#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
NUP205	23165	broad.mit.edu	37	7	135289192	135289192	+	Missense_Mutation	SNP	A	A	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:135289192A>T	ENST00000285968.6	+	19	2833	c.2807A>T	c.(2806-2808)gAt>gTt	p.D936V		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	936					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGGTTGGAGATTTCACACAT	0.353																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2806-2808)gAt>gTt		nucleoporin 205kDa							132.0	123.0	126.0					7																	135289192		2203	4299	6502	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135289192A>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2807A>T	7.37:g.135289192A>T	ENSP00000285968:p.Asp936Val						p.D936V	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			19	2833	+			936					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.2807A>T	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	8.962	0.970868	0.18659	.	.	ENSG00000155561	ENST00000285968	T	0.25414	1.8	5.27	5.27	0.74061	.	0.093361	0.64402	D	0.000001	T	0.24122	0.0584	L	0.41236	1.265	0.80722	D	1	B	0.30146	0.27	B	0.31812	0.136	T	0.03423	-1.1038	10	0.29301	T	0.29	-21.1954	15.1862	0.73002	1.0:0.0:0.0:0.0	.	936	Q92621	NU205_HUMAN	V	936	ENSP00000285968:D936V	ENSP00000285968:D936V	D	+	2	0	NUP205	134939732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.937000	0.92936	1.979000	0.57680	0.383000	0.25322	GAT		0.353	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	67	0	0	0	1	0	4	67				
TTN	7273	broad.mit.edu	37	2	179454380	179454380	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:179454380C>T	ENST00000591111.1	-	254	57373	c.57149G>A	c.(57148-57150)aGg>aAg	p.R19050K	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R20691K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19050	Fibronectin type-III 38. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			ATAGTCAGGCCTCCGCCACTT	0.443																																						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.(62071-62073)aGg>aAg		titin							180.0	174.0	176.0					2																	179454380		1922	4139	6061	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179454380C>T	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.57149G>A	2.37:g.179454380C>T	ENSP00000465570:p.Arg19050Lys					TTN_ENST00000342992.6_Missense_Mutation_p.R18123K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11626K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11751K|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19050K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11818K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.R20691K	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	62296	-			19050					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.62072G>A		.	.	.	.	.	.	.	.	.	.	C	13.43	2.235172	0.39498	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.1	6.1	0.99115	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35770	0.0943	N	0.03224	-0.385	0.40267	D	0.978245	B;B;B;B	0.25272	0.122;0.122;0.122;0.021	B;B;B;B	0.20577	0.03;0.03;0.03;0.022	T	0.34304	-0.9834	9	0.87932	D	0	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	11626;11751;11818;19050	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	18123;11626;11818;11751;11624	ENSP00000343764:R18123K;ENSP00000434586:R11626K;ENSP00000340554:R11818K;ENSP00000352154:R11751K	ENSP00000340554:R11818K	R	-	2	0	TTN	179162626	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.555000	0.60767	2.902000	0.99343	0.650000	0.86243	AGG		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	188	0	0	0	1	0	5	188				
UGT2B17	7367	broad.mit.edu	37	4	69416530	69416530	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:69416530C>T	ENST00000317746.2	-	5	1220	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	393					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.G393D(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	CAAGGGAATGCCCACCATAGG	0.458																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			1	Substitution - Missense(1)	p.G393D(1)	kidney(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1177-1179)gGc>gAc		UDP glucuronosyltransferase 2 family, polypeptide B17							129.0	99.0	110.0					4																	69416530		2105	3977	6082	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69416530C>T	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1178G>A	4.37:g.69416530C>T	ENSP00000320401:p.Gly393Asp						p.G393D	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			5	1220	-			393						Missense_Mutation	SNP	ENST00000317746.2	37	c.1178G>A	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320568	0.41096	.	.	ENSG00000197888	ENST00000317746	T	0.63744	-0.06	2.7	2.7	0.31948	.	0.000000	0.64402	U	0.000001	T	0.81621	0.4861	H	0.96301	3.8	0.35776	D	0.821261	.	.	.	.	.	.	D	0.87420	0.2381	8	0.45353	T	0.12	.	10.8632	0.46839	0.0:1.0:0.0:0.0	.	.	.	.	D	393	ENSP00000320401:G393D	ENSP00000320401:G393D	G	-	2	0	UGT2B17	69099125	1.000000	0.71417	0.988000	0.46212	0.160000	0.22226	6.862000	0.75484	1.342000	0.45619	0.393000	0.25936	GGC		0.458	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		4	252	0	0	0	1	0	4	252				
GATAD1	57798	broad.mit.edu	37	7	92083921	92083921	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:92083921A>G	ENST00000287957.3	+	4	818	c.541A>G	c.(541-543)Aag>Gag	p.K181E	AC007566.10_ENST00000427458.1_RNA	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	GATA zinc finger domain containing 1	181						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(3)	6	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTGCGAGAAGAGTGCAGC	0.443																																						ENST00000287957.3																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(541-543)Aag>Gag		GATA zinc finger domain containing 1							171.0	161.0	164.0					7																	92083921		2203	4300	6503	SO:0001583	missense	57798						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:92083921A>G		CCDS5625.1	7q21-q22	2014-09-17			ENSG00000157259	ENSG00000157259		"""GATA zinc finger domain containing"""	29941	protein-coding gene	gene with protein product	"""ocular development associated gene"""	614518				12062807	Standard	NM_021167		Approved	ODAG, RG083M05.2, FLJ22489	uc003ulx.2	Q8WUU5	OTTHUMG00000131201	ENST00000287957.3:c.541A>G	7.37:g.92083921A>G	ENSP00000287957:p.Lys181Glu						p.K181E	NM_021167.4	NP_066990.3	Q8WUU5	GATD1_HUMAN	STAD - Stomach adenocarcinoma(171;4.51e-05)|GBM - Glioblastoma multiforme(5;8.83e-05)|all cancers(6;0.000136)|Lung(22;0.123)|Epithelial(20;0.179)|LUSC - Lung squamous cell carcinoma(200;0.225)		4	818	+	all_cancers(62;1.63e-10)|all_epithelial(64;8.33e-10)|Breast(17;0.00311)|all_lung(186;0.0498)|Lung NSC(181;0.0676)		181					B2RE37|D6W5Q5|Q8N5Y5|Q99995|Q9H689	Missense_Mutation	SNP	ENST00000287957.3	37	c.541A>G	CCDS5625.1	.	