#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
UBR4	23352	broad.mit.edu	37	1	19468015	19468015	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:19468015C>G	ENST00000375254.3	-	57	8341	c.8314G>C	c.(8314-8316)Gag>Cag	p.E2772Q	UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q|UBR4_ENST00000375267.2_Missense_Mutation_p.E2772Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2772					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCGACTCAGACTGCAGA	0.552																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(8314-8316)Gag>Cag		ubiquitin protein ligase E3 component n-recognin 4							63.0	67.0	66.0					1																	19468015		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19468015C>G	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8314G>C	1.37:g.19468015C>G	ENSP00000364403:p.Glu2772Gln					UBR4_ENST00000375254.3_Missense_Mutation_p.E2772Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q	p.E2772Q			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	57	8317	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2772					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.8314G>C	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434383	0.62955	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.26067	1.78;1.78;1.76;1.8	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	L	0.29908	0.895	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.02942	-1.1091	10	0.33141	T	0.24	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	2772	Q5T4S7	UBR4_HUMAN	Q	2772;2772;2800;2783;415;1493	ENSP00000364403:E2772Q;ENSP00000364416:E2772Q;ENSP00000364365:E2800Q;ENSP00000364374:E2783Q	ENSP00000364365:E2800Q	E	-	1	0	UBR4	19340602	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.837000	0.97791	0.591000	0.81541	GAG		0.552	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		11	45	0	0	0	1	0	11	45				
GALNT4	8693	broad.mit.edu	37	12	89916698	89916698	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr12:89916698G>T	ENST00000529983.2	-	1	1885	c.1629C>A	c.(1627-1629)caC>caA	p.H543Q	POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000413530.1_Missense_Mutation_p.H371Q|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.H540Q|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000541909.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	543	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACAGTCCTGAGTGTGGGTGAA	0.398																																						ENST00000548729.1																			0											c.(1618-1620)caC>caA									111.0	107.0	108.0					12																	89916698		1857	4106	5963	SO:0001583	missense	0							g.chr12:89916698G>T	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1629C>A	12.37:g.89916698G>T	ENSP00000436604:p.His543Gln					POC1B_ENST00000549504.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B_ENST00000393179.4_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.H543Q|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000413530.1_Missense_Mutation_p.H371Q|POC1B_ENST00000541909.1_Intron	p.H540Q	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1					3	1922	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.1620C>A	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	G	2.664	-0.279148	0.05642	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;T;T	0.25085	1.82;1.82;1.82	5.93	-1.47	0.08772	Ricin B-related lectin (1);Ricin B lectin (3);	.	.	.	.	T	0.08268	0.0206	N	0.04805	-0.155	0.33805	D	0.627166	B;B	0.10296	0.002;0.003	B;B	0.14023	0.006;0.01	T	0.38672	-0.9650	9	0.13853	T	0.58	.	1.3521	0.02175	0.4043:0.262:0.2006:0.1332	.	540;543	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	Q	540;371;543	ENSP00000447852:H540Q;ENSP00000389686:H371Q;ENSP00000436604:H543Q	ENSP00000436604:H543Q	H	-	3	2	GALNT4;RP11-1109F11.4	88440829	0.999000	0.42202	0.965000	0.40720	0.840000	0.47671	0.625000	0.24477	0.142000	0.18901	-0.189000	0.12847	CAC		0.398	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		8	72	1	0	1.06961e-07	1	1.06961e-07	8	72				
TTYH3	80727	broad.mit.edu	37	7	2689592	2689592	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr7:2689592A>G	ENST00000258796.7	+	7	1046	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V|TTYH3_ENST00000477439.1_3'UTR	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	281					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGTGACCAAAATGGTGGAGGA	0.622																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(841-843)Atg>Gtg		tweety family member 3							121.0	100.0	107.0					7																	2689592		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2689592A>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.841A>G	7.37:g.2689592A>G	ENSP00000258796:p.Met281Val					TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V	p.M281V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	7	1046	+		Ovarian(82;0.0112)	281					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.841A>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	A	4.591	0.109801	0.08780	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167	T;T;T	0.10573	2.86;2.86;2.86	4.48	3.32	0.38043	.	