	+	Silent	SNP	G	G	A	rs370266918	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179579894G>A	ENST00000591111.1	-	88	25292	c.25068C>T	c.(25066-25068)caC>caT	p.H8356H	TTN_ENST00000589042.1_Silent_p.H8673H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.H7429H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12530	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAAGAAACGTGAAATGGGG	0.443													g|||	4	0.000798722	0.003	0.0	5008	,	,		19860	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26017-26019)caC>caT		titin		A	,,,	1,3749		0,1,1874	231.0	214.0	219.0		,22287,,	-1.2	1.0	2		219	0,8214		0,0,4107	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5981	AA,AG,GG		0.0,0.0267,0.0084	,,,	,7429/33424,,	179579894	1,11963	1875	4107	5982	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179579894G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25068C>T	2.37:g.179579894G>A						TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.H7429H|TTN_ENST00000591111.1_Silent_p.H8356H|TTN_ENST00000359218.5_Intron	p.H8673H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		90	26243	-			8356			Ig-like 69.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.26019C>T																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		62	98	0	0	0	1	0	62	98				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	65	0	0	0	1	0	4	65				
RTTN	25914	broad.mit.edu	37	18	67695981	67695981	+	Silent	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:67695981A>C	ENST00000255674.6	-	43	6088	c.5802T>G	c.(5800-5802)ctT>ctG	p.L1934L	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1934				L -> P (in Ref. 4; AAH46222). {ECO:0000305}.	determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CATTTTGATAAAGACAGTTTC	0.308																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5800-5802)ctT>ctG		rotatin							80.0	74.0	76.0					18																	67695981		1829	4083	5912	SO:0001819	synonymous_variant	25914						binding	g.chr18:67695981A>C	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5802T>G	18.37:g.67695981A>C						RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	p.L1934L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			43	6088	-		Esophageal squamous(42;0.129)	1934	L -> P (in Ref. 4; AAH46222).				Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.5802T>G	CCDS42443.1																																																																																				0.308	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		5	16	0	0	0	1	0	5	16				
FLG	2312	broad.mit.edu	37	1	152283229	152283229	+	Missense_Mutation	SNP	G	G	C	rs144375884		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152283229G>C	ENST00000368799.1	-	3	4168	c.4133C>G	c.(4132-4134)gCt>gGt	p.A1378G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1378	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)			TGCAGATGAAGCTTGTCTGTG	0.532									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.(4132-4134)gCt>gGt		filaggrin		G	GLY/ALA	1,4405	2.1+/-5.4	0,1,2202	407.0	380.0	389.0		4133	0.6	0.0	1	dbSNP_134	389	0,8594		0,0,4297	no	missense	FLG	NM_002016.1	60	0,1,6499	CC,CG,GG		0.0,0.0227,0.0077	benign	1378/4062	152283229	1,12999	2203	4297	6500	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.chr1:152283229G>C	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.4133C>G	1.37:g.152283229G>C	ENSP00000357789:p.Ala1378Gly					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.A1378G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4168	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1378			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4133C>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.44	1.349966	0.24426	2.27E-4	0.0	ENSG00000143631	ENST00000368799	T	0.04275	3.66	3.85	0.583	0.17417	.	.	.	.	.	T	0.01661	0.0053	L	0.60455	1.87	0.09310	N	1	B	0.18968	0.032	B	0.17098	0.017	T	0.44421	-0.9329	9	0.26408	T	0.33	.	6.8921	0.24234	0.0:0.3695:0.4407:0.1898	.	1378	P20930	FILA_HUMAN	G	1378	ENSP00000357789:A1378G	ENSP00000357789:A1378G	A	-	2	0	FLG	150549853	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.653000	0.05360	0.030000	0.15379	-0.323000	0.08544	GCT		0.532	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		16	555	0	0	0	1	0	16	555				
ANKRD13B	124930	broad.mit.edu	37	17	27939276	27939276	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:27939276T>G	ENST00000394859.3	+	11	1397	c.1243T>G	c.(1243-1245)Ttc>Gtc	p.F415V	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	415						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCTCCTGGCTTCCCAGTTAA	0.622																																						ENST00000394859.3																			0				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						c.(1243-1245)Ttc>Gtc		ankyrin repeat domain 13B							86.0	84.0	85.0					17																	27939276		2203	4300	6503	SO:0001583	missense	124930							g.chr17:27939276T>G	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1243T>G	17.37:g.27939276T>G	ENSP00000378328:p.Phe415Val					RP11-68I3.2_ENST00000581474.1_RNA	p.F415V	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN			11	1397	+			415					Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	c.1243T>G	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506837	0.85282	.	.	ENSG00000198720	ENST00000394859	T	0.69306	-0.39	5.83	5.83	0.93111	.	0.044919	0.85682	D	0.000000	D	0.86184	0.5872	M	0.93720	3.45	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.89794	0.3970	10	0.87932	D	0	-23.9562	15.8671	0.79074	0.0:0.0:0.0:1.0	.	415	Q86YJ7	AN13B_HUMAN	V	415	ENSP00000378328:F415V	ENSP00000378328:F415V	F	+	1	0	ANKRD13B	24963402	1.000000	0.71417	0.992000	0.48379	0.620000	0.37586	7.962000	0.87912	2.220000	0.72140	0.533000	0.62120	TTC		0.622	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345		32	74	0	0	0	1	0	32	74				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	62	0	0	0	1	0	5	62				
THBS1	7057	broad.mit.edu	37	15	39884880	39884880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:39884880C>T	ENST00000260356.5	+	17	2809	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	882					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CAATGCCAACCAGGCTGACCA	0.502																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(2644-2646)Cag>Tag		thrombospondin 1	Becaplermin(DB00102)						135.0	95.0	108.0					15																	39884880		2200	4297	6497	SO:0001587	stop_gained	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39884880C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2644C>T	15.37:g.39884880C>T	ENSP00000260356:p.Gln882*						p.Q882*	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	17	2809	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	882					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Nonsense_Mutation	SNP	ENST00000260356.5	37	c.2644C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	41	8.886990	0.98990	.	.	ENSG00000137801	ENST00000260356	.	.	.	5.3	5.3	0.74995	.	0.000000	0.34178	N	0.004196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.6107	14.5347	0.67953	0.0:0.8535:0.1465:0.0	.	.	.	.	X	882	.	ENSP00000260356:Q882X	Q	+	1	0	THBS1	37672172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.474000	0.83562	0.655000	0.94253	CAG		0.502	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		18	36	0	0	0	1	0	18	36				
