#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
MTOR	2475	broad.mit.edu	37	1	11210249	11210249	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11210249T>C	ENST00000361445.4	-	31	4580	c.4504A>G	c.(4504-4506)Acc>Gcc	p.T1502A	MTOR-AS1_ENST00000420480.1_RNA|RNU6-537P_ENST00000517277.1_RNA|MTOR-AS1_ENST00000445982.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1502	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTAACCAGGGTCCACTTTTCA	0.478																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(4504-4506)Acc>Gcc		mechanistic target of rapamycin (serine/threonine kinase)							77.0	68.0	71.0					1																	11210249		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11210249T>C	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4504A>G	1.37:g.11210249T>C	ENSP00000354558:p.Thr1502Ala						p.T1502A	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			31	4580	-			1502			FAT.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.4504A>G	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	8.866	0.948183	0.18356	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.63744	-0.06	5.01	5.01	0.66863	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.057002	0.64402	D	0.000001	T	0.37404	0.1002	N	0.04297	-0.235	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	10	0.08179	T	0.78	-11.9871	15.0318	0.71713	0.0:0.0:0.0:1.0	.	1502	P42345	MTOR_HUMAN	A	1502	ENSP00000354558:T1502A	ENSP00000354558:T1502A	T	-	1	0	MTOR	11132836	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.853000	0.69496	2.008000	0.58898	0.533000	0.62120	ACC		0.478	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		5	21	0	0	0	1	0	5	21				
ZBBX	79740	broad.mit.edu	37	3	166960306	166960306	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:166960306C>A	ENST00000392766.2	-	20	2603	c.2263G>T	c.(2263-2265)Gtt>Ttt	p.V755F	ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F|ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	755						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCCTCAACTCCACAGGGA	0.358																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(2263-2265)Gtt>Ttt		zinc finger, B-box domain containing							89.0	83.0	85.0					3																	166960306		1811	4067	5878	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:166960306C>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.2263G>T	3.37:g.166960306C>A	ENSP00000376519:p.Val755Phe					ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F|ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F	p.V755F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			20	2603	-			755					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.2263G>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	C	12.96	2.093711	0.36952	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.62	-1.38	0.09027	.	0.865709	0.09824	N	0.751114	T	0.20820	0.0501	N	0.08118	0	0.09310	N	1	B;B	0.18741	0.02;0.03	B;B	0.17098	0.017;0.011	T	0.16571	-1.0398	10	0.34782	T	0.22	-0.747	1.1713	0.01826	0.24:0.388:0.118:0.254	.	794;755	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	755;755;794;794;726	ENSP00000376519:V755F;ENSP00000376520:V755F;ENSP00000390232:V794F;ENSP00000305065:V794F;ENSP00000376517:V726F	ENSP00000305065:V794F	V	-	1	0	ZBBX	168443000	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.630000	0.05502	-0.011000	0.14247	0.591000	0.81541	GTT		0.358	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		16	25	1	0	6.72482e-11	1	7.14513e-11	16	25				
FTMT	94033	broad.mit.edu	37	5	121188192	121188192	+	Silent	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:121188192C>T	ENST00000321339.1	+	1	543	c.534C>T	c.(532-534)caC>caT	p.H178H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	178	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.H178H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGAATTGCACGCTCTAGCCT	0.507																																						ENST00000321339.1																			1	Substitution - coding silent(1)	p.H178H(1)	breast(1)	NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(532-534)caC>caT		ferritin mitochondrial							135.0	125.0	129.0					5																	121188192		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121188192C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.534C>T	5.37:g.121188192C>T							p.H178H	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	543	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	178			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.534C>T	CCDS4128.1																																																																																				0.507	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		68	24	0	0	0	1	0	68	24				
MAD2L2	10459	broad.mit.edu	37	1	11736124	11736124	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11736124C>T	ENST00000235310.3	-	8	1334	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MAD2L2_ENST00000376692.4_Missense_Mutation_p.V136I|MAD2L2_ENST00000376669.5_Missense_Mutation_p.V149I|MAD2L2_ENST00000376672.1_Missense_Mutation_p.V149I|MAD2L2_ENST00000376667.3_Missense_Mutation_p.V136I			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	136	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Mediates interaction with REV1 and REV3L and homodimerization.				actin filament organization (GO:0007015)|DNA damage response, signal transduction resulting in transcription (GO:0042772)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|zeta DNA polymerase complex (GO:0016035)	JUN kinase binding (GO:0008432)|RNA polymerase II activating transcription factor binding (GO:0001102)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCCAGGACGGCATCGCAC	0.582								DNA polymerases (catalytic subunits)																														ENST00000235310.