#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
AKAP6	9472	broad.mit.edu	37	14	33165315	33165315	+	Splice_Site	SNP	A	A	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr14:33165315A>C	ENST00000280979.4	+	9	3169	c.2999A>C	c.(2998-3000)aAg>aCg	p.K1000T	AKAP6_ENST00000557354.1_Splice_Site_p.K1000T|AKAP6_ENST00000557272.1_Splice_Site_p.K1000T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1000					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATCTTTACAAGGTTAGAGCT	0.478																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.e9+1		A kinase (PRKA) anchor protein 6							134.0	108.0	117.0					14																	33165315		2203	4300	6503	SO:0001630	splice_region_variant	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33165315A>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3000+1A>C	14.37:g.33165315A>C						AKAP6_ENST00000557272.1_Splice_Site_p.K1000_splice|AKAP6_ENST00000557354.1_Splice_Site_p.K1000_splice	p.K1000_splice	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	9	3169	+	Breast(36;0.0388)|Prostate(35;0.15)		1000					A7E242|A7E2D4|O15028	Splice_Site	SNP	ENST00000280979.4	37	c.3000_splice	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	17.82	3.482364	0.63962	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.38887	2.67;1.11;1.44	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.50820	0.1638	N	0.24115	0.695	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.55692	-0.8101	10	0.62326	D	0.03	-17.3137	15.1219	0.72450	1.0:0.0:0.0:0.0	.	1000;1000	A7E242;Q13023	.;AKAP6_HUMAN	T	1000	ENSP00000280979:K1000T;ENSP00000450531:K1000T;ENSP00000451247:K1000T	ENSP00000280979:K1000T	K	+	2	0	AKAP6	32235066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.829000	0.92055	1.980000	0.57719	0.528000	0.53228	AAG		0.478	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	Missense_Mutation	3	36	0	0	0	0.150653	0	3	36				
ZBTB20	26137	broad.mit.edu	37	3	114057857	114057857	+	Missense_Mutation	SNP	C	C	T	rs150263896		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:114057857C>T	ENST00000474710.1	-	5	2399	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	ZBTB20_ENST00000464560.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G668R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G668R|ZBTB20_ENST00000462705.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G668R	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	741						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACTACTTATCCGTCAGACACA	0.413																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(2002-2004)Gga>Aga		zinc finger and BTB domain containing 20		C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	74.0	74.0	74.0		2221,2002,2002,2002,2002,2002,2002	5.9	1.0	3	dbSNP_134	74	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	ZBTB20	NM_001164342.1,NM_001164343.1,NM_001164344.1,NM_001164345.1,NM_001164346.1,NM_001164347.1,NM_015642.4	125,125,125,125,125,125,125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	741/742,668/669,668/669,668/669,668/669,668/669,668/669	114057857	1,13005	2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114057857C>T	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2221G>A	3.37:g.114057857C>T	ENSP00000419153:p.Gly741Arg					ZBTB20_ENST00000357258.3_Missense_Mutation_p.G668R|ZBTB20_ENST00000481632.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G741R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G668R	p.G668R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	12	2823	-			741					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.2002G>A	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480029	0.63849	2.27E-4	0.0	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.31769	1.73;1.73;1.73;1.73;1.48;1.73;1.73	5.87	5.87	0.94306	Zinc finger, C2H2 (1);	0.113284	0.64402	D	0.000010	T	0.29976	0.0750	N	0.00890	-1.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64499	-0.6393	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	741	Q9HC78	ZBT20_HUMAN	R	668;668;668;668;741;668;668	ENSP00000420324:G668R;ENSP00000377375:G668R;ENSP00000418092:G668R;ENSP00000419902:G668R;ENSP00000419153:G741R;ENSP00000349803:G668R;ENSP00000417307:G668R	ENSP00000349803:G668R	G	-	1	0	ZBTB20	115540547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.568000	0.82369	2.941000	0.99782	0.655000	0.94253	GGA		0.413	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	NM_015642		28	35	0	0	0	0.740014	0	28	35				
CHAF1B	8208	broad.mit.edu	37	21	37787682	37787682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:37787682A>G	ENST00000314103.5	+	13	1734	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	528					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAGAAATTCAGTCAGGTAAG	0.343																																						ENST00000314103.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						c.(1582-1584)cAg>cGg		chromatin assembly factor 1, subunit B (p60)							95.0	96.0	96.0					21																	37787682		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37787682A>G	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1583A>G	21.37:g.37787682A>G	ENSP00000315700:p.Gln528Arg						p.Q528R	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN			13	1734	+			528					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1583A>G	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	A	9.047	0.991020	0.18966	.	.	ENSG00000159259	ENST00000314103	T	0.50277	0.75	5.42	2.94	0.34122	.	1.469870	0.03667	N	0.243377	T	0.38931	0.1059	L	0.29908	0.895	0.09310	N	1	B	0.23650	0.089	B	0.22601	0.04	T	0.25502	-1.0130	10	0.23302	T	0.38	-0.5542	9.4342	0.38628	0.7159:0.0:0.0:0.2841	.	528	Q13112	CAF1B_HUMAN	R	528	ENSP00000315700:Q528R	ENSP00000315700:Q528R	Q	+	2	0	CHAF1B	36709552	0.000000	0.05858	0.001000	0.08648	0.508000	0.34012	0.435000	0.21510	0.315000	0.23110	0.533000	0.62120	CAG		0.343	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		3	89	0	0	0	0.115264	0	3	89				
TAS2R9	50835	broad.mit.edu	37	12	10961751	10961751	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr12:10961751C>G	ENST00000240691.2	-	1	1016	c.924G>C	c.(922-924)aaG>aaC	p.K308N	TAS2R8_ENST00000240615.2_5'Flank	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	308					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	taste receptor activity (GO:0008527)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACAAAAGGCTTTCTTCTTC	0.368																																						ENST00000240691.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(922-924)aaG>aaC		taste receptor, type 2, member 9							50.0	52.0	51.0					12																	10961751		2203	4300	6503	SO:0001583	missense	50835				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10961751C>G	AF227135	CCDS8633.1	12p13	2012-08-22			ENSG00000121381	ENSG00000121381		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14917	protein-coding gene	gene with protein product		604795				10761934, 10766242	Standard	NM_023917		Approved	T2R9, TRB6	uc001qyx.3	Q9NYW1	OTTHUMG00000168507	ENST00000240691.2:c.924G>C	12.37:g.10961751C>G	ENSP00000240691:p.Lys308Asn						p.K308N	NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN			1	1016	-			308					Q502V7|Q50KT0|Q50KT1|Q645W9	Missense_Mutation	SNP	ENST00000240691.2	37	c.924G>C	CCDS8633.1	.	.	.	.	.	.	.	.	.	.	C	9.840	1.190712	0.21954	.	.	ENSG00000121381	ENST00000240691	T	0.00873	5.59	3.72	-1.73	0.08081	.	0.858344	0.09405	U	0.806696	T	0.00552	0.0018	N	0.14661	0.345	0.09310	N	1	B	0.19445	0.036	B	0.15052	0.012	T	0.46456	-0.9190	10	0.12766	T	0.61	.	1.8977	0.03261	0.1579:0.3205:0.363:0.1586	.	308	Q9NYW1	TA2R9_HUMAN	N	308	ENSP00000240691:K308N	ENSP00000240691:K308N	K	-	3	2	TAS2R9	10853018	0.000000	0.05858	0.000000	0.03702	0.335000	0.28730	-0.831000	0.04405	-0.071000	0.12886	0.557000	0.71058	AAG		0.368	TAS2R9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399933.1			22	67	0	0	0	0.608945	0	22	67				