.	.	.	.	.	.	.	.	.	A	35	5.414774	0.96092	.	.	ENSG00000157259	ENST00000287957	D	0.87334	-2.24	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	M	0.80183	2.485	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.94239	0.7483	10	0.87932	D	0	-24.0765	16.4114	0.83713	1.0:0.0:0.0:0.0	.	181	Q8WUU5	GATD1_HUMAN	E	181	ENSP00000287957:K181E	ENSP00000287957:K181E	K	+	1	0	GATAD1	91921857	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.137000	0.94496	2.276000	0.75962	0.529000	0.55759	AAG		0.443	GATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253929.2	NM_021167		28	55	0	0	0	1	0	28	55				
ADAMTS20	80070	broad.mit.edu	37	12	43846144	43846144	+	Missense_Mutation	SNP	T	T	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr12:43846144T>A	ENST00000389420.3	-	14	2011	c.2012A>T	c.(2011-2013)gAt>gTt	p.D671V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	671	Cys-rich.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCAACCATATCCTTCAATAG	0.338																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2011-2013)gAt>gTt		ADAM metallopeptidase with thrombospondin type 1 motif, 20							90.0	86.0	87.0					12																	43846144		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43846144T>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2012A>T	12.37:g.43846144T>A	ENSP00000374071:p.Asp671Val					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D671V	p.D671V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	14	2011	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	671			Cys-rich.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2012A>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114887	0.37339	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.69685	-0.42;0.25	4.96	3.8	0.43715	.	0.112860	0.38164	N	0.001796	T	0.70378	0.3217	M	0.73962	2.25	0.80722	D	1	P	0.38729	0.644	B	0.43478	0.421	T	0.73522	-0.3956	10	0.72032	D	0.01	.	12.5599	0.56275	0.0:0.0:0.1393:0.8607	.	671	P59510	ATS20_HUMAN	V	671	ENSP00000374071:D671V;ENSP00000448341:D671V	ENSP00000374068:D671V	D	-	2	0	ADAMTS20	42132411	1.000000	0.71417	0.154000	0.22540	0.005000	0.04900	5.869000	0.69613	0.978000	0.38470	-0.714000	0.03626	GAT		0.338	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		21	29	0	0	0	1	0	21	29				
PER1	5187	broad.mit.edu	37	17	8045151	8045151	+	Missense_Mutation	SNP	C	C	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:8045151C>G	ENST00000317276.4	-	22	3809	c.3572G>C	c.(3571-3573)gGc>gCc	p.G1191A	PER1_ENST00000581082.1_Missense_Mutation_p.G1168A|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1191	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCAGTTGGCCCTTCCGGAC	0.577			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3571-3573)gGc>gCc	Other conserved DNA damage response genes	period circadian clock 1							73.0	84.0	81.0					17																	8045151		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8045151C>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3572G>C	17.37:g.8045151C>G	ENSP00000314420:p.Gly1191Ala					PER1_ENST00000581082.1_Missense_Mutation_p.G1168A	p.G1191A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			22	3809	-			1191			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.3572G>C	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985233	0.93044	.	.	ENSG00000179094	ENST00000317276	T	0.15487	2.42	5.67	5.67	0.87782	Period circadian-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.25641	-1.0126	10	0.56958	D	0.05	-23.2837	17.2644	0.87081	0.0:1.0:0.0:0.0	.	1182;1191	A2I2P6;O15534	.;PER1_HUMAN	A	1191	ENSP00000314420:G1191A	ENSP00000314420:G1191A	G	-	2	0	PER1	7985876	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.697000	0.68295	2.697000	0.92050	0.655000	0.94253	GGC		0.577	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			5	111	0	0	0	1	0	5	111				
MED26	9441	broad.mit.edu	37	19	16687787	16687787	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr19:16687787G>A	ENST00000263390.3	-	3	1116	c.854C>T	c.(853-855)gCc>gTc	p.A285V	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A293V|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	285	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGCTGCCGGGCAAAGGAGCC	0.672																																						ENST00000263390.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						c.(853-855)gCc>gTc		mediator complex subunit 26							27.0	29.0	29.0					19																	16687787		2203	4300	6503	SO:0001583	missense	9441				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity	g.chr19:16687787G>A	AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.854C>T	19.37:g.16687787G>A	ENSP00000263390:p.Ala285Val					CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A293V	p.A285V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN			3	1116	-			285			Pro-rich.		A1A4S3|Q0VGB6	Missense_Mutation	SNP	ENST00000263390.3	37	c.854C>T	CCDS12347.1	.	.	.	.	.	.	.	.	.	.	G	6.140	0.394013	0.11638	.	.	ENSG00000105085	ENST00000263390	.	.	.	4.73	3.62	0.41486	.	0.703755	0.13521	N	0.381703	T	0.22859	0.0552	N	0.05383	-0.06	0.22771	N	0.998754	B	0.06786	0.001	B	0.10450	0.005	T	0.09228	-1.0684	9	0.28530	T	0.3	-17.3249	10.4452	0.44490	0.1366:0.0:0.8634:0.0	.	285	O95402	MED26_HUMAN	V	285	.	ENSP00000263390:A285V	A	-	2	0	MED26	16548787	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.449000	0.52950	2.189000	0.69895	0.549000	0.68633	GCC		0.672	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831		3	35	0	0	0	1	0	3	35				