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(406-408)Gtc>Atc	DNA polymerases (catalytic subunits)	MAD2 mitotic arrest deficient-like 2 (yeast)							78.0	74.0	75.0					1																	11736124		2203	4300	6503	SO:0001583	missense	10459				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding	g.chr1:11736124C>T	AF139365	CCDS134.1	1p36	2013-01-17	2001-11-28		ENSG00000116670	ENSG00000116670		"""DNA polymerases"""	6764	protein-coding gene	gene with protein product	"""mitotic arrest deficient homolog-like 2"", ""polymerase (DNA-directed), zeta 2, accessory subunit"""	604094	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 2"""			10366450	Standard	NM_006341		Approved	MAD2B, REV7, POLZ2	uc009vnc.3	Q9UI95	OTTHUMG00000002231	ENST00000235310.3:c.406G>A	1.37:g.11736124C>T	ENSP00000235310:p.Val136Ile					MAD2L2_ENST00000376692.4_Missense_Mutation_p.V136I|MAD2L2_ENST00000376667.3_Missense_Mutation_p.V136I|MAD2L2_ENST00000376669.5_Missense_Mutation_p.V149I|MAD2L2_ENST00000376672.1_Missense_Mutation_p.V149I	p.V136I			Q9UI95	MD2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	8	1334	-	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	136			HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.		B3KNE3|Q5TGW7|Q9UNA7|Q9Y6I6	Missense_Mutation	SNP	ENST00000235310.3	37	c.406G>A	CCDS134.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578396	0.45902	.	.	ENSG00000116670	ENST00000376692;ENST00000235310;ENST00000376672;ENST00000376669;ENST00000376667;ENST00000376664;ENST00000445656;ENST00000456915	.	.	.	5.03	4.12	0.48240	DNA-binding HORMA (4);	0.178848	0.48767	D	0.000162	T	0.38374	0.1038	L	0.43152	1.355	0.58432	D	0.999999	P	0.42203	0.773	B	0.30401	0.115	T	0.21621	-1.0240	9	0.33141	T	0.24	-28.0216	12.1288	0.53932	0.0:0.9161:0.0:0.0839	.	136	Q9UI95	MD2L2_HUMAN	I	136;136;149;149;136;112;166;136	.	ENSP00000235310:V136I	V	-	1	0	MAD2L2	11658711	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	4.471000	0.60182	1.131000	0.42111	-0.251000	0.11542	GTC		0.582	MAD2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006344.2	NM_006341		6	26	0	0	0	1	0	6	26				
POLE	5426	broad.mit.edu	37	12	133226399	133226399	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:133226399A>G	ENST00000320574.5	-	30	3702	c.3659T>C	c.(3658-3660)cTg>cCg	p.L1220P	POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1220					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGGTGAGGCAGCTTTACGAG	0.602								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3658-3660)cTg>cCg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							70.0	63.0	65.0					12																	133226399		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133226399A>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3659T>C	12.37:g.133226399A>G	ENSP00000322570:p.Leu1220Pro					POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	p.L1220P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	30	3702	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1220					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3659T>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	a	7.630	0.678586	0.14841	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000503265	T;T;T;T	0.14144	4.18;4.18;4.19;2.53	5.89	-0.705	0.11252	.	0.749114	0.13634	N	0.373443	T	0.02012	0.0063	N	0.00210	-1.845	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41963	-0.9479	10	0.22109	T	0.4	.	0.1682	0.00110	0.251:0.1965:0.2484:0.3041	.	1193;1220	F5H1D6;Q07864	.;DPOE1_HUMAN	P	1220;1231;1193;1000;197;24	ENSP00000322570:L1220P;ENSP00000406383:L1231P;ENSP00000445753:L1193P;ENSP00000442519:L1000P	ENSP00000322570:L1220P	L	-	2	0	POLE	131736472	0.656000	0.27385	0.004000	0.12327	0.002000	0.02628	0.969000	0.29370	-0.150000	0.11195	-1.378000	0.01179	CTG		0.602	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		8	61	0	0	0	1	0	8	61				
CDH4	1002	broad.mit.edu	37	20	60485631	60485631	+	Missense_Mutation	SNP	G	G	A	rs143730774	byFrequency	TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:60485631G>A	ENST00000360469.5	+	9	1430	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	CDH4_ENST00000543233.1_Missense_Mutation_p.V374I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	448	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACAGACCCCGTAACCAACGA	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		20362	0.0		0.0	False		,,,				2504	0.002					ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(1342-1344)Gta>Ata		cadherin 4, type 1, R-cadherin (retinal)		G	ILE/VAL	0,4406		0,0,2203	108.0	80.0	90.0		1342	1.6	0.2	20	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH4	NM_001794.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	448/917	60485631	1,13005	2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60485631G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1342G>A	20.37:g.60485631G>A	ENSP00000353656:p.Val448Ile					CDH4_ENST00000543233.1_Missense_Mutation_p.V374I	p.V448I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		9	1430	+			448			Cadherin 3.		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.1342G>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	g	6.123	0.390907	0.11581	0.0	1.16E-4	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.37915	1.17;1.17	4.66	1.57	0.23409	Cadherin (4);Cadherin-like (1);	0.317314	0.32868	N	0.005558	T	0.24736	0.0600	L	0.38692	1.165	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.18178	-1.0345	9	.	.	.	.	9.6192	0.39710	0.2917:0.0:0.7083:0.0	.	448	P55283	CADH4_HUMAN	I	448;356;374	ENSP00000353656:V448I;ENSP00000443301:V374I	.	V	+	1	0	CDH4	59919026	0.000000	0.05858	0.211000	0.23655	0.092000	0.18411	0.111000	0.15458	0.416000	0.25844	0.556000	0.70494	GTA		0.597	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		20	33	0	0	0	1	0	20	33				