0.156810	0.64402	D	0.000020	T	0.04092	0.0114	N	0.03324	-0.35	0.37450	D	0.914784	B;B	0.10296	0.003;0.002	B;B	0.17098	0.005;0.017	T	0.40040	-0.9584	10	0.16896	T	0.51	.	6.6898	0.23165	0.7465:0.0:0.2535:0.0	.	110;281	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	V	281;249;110	ENSP00000258796:M281V;ENSP00000385316:M249V;ENSP00000385015:M110V	ENSP00000258796:M281V	M	+	1	0	TTYH3	2656118	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.937000	0.48979	0.576000	0.29452	0.528000	0.53228	ATG		0.622	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		11	33	0	0	0	1	0	11	33				
DUOX2	50506	broad.mit.edu	37	15	45397878	45397878	+	Missense_Mutation	SNP	C	C	T	rs545643570	byFrequency	TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:45397878C>T	ENST00000603300.1	-	18	2499	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	DUOX2_ENST00000389039.6_Missense_Mutation_p.R766H	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	766					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCCAGGATGCGTTCCCGCTG	0.562													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19496	0.0		0.0	False		,,,				2504	0.001					ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(2296-2298)cGc>cAc		dual oxidase 2							138.0	124.0	129.0					15																	45397878		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45397878C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.2297G>A	15.37:g.45397878C>T	ENSP00000475084:p.Arg766His					DUOX2_ENST00000603300.1_Missense_Mutation_p.R766H	p.R766H			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	18	2682	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	766					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.2297G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.806516	0.31961	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.63	2.35	0.29111	.	0.485574	0.24698	N	0.036334	T	0.06096	0.0158	N	0.00347	-1.61	0.09310	N	0.999999	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.27331	-1.0077	9	0.24483	T	0.36	-4.5297	2.3452	0.04270	0.2292:0.4442:0.0:0.3267	.	766;328	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	H	766	.	ENSP00000373691:R766H	R	-	2	0	DUOX2	43185170	0.688000	0.27680	0.725000	0.30721	0.995000	0.86356	0.975000	0.29449	1.367000	0.46095	0.655000	0.94253	CGC		0.562	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		26	46	0	0	0	1	0	26	46				
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577532G>C	ENST00000269305.4	-	7	938	c.749C>G	c.(748-750)cCc>cGc	p.P250R	TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000420246.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000359597.4_Missense_Mutation_p.P250R	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	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)	GGTGAGGATGGGCCTCCGGTT	0.577		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"""		80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(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	CM973401	TP53	M		c.(748-750)cCc>cGc	Other conserved DNA damage response genes	tumor protein p53							154.0	112.0	126.0					17																	7577532		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.chr17:7577532G>C	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.749C>G	17.37:g.7577532G>C	ENSP00000269305:p.Pro250Arg	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_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000269305.4_Missense_Mutation_p.P250R|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000359597.4_Missense_Mutation_p.P250R	p.P250R	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	881	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	250		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.749C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111004	0.77210	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	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	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.996;0.997;0.997;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	R	250;250;250;250;250;250;239;118	ENSP00000410739:P250R;ENSP00000352610:P250R;ENSP00000269305:P250R;ENSP00000398846:P250R;ENSP00000391127:P250R;ENSP00000391478:P250R;ENSP00000425104:P118R	ENSP00000269305:P250R	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	32	0	0	0	1	0	3	32				