ZNF496	84838	broad.mit.edu	37	1	247492595	247492595	+	Silent	SNP	G	G	T	rs533663170		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:247492595G>T	ENST00000294753.4	-	3	750	c.286C>A	c.(286-288)Cgg>Agg	p.R96R	ZNF496_ENST00000366498.2_Silent_p.R96R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	96	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGATCTCCCGGGGCAGGATG	0.697																																						ENST00000294753.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(286-288)Cgg>Agg		zinc finger protein 496							27.0	32.0	30.0					1																	247492595		2202	4299	6501	SO:0001819	synonymous_variant	84838				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:247492595G>T	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.286C>A	1.37:g.247492595G>T						ZNF496_ENST00000366498.2_Silent_p.R96R	p.R96R	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00703)		3	750	-	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		96			SCAN box.		Q8TBS2	Silent	SNP	ENST00000294753.4	37	c.286C>A	CCDS1631.1																																																																																				0.697	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2	NM_032752		5	44	1	0	0.00116845	1	0.00123336	5	44				
MYO5B	4645	broad.mit.edu	37	18	47488727	47488727	+	Missense_Mutation	SNP	C	C	G	rs375592664		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr18:47488727C>G	ENST00000285039.7	-	12	1753	c.1454G>C	c.(1453-1455)tGg>tCg	p.W485S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	485	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AATCAGGGTCCAAGGGATCTG	0.423																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1453-1455)tGg>tCg		myosin VB							161.0	149.0	153.0					18																	47488727		1889	4111	6000	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47488727C>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1454G>C	18.37:g.47488727C>G	ENSP00000285039:p.Trp485Ser						p.W485S	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	12	1753	-			485			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.1454G>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529974	0.85706	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.89485	-2.52	5.43	5.43	0.79202	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98149	1.0440	10	0.87932	D	0	.	18.8599	0.92267	0.0:1.0:0.0:0.0	.	484;485	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	S	485;484	ENSP00000285039:W485S	ENSP00000285039:W485S	W	-	2	0	MYO5B	45742725	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.533000	0.85409	0.561000	0.74099	TGG		0.423	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			10	50	0	0	0	1	0	10	50				
RANBP2	5903	broad.mit.edu	37	2	109371681	109371681	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:109371681T>G	ENST00000283195.6	+	17	2558	c.2432T>G	c.(2431-2433)cTg>cGg	p.L811R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	811					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.L811R(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATTCTTTACTGAAAATGATT	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	2	Substitution - Missense(2)	p.L811R(2)	kidney(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2431-2433)cTg>cGg		RAN binding protein 2							154.0	172.0	166.0					2																	109371681		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371681T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2432T>G	2.37:g.109371681T>G	ENSP00000283195:p.Leu811Arg						p.L811R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2558	+			811					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2432T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	t	18.76	3.693006	0.68271	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25579	1.79	5.8	5.8	0.92144	.	.	.	.	.	T	0.42494	0.1205	L	0.36672	1.1	0.35947	D	0.833639	D	0.89917	1.0	D	0.87578	0.998	T	0.50101	-0.8867	9	0.49607	T	0.09	-3.3039	16.1496	0.81605	0.0:0.0:0.0:1.0	.	811	P49792	RBP2_HUMAN	R	811	ENSP00000283195:L811R	ENSP00000283195:L811R	L	+	2	0	RANBP2	108738113	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.914000	0.75764	2.210000	0.71456	0.443000	0.29094	CTG		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	250	0	0	0	1	0	7	250				
PCNXL2	80003	broad.mit.edu	37	1	233363071	233363071	+	Missense_Mutation	SNP	C	C	T	rs183155622		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:233363071C>T	ENST00000258229.9	-	10	2639	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	802						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTTAAATTTTCCTTGTGTTGA	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		16570	0.001		0.0	False		,,,				2504	0.0					ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2404-2406)gGa>gAa		pecanex-like 2 (Drosophila)							93.0	88.0	90.0					1																	233363071		1835	4087	5922	SO:0001583	missense	80003					integral to membrane		g.chr1:233363071C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2405G>A	1.37:g.233363071C>T	ENSP00000258229:p.Gly802Glu					PCNXL2_ENST00000430153.1_Missense_Mutation_p.G101E	p.G802E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			10	2639	-		all_cancers(173;0.0347)|Prostate(94;0.137)	802					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.2405G>A	CCDS44335.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.70	1.422783	0.25639	.	.	ENSG00000135749	ENST00000258229;ENST00000430153	T;T	0.46063	0.88;0.88	5.13	3.21	0.36854	.	.	.	.	.	T	0.18257	0.0438	N	0.10916	0.065	0.26709	N	0.971005	P;B	0.38078	0.617;0.036	B;B	0.33960	0.173;0.008	T	0.07290	-1.0780	9	0.09084	T	0.74	.	7.2124	0.25941	0.1387:0.7112:0.0:0.1501	.	101;802	A6NKB5-2;A6NKB5	.;PCX2_HUMAN	E	802;101	ENSP00000258229:G802E;ENSP00000394703:G101E	ENSP00000258229:G802E	G	-	2	0	PCNXL2	231429694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.778000	0.47726	1.284000	0.44531	0.655000	0.94253	GGA		0.398	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	47	0	0	0	1	0	3	47				
SSPO	23145	broad.mit.edu	37	7	149510857	149510857	+	RNA	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:149510857G>A	ENST00000378016.2	+	0	10142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCGGGTGCTCGGCTGGCAAGG	0.672																																						ENST00000378016.2																			0													SCO-spondin							23.0	27.0	26.0					7																	149510857		2011	4155	6166			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149510857G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149510857G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	10142	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	40	0	0	0	1	0	4	40				