PDZD2	23037	broad.mit.edu	37	5	32089965	32089965	+	Silent	SNP	A	A	G			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:32089965A>G	ENST00000438447.1	+	20	6799	c.6411A>G	c.(6409-6411)gcA>gcG	p.A2137A	PDZD2_ENST00000282493.3_Silent_p.A2137A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2137					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAGGTCGCAGAATCATCCA	0.542																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6409-6411)gcA>gcG		PDZ domain containing 2							99.0	96.0	97.0					5																	32089965		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089965A>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6411A>G	5.37:g.32089965A>G						PDZD2_ENST00000282493.3_Silent_p.A2137A	p.A2137A			O15018	PDZD2_HUMAN			20	6799	+			2137					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.6411A>G	CCDS34137.1																																																																																				0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			38	57	0	0	0	1	0	38	57				
LPHN2	23266	broad.mit.edu	37	1	82417719	82417719	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:82417719G>A	ENST00000370728.1	+	11	2320	c.1675G>A	c.(1675-1677)Gta>Ata	p.V559I	LPHN2_ENST00000370717.2_Missense_Mutation_p.V559I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370713.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370730.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370721.1_Missense_Mutation_p.V497I|LPHN2_ENST00000271029.4_Missense_Mutation_p.V559I|LPHN2_ENST00000370727.1_Missense_Mutation_p.V559I|LPHN2_ENST00000335786.5_Missense_Mutation_p.V559I|LPHN2_ENST00000359929.3_Missense_Mutation_p.V559I|LPHN2_ENST00000370715.1_Missense_Mutation_p.V559I|LPHN2_ENST00000394879.1_Missense_Mutation_p.V559I|LPHN2_ENST00000319517.6_Missense_Mutation_p.V559I|LPHN2_ENST00000370725.1_Missense_Mutation_p.V559I			O95490	LPHN2_HUMAN	latrophilin 2	559					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCTGGGGATGTAAGTTCTTC	0.433																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1675-1677)Gta>Ata		latrophilin 2							138.0	116.0	123.0					1																	82417719		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417719G>A	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1675G>A	1.37:g.82417719G>A	ENSP00000359763:p.Val559Ile					LPHN2_ENST00000271029.4_Missense_Mutation_p.V559I|LPHN2_ENST00000370713.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370715.1_Missense_Mutation_p.V559I|LPHN2_ENST00000319517.6_Missense_Mutation_p.V559I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.V559I|LPHN2_ENST00000370730.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370721.1_Missense_Mutation_p.V497I|LPHN2_ENST00000370723.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370725.1_Missense_Mutation_p.V559I|LPHN2_ENST00000335786.5_Missense_Mutation_p.V559I|LPHN2_ENST00000370727.1_Missense_Mutation_p.V559I|LPHN2_ENST00000359929.3_Missense_Mutation_p.V559I|LPHN2_ENST00000394879.1_Missense_Mutation_p.V559I	p.V559I			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	11	2320	+			559					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1675G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.85|10.85	1.465846|1.465846	0.26335|0.26335	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10382	.|2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.062152	.|0.64402	.|D	.|0.000005	T|T	0.05777|0.05777	0.0151|0.0151	L|L	0.38838|0.38838	1.175|1.175	0.51767|0.51767	D|D	0.999937|0.999937	.|B;B;B	.|0.22746	.|0.074;0.027;0.074	.|B;B;B	.|0.25291	.|0.059;0.02;0.059	T|T	0.36114|0.36114	-0.9761|-0.9761	5|10	.|0.17832	.|T	.|0.49	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|559;559;559	.|O95490-3;O95490-4;O95490-2	.|.;.;.	I|I	426|497;559;559;559;559;559;559;559;559;559;559;559;559;559	.|ENSP00000359756:V497I;ENSP00000359763:V559I;ENSP00000359765:V559I;ENSP00000359762:V559I;ENSP00000359760:V559I;ENSP00000359758:V559I;ENSP00000353006:V559I;ENSP00000359750:V559I;ENSP00000359748:V559I;ENSP00000322270:V559I;ENSP00000359752:V559I;ENSP00000378344:V559I;ENSP00000271029:V559I;ENSP00000337306:V559I	.|ENSP00000271029:V559I	M|V	+|+	3|1	0|0	LPHN2|LPHN2	82190307|82190307	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.496000|6.496000	0.73670|0.73670	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.433	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		30	41	0	0	0	1	0	30	41				
SHPRH	257218	broad.mit.edu	37	6	146264543	146264543	+	Silent	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr6:146264543G>A	ENST00000367505.2	-	9	2238	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000367503.3_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	658					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TACACTCAAAGCGGTAATCAG	0.418																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1972-1974)cgC>cgT		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							132.0	123.0	126.0					6																	146264543		1958	4154	6112	SO:0001819	synonymous_variant	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264543G>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1974C>T	6.37:g.146264543G>A						SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R|SHPRH_ENST00000367505.2_Silent_p.R658R	p.R658R	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2372	-		Ovarian(120;0.0365)	658					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Silent	SNP	ENST00000367505.2	37	c.1974C>T	CCDS43513.2																																																																																				0.418	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		41	65	0	0	0	1	0	41	65				