MCF2	4168	broad.mit.edu	37	X	138711938	138711938	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:138711938T>A	ENST00000370576.4	-	4	563	c.354A>T	c.(352-354)gaA>gaT	p.E118D	MCF2_ENST00000519895.1_Missense_Mutation_p.E178D|MCF2_ENST00000536274.1_Missense_Mutation_p.E79D|MCF2_ENST00000370573.4_Missense_Mutation_p.E118D|MCF2_ENST00000370578.4_Missense_Mutation_p.E263D|MCF2_ENST00000338585.6_Missense_Mutation_p.E118D|MCF2_ENST00000520602.1_Missense_Mutation_p.E178D|MCF2_ENST00000414978.1_Missense_Mutation_p.E178D	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	118					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGCCAGTTCAGTTCCAA	0.398																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(532-534)gaA>gaT		MCF.2 cell line derived transforming sequence							194.0	187.0	189.0					X																	138711938		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138711938T>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.354A>T	X.37:g.138711938T>A	ENSP00000359608:p.Glu118Asp					MCF2_ENST00000338585.6_Missense_Mutation_p.E118D|MCF2_ENST00000414978.1_Missense_Mutation_p.E178D|MCF2_ENST00000370573.4_Missense_Mutation_p.E118D|MCF2_ENST00000370576.4_Missense_Mutation_p.E118D|MCF2_ENST00000536274.1_Missense_Mutation_p.E79D|MCF2_ENST00000370578.4_Missense_Mutation_p.E263D|MCF2_ENST00000519895.1_Missense_Mutation_p.E178D	p.E178D			P10911	MCF2_HUMAN			7	819	-	Acute lymphoblastic leukemia(192;0.000127)		118					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.534A>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.317726	0.60524	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.43294	1.19;1.13;0.95;1.19;1.19;1.24;1.16;1.2	5.17	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.54046	0.1834	M	0.62016	1.91	0.31052	N	0.715116	B;D;B;B;B;B;D;B	0.89917	0.204;0.999;0.307;0.353;0.307;0.204;1.0;0.204	B;D;B;B;B;B;D;B	0.91635	0.1;0.996;0.204;0.188;0.204;0.1;0.999;0.134	T	0.53947	-0.8366	10	0.30854	T	0.27	.	7.4139	0.27034	0.0:0.3172:0.0:0.6828	.	178;263;79;118;118;263;118;118	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	D	178;118;79;263;178;178;118;118	ENSP00000427745:E178D;ENSP00000359608:E118D;ENSP00000438155:E79D;ENSP00000359610:E263D;ENSP00000397055:E178D;ENSP00000430276:E178D;ENSP00000359605:E118D;ENSP00000342204:E118D	ENSP00000342204:E118D	E	-	3	2	MCF2	138539604	0.995000	0.38212	0.997000	0.53966	0.997000	0.91878	0.306000	0.19279	0.580000	0.29522	0.425000	0.28330	GAA		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		76	134	0	0	0	1	0	76	134				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	32	0	0	0	1	0	4	32				
PRDM7	11105	broad.mit.edu	37	16	90124772	90124772	+	Silent	SNP	G	G	A	rs144617453	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:90124772G>A	ENST00000449207.2	-	10	1423	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	PRDM7_ENST00000407825.1_Missense_Mutation_p.A168V|PRDM7_ENST00000325921.6_Missense_Mutation_p.A168V	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	468					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAATATTGCCGCTCCTGATTC	0.468													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19810	0.0		0.0	False		,,,				2504	0.0041					ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(502-504)gCg>gTg		PR domain containing 7		G	,VAL/ALA	10,4386	16.8+/-37.8	0,10,2188	103.0	101.0	102.0		1404,503	2.4	0.0	16	dbSNP_134	102	3,8597	3.0+/-9.4	0,3,4297	yes	coding-synonymous,missense	PRDM7	NM_001098173.1,NM_052996.2	,64	0,13,6485	AA,AG,GG		0.0349,0.2275,0.1	,	468/493,168/172	90124772	13,12983	2198	4300	6498	SO:0001819	synonymous_variant	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90124772G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1404C>T	16.37:g.90124772G>A						PRDM7_ENST00000325921.6_Missense_Mutation_p.A168V|PRDM7_ENST00000449207.2_Silent_p.S468S	p.A168V			Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1140	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	0					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.503C>T	CCDS45557.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.69	2.610611	0.46527	0.002275	3.49E-4	ENSG00000126856	ENST00000325921;ENST00000407825	T;T	0.51817	0.69;0.69	2.4	2.4	0.29515	.	.	.	.	.	T	0.31606	0.0802	.	.	.	0.09310	N	1	P	0.50528	0.936	B	0.40038	0.317	T	0.10154	-1.0642	7	.	.	.	-0.0876	5.6357	0.17536	0.1708:0.0:0.8292:0.0	.	168	Q9NQW5-2	.	V	168	ENSP00000315512:A168V;ENSP00000385121:A168V	.	A	-	2	0	PRDM7	88652273	0.002000	0.14202	0.022000	0.16811	0.061000	0.15899	0.750000	0.26334	1.312000	0.45043	0.313000	0.20887	GCG		0.468	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			4	115	0	0	0	1	0	4	115				
GPR112	139378	broad.mit.edu	37	X	135429890	135429890	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:135429890C>A	ENST00000394143.1	+	6	4316	c.4025C>A	c.(4024-4026)aCc>aAc	p.T1342N	GPR112_ENST00000370652.1_Missense_Mutation_p.T1342N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1279N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1137N|GPR112_ENST00000412101.1_Missense_Mutation_p.T1137N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1342					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTACACCAACCTTGACCTCA	0.463																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4024-4026)aCc>aAc		G protein-coupled receptor 112							127.0	110.0	116.0					X																	135429890		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429890C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4025C>A	X.37:g.135429890C>A	ENSP00000377699:p.Thr1342Asn					GPR112_ENST00000412101.1_Missense_Mutation_p.T1137N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1279N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1137N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1342N	p.T1342N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	4316	+	Acute lymphoblastic leukemia(192;0.000127)		1342					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4025C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	3.181	-0.167967	0.06461	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.39229	1.13;1.13;1.09;1.2;1.09	3.05	-2.19	0.07015	.	.	.	.	.	T	0.24851	0.0603	L	0.32530	0.975	0.09310	N	1	P;B;B	0.36535	0.557;0.16;0.099	B;B;B	0.33121	0.125;0.158;0.076	T	0.11421	-1.0588	9	0.49607	T	0.09	.	4.2296	0.10597	0.0:0.2725:0.1912:0.5362	.	1279;1137;1342	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	N	1342;1342;1137;1279;1137	ENSP00000377699:T1342N;ENSP00000359686:T1342N;ENSP00000416526:T1137N;ENSP00000287534:T1279N;ENSP00000377697:T1137N	ENSP00000287534:T1279N	T	+	2	0	GPR112	135257556	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.590000	0.05760	-0.628000	0.05582	-0.309000	0.09137	ACC		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			6	131	1	0	0.217242	1	0.217242	6	131				
SPINT1	6692	broad.mit.edu	37	15	41146276	41146276	+	Missense_Mutation	SNP	G	G	A	rs138167951		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:41146276G>A	ENST00000344051.4	+	6	1214	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SPINT1_ENST00000431806.1_Missense_Mutation_p.R311H|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGAAAGGCGCCATCCAGGT	0.592																																						ENST00000344051.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16						c.(979-981)cGc>cAc		serine peptidase inhibitor, Kunitz type 1		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	108.0	108.0		932,932,980	1.0	0.7	15	dbSNP_134	108	0,8600		0,0,4300	no	missense,missense,missense	SPINT1	NM_001032367.1,NM_003710.3,NM_181642.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	311/514,311/514,327/530	41146276	1,13005	2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41146276G>A		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.980G>A	15.37:g.41146276G>A	ENSP00000342098:p.Arg327His					SPINT1_ENST00000562057.1_Missense_Mutation_p.R311H|SPINT1_ENST00000431806.1_Missense_Mutation_p.R311H	p.R327H			O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	6	1214	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	327					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.980G>A	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	3.591	-0.083572	0.07141	2.27E-4	0.0	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95622	-3.7;-3.76	4.59	0.986	0.19784	.	1.291370	0.04602	N	0.398660	D	0.88559	0.6469	N	0.08118	0	0.18873	N	0.999989	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78254	-0.2275	10	0.28530	T	0.3	-8.3304	7.4557	0.27266	0.7285:0.0:0.2715:0.0	.	311;327	O43278-2;O43278	.;SPIT1_HUMAN	H	327;294;311	ENSP00000342098:R327H;ENSP00000409935:R311H	ENSP00000342098:R327H	R	+	2	0	SPINT1	38933568	0.968000	0.33430	0.663000	0.29738	0.821000	0.46438	1.898000	0.39809	0.010000	0.14839	-1.671000	0.00744	CGC		0.592	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		48	114	0	0	0	1	0	48	114				