MUC4	4585	broad.mit.edu	37	3	195516420	195516420	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:195516420C>T	ENST00000463781.3	-	2	2490	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	MUC4_ENST00000475231.1_Silent_p.S677S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	682					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTCTGAGGGCGAGTGCCCAC	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2029-2031)tcG>tcA		mucin 4, cell surface associated							110.0	122.0	118.0					3																	195516420		2069	4208	6277	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516420C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2031G>A	3.37:g.195516420C>T						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S677S	p.S677S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2490	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	682					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2031G>A	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		26	32	0	0	0	0.717897	0	26	32				
OLFM2	93145	broad.mit.edu	37	19	9965171	9965171	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P|AC008752.3_ENST00000582439.1_RNA	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642																																						ENST00000264833.4																			1	Substitution - coding silent(1)	p.P352P(1)	lung(1)	breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						c.(1054-1056)ccG>ccA		olfactomedin 2							71.0	67.0	69.0					19																	9965171		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9965171C>T	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.1056G>A	19.37:g.9965171C>T						OLFM2_ENST00000590841.1_Silent_p.P274P	p.P352P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN			6	1241	-			352			Olfactomedin-like.		Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.1056G>A	CCDS12221.1																																																																																				0.642	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			3	42	0	0	0	0.115264	0	3	42				
IFITM5	387733	broad.mit.edu	37	11	298552	298552	+	Silent	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:298552C>T	ENST00000382614.2	-	2	383	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	116					bone mineralization (GO:0030282)|regulation of bone mineralization (GO:0030500)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCAGAGTCCTTGGCCAGCC	0.642																																						ENST00000382614.2																			0				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(346-348)aaG>aaA		interferon induced transmembrane protein 5							46.0	44.0	45.0					11																	298552		2203	4300	6503	SO:0001819	synonymous_variant	387733				multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane		g.chr11:298552C>T	AA463818, CR747200, DY654432	CCDS31323.1	11p15.5	2010-05-12			ENSG00000206013	ENSG00000206013			16644	protein-coding gene	gene with protein product		614757				11106657, 12659663, 18442316	Standard	NM_001025295		Approved	fragilis4, Hrmp1, BRIL	uc001low.2	A6NNB3	OTTHUMG00000165355	ENST00000382614.2:c.348G>A	11.37:g.298552C>T							p.K116K	NM_001025295.1	NP_001020466.1	A6NNB3	IFM5_HUMAN		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	383	-		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	116						Silent	SNP	ENST00000382614.2	37	c.348G>A	CCDS31323.1																																																																																				0.642	IFITM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383588.1	NM_001025295		3	7	0	0	0	0.115264	0	3	7				
TP53	7157	broad.mit.edu	37	17	7577518	7577518	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577518T>A	ENST00000269305.4	-	7	952	c.763A>T	c.(763-765)Atc>Ttc	p.I255F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.I255F|TP53_ENST00000445888.2_Missense_Mutation_p.I255F|TP53_ENST00000413465.2_Missense_Mutation_p.I255F|TP53_ENST00000359597.4_Missense_Mutation_p.I255F|TP53_ENST00000455263.2_Missense_Mutation_p.I255F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I255F(20)|p.0?(8)|p.I255del(7)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.I255fs*90(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCAGTGTGATGATGGTGAGG	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		49	Substitution - Missense(23)|Deletion - In frame(11)|Whole gene deletion(8)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Unknown(1)	p.I255F(20)|p.0?(8)|p.I255del(7)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.I255fs*90(1)	oesophagus(10)|large_intestine(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(5)|breast(4)|lung(4)|bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|pancreas(2)|stomach(1)|soft_tissue(1)|liver(1)|urinary_tract(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(763-765)Atc>Ttc	Other conserved DNA damage response genes	tumor protein p53							146.0	105.0	119.0					17																	7577518		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577518T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.763A>T	17.37:g.7577518T>A	ENSP00000269305:p.Ile255Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.I255F|TP53_ENST00000445888.2_Missense_Mutation_p.I255F|TP53_ENST00000269305.4_Missense_Mutation_p.I255F|TP53_ENST00000359597.4_Missense_Mutation_p.I255F|TP53_ENST00000413465.2_Missense_Mutation_p.I255F	p.I255F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	255		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.763A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	10.72	1.428650	0.25726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99737	-6.59;-6.59;-6.59;-6.59;-6.59;-6.59;-6.59	4.62	3.53	0.40419	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058771	0.64402	D	0.000004	D	0.98921	0.9634	N	0.12746	0.255	0.58432	D	0.999992	D;B;D;D;D	0.89917	0.999;0.056;0.997;0.999;1.0	D;B;D;D;D	0.81914	0.989;0.068;0.988;0.995;0.994	D	0.98395	1.0565	10	0.87932	D	0	-21.9257	8.6786	0.34194	0.0:0.0922:0.0:0.9078	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	F	255;255;255;255;255;255;244;123	ENSP00000410739:I255F;ENSP00000352610:I255F;ENSP00000269305:I255F;ENSP00000398846:I255F;ENSP00000391127:I255F;ENSP00000391478:I255F;ENSP00000425104:I123F	ENSP00000269305:I255F	I	-	1	0	TP53	7518243	0.995000	0.38212	0.999000	0.59377	0.384000	0.30261	0.399000	0.20916	0.900000	0.36469	0.379000	0.24179	ATC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	15	0	0	0	0.520397	0	16	15				
SMCR8	140775	broad.mit.edu	37	17	18219589	18219589	+	Silent	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:18219589G>A	ENST00000406438.3	+	1	966	c.486G>A	c.(484-486)caG>caA	p.Q162Q	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	162						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGCAGACCAGCATAAAATCA	0.527																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(484-486)caG>caA		Smith-Magenis syndrome chromosome region, candidate 8							55.0	58.0	57.0					17																	18219589		2203	4300	6503	SO:0001819	synonymous_variant	140775							g.chr17:18219589G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.486G>A	17.37:g.18219589G>A							p.Q162Q	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	966	+			162					A5PKZ5|Q3ZCN0|Q6PJL3	Silent	SNP	ENST00000406438.3	37	c.486G>A	CCDS11195.2																																																																																				0.527	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		3	50	0	0	0	0.115264	0	3	50				