IQGAP1	8826	broad.mit.edu	37	15	91016190	91016190	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:91016190G>A	ENST00000268182.5	+	19	2421	c.2297G>A	c.(2296-2298)cGa>cAa	p.R766Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	766	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGGAATTCCGATCCAGGATG	0.517																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2296-2298)cGa>cAa		IQ motif containing GTPase activating protein 1							99.0	100.0	100.0					15																	91016190		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91016190G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2297G>A	15.37:g.91016190G>A	ENSP00000268182:p.Arg766Gln					IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	p.R766Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		19	2421	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		766			IQ 1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.2297G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031761	0.35797	.	.	ENSG00000140575	ENST00000268182	T	0.27890	1.64	6.02	5.08	0.68730	.	0.233498	0.35870	N	0.002925	T	0.09992	0.0245	N	0.01438	-0.865	0.31205	N	0.699375	B	0.06786	0.001	B	0.04013	0.001	T	0.16748	-1.0392	10	0.13853	T	0.58	-6.2325	7.0994	0.25327	0.2754:0.0:0.7246:0.0	.	766	P46940	IQGA1_HUMAN	Q	766	ENSP00000268182:R766Q	ENSP00000268182:R766Q	R	+	2	0	IQGAP1	88817194	0.997000	0.39634	0.970000	0.41538	0.996000	0.88848	2.810000	0.47979	1.478000	0.48253	0.655000	0.94253	CGA		0.517	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		36	73	0	0	0	1	0	36	73				
ABCA9	10350	broad.mit.edu	37	17	67023806	67023806	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:67023806A>G	ENST00000340001.4	-	13	1977	c.1766T>C	c.(1765-1767)aTt>aCt	p.I589T	ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	589	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGTGGCAAAATCCCTTTTAT	0.353																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(1765-1767)aTt>aCt		ATP-binding cassette, sub-family A (ABC1), member 9							85.0	80.0	82.0					17																	67023806		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67023806A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1766T>C	17.37:g.67023806A>G	ENSP00000342216:p.Ile589Thr					ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T	p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			13	1977	-	Breast(10;1.47e-12)		589			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.1766T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593402	0.46214	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.39997	1.05;1.05	5.1	5.1	0.69264	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.49305	D	0.000159	T	0.52837	0.1759	L	0.35288	1.05	0.45318	D	0.998315	D;D	0.69078	0.996;0.997	D;D	0.74674	0.984;0.983	T	0.56786	-0.7921	10	0.87932	D	0	.	14.0011	0.64433	1.0:0.0:0.0:0.0	.	589;589	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	589;572;589;584	ENSP00000342216:I589T;ENSP00000359767:I589T	ENSP00000342216:I589T	I	-	2	0	ABCA9	64535401	1.000000	0.71417	0.996000	0.52242	0.068000	0.16541	7.729000	0.84864	2.062000	0.61559	0.482000	0.46254	ATT		0.353	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		3	62	0	0	0	1	0	3	62				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T														0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		3	57	0	0	0	1	0	3	57				
TTN	7273	broad.mit.edu	37	2	179438184	179438184	+	Silent	SNP	C	C	T	rs374314698		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179438184C>T	ENST00000591111.1	-	276	67976	c.67752G>A	c.(67750-67752)ccG>ccA	p.P22584P	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.P24225P|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.P15285P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Silent_p.P15160P			Q8WZ42	TITIN_HUMAN	titin	22584	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> L. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTTTGGGCGGATCAGGGG	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72673-72675)ccG>ccA		titin		C	,,,	0,3802		0,0,1901	96.0	96.0	96.0		45480,64971,45855,46056	2.1	1.0	2		96	1,8243		0,1,4121	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6022	TT,TC,CC		0.0121,0.0,0.0083	,,,	15160/26927,21657/33424,15285/27052,15352/27119	179438184	1,12045	1901	4122	6023	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438184C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67752G>A	2.37:g.179438184C>T						TTN_ENST00000359218.5_Silent_p.P15285P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P22584P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.P15160P|TTN-AS1_ENST00000456053.1_RNA	p.P24225P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72899	-			22584			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.72675G>A																																																																																					0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	65	0	0	0	1	0	37	65				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			14	43	0	0	0	1	0	14	43				