TTN	7273	broad.mit.edu	37	2	179453926	179453926	+	Silent	SNP	A	A	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179453926A>G	ENST00000591111.1	-	254	57827	c.57603T>C	c.(57601-57603)taT>taC	p.Y19201Y	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.Y20842Y|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Y18274Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11969Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.Y11902Y|TTN_ENST00000460472.2_Silent_p.Y11777Y			Q8WZ42	TITIN_HUMAN	titin	19201	Ig-like 108.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTAACTACATATTTACCCC	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(62524-62526)taT>taC		titin							115.0	115.0	115.0					2																	179453926		1900	4126	6026	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179453926A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.57603T>C	2.37:g.179453926A>G						TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Silent_p.Y11777Y|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11969Y|TTN_ENST00000342992.6_Silent_p.Y18274Y|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Silent_p.Y19201Y|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.Y11902Y|TTN-AS1_ENST00000590932.1_RNA	p.Y20842Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	62750	-			19201			Fibronectin type-III 51.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.62526T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	64	0	0	0	1	0	51	64				
SIPA1L2	57568	broad.mit.edu	37	1	232650368	232650368	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:232650368T>C	ENST00000366630.1	-	2	1076	c.718A>G	c.(718-720)Atc>Gtc	p.I240V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I240V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	240					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCGGAGAGATTGCAGGGTCA	0.473																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(718-720)Atc>Gtc		signal-induced proliferation-associated 1 like 2							78.0	78.0	78.0					1																	232650368		1861	4105	5966	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650368T>C	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.718A>G	1.37:g.232650368T>C	ENSP00000355589:p.Ile240Val					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I240V	p.I240V			Q9P2F8	SI1L2_HUMAN			2	1076	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	240					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.718A>G	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.265096	0.00259	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.76968	-1.06;-1.06	5.3	1.75	0.24633	.	0.368653	0.29307	N	0.012539	T	0.52008	0.1708	N	0.03115	-0.41	0.19945	N	0.999941	B	0.02656	0.0	B	0.04013	0.001	T	0.32981	-0.9886	10	0.19590	T	0.45	-18.802	10.993	0.47559	0.0:0.2785:0.0:0.7215	.	240	Q9P2F8	SI1L2_HUMAN	V	240	ENSP00000355589:I240V;ENSP00000262861:I240V	ENSP00000262861:I240V	I	-	1	0	SIPA1L2	230716991	0.007000	0.16637	0.086000	0.20670	0.735000	0.41995	0.019000	0.13444	-0.085000	0.12573	-1.162000	0.01777	ATC		0.473	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		5	104	0	0	0	1	0	5	104				
CCDC54	84692	broad.mit.edu	37	3	107096617	107096617	+	Silent	SNP	C	C	T	rs144553244	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21297	0.0		0.0	False		,,,				2504	0.0					ENST00000261058.1																			1	Substitution - coding silent(1)	p.D61D(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(181-183)gaC>gaT		coiled-coil domain containing 54							132.0	127.0	129.0					3																	107096617		2203	4300	6503	SO:0001819	synonymous_variant	84692							g.chr3:107096617C>T	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.183C>T	3.37:g.107096617C>T							p.D61D	NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN			1	430	+			61					Q96A43	Silent	SNP	ENST00000261058.1	37	c.183C>T	CCDS2949.1																																																																																				0.363	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600		29	81	0	0	0	1	0	29	81				
CD99L2	83692	broad.mit.edu	37	X	149938823	149938823	+	Silent	SNP	G	G	A	rs147156476	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:149938823G>A	ENST00000370377.3	-	10	792	c.675C>T	c.(673-675)taC>taT	p.Y225Y	CD99L2_ENST00000466436.1_Silent_p.Y176Y|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Silent_p.Y152Y|CD99L2_ENST00000355149.3_Silent_p.Y153Y	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	225					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTCACGTAGTCTGCGT	0.537																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(673-675)taC>taT		CD99 molecule-like 2		G	,,,,	2,3833		0,1,1,1631,570	202.0	120.0	148.0		456,705,675,459,528	-2.9	1.0	X	dbSNP_134	148	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD99L2	NM_001184808.1,NM_001242614.1,NM_031462.3,NM_134445.3,NM_134446.3	,,,,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	,,,,	152/190,235/273,225/263,153/191,176/214	149938823	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149938823G>A	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.675C>T	X.37:g.149938823G>A						CD99L2_ENST00000437787.2_Silent_p.Y152Y|CD99L2_ENST00000355149.3_Silent_p.Y153Y|CD99L2_ENST00000466436.1_Silent_p.Y176Y|CD99L2_ENST00000346693.4_5'UTR	p.Y225Y	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			10	792	-	Acute lymphoblastic leukemia(192;6.56e-05)		225					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Silent	SNP	ENST00000370377.3	37	c.675C>T	CCDS35427.1																																																																																				0.537	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		19	35	0	0	0	1	0	19	35				
DSG2	1829	broad.mit.edu	37	18	29126141	29126141	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:29126141G>C	ENST00000261590.8	+	15	3001	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	931					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGGCTTCTAGAAATGTGATA	0.473																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2791-2793)aGa>aCa		desmoglein 2							92.0	91.0	91.0					18																	29126141		1957	4157	6114	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126141G>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2792G>C	18.37:g.29126141G>C	ENSP00000261590:p.Arg931Thr					RP11-75N4.2_ENST00000583706.1_RNA	p.R931T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	3001	+			931					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2792G>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	G	4.033	0.003645	0.07866	.	.	ENSG00000046604	ENST00000261590	T	0.75367	-0.93	4.9	3.11	0.35812	.	0.967056	0.08537	N	0.931086	T	0.55162	0.1903	N	0.08118	0	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.46965	-0.9153	10	0.52906	T	0.07	.	7.8193	0.29278	0.1524:0.1341:0.7134:0.0	.	931	Q14126	DSG2_HUMAN	T	931	ENSP00000261590:R931T	ENSP00000261590:R931T	R	+	2	0	DSG2	27380139	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.874000	0.28065	0.776000	0.33473	-0.140000	0.14226	AGA		0.473	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		65	76	0	0	0	1	0	65	76				
DPY19L2P1	554236	broad.mit.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TGGCACCTGCGAAGACAGCAT	0.388																																						ENST00000436258.1																			0																																																			0							g.chr7:35131548G>A	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131548G>A														0	1821	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.388	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			3	33	0	0	0	1	0	3	33				