ARHGEF28	64283	broad.mit.edu	37	5	73072373	73072373	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:73072373G>A	ENST00000426542.2	+	5	712	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R231Q|CTC-575I10.1_ENST00000506717.1_RNA			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	231					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										AGCTTCTCCCGAGTGCAGCTC	0.522																																						ENST00000545377.1																			0											c.(691-693)cGa>cAa		Rho guanine nucleotide exchange factor (GEF) 28							83.0	89.0	87.0					5																	73072373		2095	4225	6320	SO:0001583	missense	64283							g.chr5:73072373G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.692G>A	5.37:g.73072373G>A	ENSP00000412175:p.Arg231Gln					ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R231Q|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R231Q	p.R231Q	NM_001080479.2	NP_001073948.2					6	868	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.692G>A	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665619	0.47677	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.09538	3.21;3.2;3.2;2.97;3.2;3.2	5.15	5.15	0.70609	.	.	.	.	.	T	0.28034	0.0691	M	0.65975	2.015	0.25370	N	0.9887	P;P;D;P	0.89917	0.846;0.703;1.0;0.803	B;B;D;B	0.66847	0.115;0.048;0.947;0.104	T	0.06303	-1.0834	9	0.35671	T	0.21	.	11.644	0.51250	0.0826:0.0:0.9174:0.0	.	231;231;231;231	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	Q	231	ENSP00000296794:R231Q;ENSP00000441913:R231Q;ENSP00000441436:R231Q;ENSP00000287898:R231Q;ENSP00000411459:R231Q;ENSP00000412175:R231Q	ENSP00000287898:R231Q	R	+	2	0	RP11-428C6.1	73108129	0.961000	0.32948	0.980000	0.43619	0.758000	0.43043	3.330000	0.52068	2.559000	0.86315	0.655000	0.94253	CGA		0.522	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			41	40	0	0	0	0.834066	0	41	40				
CCIN	881	broad.mit.edu	37	9	36170748	36170748	+	Missense_Mutation	SNP	G	G	A	rs201803632		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr9:36170748G>A	ENST00000335119.2	+	1	1360	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	417					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGATGGCACCGCCGTGATCAC	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		21883	0.001		0.0	False		,,,				2504	0.0					ENST00000335119.2																			0				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21						c.(1249-1251)Gcc>Acc		calicin							152.0	110.0	124.0					9																	36170748		2203	4300	6503	SO:0001583	missense	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36170748G>A	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1249G>A	9.37:g.36170748G>A	ENSP00000334996:p.Ala417Thr						p.A417T	NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	1360	+			417					Q9BXG7	Missense_Mutation	SNP	ENST00000335119.2	37	c.1249G>A	CCDS6599.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.26	1.300485	0.23650	.	.	ENSG00000185972	ENST00000335119	T	0.67698	-0.28	5.73	4.84	0.62591	Kelch-type beta propeller (1);	0.112722	0.39615	N	0.001318	T	0.70081	0.3183	L	0.27053	0.805	0.24018	N	0.996155	D	0.89917	1.0	D	0.81914	0.995	T	0.62821	-0.6773	10	0.66056	D	0.02	.	10.975	0.47461	0.0861:0.0:0.9139:0.0	.	417	Q13939	CALI_HUMAN	T	417	ENSP00000334996:A417T	ENSP00000334996:A417T	A	+	1	0	CCIN	36160748	0.785000	0.28726	0.198000	0.23420	0.194000	0.23727	4.196000	0.58407	1.432000	0.47375	-0.333000	0.08304	GCC		0.537	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		4	44	0	0	0	0.184627	0	4	44				
BAGE2	85319	broad.mit.edu	37	21	11098763	11098763	+	RNA	SNP	C	C	A	rs73891538	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:11098763C>A	ENST00000470054.1	-	0	162							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccactcctaccgctcaggccg	0.622																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							91.0	130.0	117.0					21																	11098763		2130	4268	6398			85319							g.chr21:11098763C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098763C>A												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	162	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.622	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	26	1	0	6.40141e-05	0.387290	7.02594e-05	11	26				
ATRX	546	broad.mit.edu	37	X	76874371	76874371	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874371A>C	ENST00000373344.5	-	21	5565	c.5351T>G	c.(5350-5352)aTt>aGt	p.I1784S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I1746S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1784					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						ACCATTTTGAATTGGATTTAT	0.343			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5350-5352)aTt>aGt		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						102.0	88.0	93.0					X																	76874371		2203	4295	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874371A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5351T>G	X.37:g.76874371A>C	ENSP00000362441:p.Ile1784Ser					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I1746S	p.I1784S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5565	-			1784					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5351T>G	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.229749|4.229749	0.79688|0.79688	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.94457	.|-3.43;-3.43	5.5|5.5	5.5|5.5	0.81552|0.81552	.|SNF2-related (1);	.|0.000000	.|0.85682	.|U	.|0.000000	D|D	0.97430|0.97430	0.9159|0.9159	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.994;0.999	D|D	0.98171|0.98171	1.0452|1.0452	5|10	.|0.87932	.|D	.|0	-4.1052|-4.1052	14.5783|14.5783	0.68265|0.68265	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1746;1784	.|P46100-4;P46100	.|.;ATRX_HUMAN	V|S	73|1784;1746	.|ENSP00000362441:I1784S;ENSP00000378967:I1746S	.|ENSP00000362441:I1784S	F|I	-|-	1|2	0|0	ATRX|ATRX	76761027|76761027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	8.927000|8.927000	0.92846|0.92846	1.823000|1.823000	0.53134|0.53134	0.486000|0.486000	0.48141|0.48141	TTC|ATT		0.343	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		36	64	0	0	0	0.796494	0	36	64				
COL12A1	1303	broad.mit.edu	37	6	75887610	75887610	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:75887610T>C	ENST00000322507.8	-	12	2515	c.2206A>G	c.(2206-2208)Aca>Gca	p.T736A	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T736A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T736A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	736	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACTATCTGTAGTCTCATCT	0.343																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2206-2208)Aca>Gca		collagen, type XII, alpha 1							114.0	110.0	111.0					6																	75887610		1820	4092	5912	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75887610T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2206A>G	6.37:g.75887610T>C	ENSP00000325146:p.Thr736Ala					COL12A1_ENST00000416123.2_Missense_Mutation_p.T736A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.T736A	p.T736A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			12	2515	-			736			Fibronectin type-III 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2206A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452288	0.26074	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56103	0.48;0.48;0.48	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.27313	0.0670	L	0.28504	0.86	0.36573	D	0.873109	B;B	0.30793	0.295;0.295	B;B	0.28232	0.087;0.087	T	0.13710	-1.0499	10	0.30854	T	0.27	.	16.2631	0.82557	0.0:0.0:0.0:1.0	.	736;736	D6RGG3;Q99715	.;COCA1_HUMAN	A	736	ENSP00000325146:T736A;ENSP00000412864:T736A;ENSP00000421216:T736A	ENSP00000325146:T736A	T	-	1	0	COL12A1	75944330	1.000000	0.71417	0.929000	0.37066	0.947000	0.59692	3.664000	0.54525	2.239000	0.73571	0.528000	0.53228	ACA		0.343	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		4	140	0	0	0	0.184627	0	4	140				