PIK3CA	5290	broad.mit.edu	37	3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		A -> V (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.A1035T(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAGCAAGAGGCTTTGGAGTA	0.388		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.A1035T(2)	urinary_tract(1)|endometrium(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3103-3105)Gct>Act		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							97.0	86.0	89.0					3																	178952048		1887	4127	6014	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952048G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3103G>A	3.37:g.178952048G>A	ENSP00000263967:p.Ala1035Thr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.A1035T	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3260	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1035		A -> V (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3103G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503960	0.85176	.	.	ENSG00000121879	ENST00000263967	D	0.83673	-1.75	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94434	0.7652	10	0.87932	D	0	-13.9415	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1035	P42336	PK3CA_HUMAN	T	1035	ENSP00000263967:A1035T	ENSP00000263967:A1035T	A	+	1	0	PIK3CA	180434742	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GCT		0.388	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			3	56	0	0	0	1	0	3	56				
CWC22	57703	broad.mit.edu	37	2	180835797	180835797	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:180835797C>T	ENST00000410053.3	-	9	1110	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	271	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.E271K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CATAATACTTCGTGTGCCTTA	0.299																																						ENST00000410053.3																			1	Substitution - Missense(1)	p.E271K(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(811-813)Gaa>Aaa		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							70.0	62.0	65.0					2																	180835797		1839	4095	5934	SO:0001583	missense	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180835797C>T		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.811G>A	2.37:g.180835797C>T	ENSP00000387006:p.Glu271Lys					CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			9	1110	-			271			MIF4G.		Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	c.811G>A	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937982	0.92526	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.25749	1.78;1.78;1.78	5.91	5.91	0.95273	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.66228	0.2768	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76022	-0.3111	10	0.87932	D	0	-27.2497	19.2867	0.94077	0.0:1.0:0.0:0.0	.	271	Q9HCG8	CWC22_HUMAN	K	271	ENSP00000387006:E271K;ENSP00000295749:E271K;ENSP00000384159:E271K	ENSP00000295749:E271K	E	-	1	0	CWC22	180544042	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.610000	0.82949	2.793000	0.96121	0.655000	0.94253	GAA		0.299	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		4	12	0	0	0	1	0	4	12				
ZNF792	126375	broad.mit.edu	37	19	35449165	35449165	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr19:35449165G>A	ENST00000404801.1	-	4	1980	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	532					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCATAAGGCCGCTCGCCGGTG	0.517																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1594-1596)Cgg>Tgg		zinc finger protein 792							60.0	53.0	56.0					19																	35449165		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449165G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1594C>T	19.37:g.35449165G>A	ENSP00000385099:p.Arg532Trp					ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	p.R532W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	1980	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		532					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.1594C>T	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	g	14.43	2.533734	0.45073	.	.	ENSG00000180884	ENST00000404801;ENST00000379189	T	0.20332	2.08	2.69	0.335	0.15953	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	M	0.89287	3.02	0.24112	N	0.995839	P	0.42584	0.784	B	0.35353	0.201	T	0.20840	-1.0263	9	0.87932	D	0	.	8.2584	0.31771	0.0:0.0:0.3728:0.6272	.	532	Q3KQV3	ZN792_HUMAN	W	532;292	ENSP00000385099:R532W	ENSP00000368487:R292W	R	-	1	2	ZNF792	40141005	0.038000	0.19896	0.014000	0.15608	0.844000	0.47949	2.376000	0.44292	0.165000	0.19558	0.563000	0.77884	CGG		0.517	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		12	25	0	0	0	1	0	12	25				