OR2A12	346525	broad.mit.edu	37	7	143792959	143792959	+	Silent	SNP	C	C	T	rs200437961		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:143792959C>T	ENST00000408949.2	+	1	819	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.562																																						ENST00000408949.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25						c.(757-759)agC>agT		olfactory receptor, family 2, subfamily A, member 12		C		2,3854		0,2,1926	141.0	137.0	138.0		759	0.6	1.0	7		138	5,8289		0,5,4142	no	coding-synonymous	OR2A12	NM_001004135.1		0,7,6068	TT,TC,CC		0.0603,0.0519,0.0576		253/311	143792959	7,12143	1928	4147	6075	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143792959C>T		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.759C>T	7.37:g.143792959C>T							p.S253S	NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN			1	819	+	Melanoma(164;0.0783)		253					Q6IF43	Silent	SNP	ENST00000408949.2	37	c.759C>T	CCDS43670.1																																																																																				0.562	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			124	121	0	0	0	1	0	124	121				
CPT1C	126129	broad.mit.edu	37	19	50214114	50214114	+	Splice_Site	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr19:50214114G>A	ENST00000392518.4	+	16	2238	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	CPT1C_ENST00000405931.2_Splice_Site_p.T611T|CPT1C_ENST00000598293.1_Splice_Site_p.T622T|CPT1C_ENST00000323446.5_Splice_Site_p.T622T|CPT1C_ENST00000354199.5_Splice_Site_p.T622T	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	622					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AAGAGAAGACGGTGGGTGCAG	0.567																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.e16+1		carnitine palmitoyltransferase 1C							44.0	43.0	43.0					19																	50214114		2203	4300	6503	SO:0001630	splice_region_variant	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50214114G>A	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1866+1G>A	19.37:g.50214114G>A						CPT1C_ENST00000354199.5_Splice_Site_p.T622_splice|CPT1C_ENST00000323446.5_Splice_Site_p.T622_splice|CPT1C_ENST00000405931.2_Splice_Site_p.T611_splice|CPT1C_ENST00000598293.1_Splice_Site_p.T622_splice	p.T622_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	16	2238	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	622					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Splice_Site	SNP	ENST00000392518.4	37	c.1866_splice	CCDS12779.1																																																																																				0.567	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	Silent	23	32	0	0	0	1	0	23	32				
GALNT8	26290	broad.mit.edu	37	12	4874639	4874639	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:4874639C>T	ENST00000252318.2	+	10	2025	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	563	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A563V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTGGCAAGGCGGAGAAGCCC	0.463																																					Colon(108;631 1558 7270 20097 39846)	ENST00000252318.2																			1	Substitution - Missense(1)	p.A563V(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(1687-1689)gCg>gTg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)							124.0	118.0	120.0					12																	4874639		2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4874639C>T	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1688C>T	12.37:g.4874639C>T	ENSP00000252318:p.Ala563Val						p.A563V	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN			10	2025	+			563			Ricin B-type lectin.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.1688C>T	CCDS8533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.402959|2.402959	0.42613|0.42613	.|.	.|.	ENSG00000130035|ENSG00000130035	ENST00000252318|ENST00000542998;ENST00000535354	T|.	0.30448|.	1.53|.	4.19|4.19	3.3|3.3	0.37823|0.37823	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.544168|.	0.16565|.	N|.	0.208875|.	T|T	0.36799|0.36799	0.0980|0.0980	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	D|.	0.58620|.	0.983|.	P|.	0.45310|.	0.476|.	T|T	0.20371|0.20371	-1.0277|-1.0277	10|5	0.66056|.	D|.	0.02|.	.|.	9.6776|9.6776	0.40050|0.40050	0.0:0.2271:0.7729:0.0|0.0:0.2271:0.7729:0.0	.|.	563|.	Q9NY28|.	GALT8_HUMAN|.	V|W	563|80;59	ENSP00000252318:A563V|.	ENSP00000252318:A563V|.	A|R	+|+	2|1	0|2	GALNT8|GALNT8	4744900|4744900	1.000000|1.000000	0.71417|0.71417	0.026000|0.026000	0.17262|0.17262	0.004000|0.004000	0.04260|0.04260	3.747000|3.747000	0.55134|0.55134	0.966000|0.966000	0.38159|0.38159	-0.165000|-0.165000	0.13383|0.13383	GCG|CGG		0.463	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417		15	5	0	0	0	1	0	15	5				