RAC2	5880	broad.mit.edu	37	22	37627415	37627415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr22:37627415G>A	ENST00000249071.6	-	5	425	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RAC2_ENST00000405484.1_Missense_Mutation_p.R95W|RAC2_ENST00000406508.1_Missense_Mutation_p.R58W	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	102					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell projection assembly (GO:0030031)|G-protein coupled receptor signaling pathway (GO:0007186)|lymphocyte aggregation (GO:0071593)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|regulation of cell-substrate adhesion (GO:0010810)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of neutrophil migration (GO:1902622)|regulation of respiratory burst (GO:0060263)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12					Dextromethorphan(DB00514)	CAGTGGTGCCGCACTTCTGGG	0.627																																						ENST00000249071.6																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(304-306)Cgg>Tgg		ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)							70.0	63.0	66.0					22																	37627415		2203	4300	6503	SO:0001583	missense	5880				axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr22:37627415G>A	M64595	CCDS13945.1	22q13.1	2014-09-17			ENSG00000128340	ENSG00000128340		"""Endogenous ligands"""	9802	protein-coding gene	gene with protein product		602049				2674130	Standard	NM_002872		Approved	EN-7	uc003arc.3	P15153	OTTHUMG00000150540	ENST00000249071.6:c.304C>T	22.37:g.37627415G>A	ENSP00000249071:p.Arg102Trp					RAC2_ENST00000405484.1_Missense_Mutation_p.R95W|RAC2_ENST00000406508.1_Missense_Mutation_p.R58W	p.R102W	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN			5	425	-			102					Q9UDJ4	Missense_Mutation	SNP	ENST00000249071.6	37	c.304C>T	CCDS13945.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790995	0.70452	.	.	ENSG00000128340	ENST00000249071;ENST00000406508;ENST00000405484;ENST00000441619	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	4.98	3.96	0.45880	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86514	0.5951	H	0.96048	3.76	0.80722	D	1	D	0.63880	0.993	D	0.66084	0.941	D	0.87874	0.2673	10	0.72032	D	0.01	.	8.7124	0.34391	0.0766:0.0:0.774:0.1494	.	102	P15153	RAC2_HUMAN	W	102;58;95;102	ENSP00000249071:R102W;ENSP00000385270:R58W;ENSP00000385590:R95W;ENSP00000403778:R102W	ENSP00000249071:R102W	R	-	1	2	RAC2	35957361	0.619000	0.27059	1.000000	0.80357	0.970000	0.65996	0.897000	0.28390	1.239000	0.43787	0.561000	0.74099	CGG		0.627	RAC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318812.1			23	20	0	0	0	0.693898	0	23	20				
SIM1	6492	broad.mit.edu	37	6	100868697	100868697	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:100868697T>C	ENST00000369208.3	-	10	1918	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	SIM1_ENST00000262901.4_Missense_Mutation_p.K379R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	379	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATTTTGACTTTGAGCTGGA	0.488																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1135-1137)aAg>aGg		single-minded family bHLH transcription factor 1							113.0	108.0	110.0					6																	100868697		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868697T>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1136A>G	6.37:g.100868697T>C	ENSP00000358210:p.Lys379Arg					SIM1_ENST00000262901.4_Missense_Mutation_p.K379R	p.K379R			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1918	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	379			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1136A>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712221	0.89112	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.54866	0.55;0.55	5.81	5.81	0.92471	Single-minded, C-terminal (2);	0.176541	0.49916	D	0.000140	T	0.28830	0.0715	N	0.20986	0.625	0.58432	D	0.999997	P	0.35575	0.51	B	0.37692	0.256	T	0.15492	-1.0435	10	0.31617	T	0.26	.	16.162	0.81727	0.0:0.0:0.0:1.0	.	379	P81133	SIM1_HUMAN	R	379	ENSP00000358210:K379R;ENSP00000262901:K379R	ENSP00000262901:K379R	K	-	2	0	SIM1	100975418	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.534000	0.82004	2.224000	0.72417	0.533000	0.62120	AAG		0.488	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		7	71	0	0	0	0.307466	0	7	71				
NDNF	79625	broad.mit.edu	37	4	121957900	121957900	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr4:121957900A>T	ENST00000379692.4	-	4	1752	c.1226T>A	c.(1225-1227)cTt>cAt	p.L409H	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	409					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTTCCTCTAAGCTGAAACTG	0.413																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(1225-1227)cTt>cAt		neuron-derived neurotrophic factor							114.0	112.0	113.0					4																	121957900		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121957900A>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1226T>A	4.37:g.121957900A>T	ENSP00000369014:p.Leu409His						p.L409H	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1752	-			409					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1226T>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567192	0.65651	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.64	5.64	0.86602	.	0.059400	0.64402	D	0.000002	T	0.75576	0.3868	M	0.61703	1.905	0.80722	D	1	D	0.63880	0.993	D	0.63597	0.916	T	0.78404	-0.2217	9	0.87932	D	0	-18.5846	15.8688	0.79091	1.0:0.0:0.0:0.0	.	409	Q8TB73	NDNF_HUMAN	H	409	.	ENSP00000369014:L409H	L	-	2	0	NDNF	122177350	1.000000	0.71417	0.897000	0.35233	0.911000	0.54048	9.339000	0.96797	2.145000	0.66743	0.533000	0.62120	CTT		0.413	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		40	65	0	0	0	0.819951	0	40	65				
PLCG2	5336	broad.mit.edu	37	16	81819709	81819709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:81819709G>A	ENST00000359376.3	+	2	329	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	39	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTCCACCCCCGAGCGGAGAAC	0.592																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(115-117)Gag>Aag		phospholipase C, gamma 2 (phosphatidylinositol-specific)							56.0	63.0	61.0					16																	81819709		2048	4182	6230	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81819709G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.115G>A	16.37:g.81819709G>A	ENSP00000352336:p.Glu39Lys						p.E39K	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			2	329	+			39			PH.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.115G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583922	0.96578	.	.	ENSG00000197943	ENST00000359376	T	0.58797	0.31	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.054632	0.64402	D	0.000001	T	0.68091	0.2963	M	0.79693	2.465	0.80722	D	1	D	0.62365	0.991	P	0.47402	0.546	T	0.75494	-0.3298	10	0.66056	D	0.02	.	18.5992	0.91242	0.0:0.0:1.0:0.0	.	39	P16885	PLCG2_HUMAN	K	39	ENSP00000352336:E39K	ENSP00000352336:E39K	E	+	1	0	PLCG2	80377210	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.443000	0.97568	2.388000	0.81334	0.655000	0.94253	GAG		0.592	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			6	16	0	0	0	0.307466	0	6	16				