HERC1	8925	broad.mit.edu	37	15	63933734	63933734	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:63933734G>C	ENST00000443617.2	-	60	11629	c.11542C>G	c.(11542-11544)Ccc>Gcc	p.P3848A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3848					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCATGCAGGGAGCCATGTTC	0.483																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(11542-11544)Ccc>Gcc		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							76.0	71.0	73.0					15																	63933734		1921	4142	6063	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63933734G>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11542C>G	15.37:g.63933734G>C	ENSP00000390158:p.Pro3848Ala						p.P3848A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			60	11629	-			3848					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.11542C>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082730	0.94050	.	.	ENSG00000103657	ENST00000443617	T	0.26810	1.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.25082	0.0609	L	0.29908	0.895	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.01424	-1.1358	10	0.62326	D	0.03	.	20.4008	0.98991	0.0:0.0:1.0:0.0	.	3848	Q15751	HERC1_HUMAN	A	3848	ENSP00000390158:P3848A	ENSP00000390158:P3848A	P	-	1	0	HERC1	61720787	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	CCC		0.483	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		10	17	0	0	0	1	0	10	17				
MYH7B	57644	broad.mit.edu	37	20	33586196	33586196	+	Silent	SNP	G	G	A	rs367556657		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:33586196G>A	ENST00000262873.7	+	31	4064	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1282						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGCAAGCACGCAGCGTGGGC	0.647																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3970-3972)acG>acA		myosin, heavy chain 7B, cardiac muscle, beta		G		0,4346		0,0,2173	50.0	60.0	57.0		3972	0.4	1.0	20		57	1,8551		0,1,4275	no	coding-synonymous	MYH7B	NM_020884.3		0,1,6448	AA,AG,GG		0.0117,0.0,0.0078		1324/1984	33586196	1,12897	2173	4276	6449	SO:0001819	synonymous_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33586196G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.3972G>A	20.37:g.33586196G>A							p.T1324T	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		31	4064	+			1282					Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	ENST00000262873.7	37	c.3972G>A	CCDS42869.1																																																																																				0.647	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		25	58	0	0	0	1	0	25	58				
EREG	2069	broad.mit.edu	37	4	75248410	75248410	+	Silent	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:75248410C>T	ENST00000244869.2	+	4	493	c.327C>T	c.(325-327)acC>acT	p.T109T	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	109					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCTTTTTAACCGTCCACCAAC	0.368																																						ENST00000244869.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						c.(325-327)acC>acT		epiregulin							171.0	161.0	164.0					4																	75248410		2203	4300	6503	SO:0001819	synonymous_variant	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75248410C>T	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.327C>T	4.37:g.75248410C>T						EREG_ENST00000503689.1_3'UTR	p.T109T	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	Lung(101;0.196)		4	493	+			109					B2RC66|Q6FH69	Silent	SNP	ENST00000244869.2	37	c.327C>T	CCDS3564.1																																																																																				0.368	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			4	70	0	0	0	1	0	4	70				
ROBO2	6092	broad.mit.edu	37	3	77638042	77638042	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:77638042T>C	ENST00000461745.1	+	17	3541	c.2641T>C	c.(2641-2643)Tat>Cat	p.Y881H	ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	881					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATATGGTTGTATTGGCGAAG	0.408																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(2641-2643)Tat>Cat		roundabout, axon guidance receptor, homolog 2 (Drosophila)							187.0	175.0	179.0					3																	77638042		1883	4111	5994	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77638042T>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2641T>C	3.37:g.77638042T>C	ENSP00000417164:p.Tyr881His					ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H	p.Y881H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	17	3541	+			881					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.2641T>C	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.230725	0.79688	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.64618	-0.11;-0.08;-0.05	5.78	5.78	0.91487	.	0.000000	0.38720	U	0.001597	T	0.75975	0.3923	L	0.56124	1.755	0.40599	D	0.981560	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79322	-0.1851	9	0.87932	D	0	.	16.1167	0.81309	0.0:0.0:0.0:1.0	.	897;881;881	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	897;897;901;881;881	ENSP00000417335:Y897H;ENSP00000417164:Y881H;ENSP00000327536:Y881H	ENSP00000327536:Y881H	Y	+	1	0	ROBO2	77720732	1.000000	0.71417	0.997000	0.53966	0.744000	0.42396	8.040000	0.89188	2.204000	0.70986	0.528000	0.53228	TAT		0.408	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		7	63	0	0	0	1	0	7	63				