ZBTB16	7704	broad.mit.edu	37	11	114113039	114113039	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr11:114113039G>A	ENST00000335953.4	+	5	1984	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R535H|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	535					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R535H(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTCTCAAACGCCACCTGCGC	0.597																																						ENST00000335953.4																			1	Substitution - Missense(1)	p.R535H(1)	endometrium(1)	central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1603-1605)cGc>cAc		zinc finger and BTB domain containing 16							45.0	37.0	39.0					11																	114113039		2201	4296	6497	SO:0001583	missense	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114113039G>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1604G>A	11.37:g.114113039G>A	ENSP00000338157:p.Arg535His					ZBTB16_ENST00000392996.2_Missense_Mutation_p.R535H|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	p.R535H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	5	1984	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	535					Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	c.1604G>A	CCDS8367.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028958	0.93518	.	.	ENSG00000109906	ENST00000335953;ENST00000392996;ENST00000310883	T;T	0.26810	1.71;1.71	5.65	4.71	0.59529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.129675	0.48286	D	0.000196	T	0.41627	0.1167	L	0.45137	1.4	0.49130	D	0.99975	D	0.89917	1.0	D	0.64687	0.928	T	0.24119	-1.0169	10	0.48119	T	0.1	-18.3181	15.9068	0.79436	0.0:0.0:0.8636:0.1364	.	535	Q05516	ZBT16_HUMAN	H	535;535;412	ENSP00000338157:R535H;ENSP00000376721:R535H	ENSP00000309507:R412H	R	+	2	0	ZBTB16	113618249	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.725000	0.98778	1.454000	0.47793	0.655000	0.94253	CGC		0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		20	28	0	0	0	1	0	20	28				
APOL5	80831	broad.mit.edu	37	22	36123054	36123054	+	Silent	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:36123054C>T	ENST00000249044.2	+	3	939	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	313					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCCTGCAGAGCTGGAAGCACC	0.582																																						ENST00000249044.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						c.(937-939)agC>agT		apolipoprotein L, 5							56.0	56.0	56.0					22																	36123054		2203	4300	6503	SO:0001819	synonymous_variant	80831				lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding	g.chr22:36123054C>T	AY014878	CCDS13920.1	22q12.3	2013-01-24			ENSG00000128313	ENSG00000128313		"""Apolipoproteins"""	14869	protein-coding gene	gene with protein product		607255				11374903	Standard	NM_030642		Approved	APOLV	uc003aof.3	Q9BWW9	OTTHUMG00000150588	ENST00000249044.2:c.939C>T	22.37:g.36123054C>T							p.S313S	NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN			3	939	+			313					Q5TFL9|Q9UGW5	Silent	SNP	ENST00000249044.2	37	c.939C>T	CCDS13920.1																																																																																				0.582	APOL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318979.1	NM_030642		32	57	0	0	0	1	0	32	57				
GIMAP5	55340	broad.mit.edu	37	7	150439591	150439591	+	Missense_Mutation	SNP	C	C	T	rs202237347		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:150439591C>T	ENST00000358647.3	+	3	731	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	122	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.R122C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGGGGCGTTTCACTGC	0.582																																						ENST00000358647.3																			1	Substitution - Missense(1)	p.R122C(1)	large_intestine(1)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(364-366)Cgt>Tgt		GTPase, IMAP family member 5		C	CYS/ARG,CYS/ARG	0,4406		0,0,2203	75.0	75.0	75.0		976,364	4.2	0.9	7		75	2,8598	3.0+/-9.4	0,2,4298	no	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	326/512,122/308	150439591	2,13004	2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439591C>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.364C>T	7.37:g.150439591C>T	ENSP00000351473:p.Arg122Cys					GIMAP5_ENST00000479556.1_3'UTR	p.R122C	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	731	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.364C>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223673	0.79576	0.0	2.33E-4	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.08458	3.09	4.15	4.15	0.48705	AIG1 (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.90977	3.165	0.53005	D	0.999966	D	0.89917	1.0	D	0.79108	0.992	T	0.35895	-0.9770	10	0.87932	D	0	.	11.7844	0.52034	0.0:1.0:0.0:0.0	.	122	Q96F15	GIMA5_HUMAN	C	122;158	ENSP00000351473:R122C	ENSP00000351473:R122C	R	+	1	0	GIMAP5	150070524	0.000000	0.05858	0.945000	0.38365	0.813000	0.45954	0.074000	0.14662	2.143000	0.66587	0.655000	0.94253	CGT		0.582	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		78	80	0	0	0	1	0	78	80				
SLA2	84174	broad.mit.edu	37	20	35261966	35261966	+	Silent	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:35261966G>A	ENST00000262866.4	-	4	680	c.258C>T	c.(256-258)caC>caT	p.H86H	SLA2_ENST00000360672.2_Silent_p.H86H	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	86	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTTTGGCCACGTGGACGCTGG	0.587																																					Ovarian(59;720 1165 26994 46188 51693)	ENST00000262866.4																			0				endometrium(1)|lung(2)|skin(2)	5						c.(256-258)caC>caT		Src-like-adaptor 2							131.0	111.0	118.0					20																	35261966		2203	4300	6503	SO:0001819	synonymous_variant	84174				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity	g.chr20:35261966G>A	AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"""SH2 domain containing"""	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.258C>T	20.37:g.35261966G>A						SLA2_ENST00000360672.2_Silent_p.H86H	p.H86H	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN			4	680	-	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	86			SH3.		A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	ENST00000262866.4	37	c.258C>T	CCDS13282.1																																																																																				0.587	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077		38	44	0	0	0	1	0	38	44				