UHRF1BP1	54887	broad.mit.edu	37	6	34826576	34826576	+	Missense_Mutation	SNP	G	G	C			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:34826576G>C	ENST00000192788.5	+	14	2614	c.2443G>C	c.(2443-2445)Gat>Cat	p.D815H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	815							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGATGTAGCAGATGTTCATAT	0.507																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2443-2445)Gat>Cat		UHRF1 binding protein 1							153.0	148.0	149.0					6																	34826576		1985	4172	6157	SO:0001583	missense	54887							g.chr6:34826576G>C	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2443G>C	6.37:g.34826576G>C	ENSP00000192788:p.Asp815His					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.D815H	p.D815H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2614	+			815					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2443G>C	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.494993	0.44352	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.32988	1.43;1.43	5.7	4.84	0.62591	.	0.259357	0.40385	N	0.001113	T	0.26085	0.0636	M	0.64997	1.995	0.25456	N	0.987967	D	0.56521	0.976	P	0.48488	0.579	T	0.07770	-1.0755	10	0.72032	D	0.01	-4.1351	14.6497	0.68786	0.0696:0.0:0.9304:0.0	.	815	Q6BDS2	URFB1_HUMAN	H	815	ENSP00000192788:D815H;ENSP00000400628:D815H	ENSP00000192788:D815H	D	+	1	0	UHRF1BP1	34934554	0.978000	0.34361	0.010000	0.14722	0.723000	0.41478	3.176000	0.50863	1.422000	0.47177	-0.229000	0.12294	GAT		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		7	161	0	0	0	1	0	7	161				
TFAP2D	83741	broad.mit.edu	37	6	50696701	50696701	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:50696701T>G	ENST00000008391.3	+	4	959	c.731T>G	c.(730-732)cTc>cGc	p.L244R	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCTGAGTGCCTCAATGCTTCA	0.468																																						ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(730-732)cTc>cGc		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							98.0	97.0	98.0					6																	50696701		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50696701T>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.731T>G	6.37:g.50696701T>G	ENSP00000008391:p.Leu244Arg					TFAP2D_ENST00000492804.1_3'UTR	p.L244R	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			4	959	+	Lung NSC(77;0.0334)		244						Missense_Mutation	SNP	ENST00000008391.3	37	c.731T>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.723044	0.89298	.	.	ENSG00000008197	ENST00000008391	D	0.98567	-5.0	5.97	5.97	0.96955	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99174	1.0865	10	0.87932	D	0	-17.5463	16.4608	0.84044	0.0:0.0:0.0:1.0	.	244	Q7Z6R9	AP2D_HUMAN	R	244	ENSP00000008391:L244R	ENSP00000008391:L244R	L	+	2	0	TFAP2D	50804660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	CTC		0.468	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		20	61	0	0	0	1	0	20	61				
TENM3	55714	broad.mit.edu	37	4	183245322	183245322	+	Missense_Mutation	SNP	T	T	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:183245322T>A	ENST00000511685.1	+	2	272	c.149T>A	c.(148-150)tTt>tAt	p.F50Y	TENM3_ENST00000406950.2_Missense_Mutation_p.F50Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	50	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTGAAAGCTTTTGATCATGAT	0.507																																						ENST00000511685.1																			0											c.(148-150)tTt>tAt		teneurin transmembrane protein 3							139.0	139.0	139.0					4																	183245322		1955	4159	6114	SO:0001583	missense	55714							g.chr4:183245322T>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.149T>A	4.37:g.183245322T>A	ENSP00000424226:p.Phe50Tyr					TENM3_ENST00000406950.2_Missense_Mutation_p.F50Y	p.F50Y							2	272	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.149T>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	T	9.796	1.179116	0.21787	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.28454	1.61;1.61;1.61	5.65	5.65	0.86999	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.32010	0.0815	N	0.11845	0.185	0.41070	D	0.985449	B;D	0.53885	0.002;0.963	B;D	0.67231	0.01;0.95	T	0.05517	-1.0880	9	0.02654	T	1	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	50;50	D6RGC5;Q9P273	.;TEN3_HUMAN	Y	50	ENSP00000421320:F50Y;ENSP00000424226:F50Y;ENSP00000385276:F50Y	ENSP00000385276:F50Y	F	+	2	0	ODZ3	183482316	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.738000	0.68613	2.371000	0.80710	0.533000	0.62120	TTT		0.507	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	52	0	0	0	1	0	5	52				
TRIML1	339976	broad.mit.edu	37	4	189063419	189063419	+	Missense_Mutation	SNP	C	C	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr4:189063419C>A	ENST00000332517.3	+	3	658	c.518C>A	c.(517-519)aCt>aAt	p.T173N	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	173					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAAACAAAGACTTGTAAACAG	0.423																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(517-519)aCt>aAt		tripartite motif family-like 1							50.0	47.0	48.0					4																	189063419		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189063419C>A	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.518C>A	4.37:g.189063419C>A	ENSP00000327738:p.Thr173Asn					RP11-366H4.3_ENST00000501322.2_RNA	p.T173N	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	3	658	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	173					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.518C>A	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	C	0.086	-1.175269	0.01646	.	.	ENSG00000184108	ENST00000332517	T	0.04603	3.59	4.31	1.04	0.20106	.	0.590344	0.15327	N	0.268223	T	0.04137	0.0115	L	0.41632	1.29	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.42599	-0.9442	10	0.25106	T	0.35	-6.011	6.6576	0.22996	0.4524:0.3712:0.1764:0.0	.	173	Q8N9V2	TRIML_HUMAN	N	173	ENSP00000327738:T173N	ENSP00000327738:T173N	T	+	2	0	TRIML1	189300413	0.000000	0.05858	0.119000	0.21687	0.346000	0.29079	-1.028000	0.03589	0.169000	0.19679	0.650000	0.86243	ACT		0.423	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		8	12	1	0	1.12685e-05	1	1.22344e-05	8	12				