TTN	7273	broad.mit.edu	37	2	179595438	179595438	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179595438A>G	ENST00000591111.1	-	59	17095	c.16871T>C	c.(16870-16872)aTa>aCa	p.I5624T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I5941T|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12435	Ig-like 37.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGCCACTATACATTCTAA	0.358																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(17821-17823)aTa>aCa		titin							64.0	67.0	66.0					2																	179595438		1851	4101	5952	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179595438A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16871T>C	2.37:g.179595438A>G	ENSP00000465570:p.Ile5624Thr					TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I5624T|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.I5941T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		61	18046	-			5624			Ig-like 40.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.17822T>C		.	.	.	.	.	.	.	.	.	.	A	9.662	1.144424	0.21288	.	.	ENSG00000155657	ENST00000342992	T	0.63580	-0.05	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58552	0.2130	N	0.20357	0.565	0.80722	D	1	D	0.53312	0.959	P	0.50049	0.629	T	0.64922	-0.6293	9	0.87932	D	0	.	16.2605	0.82541	1.0:0.0:0.0:0.0	.	5624	Q8WZ42	TITIN_HUMAN	T	4697	ENSP00000343764:I4697T	ENSP00000343764:I4697T	I	-	2	0	TTN	179303683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.327000	0.79147	2.237000	0.73441	0.460000	0.39030	ATA		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	78	0	0	0	1	0	4	78				
TP53	7157	broad.mit.edu	37	17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	rs55832599		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577139G>A	ENST00000269305.4	-	8	988	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W	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	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	AAGCTGTTCCGTCCCAGTAGA	0.522		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"""		50	Substitution - Missense(26)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(3)|Substitution - coding silent(1)	p.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	large_intestine(9)|central_nervous_system(9)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thymus(1)|breast(1)|skin(1)|eye(1)|prostate(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.(799-801)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							51.0	45.0	47.0					17																	7577139		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.chr17:7577139G>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.799C>T	17.37:g.7577139G>A	ENSP00000269305:p.Arg267Trp	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_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000359597.4_Missense_Mutation_p.R267W	p.R267W	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	931	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).	Interaction with AXIN1 (By similarity).|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.799C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307537	0.81247	.	.	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	5.13	4.15	0.48705	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99862	0.9935	M	0.90759	3.145	0.58432	D	0.999999	D;D;D;P	0.89917	0.974;1.0;0.979;0.876	P;D;P;P	0.91635	0.703;0.999;0.868;0.728	D	0.96589	0.9436	10	0.87932	D	0	-8.7531	12.741	0.57253	0.0:0.0:0.8346:0.1654	rs55832599	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	267;267;267;267;267;256;135	ENSP00000352610:R267W;ENSP00000269305:R267W;ENSP00000398846:R267W;ENSP00000391127:R267W;ENSP00000391478:R267W;ENSP00000425104:R135W	ENSP00000269305:R267W	R	-	1	2	TP53	7517864	0.998000	0.40836	0.876000	0.34364	0.812000	0.45895	2.565000	0.45939	1.360000	0.45960	0.462000	0.41574	CGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	7	0	0	0	1	0	5	7				
EVPL	2125	broad.mit.edu	37	17	74003665	74003665	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:74003665C>T	ENST00000301607.3	-	22	5874	c.5621G>A	c.(5620-5622)cGt>cAt	p.R1874H	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1874	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTAGCGCTCACGGCTGAGCAG	0.627																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5620-5622)cGt>cAt		envoplakin							93.0	90.0	91.0					17																	74003665		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003665C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5621G>A	17.37:g.74003665C>T	ENSP00000301607:p.Arg1874His					EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	p.R1874H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5874	-			1874			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5621G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019990	0.54576	.	.	ENSG00000167880	ENST00000301607	T	0.73047	-0.71	5.48	5.48	0.80851	.	0.258445	0.38111	N	0.001807	T	0.73768	0.3629	L	0.29908	0.895	0.27027	N	0.964327	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.66192	-0.5985	10	0.33940	T	0.23	-28.1358	12.6684	0.56855	0.0:0.9248:0.0:0.0752	.	1896;1874	B7ZLH8;Q92817	.;EVPL_HUMAN	H	1874	ENSP00000301607:R1874H	ENSP00000301607:R1874H	R	-	2	0	EVPL	71515260	0.989000	0.36119	0.991000	0.47740	0.737000	0.42083	2.514000	0.45503	2.564000	0.86499	0.561000	0.74099	CGT		0.627	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	138	0	0	0	1	0	4	138				