SH3D21	79729	broad.mit.edu	37	1	36785522	36785522	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:36785522G>A	ENST00000426732.2	+	13	1195	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	SH3D21_ENST00000453908.2_Missense_Mutation_p.V420M|SH3D21_ENST00000505871.1_Missense_Mutation_p.V309M|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000312808.4_Missense_Mutation_p.V66M			A4FU49	SH321_HUMAN	SH3 domain containing 21	304						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGAGAAGATGGTGACTCCGGA	0.562																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1258-1260)Gtg>Atg		SH3 domain containing 21							58.0	64.0	62.0					1																	36785522		2203	4300	6503	SO:0001583	missense	79729							g.chr1:36785522G>A	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.910G>A	1.37:g.36785522G>A	ENSP00000408613:p.Val304Met					SH3D21_ENST00000505871.1_Missense_Mutation_p.V309M|SH3D21_ENST00000312808.4_Missense_Mutation_p.V66M|SH3D21_ENST00000426732.2_Missense_Mutation_p.V304M	p.V420M	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1286	+			304					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	ENST00000426732.2	37	c.1258G>A		.	.	.	.	.	.	.	.	.	.	G	11.12	1.543863	0.27563	.	.	ENSG00000214193	ENST00000453908;ENST00000426732;ENST00000312808;ENST00000505871	T;T;T;T	0.54071	1.12;1.6;0.59;1.62	2.63	-0.554	0.11811	.	50.916300	0.00166	U	0.000009	T	0.43743	0.1261	L	0.40543	1.245	0.09310	N	1	P;P	0.49090	0.919;0.764	B;B	0.43536	0.423;0.242	T	0.28459	-1.0043	9	.	.	.	.	2.0853	0.03644	0.1797:0.3007:0.3922:0.1274	.	309;304	A4FU49-3;A4FU49	.;SH321_HUMAN	M	420;304;66;309	ENSP00000403476:V420M;ENSP00000408613:V304M;ENSP00000321936:V66M;ENSP00000421294:V309M	.	V	+	1	0	SH3D21	36558109	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.718000	0.04980	-0.119000	0.11830	-0.344000	0.07964	GTG		0.562	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		6	80	0	0	0	1	0	6	80				
FLG	2312	broad.mit.edu	37	1	152282001	152282001	+	Silent	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152282001T>C	ENST00000368799.1	-	3	5396	c.5361A>G	c.(5359-5361)ggA>ggG	p.G1787G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1787	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)			TTTGTCTTCCTCCAGTGCTGG	0.597									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.(5359-5361)ggA>ggG		filaggrin							219.0	227.0	224.0					1																	152282001		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152282001T>C	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.5361A>G	1.37:g.152282001T>C						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G1787G	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5396	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1787			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5361A>G	CCDS30860.1																																																																																				0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	392	0	0	0	1	0	7	392				
CHCHD4	131474	broad.mit.edu	37	3	14157999	14157999	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:14157999G>A	ENST00000396914.3	-	2	229	c.48C>T	c.(46-48)acC>acT	p.T16T	CHCHD4_ENST00000295767.5_Silent_p.T29T	NM_001098502.1	NP_001091972.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	16					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein import into mitochondrial intermembrane space (GO:0045041)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)	mitochondrial intermembrane space (GO:0005758)	protein disulfide oxidoreductase activity (GO:0015035)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTTCTTTGGTTACAAATA	0.468																																						ENST00000295767.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(85-87)acC>acT		coiled-coil-helix-coiled-coil-helix domain containing 4							210.0	188.0	195.0					3																	14157999		2203	4300	6503	SO:0001819	synonymous_variant	131474				protein transport|transmembrane transport	mitochondrial intermembrane space		g.chr3:14157999G>A	BC017082	CCDS2617.1, CCDS43054.1	3p25.1	2012-10-15			ENSG00000163528	ENSG00000163528		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	26467	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae)"", ""mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae)"""	611077				22214851	Standard	NM_001098502		Approved	FLJ31709, TIMM40, MIA40	uc003byj.4	Q8N4Q1	OTTHUMG00000129805	ENST00000396914.3:c.48C>T	3.37:g.14157999G>A						CHCHD4_ENST00000396914.3_Silent_p.T16T	p.T29T	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN			3	411	-			16					A8K3Z9|Q96AI2|Q96MY6	Silent	SNP	ENST00000396914.3	37	c.87C>T	CCDS43054.1																																																																																				0.468	CHCHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340423.1	NM_144636		4	159	0	0	0	1	0	4	159				
VPS13C	54832	broad.mit.edu	37	15	62300864	62300864	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:62300864C>G	ENST00000261517.5	-	14	1181	c.1108G>C	c.(1108-1110)Ggt>Cgt	p.G370R	VPS13C_ENST00000395898.3_Missense_Mutation_p.G327R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G327R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G370R	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATCGTCGACCATTGGTATGA	0.338																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1108-1110)Ggt>Cgt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							104.0	79.0	88.0					15																	62300864		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62300864C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.1108G>C	15.37:g.62300864C>G	ENSP00000261517:p.Gly370Arg					VPS13C_ENST00000395896.4_Missense_Mutation_p.G370R|VPS13C_ENST00000395898.3_Missense_Mutation_p.G327R|VPS13C_ENST00000249837.3_Missense_Mutation_p.G327R	p.G370R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			14	1181	-			370						Missense_Mutation	SNP	ENST00000261517.5	37	c.1108G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122093	0.37436	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.40756	1.02;1.02;1.02	4.65	-6.17	0.02091	.	0.778563	0.11139	N	0.595527	T	0.21841	0.0526	N	0.22421	0.69	0.20975	N	0.999813	B;B;B;B	0.30634	0.137;0.137;0.288;0.19	B;B;B;B	0.31101	0.124;0.124;0.124;0.058	T	0.18209	-1.0344	10	0.56958	D	0.05	.	5.1695	0.15103	0.2503:0.3381:0.0:0.4115	.	327;370;327;370	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	R	327;370;370;370	ENSP00000249837:G327R;ENSP00000261517:G370R;ENSP00000379233:G370R	ENSP00000249837:G327R	G	-	1	0	VPS13C	60088156	0.032000	0.19561	0.566000	0.28421	0.808000	0.45660	-0.786000	0.04623	-1.137000	0.02888	-0.274000	0.10170	GGT		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		5	8	0	0	0	1	0	5	8				
MAGEB4	4115	broad.mit.edu	37	X	30260295	30260295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:30260295C>T	ENST00000378982.2	+	1	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567																																						ENST00000378982.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(43-45)Cgc>Tgc		melanoma antigen family B, 4							99.0	79.0	86.0					X																	30260295		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260295C>T		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.43C>T	X.37:g.30260295C>T	ENSP00000368266:p.Arg15Cys						p.R15C	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN			1	239	+			15					B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.43C>T	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126557	0.37533	.	.	ENSG00000120289	ENST00000378982	T	0.06933	3.24	3.22	-1.76	0.08006	Melanoma associated antigen, MAGE, N-terminal (1);	1.576910	0.05036	U	0.475533	T	0.21062	0.0507	M	0.76574	2.34	0.09310	N	1	D	0.57257	0.979	P	0.56865	0.808	T	0.27706	-1.0066	10	0.44086	T	0.13	.	7.626	0.28212	0.0:0.3504:0.0:0.6496	.	15	O15481	MAGB4_HUMAN	C	15	ENSP00000368266:R15C	ENSP00000368266:R15C	R	+	1	0	MAGEB4	30170216	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.801000	0.01743	-0.647000	0.05444	-0.268000	0.10319	CGC		0.567	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		13	46	0	0	0	1	0	13	46				