OFCC1	266553	broad.mit.edu	37	6	9933066	9933066	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr6:9933066G>A	ENST00000316020.6	-	4	396	c.397C>T	c.(397-399)Ccg>Tcg	p.P133S	OFCC1_ENST00000472329.1_5'UTR			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	65										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GTGCGATCCGGCATGTCGTGT	0.468																																						ENST00000316020.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11						c.(397-399)Ccg>Tcg		orofacial cleft 1 candidate 1							246.0	231.0	236.0					6																	9933066		2203	4300	6503	SO:0001583	missense	266553							g.chr6:9933066G>A	AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.397C>T	6.37:g.9933066G>A	ENSP00000325053:p.Pro133Ser					OFCC1_ENST00000472329.1_5'UTR	p.P133S							4	396	-	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)						Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	ENST00000316020.6	37	c.397C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.472|5.472	0.272073|0.272073	0.10349|0.10349	.|.	.|.	ENSG00000181355|ENSG00000181355	ENST00000492169|ENST00000460363;ENST00000316020;ENST00000491508	.|T;T	.|0.33654	.|1.4;1.4	5.84|5.84	3.01|3.01	0.34805|0.34805	.|.	.|1.752260	.|0.02916	.|N	.|0.137371	T|T	0.07279|0.07279	0.0184|0.0184	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.23185	.|0.081;0.033;0.012;0.081;0.003	.|B;B;B;B;B	.|0.18561	.|0.022;0.013;0.008;0.022;0.004	T|T	0.19647|0.19647	-1.0299|-1.0299	4|8	.|.	.|.	.|.	6.0475|6.0475	2.4487|2.4487	0.04512|0.04512	0.1395:0.1403:0.4603:0.2599|0.1395:0.1403:0.4603:0.2599	.|.	.|65;133;65;65;65	.|B7ZLI9;Q8IZS5-2;E9PHR2;Q8IZS5;Q8IZS5-3	.|.;.;.;OFCC1_HUMAN;.	V|S	47|65;133;133	.|ENSP00000325053:P133S;ENSP00000418251:P133S	.|.	A|P	-|-	2|1	0|0	OFCC1|OFCC1	10041052|10041052	0.923000|0.923000	0.31300|0.31300	0.000000|0.000000	0.03702|0.03702	0.311000|0.311000	0.27955|0.27955	2.420000|2.420000	0.44679|0.44679	0.334000|0.334000	0.23590|0.23590	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.468	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_153003		4	154	0	0	0	1	0	4	154				
IPO5	3843	broad.mit.edu	37	13	98658492	98658492	+	Missense_Mutation	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr13:98658492C>T	ENST00000490680.1	+	14	1671	c.1606C>T	c.(1606-1608)Cca>Tca	p.P536S	IPO5_ENST00000261574.5_Missense_Mutation_p.P554S|IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000539640.1_Missense_Mutation_p.P411S			O00410	IPO5_HUMAN	importin 5	536					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTTATTTATGCCATCACTGAA	0.408																																						ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1660-1662)Cca>Tca		importin 5							122.0	117.0	118.0					13																	98658492		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658492C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1606C>T	13.37:g.98658492C>T	ENSP00000418393:p.Pro536Ser					IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.P536S|IPO5_ENST00000539640.1_Missense_Mutation_p.P411S	p.P554S	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1840	+			536					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1660C>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.788017	0.90367	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.047441	0.85682	D	0.000000	D	0.85496	0.5710	M	0.90198	3.095	0.80722	D	1	D;D;D	0.58268	0.978;0.97;0.982	P;P;D	0.64595	0.901;0.768;0.927	D	0.88118	0.2830	10	0.59425	D	0.04	-0.788	14.7758	0.69732	0.1448:0.8552:0.0:0.0	.	411;536;554	B4E0R6;O00410;O00410-3	.;IPO5_HUMAN;.	S	554;536;536;411	ENSP00000261574:P554S;ENSP00000350219:P536S;ENSP00000418393:P536S;ENSP00000445126:P411S	ENSP00000261574:P554S	P	+	1	0	IPO5	97456493	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.955000	0.70306	2.375000	0.81037	0.460000	0.39030	CCA		0.408	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	117	0	0	0	1	0	4	117				
ANAPC7	51434	broad.mit.edu	37	12	110834213	110834213	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr12:110834213T>G	ENST00000455511.3	-	2	248	c.248A>C	c.(247-249)cAt>cCt	p.H83P	RP11-478C19.2_ENST00000550231.1_RNA|ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGAATCTGCATGATACACCAA	0.393																																						ENST00000455511.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						c.(247-249)cAt>cCt		anaphase promoting complex subunit 7							78.0	67.0	70.0					12																	110834213		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110834213T>G	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.248A>C	12.37:g.110834213T>G	ENSP00000394394:p.His83Pro					ANAPC7_ENST00000450008.2_Missense_Mutation_p.H83P|RP11-478C19.2_ENST00000550231.1_RNA	p.H83P	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN			2	248	-			83					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.248A>C	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192781	0.78902	.	.	ENSG00000196510	ENST00000455511;ENST00000450008	T;T	0.73681	1.2;-0.77	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81626	0.4862	L	0.43152	1.355	0.80722	D	1	D;P	0.69078	0.997;0.942	D;P	0.81914	0.995;0.487	T	0.80460	-0.1373	10	0.37606	T	0.19	0.121	16.2421	0.82418	0.0:0.0:0.0:1.0	.	83;83	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	P	83	ENSP00000394394:H83P;ENSP00000402314:H83P	ENSP00000402314:H83P	H	-	2	0	ANAPC7	109318596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.587000	0.82613	2.234000	0.73211	0.533000	0.62120	CAT		0.393	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		10	39	0	0	0	1	0	10	39				
FMN2	56776	broad.mit.edu	37	1	240370244	240370244	+	Missense_Mutation	SNP	T	T	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:240370244T>A	ENST00000319653.9	+	5	2362	c.2132T>A	c.(2131-2133)cTt>cAt	p.L711H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	711					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CATCAAGGGCTTGAGAATGGA	0.488																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2131-2133)cTt>cAt		formin 2							73.0	72.0	73.0					1																	240370244		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370244T>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2132T>A	1.37:g.240370244T>A	ENSP00000318884:p.Leu711His						p.L711H	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2362	+	Ovarian(103;0.127)	all_cancers(173;0.013)	711					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2132T>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	8.882	0.951953	0.18431	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.27402	1.67	5.12	-2.76	0.05896	.	1.496520	0.04061	N	0.306433	T	0.15696	0.0378	N	0.22421	0.69	0.09310	N	1	P	0.41748	0.761	B	0.34824	0.19	T	0.15694	-1.0428	10	0.20519	T	0.43	.	4.6947	0.12797	0.1116:0.4417:0.104:0.3428	.	711	Q9NZ56	FMN2_HUMAN	H	148;711	ENSP00000318884:L711H	ENSP00000318884:L711H	L	+	2	0	FMN2	238436867	0.858000	0.29795	0.000000	0.03702	0.010000	0.07245	0.274000	0.18680	-0.386000	0.07821	-0.290000	0.09829	CTT		0.488	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		7	44	0	0	0	1	0	7	44				