L1TD1	54596	broad.mit.edu	37	1	62676147	62676147	+	Silent	SNP	T	T	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:62676147T>C	ENST00000498273.1	+	4	1996	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	567										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGAGTCATGATGAGCATAAAA	0.423																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1699-1701)gaT>gaC		LINE-1 type transposase domain containing 1							80.0	78.0	79.0					1																	62676147		2203	4300	6503	SO:0001819	synonymous_variant	54596							g.chr1:62676147T>C	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1701T>C	1.37:g.62676147T>C							p.D567D	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN			4	1996	+			567					Q8NDA1|Q9NUV8|Q9NV78	Silent	SNP	ENST00000498273.1	37	c.1701T>C	CCDS619.1																																																																																				0.423	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		18	42	0	0	0	1	0	18	42				
ARHGEF15	22899	broad.mit.edu	37	17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(385-387)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 15							68.0	70.0	69.0					17																	8215743		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8215743C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.386C>T	17.37:g.8215743C>T	ENSP00000355026:p.Thr129Met					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			2	496	+			129			Pro-rich.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.386C>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	C	0.624	-0.819827	0.02776	.	.	ENSG00000198844	ENST00000361926;ENST00000421050	T;T	0.71817	-0.6;-0.6	4.87	2.89	0.33648	.	2.365140	0.01590	N	0.021519	T	0.58018	0.2093	N	0.19112	0.55	0.09310	N	1	B;B	0.15930	0.015;0.015	B;B	0.09377	0.004;0.004	T	0.41787	-0.9489	10	0.28530	T	0.3	0.2461	7.6286	0.28226	0.0:0.8068:0.0:0.1932	.	129;129	D3DTR7;O94989	.;ARHGF_HUMAN	M	129	ENSP00000355026:T129M;ENSP00000412505:T129M	ENSP00000355026:T129M	T	+	2	0	ARHGEF15	8156468	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.784000	0.26816	0.672000	0.31204	-0.263000	0.10527	ACG		0.672	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		53	31	0	0	0	1	0	53	31				
MEPE	56955	broad.mit.edu	37	4	88766136	88766136	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:88766136delA	ENST00000424957.3	+	4	189	c.116delA	c.(115-117)gaafs	p.E39fs	MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Frame_Shift_Del_p.E15fs|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000540395.1_5'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	39					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TAGCAGGAAGAAAAAAACAAA	0.259																																						ENST00000497649.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(43-45)gafs		matrix extracellular phosphoglycoprotein			,,,,	0,4252		0,0,2126					,,,,	5.0	0.8			3	4,8218		1,2,4108	no	frameshift,utr-5,utr-5,utr-5,frameshift	MEPE	NM_020203.3,NM_001184697.1,NM_001184696.1,NM_001184695.1,NM_001184694.1	,,,,	1,2,6234	A1A1,A1R,RR		0.0486,0.0,0.0321	,,,,	,,,,		4,12470				SO:0001589	frameshift_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88766136delA	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.116delA	4.37:g.88766136delA	ENSP00000416984:p.Glu39fs					MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000424957.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000540395.1_5'UTR	p.E15fs			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	6	422	+		Hepatocellular(203;0.114)	39					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Frame_Shift_Del	DEL	ENST00000424957.3	37	c.44delA	CCDS3625.1																																																																																				0.259	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			13	23						13	23	---	---	---	---