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs59641550		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1	Q6NT46	GAG2A_HUMAN	G antigen 2A	59								p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562																																						ENST00000362097.1																			8	Substitution - Missense(8)	p.Q59E(8)	endometrium(8)	endometrium(4)	4						c.(175-177)Cag>Gag		G antigen 2A																																				SO:0001583	missense	729447							g.chrX:49355893C>G	U19143	CCDS48114.1	Xp11.23	2009-03-17	2007-07-23	2007-07-23	ENSG00000189064	ENSG00000189064			4099	protein-coding gene	gene with protein product	"""cancer/testis antigen family 4, member 2"""	300720	"""G antigen 2"""	GAGE2		7544395	Standard	NM_001127212		Approved	CT4.2		Q6NT46	OTTHUMG00000024143	ENST00000362097.1:c.175C>G	X.37:g.49355893C>G	ENSP00000355421:p.Gln59Glu						p.Q59E	NM_001127212.1	NP_001120684.1					3	258	+	Ovarian(276;0.236)								Missense_Mutation	SNP	ENST00000362097.1	37	c.175C>G	CCDS48114.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.861266	0.00064	.	.	ENSG00000189064	ENST00000362097	T	0.05447	3.44	0.869	-1.69	0.08186	.	.	.	.	.	T	0.00815	0.0027	N	0.00035	-2.545	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	8	0.02654	T	1	.	3.0546	0.06180	0.33:0.2512:0.4188:0.0	.	59	Q6NT46	GAG2A_HUMAN	E	59	ENSP00000355421:Q59E	ENSP00000355421:Q59E	Q	+	1	0	GAGE2A	49242837	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.119000	0.03276	-1.599000	0.01605	-0.870000	0.02990	CAG		0.562	GAGE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060827.3			5	479	0	0	0	1	0	5	479				
TMX2	51075	broad.mit.edu	37	11	57480129	57480129	+	Silent	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:57480129G>A	ENST00000278422.4	+	1	51	c.39G>A	c.(37-39)tcG>tcA	p.S13S	TMX2_ENST00000378312.4_Silent_p.S13S|MED19_ENST00000431606.2_5'Flank|MED19_ENST00000337672.2_5'Flank|TMX2-CTNND1_ENST00000528395.1_Silent_p.S13S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	13					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCGTGTATTCGGTGCCGCGAC	0.627																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(37-39)tcG>tcA		thioredoxin-related transmembrane protein 2							90.0	72.0	78.0					11																	57480129		2201	4296	6497	SO:0001819	synonymous_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57480129G>A	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.39G>A	11.37:g.57480129G>A						TMX2-CTNND1_ENST00000528395.1_Silent_p.S13S|TMX2_ENST00000378312.4_Silent_p.S13S	p.S13S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN			1	51	+			13					B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Silent	SNP	ENST00000278422.4	37	c.39G>A	CCDS7967.1																																																																																				0.627	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		7	38	0	0	0	1	0	7	38				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	44	0	0	0	1	0	16	44				
PRR12	57479	broad.mit.edu	37	19	50123629	50123629	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:50123629C>T	ENST00000418929.2	+	10	5530	c.5518C>T	c.(5518-5520)Ctg>Ttg	p.L1840L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1019							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCGTCTGCTCAAAAC	0.567																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(5518-5520)Ctg>Ttg		proline rich 12							46.0	50.0	49.0					19																	50123629		2106	4226	6332	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50123629C>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5518C>T	19.37:g.50123629C>T							p.L1840L	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	10	5530	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	1019					E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.5518C>T	CCDS46143.1																																																																																				0.567	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		6	15	0	0	0	1	0	6	15				
RGAG1	57529	broad.mit.edu	37	X	109694050	109694050	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:109694050C>G	ENST00000465301.2	+	3	451	c.205C>G	c.(205-207)Cca>Gca	p.P69A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P69A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	69										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGACATCTCCAGTCTTTGA	0.517											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(205-207)Cca>Gca		retrotransposon gag domain containing 1							240.0	208.0	219.0					X																	109694050		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694050C>G	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.205C>G	X.37:g.109694050C>G	ENSP00000419786:p.Pro69Ala		OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1421	RGAG1_ENST00000540313.1_Missense_Mutation_p.P69A	p.P69A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	451	+			69					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.205C>G	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	C	7.197	0.592668	0.13875	.	.	ENSG00000243978	ENST00000520821;ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.66099	-0.19;-0.19	4.16	1.38	0.22167	.	0.459089	0.16314	N	0.219845	T	0.41789	0.1174	L	0.29908	0.895	0.09310	N	1	B	0.25563	0.129	B	0.23419	0.046	T	0.17258	-1.0375	9	.	.	.	-3.9455	3.7088	0.08411	0.0:0.5612:0.2023:0.2365	.	69	Q8NET4	RGAG1_HUMAN	A	69	ENSP00000419786:P69A;ENSP00000441452:P69A	.	P	+	1	0	RGAG1	109580706	0.001000	0.12720	0.058000	0.19502	0.086000	0.17979	-0.052000	0.11865	0.147000	0.19030	-0.208000	0.12717	CCA		0.517	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		25	303	0	0	0	1	0	25	303				
KIAA1324	57535	broad.mit.edu	37	1	109741239	109741239	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:109741239C>G	ENST00000369939.3	+	18	2627	c.2444C>G	c.(2443-2445)aCc>aGc	p.T815S	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T728S	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	815					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGATCAACCACCATCCGCGTC	0.532																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(2443-2445)aCc>aGc		KIAA1324							86.0	65.0	72.0					1																	109741239		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109741239C>G	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2444C>G	1.37:g.109741239C>G	ENSP00000358955:p.Thr815Ser					KIAA1324_ENST00000529753.1_Missense_Mutation_p.T728S|KIAA1324_ENST00000369938.1_3'UTR	p.T815S	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	18	2627	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	815					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2444C>G	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084008	0.55861	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.03951	3.75;3.75;3.75	5.64	5.64	0.86602	Mannose-6-phosphate receptor, binding (1);	0.152885	0.56097	D	0.000024	T	0.01730	0.0055	N	0.16656	0.425	0.37414	D	0.913359	B;P;B;B	0.39181	0.254;0.663;0.254;0.254	B;B;B;B	0.37198	0.06;0.243;0.06;0.06	T	0.63328	-0.6662	10	0.21540	T	0.41	-26.7023	16.6354	0.85058	0.0:1.0:0.0:0.0	.	815;728;815;815	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	S	815;765;728	ENSP00000358955:T815S;ENSP00000393964:T765S;ENSP00000434595:T728S	ENSP00000358955:T815S	T	+	2	0	KIAA1324	109542762	0.927000	0.31430	1.000000	0.80357	0.927000	0.56198	2.087000	0.41653	2.659000	0.90383	0.655000	0.94253	ACC		0.532	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		3	16	0	0	0	1	0	3	16				