PCDHGA5	56110	broad.mit.edu	37	5	140746018	140746018	+	Silent	SNP	C	C	T	rs372498112		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:140746018C>T	ENST00000518069.1	+	1	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	707					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGCCTTCGTCATCGTGC	0.602																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(2119-2121)ttC>ttT									169.0	183.0	178.0					5																	140746018		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140746018C>T	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2121C>T	5.37:g.140746018C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.F707F	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2121	+								Q2M3F5|Q9Y5D2	Silent	SNP	ENST00000518069.1	37	c.2121C>T	CCDS54925.1																																																																																				0.602	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		61	55	0	0	0	0.870114	0	61	55				
KL	9365	broad.mit.edu	37	13	33638070	33638070	+	Missense_Mutation	SNP	G	G	A	rs373063965		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr13:33638070G>A	ENST00000380099.3	+	5	2794	c.2786G>A	c.(2785-2787)cGt>cAt	p.R929H	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	929	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCCTCTATCGTTATGCTGCA	0.448																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(2785-2787)cGt>cAt		klotho		G	HIS/ARG	0,4406		0,0,2203	153.0	150.0	151.0		2786	2.5	0.3	13		151	1,8599	1.2+/-3.3	0,1,4299	no	missense	KL	NM_004795.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	929/1013	33638070	1,13005	2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33638070G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.2786G>A	13.37:g.33638070G>A	ENSP00000369442:p.Arg929His					KL_ENST00000487852.1_3'UTR	p.R929H	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	5	2794	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	929			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.2786G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	3.885	-0.025220	0.07589	0.0	1.16E-4	ENSG00000133116	ENST00000380099	T	0.25749	1.78	5.33	2.54	0.30619	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.316274	0.34906	N	0.003587	T	0.08537	0.0212	N	0.02379	-0.575	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.30179	-0.9987	10	0.22706	T	0.39	-3.6824	6.0034	0.19533	0.2318:0.1333:0.6348:0.0	.	929	Q9UEF7	KLOT_HUMAN	H	929	ENSP00000369442:R929H	ENSP00000369442:R929H	R	+	2	0	KL	32536070	1.000000	0.71417	0.326000	0.25389	0.430000	0.31655	3.157000	0.50716	0.575000	0.29434	0.655000	0.94253	CGT		0.448	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			18	92	0	0	0	0.520397	0	18	92				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			21	34	0	0	0	0.624587	0	21	34				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	18	0	0	0	0.435327	0	14	18				
LOC728323	728323	broad.mit.edu	37	2	243056808	243056808	+	RNA	SNP	T	T	A	rs62192205		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:243056808T>A	ENST00000456398.1	+	0	329																											ATAGCGAAGATGGAGAAATAC	0.279																																						ENST00000456398.1																			0																																																			0							g.chr2:243056808T>A																													2.37:g.243056808T>A														0	329	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.279	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			3	22	0	0	0	0.115264	0	3	22				
IGF2BP1	10642	broad.mit.edu	37	17	47122357	47122357	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:47122357C>T	ENST00000290341.3	+	12	1659	c.1325C>T	c.(1324-1326)gCa>gTa	p.A442V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A303V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	442	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTAGATTGCACCACCCGAA	0.478																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	ENST00000290341.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1324-1326)gCa>gTa		insulin-like growth factor 2 mRNA binding protein 1							203.0	180.0	188.0					17																	47122357		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47122357C>T	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1325C>T	17.37:g.47122357C>T	ENSP00000290341:p.Ala442Val					IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A303V	p.A442V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN			12	1659	+			442			KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.1325C>T	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	C	35	5.417707	0.96092	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.62941	-0.01;-0.01	5.01	5.01	0.66863	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.117207	0.64402	D	0.000019	T	0.76990	0.4065	M	0.61703	1.905	0.80722	D	1	D;P	0.63046	0.992;0.884	D;P	0.71184	0.972;0.501	T	0.78066	-0.2349	10	0.56958	D	0.05	-10.9082	18.1211	0.89572	0.0:1.0:0.0:0.0	.	303;442	C9JT33;Q9NZI8	.;IF2B1_HUMAN	V	442;303	ENSP00000290341:A442V;ENSP00000389135:A303V	ENSP00000290341:A442V	A	+	2	0	IGF2BP1	44477356	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.530000	0.81962	2.605000	0.88082	0.655000	0.94253	GCA		0.478	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546		28	65	0	0	0	0.729181	0	28	65				
CLEC18B	497190	broad.mit.edu	37	16	74443750	74443750	+	Splice_Site	SNP	C	C	T	rs149961754	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:74443750C>T	ENST00000339953.5	-	11	1359	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	413	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTGCCTACCCCATGGCAGC	0.637													.|||	3	0.000599042	0.0	0.0	5008	,	,		24915	0.001		0.002	False		,,,				2504	0.0					ENST00000339953.5																			0				endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.e11+1		C-type lectin domain family 18, member B		C	GLU/GLY	2,4280		0,2,2139	18.0	19.0	19.0		1238	1.8	0.1	16	dbSNP_134	19	18,8422		0,18,4202	no	missense-near-splice	CLEC18B	NM_001011880.2	98	0,20,6341	TT,TC,CC		0.2133,0.0467,0.1572	possibly-damaging	413/456	74443750	20,12702	2141	4220	6361	SO:0001630	splice_region_variant	497190					extracellular region	sugar binding	g.chr16:74443750C>T	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.1238+1G>A	16.37:g.74443750C>T							p.G413_splice	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			11	1359	-			413			C-type lectin.		B4DF90	Splice_Site	SNP	ENST00000339953.5	37	c.1238_splice	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	c	12.79	2.043253	0.36085	4.67E-4	0.002133	ENSG00000140839	ENST00000339953	T	0.17054	2.3	1.84	1.84	0.25277	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.161460	0.24975	U	0.034116	T	0.31199	0.0789	M	0.78344	2.41	0.09310	N	1	D	0.56968	0.978	P	0.57425	0.82	T	0.03157	-1.1066	9	.	.	.	.	7.2403	0.26092	0.0:1.0:0.0:0.0	.	413	Q6UXF7	CL18B_HUMAN	E	413	ENSP00000341051:G413E	.	G	-	2	0	CLEC18B	73001251	0.000000	0.05858	0.056000	0.19401	0.037000	0.13140	-0.245000	0.08890	1.350000	0.45770	0.430000	0.28490	GGG		0.637	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880	Missense_Mutation	4	22	0	0	0	0.150653	0	4	22				