SOGA1	140710	broad.mit.edu	37	20	35443639	35443639	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:35443639C>T	ENST00000357779.3	-	5	1818	c.1492G>A	c.(1492-1494)Ggg>Agg	p.G498R	SOGA1_ENST00000237536.4_Missense_Mutation_p.G736R|SOGA1_ENST00000456801.2_Missense_Mutation_p.G339R|SOGA1_ENST00000279034.6_Missense_Mutation_p.G498R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	498					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G736R(3)|p.G498R(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACAGAGCACCCGAGGACTGCA	0.607																																						ENST00000237536.4																			4	Substitution - Missense(4)	p.G736R(3)|p.G498R(1)	lung(4)	endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2206-2208)Ggg>Agg		suppressor of glucose, autophagy associated 1							73.0	84.0	80.0					20																	35443639		2188	4284	6472	SO:0001583	missense	140710							g.chr20:35443639C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1492G>A	20.37:g.35443639C>T	ENSP00000350424:p.Gly498Arg					SOGA1_ENST00000456801.2_Missense_Mutation_p.G339R|SOGA1_ENST00000357779.3_Missense_Mutation_p.G498R|SOGA1_ENST00000279034.5_Missense_Mutation_p.G498R	p.G736R	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2547	-			498					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.2206G>A		.	.	.	.	.	.	.	.	.	.	C	11.29	1.596032	0.28445	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.18174	2.24;2.23;2.24;2.25	5.2	5.2	0.72013	.	0.377810	0.27686	N	0.018261	T	0.39091	0.1065	M	0.63843	1.955	0.49389	D	0.999784	D	0.89917	1.0	D	0.72982	0.979	T	0.01814	-1.1268	10	0.30078	T	0.28	-44.4907	17.6614	0.88193	0.0:1.0:0.0:0.0	.	498	O94964-4	.	R	736;498;339;498	ENSP00000237536:G736R;ENSP00000279034:G498R;ENSP00000413886:G339R;ENSP00000350424:G498R	ENSP00000237536:G736R	G	-	1	0	KIAA0889	34877053	0.000000	0.05858	0.050000	0.19076	0.015000	0.08874	0.866000	0.27954	2.706000	0.92434	0.561000	0.74099	GGG		0.607	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		16	95	0	0	0	1	0	16	95				
EPHA1	2041	broad.mit.edu	37	7	143095499	143095499	+	Missense_Mutation	SNP	G	G	C	rs202178565		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:143095499G>C	ENST00000275815.3	-	7	1465	c.1379C>G	c.(1378-1380)cCg>cGg	p.P460R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	460	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TAGTTGCCTCGGTTCTTTCTT	0.552																																						ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(1378-1380)cCg>cGg		EPH receptor A1							53.0	56.0	55.0					7																	143095499		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143095499G>C	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1379C>G	7.37:g.143095499G>C	ENSP00000275815:p.Pro460Arg						p.P460R	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			7	1465	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	460			Fibronectin type-III 2.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.1379C>G	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614191	0.28712	.	.	ENSG00000146904	ENST00000275815	T	0.58210	0.35	5.08	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.232852	0.30840	N	0.008774	T	0.57125	0.2032	L	0.41961	1.31	0.30219	N	0.796987	D	0.65815	0.995	D	0.66351	0.943	T	0.49799	-0.8901	10	0.06891	T	0.86	.	12.122	0.53897	0.0:0.173:0.827:0.0	.	460	P21709	EPHA1_HUMAN	R	460	ENSP00000275815:P460R	ENSP00000275815:P460R	P	-	2	0	EPHA1	142805621	0.062000	0.20869	0.914000	0.36105	0.937000	0.57800	1.072000	0.30678	2.517000	0.84864	0.655000	0.94253	CCG		0.552	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			12	62	0	0	0	1	0	12	62				
TNIK	23043	broad.mit.edu	37	3	170805169	170805169	+	Missense_Mutation	SNP	C	C	T	rs201681163		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:170805169C>T	ENST00000436636.2	-	24	3192	c.2848G>A	c.(2848-2850)Gtc>Atc	p.V950I	TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000357327.5_Missense_Mutation_p.V921I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	950	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGGGTTGAGACGCGCCCCAGT	0.572																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(2848-2850)Gtc>Atc		TRAF2 and NCK interacting kinase							75.0	78.0	77.0					3																	170805169		2013	4181	6194	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170805169C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2848G>A	3.37:g.170805169C>T	ENSP00000399511:p.Val950Ile					TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000357327.5_Missense_Mutation_p.V921I	p.V950I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3192	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		950			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2848G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162146	0.38217	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.65;-0.64;-0.66;-0.66;-0.66;-0.66;-0.66;-0.65;-0.66	5.93	4.16	0.48862	.	0.474184	0.20697	N	0.087341	T	0.54854	0.1884	N	0.22421	0.69	0.33475	D	0.586747	B;P;B;B;P;P;B;P	0.44195	0.001;0.828;0.001;0.001;0.828;0.828;0.001;0.736	B;B;B;B;B;B;B;B	0.41440	0.003;0.357;0.003;0.003;0.357;0.357;0.003;0.195	T	0.58983	-0.7539	10	0.11182	T	0.66	.	12.3977	0.55395	0.0:0.8654:0.0:0.1346	.	858;913;887;866;942;921;895;950	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	950;928;902;866;942;858;921;887;895;913	ENSP00000399511:V950I;ENSP00000358332:V928I;ENSP00000443278:V902I;ENSP00000345352:V866I;ENSP00000284483:V942I;ENSP00000418156:V858I;ENSP00000349880:V921I;ENSP00000418916:V887I;ENSP00000418378:V895I;ENSP00000419990:V913I	ENSP00000284483:V942I	V	-	1	0	TNIK	172287863	0.999000	0.42202	0.449000	0.26957	0.753000	0.42808	3.411000	0.52672	0.863000	0.35553	0.655000	0.94253	GTC		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		41	57	0	0	0	1	0	41	57				