CAPN11	11131	broad.mit.edu	37	6	44143857	44143857	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:44143857G>A	ENST00000398776.1	+	8	922	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CAPN11_ENST00000542245.1_Missense_Mutation_p.G295E	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	295	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGTGAGAGGGCACGCTTAC	0.557																																						ENST00000542245.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(883-885)gGg>gAg		calpain 11							78.0	79.0	78.0					6																	44143857		2148	4253	6401	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44143857G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.884G>A	6.37:g.44143857G>A	ENSP00000381758:p.Gly295Glu					CAPN11_ENST00000398776.1_Missense_Mutation_p.G295E	p.G295E			Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		8	922	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		295			Calpain catalytic.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.884G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484468	0.84854	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.97976	-4.64;-4.64	3.56	3.56	0.40772	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.47093	D	0.000252	D	0.99146	0.9705	H	0.97131	3.945	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.98725	1.0710	10	0.87932	D	0	.	15.3933	0.74767	0.0:0.0:1.0:0.0	.	295	Q9UMQ6	CAN11_HUMAN	E	295	ENSP00000381758:G295E;ENSP00000441078:G295E	ENSP00000381758:G295E	G	+	2	0	CAPN11	44251835	1.000000	0.71417	0.748000	0.31131	0.268000	0.26511	9.556000	0.98127	2.317000	0.78254	0.462000	0.41574	GGG		0.557	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			8	23	0	0	0	1	0	8	23				
ATRX	546	broad.mit.edu	37	X	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:76939697C>A	ENST00000373344.5	-	9	1265	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					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						TTAATCATCTCTTTGGGCACA	0.353			"""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.(1051-1053)Gag>Tag		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						81.0	78.0	79.0					X																	76939697		2203	4296	6499	SO:0001587	stop_gained	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:76939697C>A	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.1051G>T	X.37:g.76939697C>A	ENSP00000362441:p.Glu351*					ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*|ATRX_ENST00000480283.1_5'UTR	p.E351*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1265	-			351					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1051G>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	c	38	6.875248	0.97904	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.3	4.44	0.53790	.	0.196705	0.43579	D	0.000553	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.1203	13.1753	0.59624	0.0:0.9208:0.0:0.0792	.	.	.	.	X	351;313;307	.	ENSP00000362441:E351X	E	-	1	0	ATRX	76826353	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.481000	0.81124	1.014000	0.39417	0.502000	0.49764	GAG		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		39	69	1	0	2.75727e-19	1	2.8654e-19	39	69				
CNOT1	23019	broad.mit.edu	37	16	58581553	58581553	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:58581553A>C	ENST00000317147.5	-	26	3888	c.3556T>G	c.(3556-3558)Ttc>Gtc	p.F1186V	CNOT1_ENST00000569240.1_Missense_Mutation_p.F1181V|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1186V|SNORA46_ENST00000384762.1_RNA|CNOT1_ENST00000245138.4_Intron	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1186	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGATCTGAGAAATTGGCTGCA	0.358																																						ENST00000317147.5																			0				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87						c.(3556-3558)Ttc>Gtc		CCR4-NOT transcription complex, subunit 1							70.0	66.0	68.0					16																	58581553		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58581553A>C	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3556T>G	16.37:g.58581553A>C	ENSP00000320949:p.Phe1186Val					CNOT1_ENST00000569240.1_Missense_Mutation_p.F1181V|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1186V	p.F1186V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	26	3888	-			1186					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3556T>G	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822815	0.90873	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	T;T	0.16196	2.36;2.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	L	0.42487	1.325	0.80722	D	1	D;B;P	0.57899	0.981;0.007;0.934	D;B;P	0.69142	0.962;0.018;0.705	T	0.02625	-1.1132	10	0.17832	T	0.49	.	14.918	0.70812	1.0:0.0:0.0:0.0	.	1186;1186;1181	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	V	1186;1181;1186	ENSP00000320949:F1186V;ENSP00000413113:F1186V	ENSP00000320949:F1186V	F	-	1	0	CNOT1	57139054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.263000	0.75096	0.528000	0.53228	TTC		0.358	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		11	28	0	0	0	1	0	11	28				
OR5A1	219982	broad.mit.edu	37	11	59211152	59211152	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:59211152T>A	ENST00000302030.2	+	1	536	c.511T>A	c.(511-513)Ttt>Att	p.F171I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	171						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						TAGGCTTCACTTTTGCGGACC	0.532																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(511-513)Ttt>Att		olfactory receptor, family 5, subfamily A, member 1							267.0	260.0	263.0					11																	59211152		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211152T>A	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.511T>A	11.37:g.59211152T>A	ENSP00000303096:p.Phe171Ile						p.F171I	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	536	+			171					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.511T>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695810	0.48202	.	.	ENSG00000172320	ENST00000302030	T	0.00179	8.61	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.00754	0.0025	M	0.90198	3.095	0.34707	D	0.727381	D	0.76494	0.999	D	0.74023	0.982	T	0.57225	-0.7848	10	0.87932	D	0	-39.188	15.3131	0.74053	0.0:0.0:0.0:1.0	.	171	Q8NGJ0	OR5A1_HUMAN	I	171	ENSP00000303096:F171I	ENSP00000303096:F171I	F	+	1	0	OR5A1	58967728	0.978000	0.34361	0.863000	0.33907	0.061000	0.15899	2.476000	0.45171	2.288000	0.76882	0.528000	0.53228	TTT		0.532	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		8	374	0	0	0	1	0	8	374				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	39	0	0	0	1	0	3	39				
SIMC1	375484	broad.mit.edu	37	5	175763804	175763804	+	Silent	SNP	A	A	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:175763804A>C	ENST00000443967.1	+	10	2603	c.2196A>C	c.(2194-2196)acA>acC	p.T732T	SIMC1_ENST00000430704.2_Silent_p.T317T|SIMC1_ENST00000332772.4_Silent_p.T193T|SIMC1_ENST00000341199.6_Silent_p.T317T			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	732							SUMO polymer binding (GO:0032184)										GCTGTGAGACACCCACCCGCC	0.478																																						ENST00000443967.1																			0											c.(2194-2196)acA>acC		SUMO-interacting motifs containing 1							91.0	95.0	93.0					5																	175763804		2203	4300	6503	SO:0001819	synonymous_variant	375484							g.chr5:175763804A>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2196A>C	5.37:g.175763804A>C						SIMC1_ENST00000332772.4_Silent_p.T193T|SIMC1_ENST00000430704.2_Silent_p.T317T|SIMC1_ENST00000341199.6_Silent_p.T317T	p.T732T							10	2603	+								J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Silent	SNP	ENST00000443967.1	37	c.2196A>C																																																																																					0.478	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		8	59	0	0	0	1	0	8	59				