SLC26A7	115111	broad.mit.edu	37	8	92406210	92406210	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr8:92406210G>C	ENST00000276609.3	+	18	2117	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E626D|SLC26A7_ENST00000523719.1_Missense_Mutation_p.E626D	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAGACTCAGAGAAACCAATTT	0.343																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1876-1878)gaG>gaC		solute carrier family 26 (anion exchanger), member 7							86.0	87.0	87.0					8																	92406210		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406210G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1878G>C	8.37:g.92406210G>C	ENSP00000276609:p.Glu626Asp					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.E626D|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E626D	p.E626D	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		18	2117	+			626			STAS.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1878G>C	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568139	0.28003	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.93906	-3.31;-3.31;-3.31	5.48	1.15	0.20763	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.100076	0.43919	D	0.000511	D	0.84238	0.5428	L	0.36672	1.1	0.30861	N	0.733523	B;B	0.10296	0.003;0.002	B;B	0.13407	0.005;0.009	T	0.68588	-0.5369	10	0.15499	T	0.54	.	1.1447	0.01772	0.2922:0.2815:0.2943:0.132	.	626;626	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	D	626	ENSP00000428849:E626D;ENSP00000276609:E626D;ENSP00000309504:E626D	ENSP00000276609:E626D	E	+	3	2	SLC26A7	92475386	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.537000	0.23144	0.643000	0.30638	0.557000	0.71058	GAG		0.343	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			9	118	0	0	0	0.335167	0	9	118				
RAB11FIP5	26056	broad.mit.edu	37	2	73315196	73315196	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:73315196T>C	ENST00000258098.6	-	3	1790	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	517					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGAGTCGGGTCCTTGGCTTC	0.602																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1549-1551)gAc>gGc		RAB11 family interacting protein 5 (class I)							55.0	61.0	59.0					2																	73315196		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315196T>C	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1550A>G	2.37:g.73315196T>C	ENSP00000258098:p.Asp517Gly					RAB11FIP5_ENST00000493523.2_5'UTR	p.D517G	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1790	-			517					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1550A>G	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.491099	0.26774	.	.	ENSG00000135631	ENST00000258098	T	0.47177	0.85	4.61	4.61	0.57282	.	0.193381	0.42682	D	0.000662	T	0.34308	0.0893	N	0.19112	0.55	0.37268	D	0.907282	B;B	0.19200	0.016;0.034	B;B	0.21546	0.023;0.035	T	0.32455	-0.9906	10	0.45353	T	0.12	-7.9687	13.2666	0.60137	0.0:0.0:0.0:1.0	.	517;517	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	G	517	ENSP00000258098:D517G	ENSP00000258098:D517G	D	-	2	0	RAB11FIP5	73168704	1.000000	0.71417	0.929000	0.37066	0.796000	0.44982	5.240000	0.65378	2.081000	0.62600	0.459000	0.35465	GAC		0.602	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		14	21	0	0	0	0.435327	0	14	21				
MAPT	4137	broad.mit.edu	37	17	44068858	44068858	+	Silent	SNP	G	G	A	rs201046056	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:44068858G>A	ENST00000571987.1	+	8	1413	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	MAPT_ENST00000334239.8_Silent_p.P96P|MAPT_ENST00000262410.5_Silent_p.P471P|MAPT_ENST00000576518.1_Silent_p.P85P|MAPT_ENST00000535772.1_Silent_p.P154P|MAPT_ENST00000340799.5_Silent_p.P125P|MAPT_ENST00000415613.2_Silent_p.P471P|MAPT_ENST00000574436.1_Silent_p.P154P|MAPT_ENST00000446361.3_Silent_p.P96P|MAPT_ENST00000347967.5_Silent_p.P60P|MAPT_ENST00000351559.5_Silent_p.P154P|MAPT_ENST00000431008.3_Silent_p.P154P|MAPT_ENST00000420682.2_Silent_p.P125P|MAPT_ENST00000344290.5_Silent_p.P471P|MAPT_ENST00000570299.1_3'UTR			P10636	TAU_HUMAN	microtubule-associated protein tau	471					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TCGCCACACCGCGGGGAGCAG	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		16691	0.002		0.0	False		,,,				2504	0.0					ENST00000344290.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1411-1413)ccG>ccA		microtubule-associated protein tau							91.0	101.0	98.0					17																	44068858		2203	4300	6503	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44068858G>A	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.1413G>A	17.37:g.44068858G>A						MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000535772.1_Silent_p.P154P|MAPT_ENST00000446361.3_Silent_p.P96P|MAPT_ENST00000576518.1_Silent_p.P85P|MAPT_ENST00000415613.2_Silent_p.P471P|MAPT_ENST00000431008.3_Silent_p.P154P|MAPT_ENST00000574436.1_Silent_p.P154P|MAPT_ENST00000571987.1_Silent_p.P471P|MAPT_ENST00000420682.2_Silent_p.P125P|MAPT_ENST00000351559.5_Silent_p.P154P|MAPT_ENST00000347967.5_Silent_p.P60P|MAPT_ENST00000340799.5_Silent_p.P125P|MAPT_ENST00000334239.8_Silent_p.P96P|MAPT_ENST00000262410.5_Silent_p.P471P	p.P471P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN			9	1735	+		Melanoma(429;0.216)	471					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	37	c.1413G>A	CCDS11501.1																																																																																				0.557	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		4	71	0	0	0	0.184627	0	4	71				
ZNF765	91661	broad.mit.edu	37	19	53911501	53911501	+	Silent	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:53911501G>A	ENST00000396408.3	+	4	810	c.693G>A	c.(691-693)agG>agA	p.R231R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CACTCTTAAGGAAACATCAGT	0.368																																						ENST00000396408.3																			0				endometrium(1)|lung(3)	4						c.(691-693)agG>agA		zinc finger protein 765							76.0	76.0	76.0					19																	53911501		2196	4296	6492	SO:0001819	synonymous_variant	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911501G>A	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.693G>A	19.37:g.53911501G>A						ZNF765_ENST00000594030.1_Intron	p.R231R	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	4	810	+			231					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Silent	SNP	ENST00000396408.3	37	c.693G>A	CCDS46171.1																																																																																				0.368	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		3	28	0	0	0	0.115264	0	3	28				
ECHS1	1892	broad.mit.edu	37	10	135183409	135183409	+	Splice_Site	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr10:135183409G>A	ENST00000368547.3	-	3	768	c.413C>T	c.(412-414)gCc>gTc	p.A138V	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	138				A -> P (in Ref. 1; BAA03001). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AACACTCACGGCATAGCCATT	0.493																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.e3+1		enoyl CoA hydratase, short chain, 1, mitochondrial							159.0	137.0	144.0					10																	135183409		2203	4298	6501	SO:0001630	splice_region_variant	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135183409G>A		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.414+1C>T	10.37:g.135183409G>A							p.A138_splice	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	3	768	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	138	A -> P (in Ref. 1; BAA03001).				O00739|Q5VWY1|Q96H54	Splice_Site	SNP	ENST00000368547.3	37	c.414_splice	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065044	0.76187	.	.	ENSG00000127884	ENST00000368547	T	0.60920	0.15	5.9	5.9	0.94986	Enoyl-CoA hydratase/isomerase, conserved site (1);Crotonase, core (1);	0.100309	0.64402	D	0.000002	T	0.81786	0.4896	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84911	0.0848	10	0.72032	D	0.01	.	17.8179	0.88640	0.0:0.0:1.0:0.0	.	138	P30084	ECHM_HUMAN	V	138	ENSP00000357535:A138V	ENSP00000357535:A138V	A	-	2	0	ECHS1	135033399	1.000000	0.71417	0.262000	0.24481	0.089000	0.18198	8.717000	0.91425	2.811000	0.96726	0.555000	0.69702	GCC		0.493	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		Missense_Mutation	3	41	0	0	0	0.115264	0	3	41				