TAF1L	138474	broad.mit.edu	37	9	32632097	32632097	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr9:32632097C>T	ENST00000242310.4	-	1	3570	c.3481G>A	c.(3481-3483)Gga>Aga	p.G1161R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1161					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATTGTTTCCTGATGCTGCT	0.493																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(3481-3483)Gga>Aga		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							223.0	167.0	186.0					9																	32632097		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632097C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3481G>A	9.37:g.32632097C>T	ENSP00000418379:p.Gly1161Arg						p.G1161R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3570	-			1161					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3481G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.445111	0.25987	.	.	ENSG00000122728	ENST00000242310	T	0.16196	2.36	0.479	0.479	0.16796	.	0.334685	0.34932	N	0.003562	T	0.12987	0.0315	L	0.54323	1.7	0.32523	N	0.535988	B	0.14012	0.009	B	0.12156	0.007	T	0.15492	-1.0435	10	0.19590	T	0.45	.	6.6915	0.23174	0.0:0.9998:0.0:2.0E-4	.	1161	Q8IZX4	TAF1L_HUMAN	R	1161	ENSP00000418379:G1161R	ENSP00000418379:G1161R	G	-	1	0	TAF1L	32622097	1.000000	0.71417	0.985000	0.45067	0.454000	0.32378	1.247000	0.32815	0.507000	0.28148	0.195000	0.17529	GGA		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			10	84	0	0	0	1	0	10	84				
TP53	7157	broad.mit.edu	37	17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr17:7578509A>C	ENST00000269305.4	-	5	610	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.C141G	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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)	TGCACAGGGCAGGTCTTGGCC	0.567		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"""		47	Substitution - Missense(19)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Insertion - Frameshift(4)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(1)	ovary(11)|large_intestine(7)|breast(7)|central_nervous_system(5)|bone(4)|upper_aerodigestive_tract(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|prostate(2)|biliary_tract(1)|lung(1)|oesophagus(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.(421-423)Tgc>Ggc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	56.0					17																	7578509		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.chr17:7578509A>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.421T>G	17.37:g.7578509A>C	ENSP00000269305:p.Cys141Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G	p.C141G	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)	5	553	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.421T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.246323	0.39697	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99746	0.9899	M	0.90309	3.105	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.997;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;0.99;1.0;0.996;1.0;1.0	D	0.97919	1.0313	10	0.87932	D	0	-26.1094	9.8103	0.40820	0.918:0.0:0.082:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141G;ENSP00000352610:C141G;ENSP00000269305:C141G;ENSP00000398846:C141G;ENSP00000391127:C141G;ENSP00000391478:C141G;ENSP00000425104:C9G;ENSP00000423862:C48G;ENSP00000424104:C141G	ENSP00000269305:C141G	C	-	1	0	TP53	7519234	1.000000	0.71417	0.996000	0.52242	0.026000	0.11368	5.164000	0.64954	1.020000	0.39573	-0.256000	0.11100	TGC		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	16	0	0	0	1	0	21	16				
ASIC5	51802	broad.mit.edu	37	4	156784879	156784879	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr4:156784879A>C	ENST00000537611.2	-	2	114	c.68T>G	c.(67-69)cTt>cGt	p.L23R	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	23					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										TTTCTTTGAAAGGCAAAGCTT	0.358																																						ENST00000537611.2																			0											c.(67-69)cTt>cGt		acid-sensing (proton-gated) ion channel family member 5							89.0	91.0	90.0					4																	156784879		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156784879A>C	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.68T>G	4.37:g.156784879A>C	ENSP00000442477:p.Leu23Arg					TDO2_ENST00000506181.1_Intron	p.L23R	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			2	114	-			23						Missense_Mutation	SNP	ENST00000537611.2	37	c.68T>G	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	A	9.980	1.228001	0.22542	.	.	ENSG00000256394	ENST00000537611	T	0.68765	-0.35	4.34	4.34	0.51931	.	0.000000	0.50627	D	0.000106	T	0.77329	0.4114	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	T	0.74639	-0.3598	10	0.18276	T	0.48	0.0026	14.2364	0.65929	1.0:0.0:0.0:0.0	.	23	Q9NY37	ACCN5_HUMAN	R	23	ENSP00000442477:L23R	ENSP00000264432:L23R	L	-	2	0	ACCN5	157004329	1.000000	0.71417	0.144000	0.22314	0.125000	0.20455	5.891000	0.69782	1.919000	0.55581	0.528000	0.53228	CTT		0.358	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			30	38	0	0	0	1	0	30	38				
ALPK3	57538	broad.mit.edu	37	15	85403130	85403130	+	Silent	SNP	T	T	G			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr15:85403130T>G	ENST00000258888.5	+	8	4862	c.4695T>G	c.(4693-4695)ccT>ccG	p.P1565P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1565					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCAGCCCTGAGGGTGAGT	0.652																																						ENST00000258888.5																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(4693-4695)ccT>ccG		alpha-kinase 3							62.0	62.0	62.0					15																	85403130		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85403130T>G	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4695T>G	15.37:g.85403130T>G							p.P1565P	NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		8	4862	+			1565					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.4695T>G	CCDS10333.1																																																																																				0.652	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		50	62	0	0	0	1	0	50	62				