NOTCH1	4851	broad.mit.edu	37	9	139402727	139402727	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr9:139402727G>C	ENST00000277541.6	-	20	3357	c.3282C>G	c.(3280-3282)tgC>tgG	p.C1094W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1094	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGCACGTCGCAGTAAAGGC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(3280-3282)tgC>tgG		notch 1							53.0	68.0	63.0					9																	139402727		2134	4235	6369	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139402727G>C	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.3282C>G	9.37:g.139402727G>C	ENSP00000277541:p.Cys1094Trp	HNSCC(8;0.001)					p.C1094W	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	20	3357	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1094			EGF-like 28.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.3282C>G	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893077	0.33442	.	.	ENSG00000148400	ENST00000277541	D	0.99914	-7.98	5.23	-5.88	0.02290	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99928	0.9967	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96480	0.9355	10	0.87932	D	0	.	10.3607	0.43991	0.4787:0.0:0.4363:0.085	.	1094	P46531	NOTC1_HUMAN	W	1094	ENSP00000277541:C1094W	ENSP00000277541:C1094W	C	-	3	2	NOTCH1	138522548	0.044000	0.20184	0.546000	0.28166	0.081000	0.17604	-0.592000	0.05747	-1.178000	0.02741	-0.940000	0.02684	TGC		0.662	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	142	0	0	0	1	0	4	142				
NAA10	8260	broad.mit.edu	37	X	153195525	153195525	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:153195525T>C	ENST00000464845.1	-	8	941	c.623A>G	c.(622-624)gAc>gGc	p.D208G	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.D193G|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	208					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GTCCTTGCTGTCCCCACCACT	0.617																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(622-624)gAc>gGc		N(alpha)-acetyltransferase 10, NatA catalytic subunit							109.0	85.0	93.0					X																	153195525		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195525T>C	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.623A>G	X.37:g.153195525T>C	ENSP00000417763:p.Asp208Gly					NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.D193G	p.D208G	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN			8	941	-			208					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.623A>G	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376822	0.61735	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.59638	0.25;0.26	5.35	5.35	0.76521	.	0.052011	0.85682	D	0.000000	T	0.50599	0.1625	L	0.43152	1.355	0.51233	D	0.99991	B;B	0.13594	0.008;0.008	B;B	0.11329	0.005;0.006	T	0.47711	-0.9096	10	0.49607	T	0.09	-39.9726	13.3468	0.60578	0.0:0.0:0.0:1.0	.	193;208	A6NM98;P41227	.;NAA10_HUMAN	G	208;193	ENSP00000417763:D208G;ENSP00000359026:D193G	ENSP00000359026:D193G	D	-	2	0	NAA10	152848719	1.000000	0.71417	0.951000	0.38953	0.962000	0.63368	7.282000	0.78630	1.794000	0.52575	0.425000	0.28330	GAC		0.617	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		4	95	0	0	0	1	0	4	95				
ABCA9	10350	broad.mit.edu	37	17	66982397	66982397	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:66982397C>T	ENST00000340001.4	-	32	4327	c.4116G>A	c.(4114-4116)gcG>gcA	p.A1372A	ABCA9_ENST00000453985.2_Silent_p.A1334A|ABCA9_ENST00000370732.2_Silent_p.A1372A|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGGCCACAGCGCATTCTCCT	0.547																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4114-4116)gcG>gcA		ATP-binding cassette, sub-family A (ABC1), member 9							129.0	105.0	113.0					17																	66982397		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66982397C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4116G>A	17.37:g.66982397C>T						ABCA9_ENST00000453985.2_Silent_p.A1334A|ABCA9_ENST00000370732.2_Silent_p.A1372A	p.A1372A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			32	4327	-	Breast(10;1.47e-12)		1372			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4116G>A	CCDS11681.1																																																																																				0.547	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		8	116	0	0	0	1	0	8	116				
FAT2	2196	broad.mit.edu	37	5	150917494	150917494	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:150917494C>G	ENST00000261800.5	-	11	9065	c.9053G>C	c.(9052-9054)gGc>gCc	p.G3018A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3018	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAACCTTGCCAGTATAGAG	0.458																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9052-9054)gGc>gCc		FAT atypical cadherin 2							90.0	83.0	86.0					5																	150917494		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150917494C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9053G>C	5.37:g.150917494C>G	ENSP00000261800:p.Gly3018Ala						p.G3018A	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	9065	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3018			Cadherin 27.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9053G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.447717	0.01080	.	.	ENSG00000086570	ENST00000261800	T	0.46819	0.86	4.69	4.69	0.59074	Cadherin (3);Cadherin-like (1);	0.110334	0.39909	N	0.001225	T	0.20820	0.0501	N	0.02103	-0.685	0.37720	D	0.924887	B	0.33448	0.412	B	0.39503	0.301	T	0.26467	-1.0102	10	0.08179	T	0.78	.	7.9842	0.30202	0.0:0.7529:0.1622:0.0849	.	3018	Q9NYQ8	FAT2_HUMAN	A	3018	ENSP00000261800:G3018A	ENSP00000261800:G3018A	G	-	2	0	FAT2	150897687	0.016000	0.18221	0.991000	0.47740	0.174000	0.22865	1.082000	0.30803	2.168000	0.68352	0.563000	0.77884	GGC		0.458	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	52	0	0	0	1	0	3	52				
AVPR1A	552	broad.mit.edu	37	12	63543861	63543861	+	Silent	SNP	C	C	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr12:63543861C>T	ENST00000299178.2	-	1	861	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	252					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TCTGGCGCGACGCCGTCTTCC	0.622																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(754-756)gcG>gcA		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						96.0	96.0	96.0					12																	63543861		2203	4300	6503	SO:0001819	synonymous_variant	0				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543861C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.756G>A	12.37:g.63543861C>T							p.A252A	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	861	-			252						Silent	SNP	ENST00000299178.2	37	c.756G>A	CCDS8965.1																																																																																				0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			7	190	0	0	0	1	0	7	190				
PRODH2	58510	broad.mit.edu	37	19	36293163	36293163	+	Silent	SNP	G	G	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:36293163G>T	ENST00000301175.3	-	10	1373	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	452					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGAGGAATGCCCAGCTCCC	0.542																																						ENST00000301175.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1354-1356)ggC>ggA		proline dehydrogenase (oxidase) 2							210.0	159.0	176.0					19																	36293163		2203	4300	6503	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36293163G>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.1356C>A	19.37:g.36293163G>T							p.G452G	NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		10	1373	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		452						Silent	SNP	ENST00000301175.3	37	c.1356C>A	CCDS12478.1																																																																																				0.542	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232		10	136	1	0	1.5842e-08	1	1.61467e-08	10	136				