SYCP1	6847	broad.mit.edu	37	1	115401333	115401333	+	Splice_Site	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:115401333G>A	ENST00000369522.3	+	6	696		c.e6+1		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACTGCAAGTATGACACAA	0.323																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.e6+1		synaptonemal complex protein 1							111.0	115.0	114.0					1																	115401333		2203	4299	6502	SO:0001630	splice_region_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115401333G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.456+1G>A	1.37:g.115401333G>A						SYCP1_ENST00000369518.1_Splice_Site		NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	696	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)						O14963|Q5VXJ6	Splice_Site	SNP	ENST00000369522.3	37		CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380309	0.24944	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1352	0.89617	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYCP1	115202856	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	8.740000	0.91579	2.375000	0.81037	0.563000	0.77884	.		0.323	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176	Intron	32	92	0	0	0	0.796494	0	32	92				
MED12L	116931	broad.mit.edu	37	3	150877703	150877703	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:150877703G>T	ENST00000474524.1	+	7	960	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	MED12L_ENST00000309237.4_Missense_Mutation_p.D308Y|MED12L_ENST00000422248.2_Missense_Mutation_p.D308Y|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	308						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTGAGCGATAGCCCCAA	0.577																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(922-924)Gat>Tat		mediator complex subunit 12-like							156.0	157.0	157.0					3																	150877703		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877703G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.922G>T	3.37:g.150877703G>T	ENSP00000417235:p.Asp308Tyr					MED12L_ENST00000309237.4_Missense_Mutation_p.D308Y|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Missense_Mutation_p.D308Y	p.D308Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	960	+			308					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.922G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624729	0.87560	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	T;T;T	0.34859	1.34;1.34;1.34	5.41	5.41	0.78517	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.055417	0.64402	D	0.000001	T	0.53029	0.1771	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.99;0.998;1.0	D;D;D	0.91635	0.938;0.958;0.999	T	0.55173	-0.8182	10	0.87932	D	0	-13.6373	18.813	0.92065	0.0:0.0:1.0:0.0	.	308;308;308	Q86YW9;Q86YW9-2;Q86YW9-3	MD12L_HUMAN;.;.	Y	308	ENSP00000403308:D308Y;ENSP00000310760:D308Y;ENSP00000417235:D308Y	ENSP00000310760:D308Y	D	+	1	0	MED12L	152360393	1.000000	0.71417	0.642000	0.29436	0.983000	0.72400	8.950000	0.93019	2.533000	0.85409	0.561000	0.74099	GAT		0.577	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		5	96	1	0	0.014758	0.184627	0.0158121	5	96				
PKN1	5585	broad.mit.edu	37	19	14568915	14568915	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:14568915A>T	ENST00000242783.6	+	8	1403	c.1238A>T	c.(1237-1239)aAt>aTt	p.N413I	PKN1_ENST00000342216.4_Missense_Mutation_p.N419I|CTC-548K16.6_ENST00000589702.1_RNA	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	413	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGTGGCCCCAATGCCTGGGAC	0.592																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1237-1239)aAt>aTt		protein kinase N1							120.0	121.0	121.0					19																	14568915		2025	4201	6226	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14568915A>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1238A>T	19.37:g.14568915A>T	ENSP00000242783:p.Asn413Ile					PKN1_ENST00000342216.4_Missense_Mutation_p.N419I	p.N413I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			8	1403	+			413			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1238A>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	A	11.92	1.782210	0.31502	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.22134	1.97;1.97	4.27	-0.273	0.12915	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.471757	0.20768	U	0.086037	T	0.16727	0.0402	L	0.44542	1.39	0.23435	N	0.99768	B;B	0.27791	0.189;0.119	B;B	0.29440	0.102;0.047	T	0.15065	-1.0450	10	0.87932	D	0	.	8.4331	0.32771	0.6471:0.0:0.3529:0.0	.	419;413	Q16512-2;Q16512	.;PKN1_HUMAN	I	413;419	ENSP00000242783:N413I;ENSP00000343325:N419I	ENSP00000242783:N413I	N	+	2	0	PKN1	14429915	0.005000	0.15991	0.909000	0.35828	0.668000	0.39293	1.009000	0.29886	-0.561000	0.06094	-0.450000	0.05554	AAT		0.592	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		6	77	0	0	0	0.217242	0	6	77				
SPECC1	92521	broad.mit.edu	37	17	20135590	20135590	+	Silent	SNP	G	G	A			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:20135590G>A	ENST00000261503.5	+	7	2274	c.2223G>A	c.(2221-2223)gaG>gaA	p.E741E	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395529.3_Silent_p.E741E|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395530.2_Silent_p.E660E|SPECC1_ENST00000395522.2_Silent_p.E660E|SPECC1_ENST00000536879.1_Silent_p.E81E|SPECC1_ENST00000584527.1_Silent_p.E159E|SPECC1_ENST00000395527.4_Silent_p.E741E|SPECC1_ENST00000395525.3_Silent_p.E660E	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	741					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCAAGTGTGAGGCCCAGCAGG	0.607																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1978-1980)gaG>gaA		sperm antigen with calponin homology and coiled-coil domains 1							79.0	79.0	79.0					17																	20135590		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20135590G>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2223G>A	17.37:g.20135590G>A						SPECC1_ENST00000261503.5_Silent_p.E741E|SPECC1_ENST00000395529.3_Silent_p.E741E|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Silent_p.E660E|SPECC1_ENST00000395527.4_Silent_p.E741E|SPECC1_ENST00000584527.1_Silent_p.E159E|SPECC1_ENST00000395525.3_Silent_p.E660E|SPECC1_ENST00000536879.1_Silent_p.E81E|SPECC1_ENST00000472876.1_3'UTR	p.E660E	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	5	2188	+			741					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.1980G>A	CCDS32590.1																																																																																				0.607	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		49	56	0	0	0	0.870114	0	49	56				
ATRX	546	broad.mit.edu	37	X	76874433	76874433	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874433A>C	ENST00000373344.5	-	21	5503	c.5289T>G	c.(5287-5289)aaT>aaG	p.N1763K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1725K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1763	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CCTTGATAAAATTAACCATAC	0.308			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5287-5289)aaT>aaG		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						45.0	41.0	43.0					X																	76874433		2203	4292	6495	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76874433A>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5289T>G	X.37:g.76874433A>C	ENSP00000362441:p.Asn1763Lys					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1725K	p.N1763K	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			21	5503	-			1763			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.5289T>G	CCDS14434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.34|17.34	3.364438|3.364438	0.61513|0.61513	.|.	.|.	ENSG00000085224|ENSG00000085224	ENST00000400866|ENST00000373344;ENST00000395603	.|D;D	.|0.93763	.|-3.28;-3.28	5.5|5.5	1.8|1.8	0.24995|0.24995	.|DEAD-like helicase (2);SNF2-related (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96510|0.96510	0.8861|0.8861	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.996;1.0	.|D;D	.|0.91635	.|0.917;0.999	D|D	0.95465|0.95465	0.8546|0.8546	5|10	.|0.72032	.|D	.|0.01	-11.1685|-11.1685	9.5782|9.5782	0.39470|0.39470	0.3157:0.0:0.6843:0.0|0.3157:0.0:0.6843:0.0	.|.	.|1725;1763	.|P46100-4;P46100	.|.;ATRX_HUMAN	S|K	52|1763;1725	.|ENSP00000362441:N1763K;ENSP00000378967:N1725K	.|ENSP00000362441:N1763K	I|N	-|-	2|3	0|2	ATRX|ATRX	76761089|76761089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.571000|1.571000	0.36450|0.36450	0.435000|0.435000	0.26365|0.26365	-0.233000|-0.233000	0.12211|0.12211	ATT|AAT		0.308	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		17	39	0	0	0	0.520397	0	17	39				