PHF6	84295	broad.mit.edu	37	X	133549219	133549219	+	Intron	SNP	C	C	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:133549219C>G	ENST00000332070.3	+	8	1036				PHF6_ENST00000394292.1_Intron|PHF6_ENST00000370800.4_Silent_p.P302P|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370803.3_Intron	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					GAGTACATCCCAAATTTATCC	0.284			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000370800.4				Rec	yes		X	Xq26.3	84295	"""F, N, Splice, Mis"""	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(904-906)ccC>ccG		PHD finger protein 6							78.0	77.0	77.0					X																	133549219		2203	4297	6500	SO:0001627	intron_variant	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133549219C>G	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.834+69C>G	X.37:g.133549219C>G						PHF6_ENST00000416404.2_Intron|PHF6_ENST00000370799.1_Intron|PHF6_ENST00000370803.3_Intron|PHF6_ENST00000332070.3_Intron|PHF6_ENST00000394292.1_Intron	p.P302P	NM_032335.3	NP_115711.2	Q8IWS0	PHF6_HUMAN			8	1047	+	Acute lymphoblastic leukemia(192;0.000127)		0					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Silent	SNP	ENST00000332070.3	37	c.906C>G	CCDS14639.1																																																																																				0.284	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458		6	157	0	0	0	1	0	6	157				
SDF2	6388	broad.mit.edu	37	17	26976014	26976014	+	Missense_Mutation	SNP	T	T	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:26976014T>G	ENST00000247020.4	-	3	927	c.629A>C	c.(628-630)gAg>gCg	p.E210A	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	210					protein glycosylation (GO:0006486)|protein O-linked mannosylation (GO:0035269)	extracellular space (GO:0005615)|membrane (GO:0016020)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					GATTCACAGCTCTGCATGGTG	0.527																																						ENST00000247020.4																			0				endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						c.(628-630)gAg>gCg		stromal cell-derived factor 2							107.0	97.0	101.0					17																	26976014		2203	4300	6503	SO:0001583	missense	6388				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity	g.chr17:26976014T>G	BC001406	CCDS11238.1	17q11.2	2004-02-16			ENSG00000132581	ENSG00000132581			10675	protein-coding gene	gene with protein product		602934				8918255	Standard	NR_045585		Approved		uc002hbw.3	Q99470	OTTHUMG00000132681	ENST00000247020.4:c.629A>C	17.37:g.26976014T>G	ENSP00000247020:p.Glu210Ala					SDF2_ENST00000592250.1_5'UTR	p.E210A	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN			3	927	-	Lung NSC(42;0.00431)		210					Q9BQ79	Missense_Mutation	SNP	ENST00000247020.4	37	c.629A>C	CCDS11238.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.605054	0.66445	.	.	ENSG00000132581	ENST00000247020	D	0.85955	-2.05	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93051	0.7788	M	0.91920	3.255	0.58432	D	0.999998	D	0.69078	0.997	P	0.60682	0.878	D	0.94105	0.7365	10	0.56958	D	0.05	-22.6344	16.216	0.82217	0.0:0.0:0.0:1.0	.	210	Q99470	SDF2_HUMAN	A	210	ENSP00000247020:E210A	ENSP00000247020:E210A	E	-	2	0	SDF2	24000141	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	6.578000	0.74032	2.284000	0.76573	0.524000	0.50904	GAG		0.527	SDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255965.2	NM_006923		6	76	0	0	0	1	0	6	76				
DOCK3	1795	broad.mit.edu	37	3	51393611	51393611	+	Silent	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr3:51393611C>T	ENST00000266037.9	+	42	4364	c.4341C>T	c.(4339-4341)cgC>cgT	p.R1447R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTTCTATCGCGTCAACAATG	0.483																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4339-4341)cgC>cgT		dedicator of cytokinesis 3							132.0	125.0	127.0					3																	51393611		1954	4160	6114	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51393611C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4341C>T	3.37:g.51393611C>T							p.R1447R	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	42	4364	+			1447			DHR-2.		O15017	Silent	SNP	ENST00000266037.9	37	c.4341C>T	CCDS46835.1																																																																																				0.483	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		4	50	0	0	0	1	0	4	50				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							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		4	48	0	0	0	1	0	4	48				
HRC	3270	broad.mit.edu	37	19	49656694	49656694	+	Missense_Mutation	SNP	A	A	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr19:49656694A>G	ENST00000252825.4	-	1	1987	c.1801T>C	c.(1801-1803)Tcc>Ccc	p.S601P	HRC_ENST00000595625.1_Missense_Mutation_p.S601P	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	601					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTCGCTGGAGGCACCTCCA	0.642																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1801-1803)Tcc>Ccc		histidine rich calcium binding protein							63.0	55.0	57.0					19																	49656694		2203	4300	6503	SO:0001583	missense	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656694A>G		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1801T>C	19.37:g.49656694A>G	ENSP00000252825:p.Ser601Pro					HRC_ENST00000595625.1_Missense_Mutation_p.S601P	p.S601P	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	1987	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	601					Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	c.1801T>C	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.313482	0.23908	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.52057	0.68	2.87	1.77	0.24775	.	.	.	.	.	T	0.51719	0.1691	L	0.60455	1.87	0.18873	N	0.999982	D	0.65815	0.995	P	0.56278	0.795	T	0.34775	-0.9815	9	0.30078	T	0.28	-2.3818	5.7431	0.18104	0.7202:0.2798:0.0:0.0	.	601	P23327	SRCH_HUMAN	P	601;291	ENSP00000252825:S601P	ENSP00000252825:S601P	S	-	1	0	HRC	54348506	0.738000	0.28186	0.434000	0.26772	0.187000	0.23431	1.062000	0.30555	0.462000	0.27095	0.460000	0.39030	TCC		0.642	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		9	18	0	0	0	1	0	9	18				