GSX1	219409	broad.mit.edu	37	13	28367943	28367944	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr13:28367943_28367944insT	ENST00000302945.2	+	2	701_702	c.653_654insT	c.(652-657)ggtgccfs	p.A219fs		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	219	Poly-Gly.				adenohypophysis development (GO:0021984)|hypothalamus development (GO:0021854)|neuron fate commitment (GO:0048663)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ggcggcgggggtgccggtggtg	0.629																																						ENST00000302945.2																			0				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(652-654)ggcfs		GS homeobox 1																																				SO:0001589	frameshift_variant	219409				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:28367943_28367944insT	AB044157	CCDS9326.1	13q12.2	2012-03-09		2007-07-26	ENSG00000169840	ENSG00000169840		"""Homeoboxes / ANTP class : HOXL subclass"""	20374	protein-coding gene	gene with protein product				GSH1			Standard	NM_145657		Approved	Gsh-1	uc001urr.1	Q9H4S2	OTTHUMG00000016637	ENST00000302945.2:c.654dupT	13.37:g.28367944_28367944dupT	ENSP00000304331:p.Ala219fs						p.G218fs	NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)	2	701_702	+		Lung SC(185;0.0161)	218			Poly-Gly.		Q9UD62	Frame_Shift_Ins	INS	ENST00000302945.2	37	c.653_654insT	CCDS9326.1																																																																																				0.629	GSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044309.2	NM_145657		14	26						14	26	---	---	---	---
TCF12	6938	broad.mit.edu	37	15	57524624	57524625	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:57524624_57524625insC	ENST00000267811.5	+	10	1125_1126	c.821_822insC	c.(820-825)cgcttgfs	p.RL274fs	TCF12_ENST00000560764.1_Intron|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.RL104fs|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.RL104fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.RL270fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.RL274fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGCT	0.446			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(820-822)cttfs		transcription factor 12																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57524624_57524625insC	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.822dupC	15.37:g.57524625_57524625dupC	ENSP00000267811:p.Arg274fs					TCF12_ENST00000343827.3_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.L104fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.L270fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.L274fs|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000537840.1_Intron	p.L274fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	10	1125_1126	+		Colorectal(260;0.0907)	274					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Ins	INS	ENST00000267811.5	37	c.821_822insC	CCDS10159.1																																																																																				0.446	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205		34	48						34	48	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37580057	37580059	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:37580057_37580059delGAG	ENST00000394287.3	-	12	1072_1074	c.867_869delCTC	c.(865-870)tcctca>tca	p.289_290SS>S	MED1_ENST00000300651.6_In_Frame_Del_p.289_290SS>S			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGGTGATTGAGGAGAAGGAAG	0.409										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(865-870)tca>tc		mediator complex subunit 1																																				SO:0001651	inframe_deletion	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37580057_37580059delGAG	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.867_869delCTC	17.37:g.37580060_37580062delGAG	ENSP00000377828:p.Ser290del	HNSCC(31;0.082)				MED1_ENST00000394287.3_In_Frame_Del_p.SS289del	p.SS289del	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	12	1090_1092	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	289			Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	In_Frame_Del	DEL	ENST00000394287.3	37	c.867_869delCTC																																																																																					0.409	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		9	44						9	44	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62854706	62854707	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:62854706_62854707insC	ENST00000328439.1	+	16	2886_2887	c.2522_2523insC	c.(2521-2526)gacctcfs	p.L842fs	MYT1_ENST00000536311.1_Frame_Shift_Ins_p.L869fs|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACTCTGCTGACCTCAAGTATG	0.55																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2602-2604)gctfs		myelin transcription factor 1																																				SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854706_62854707insC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2524dupC	20.37:g.62854708_62854708dupC	ENSP00000327465:p.Leu842fs					MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.A841fs	p.A868fs			Q01538	MYT1_HUMAN			16	2967_2968	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		841					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	c.2603_2604insC	CCDS13558.1																																																																																				0.550	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		61	133						61	133	---	---	---	---