DNAH5	1767	broad.mit.edu	37	5	13735963	13735963	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:13735963C>T	ENST00000265104.4	-	67	11638	c.11534G>A	c.(11533-11535)cGc>cAc	p.R3845H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3845					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAAACTGGCGAAGCGAAGT	0.468									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11533-11535)cGc>cAc		dynein, axonemal, heavy chain 5							132.0	123.0	126.0					5																	13735963		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735963C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11534G>A	5.37:g.13735963C>T	ENSP00000265104:p.Arg3845His						p.R3845H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			67	11638	-	Lung NSC(4;0.00476)		3845					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11534G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347398	0.82022	.	.	ENSG00000039139	ENST00000265104	T	0.53857	0.6	5.76	5.76	0.90799	.	0.056181	0.64402	D	0.000001	T	0.61110	0.2321	L	0.58302	1.8	0.80722	D	1	D	0.56968	0.978	P	0.49361	0.608	T	0.60831	-0.7185	10	0.46703	T	0.11	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	3845	Q8TE73	DYH5_HUMAN	H	3845	ENSP00000265104:R3845H	ENSP00000265104:R3845H	R	-	2	0	DNAH5	13788963	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.896000	0.63222	2.721000	0.93114	0.591000	0.81541	CGC		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	89	0	0	0	0.184627	0	4	89				
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		4	9						4	9	---	---	---	---
NES	10763	broad.mit.edu	37	1	156639260	156639263	+	Frame_Shift_Del	DEL	CTCC	CTCC	-			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:156639260_156639263delCTCC	ENST00000368223.3	-	4	4849_4852	c.4717_4720delGGAG	c.(4717-4722)ggagacfs	p.GD1573fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1573	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCTCGGTCTCCCTCAGAGACT	0.598																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(4717-4722)acfs		nestin																																				SO:0001589	frameshift_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156639260_156639263delCTCC	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.4717_4720delGGAG	1.37:g.156639260_156639263delCTCC	ENSP00000357206:p.Gly1573fs						p.GD1573fs	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	4849_4852	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1573			Tail.		O00552|Q3LIF5|Q5SYZ6	Frame_Shift_Del	DEL	ENST00000368223.3	37	c.4717_4720delGGAG	CCDS1151.1																																																																																				0.598	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		29	42						29	42	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201617945	201617946	+	In_Frame_Ins	INS	-	-	CGG	rs561927033	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:201617945_201617946insCGG	ENST00000367296.4	+	1	569_570	c.149_150insCGG	c.(148-153)cccggc>ccCGGcggc	p.55_56insG	NAV1_ENST00000367300.3_In_Frame_Ins_p.55_56insG|NAV1_ENST00000367297.4_In_Frame_Ins_p.55_56insG|NAV1_ENST00000367302.1_In_Frame_Ins_p.68_69insG|NAV1_ENST00000295624.6_In_Frame_Ins_p.55_56insG	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	55					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						gccaaggcgcccggcggcggcg	0.782														16	0.00319489	0.0	0.0043	5008	,	,		8360	0.0		0.0129	False		,,,				2504	0.0					ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(148-150)cgg>cCGGgg		neuron navigator 1																																				SO:0001652	inframe_insertion	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201617945_201617946insCGG	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.162_164dupCGG	1.37:g.201617952_201617954dupCGG	ENSP00000356265:p.Gly55_Gly55dup					NAV1_ENST00000295624.6_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367300.3_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367297.4_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367302.1_In_Frame_Ins_p.63_63R>PG	p.50_50R>PG	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			1	569_570	+			50					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	In_Frame_Ins	INS	ENST00000367296.4	37	c.149_150insCGG	CCDS1414.2																																																																																				0.782	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		4	6						4	6	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66767610	66767611	+	RNA	INS	-	-	G	rs71293166|rs12531701	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr7:66767610_66767611insG	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		CACCGGACTGCTTTTTTTTTTT	0.545																																						ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767610_66767611insG	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767610_66767611insG								NR_040586.1		Q8TBR4	STG34_HUMAN			0	3_4	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	INS	ENST00000414507.1	37																																																																																						0.545	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	4						3	4	---	---	---	---
RP11-991C1.2	0	broad.mit.edu	37	14	95516588	95516610	+	lincRNA	DEL	GGAAGGAAGGAAGGAAAGAAGAA	GGAAGGAAGGAAGGAAAGAAGAA	-	rs141805851|rs370630614|rs373606592		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA	ENST00000554033.1	+	0	41																											aagaaggaagggaaggaaggaaggaaagaagaaggaaggaagg	0.448																																						ENST00000554033.1																			0																																																			0							g.chr14:95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA																													14.37:g.95516588_95516610delGGAAGGAAGGAAGGAAAGAAGAA														0	41	+									RNA	DEL	ENST00000554033.1	37																																																																																						0.448	RP11-991C1.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414512.1			3	6						3	6	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-	rs572079359	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr15:23299147delA	ENST00000560464.1	-	0	4510									hect domain and RLD 2 pseudogene 2																		ACATTCAAAGAAAAAAAAAAA	0.313													|||unknown(HR)	437	0.0872604	0.1884	0.1182	5008	,	,		18000	0.0308		0.0268	False		,,,				2504	0.0491					ENST00000560464.1																			0																																																			0							g.chr15:23299147delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23299147delA														0	4510	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.313	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			2	4						2	4	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				2	4						2	4	---	---	---	---