AGTPBP1	23287	broad.mit.edu	37	9	88248216	88248216	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr9:88248216G>A	ENST00000357081.3	-	14	1520	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P419L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	459					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCTGCCGTAGGAACAACAAT	0.358																																						ENST00000357081.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(1375-1377)cCt>cTt		ATP/GTP binding protein 1							57.0	60.0	59.0					9																	88248216		2185	4255	6440	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88248216G>A	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.1376C>T	9.37:g.88248216G>A	ENSP00000349592:p.Pro459Leu					AGTPBP1_ENST00000376083.3_Missense_Mutation_p.P419L|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.P297L|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.P471L	p.P459L			Q9UPW5	CBPC1_HUMAN			14	1520	-			459					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.1376C>T		.	.	.	.	.	.	.	.	.	.	G	19.99	3.928121	0.73327	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.59364	1.82;1.8;1.74;0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.999;0.998;1.0;0.973	T	0.72818	-0.4178	10	0.48119	T	0.1	-15.8208	20.6439	0.99570	0.0:0.0:1.0:0.0	.	471;459;297;419	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	L	459;419;471;297	ENSP00000349592:P459L;ENSP00000365251:P419L;ENSP00000365277:P471L;ENSP00000402804:P297L	ENSP00000349592:P459L	P	-	2	0	AGTPBP1	87438036	1.000000	0.71417	0.986000	0.45419	0.584000	0.36387	7.159000	0.77483	2.890000	0.99128	0.650000	0.86243	CCT		0.358	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		8	93	0	0	0	1	0	8	93				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162326	33162326	+	lincRNA	SNP	C	C	T			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr5:33162326C>T	ENST00000510327.1	-	0	346																											GCCGCAAAACCGGGGGCAAGA	0.567																																						ENST00000510327.1																			0																																																			0							g.chr5:33162326C>T																													5.37:g.33162326C>T														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.567	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			4	32	0	0	0	1	0	4	32				
MAGEE1	57692	broad.mit.edu	37	X	75651040	75651040	+	Missense_Mutation	SNP	G	G	A			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:75651040G>A	ENST00000361470.2	+	1	2995	c.2717G>A	c.(2716-2718)cGt>cAt	p.R906H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	906	Interaction with DTNA. {ECO:0000250}.|MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTAGAGCCCGTTTGGAAACC	0.483																																						ENST00000361470.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(2716-2718)cGt>cAt		melanoma antigen family E, 1							79.0	74.0	76.0					X																	75651040		2203	4300	6503	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75651040G>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.2717G>A	X.37:g.75651040G>A	ENSP00000354912:p.Arg906His						p.R906H	NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN			1	2995	+			906			Interaction with DTNA (By similarity).|MAGE 2.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.2717G>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	.	6.759	0.508865	0.12883	.	.	ENSG00000198934	ENST00000361470	T	0.04603	3.59	2.21	2.21	0.28008	.	.	.	.	.	T	0.02688	0.0081	N	0.00280	-1.71	0.26582	N	0.973364	D	0.89917	1.0	D	0.69307	0.963	T	0.47045	-0.9147	9	0.13470	T	0.59	.	7.167	0.25695	0.0:0.0:1.0:0.0	.	906	Q9HCI5	MAGE1_HUMAN	H	906	ENSP00000354912:R906H	ENSP00000354912:R906H	R	+	2	0	MAGEE1	75567444	0.937000	0.31787	0.918000	0.36340	0.951000	0.60555	0.550000	0.23345	1.380000	0.46344	0.529000	0.55759	CGT		0.483	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		4	81	0	0	0	1	0	4	81				
TRBV5-4	28611	broad.mit.edu	37	7	142168912	142168912	+	RNA	SNP	A	A	G			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr7:142168912A>G	ENST00000454561.2	-	0	133									T cell receptor beta variable 5-4																		AGCCGAGTGAATTCTGGGCCT	0.582																																						ENST00000454561.2																			0																				13.0	18.0	17.0					7																	142168912		692	1591	2283			28611							g.chr7:142168912A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168912A>G														0	133	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.582	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		3	8	0	0	0	1	0	3	8				
KRTAP1-1	81851	broad.mit.edu	37	17	39197549	39197549	+	Missense_Mutation	SNP	G	G	C			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:39197549G>C	ENST00000306271.4	-	1	164	c.101C>G	c.(100-102)tCc>tGc	p.S34C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	34			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)		p.S34C(6)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCTGGCAGGAGCTGGTCTC	0.612																																						ENST00000306271.4																			6	Substitution - Missense(6)	p.S34C(6)	kidney(4)|lung(1)|prostate(1)	NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14						c.(100-102)tCc>tGc		keratin associated protein 1-1							49.0	62.0	58.0					17																	39197549		2018	4199	6217	SO:0001583	missense	81851					extracellular region|keratin filament		g.chr17:39197549G>C	AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.101C>G	17.37:g.39197549G>C	ENSP00000305975:p.Ser34Cys						p.S34C	NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	164	-		Breast(137;0.000496)	34		Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	c.101C>G	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	G	0.085	-1.176298	0.01646	.	.	ENSG00000188581	ENST00000306271	T	0.16196	2.36	3.91	1.65	0.23941	.	.	.	.	.	T	0.01835	0.0058	N	0.00010	-3.04	0.22552	N	0.998996	B	0.02656	0.0	B	0.01281	0.0	T	0.40924	-0.9537	9	0.02654	T	1	.	7.8006	0.29172	0.1777:0.6415:0.1808:0.0	.	34	Q07627	KRA11_HUMAN	C	34	ENSP00000305975:S34C	ENSP00000305975:S34C	S	-	2	0	KRTAP1-1	36451075	1.000000	0.71417	0.987000	0.45799	0.816000	0.46133	1.227000	0.32576	0.919000	0.36945	-0.233000	0.12211	TCC		0.612	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967		4	58	0	0	0	1	0	4	58				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	25	0	0	0	1	0	3	25				