C16orf70	80262	broad.mit.edu	37	16	67168278	67168278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:67168278G>A	ENST00000219139.3	+	8	757	c.569G>A	c.(568-570)aGc>aAc	p.S190N	C16orf70_ENST00000569600.1_Missense_Mutation_p.S190N|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	190										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGCCTCTGAGCTGTTTCCTG	0.532																																						ENST00000219139.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(568-570)aGc>aAc		chromosome 16 open reading frame 70							302.0	291.0	295.0					16																	67168278		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67168278G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.569G>A	16.37:g.67168278G>A	ENSP00000219139:p.Ser190Asn					C16orf70_ENST00000569600.1_Missense_Mutation_p.S190N|C16orf70_ENST00000569683.1_3'UTR	p.S190N	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	8	757	+		Ovarian(137;0.192)	190					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.569G>A	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.837388	0.50951	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.98	5.98	0.97165	.	0.143817	0.64402	D	0.000004	T	0.66307	0.2776	L	0.55213	1.73	0.54753	D	0.999989	B	0.14805	0.011	B	0.20184	0.028	T	0.60576	-0.7236	9	0.51188	T	0.08	-0.0354	19.0219	0.92919	0.0:0.0:1.0:0.0	.	190	Q9BSU1	CP070_HUMAN	N	190	.	ENSP00000219139:S190N	S	+	2	0	C16orf70	65725779	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.623000	0.67757	2.835000	0.97688	0.650000	0.86243	AGC		0.532	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		9	470	0	0	0	1	0	9	470				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	49	0	0	0	1	0	3	49				
KCNA7	3743	broad.mit.edu	37	19	49573516	49573516	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:49573516A>G	ENST00000221444.1	-	2	1530	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	392					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GGAGACAATGACGGGCACTGG	0.567																																					Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1174-1176)gTc>gCc		potassium voltage-gated channel, shaker-related subfamily, member 7							72.0	65.0	68.0					19																	49573516		2203	4300	6503	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573516A>G	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1175T>C	19.37:g.49573516A>G	ENSP00000221444:p.Val392Ala						p.V392A	NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1530	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	392					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.1175T>C	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.360125	0.82353	.	.	ENSG00000104848	ENST00000221444	D	0.99089	-5.41	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99296	0.9754	M	0.90483	3.12	0.58432	D	0.999995	D	0.54397	0.966	D	0.67548	0.952	D	0.98928	1.0786	10	0.87932	D	0	.	13.3495	0.60593	1.0:0.0:0.0:0.0	.	392	Q96RP8	KCNA7_HUMAN	A	392	ENSP00000221444:V392A	ENSP00000221444:V392A	V	-	2	0	KCNA7	54265328	1.000000	0.71417	0.989000	0.46669	0.953000	0.61014	9.332000	0.96446	1.880000	0.54463	0.402000	0.26972	GTC		0.567	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		26	43	0	0	0	1	0	26	43				
TXN2	25828	broad.mit.edu	37	22	36872905	36872905	+	Splice_Site	SNP	T	T	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr22:36872905T>A	ENST00000216185.2	-	3	730		c.e3-2		TXN2_ENST00000416967.1_Splice_Site|TXN2_ENST00000403313.1_Splice_Site|TXN2_ENST00000487725.1_Splice_Site			Q99757	THIOM_HUMAN	thioredoxin 2						cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						CCACACCACCTCAAAAGGCGA	0.537																																						ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.e3-2		thioredoxin 2							131.0	109.0	117.0					22																	36872905		2203	4300	6503	SO:0001630	splice_region_variant	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36872905T>A	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.264-2A>T	22.37:g.36872905T>A						TXN2_ENST00000416967.1_Splice_Site|TXN2_ENST00000487725.1_Splice_Site|TXN2_ENST00000403313.1_Splice_Site				Q99757	THIOM_HUMAN			3	730	-								Q5JZA0|Q6FH60|Q9UH29	Splice_Site	SNP	ENST00000216185.2	37		CCDS13928.1	.	.	.	.	.	.	.	.	.	.	t	17.41	3.381936	0.61845	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4965	0.67691	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXN2	35202851	1.000000	0.71417	0.994000	0.49952	0.628000	0.37860	7.787000	0.85759	1.893000	0.54813	0.358000	0.22013	.		0.537	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473	Intron	5	146	0	0	0	1	0	5	146				
KHDRBS1	10657	broad.mit.edu	37	1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:32479677delC	ENST00000327300.7	+	1	248	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(79-81)cafs		KH domain containing, RNA binding, signal transduction associated 1							3.0	3.0	3.0					1																	32479677		1351	2966	4317	SO:0001589	frameshift_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32479677delC	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.81delC	1.37:g.32479677delC	ENSP00000313829:p.His27fs					KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs	p.H27fs	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			1	248	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	27						Frame_Shift_Del	DEL	ENST00000327300.7	37	c.81delC	CCDS350.1																																																																																				0.771	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		2	4						2	4	---	---	---	---
RP11-274B21.1	0	broad.mit.edu	37	7	128255832	128255833	+	RNA	INS	-	-	T			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr7:128255832_128255833insT	ENST00000605862.1	+	0	758																											TATAGAAATGATTTTTTTTTTC	0.282																																						ENST00000605862.1																			0																																																			0							g.chr7:128255832_128255833insT																													7.37:g.128255842_128255842dupT														0	758	+									RNA	INS	ENST00000605862.1	37																																																																																						0.282	RP11-274B21.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000468355.1			2	4						2	4	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70513778	70513779	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:70513778_70513779insA	ENST00000265872.6	+	11	1407_1408	c.1288_1289insA	c.(1288-1290)gaafs	p.E430fs	SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.E415fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.E415fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	430					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTCCTTAGAAAAAAATATG	0.381																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(1288-1290)aaafs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70513778_70513779insA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1295dupA	10.37:g.70513785_70513785dupA	ENSP00000265872:p.Glu430fs					CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.K415fs|CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.K415fs	p.K430fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			11	1407_1408	+			430					A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Ins	INS	ENST00000265872.6	37	c.1288_1289insA	CCDS7282.1																																																																																				0.381	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		32	68						32	68	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96777876	96777877	+	Splice_Site	DEL	CA	CA	-			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:96777876_96777877delCA	ENST00000359933.4	-	27	4884		c.e27+1		ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTAATAACTCACTTGCTCTCC	0.277																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.e27+1		autophagy related 2B																																				SO:0001630	splice_region_variant	55102							g.chr14:96777876_96777877delCA	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3990+1TG>-	14.37:g.96777876_96777877delCA								NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	27	4884	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)						Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	DEL	ENST00000359933.4	37		CCDS9944.2																																																																																				0.277	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036	Intron	14	26						14	26	---	---	---	---