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	lincRNA	DEL	AG	AG	-	rs373568877		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.5																																						ENST00000432922.1																			0																																																			0							g.chr1:38562824_38562825delAG																													1.37:g.38562834_38562835delAG														0	301	+									RNA	DEL	ENST00000432922.1	37																																																																																						0.500	RP5-884C9.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000001201.1			4	3						4	3	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-	rs566726868	byFrequency	TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													|||unknown(HR)	1834	0.366214	0.3752	0.3977	5008	,	,		31479	0.3988		0.335	False		,,,				2504	0.3303					ENST00000436174.1																			0																																																			0							g.chr2:91899626delA																													2.37:g.91899626delA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.289	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			3	6						3	6	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113146539	113146541	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr2:113146539_113146541delTCT	ENST00000302558.3	-	20	4172_4174	c.3981_3983delAGA	c.(3979-3984)gaagag>gag	p.1327_1328EE>E	RGPD8_ENST00000409750.1_In_Frame_Del_p.1187_1188EE>E	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1327					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TCCATCTCTCTCTTCTTCTTGAG	0.404																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(3979-3984)gag>ga		RANBP2-like and GRIP domain containing 8																																				SO:0001651	inframe_deletion	727851							g.chr2:113146539_113146541delTCT	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3981_3983delAGA	2.37:g.113146545_113146547delTCT	ENSP00000306637:p.Glu1328del					RGPD8_ENST00000409750.1_In_Frame_Del_p.EE1187del	p.EE1327del	NM_001164463.1	NP_001157935.1					20	4172_4174	-								Q5CZA8	In_Frame_Del	DEL	ENST00000302558.3	37	c.3981_3983delAGA	CCDS46394.1																																																																																				0.404	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		2	4						2	4	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100874100	100874100	+	Frame_Shift_Del	DEL	G	G	-	rs386834060		TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr8:100874100delG	ENST00000358544.2	+	58	11327	c.11216delG	c.(11215-11217)tggfs	p.W3739fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.W3714fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3739					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGAGGAGTGGCGGCGGCAG	0.672																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	GRCh37	CM041282	VPS13B	M		c.(11215-11217)tgfs		vacuolar protein sorting 13 homolog B (yeast)							32.0	23.0	26.0					8																	100874100		2192	4297	6489	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100874100delG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11216delG	8.37:g.100874100delG	ENSP00000351346:p.Trp3739fs					VPS13B_ENST00000357162.2_Frame_Shift_Del_p.W3714fs|VPS13B_ENST00000395996.1_3'UTR	p.W3739fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		58	11327	+	Breast(36;3.73e-07)		3739					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.11216delG	CCDS6280.1																																																																																				0.672	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		2	4						2	4	---	---	---	---
LINC01500	102723742	broad.mit.edu	37	14	59295080	59295080	+	lincRNA	DEL	G	G	-			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr14:59295080delG	ENST00000553762.1	+	0	129																											CCATGCTTCCGGGGAGCTCCT	0.577																																						ENST00000553762.1																			0																																																			102723742							g.chr14:59295080delG																													14.37:g.59295080delG														0	129	+									RNA	DEL	ENST00000553762.1	37																																																																																						0.577	RP11-112J1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000411630.1			2	4						2	4	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCGGCG	rs61991619|rs371633333	byFrequency	TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chr14:77493647_77493648insGCGGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGCCGC	c.(487-489)gct>gcCGCCGCt	p.163_163A>AAA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCGGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.483_488dupCGCCGC	14.37:g.77493648_77493653dupGCGGCG	ENSP00000238647:p.AlaAla163dup						p.163_163G>APR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGCCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		4	3						4	3	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123215265	123215265	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P7-A5NX-01A-11D-A35D-08	TCGA-P7-A5NX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10a03f37-2061-4bdd-9482-386663368479	bde6ff6a-cdff-4b0e-8e92-c87aa8962ed6	g.chrX:123215265delT	ENST00000371160.1	+	28	3101	c.2811delT	c.(2809-2811)aatfs	p.N937fs	STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.N937fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	937					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATGGCTATAATTTTGATAGAT	0.308																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2809-2811)aafs		stromal antigen 2							86.0	82.0	83.0					X																	123215265		2202	4299	6501	SO:0001589	frameshift_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123215265delT	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2811delT	X.37:g.123215265delT	ENSP00000360202:p.Asn937fs					STAG2_ENST00000371145.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.N937fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.N868fs|STAG2_ENST00000218089.9_Frame_Shift_Del_p.N937fs|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Frame_Shift_Del_p.N937fs	p.N937fs			Q8N3U4	STAG2_HUMAN			28	3101	+			937					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Frame_Shift_Del	DEL	ENST00000371160.1	37	c.2811delT	CCDS14607.1																																																																																				0.308	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		31	62						31	62	---	---	---	---