CCT6P3	643180	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gaggcggtggcggcggcggca	0.786																																						ENST00000426828.1																			0																																																			0							g.chr7:64498737C>A			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498737C>A								NR_033416.1						0	0	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.786	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			3	5	1	0	0.004672	1	0.00481358	3	5				
GTF2E2	2961	broad.mit.edu	37	8	30436473	30436473	+	Silent	SNP	G	G	A			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr8:30436473G>A	ENST00000355904.4	-	8	1123	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	281					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TAATCCTTCAGCACTCCAGCC	0.433																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(841-843)Ctg>Ttg		general transcription factor IIE, polypeptide 2, beta 34kDa							173.0	156.0	162.0					8																	30436473		2203	4300	6503	SO:0001819	synonymous_variant	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30436473G>A	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.841C>T	8.37:g.30436473G>A							p.L281L	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	8	1123	-			281					D3DSV2|Q9H2B9	Silent	SNP	ENST00000355904.4	37	c.841C>T	CCDS6078.1																																																																																				0.433	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		33	7	0	0	0	1	0	33	7				
PI4KA	5297	broad.mit.edu	37	22	21173958	21173958	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:21173958T>C	ENST00000572273.1	-	6	816	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	PI4KA_ENST00000255882.6_Missense_Mutation_p.K254E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	196					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCTGGTTTTCCTCTTCAGG	0.542																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(760-762)Aaa>Gaa		phosphatidylinositol 4-kinase, catalytic, alpha							98.0	91.0	94.0					22																	21173958		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21173958T>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.586A>G	22.37:g.21173958T>C	ENSP00000458238:p.Lys196Glu					PI4KA_ENST00000572273.1_Missense_Mutation_p.K196E	p.K254E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		6	846	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	196					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.760A>G		.	.	.	.	.	.	.	.	.	.	T	12.67	2.008123	0.35415	.	.	ENSG00000241973	ENST00000255882	.	.	.	4.74	4.74	0.60224	.	0.144428	0.64402	D	0.000008	T	0.47801	0.1465	L	0.51422	1.61	0.80722	D	1	B;B	0.32467	0.372;0.085	B;B	0.27796	0.083;0.016	T	0.43458	-0.9390	9	0.12766	T	0.61	-25.5036	14.6953	0.69118	0.0:0.0:0.0:1.0	.	254;196	D3DX33;P42356	.;PI4KA_HUMAN	E	196	.	ENSP00000255882:K196E	K	-	1	0	PI4KA	19503958	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.787000	0.47798	2.121000	0.65114	0.455000	0.32223	AAA		0.542	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		53	55	0	0	0	1	0	53	55				
MRPS25	64432	broad.mit.edu	37	3	15106611	15106611	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:15106611T>C	ENST00000253686.2	-	1	231	c.91A>G	c.(91-93)Aca>Gca	p.T31A	MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A|MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	31						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						TAATTCACTGTCATGACCTTC	0.647																																						ENST00000253686.2																			0				large_intestine(1)|lung(1)	2						c.(91-93)Aca>Gca		mitochondrial ribosomal protein S25							71.0	51.0	58.0					3																	15106611		2202	4299	6501	SO:0001583	missense	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15106611T>C	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.91A>G	3.37:g.15106611T>C	ENSP00000253686:p.Thr31Ala					MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A	p.T31A	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN			1	231	-			31					B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	ENST00000253686.2	37	c.91A>G	CCDS2622.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686298	0.47991	.	.	ENSG00000131368	ENST00000253686;ENST00000449354;ENST00000444840	.	.	.	4.85	4.85	0.62838	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	L	0.49699	1.58	0.80722	D	1	P;P;P	0.52577	0.91;0.954;0.78	B;B;B	0.43950	0.294;0.437;0.192	T	0.43556	-0.9384	9	0.21014	T	0.42	-37.3807	14.1306	0.65250	0.0:0.0:0.0:1.0	.	31;31;31	B4DFJ5;B4DQG6;P82663	.;.;RT25_HUMAN	A	31	.	ENSP00000253686:T31A	T	-	1	0	MRPS25	15081615	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.543000	0.82106	1.811000	0.52892	0.260000	0.18958	ACA		0.647	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		6	10	0	0	0	1	0	6	10				
CTH	1491	broad.mit.edu	37	1	70877212	70877213	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:70877212_70877213insC	ENST00000370938.3	+	1	258_259	c.114_115insC	c.(115-117)cccfs	p.P39fs	CTH_ENST00000346806.2_Frame_Shift_Ins_p.P39fs|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000411986.2_Frame_Shift_Ins_p.P39fs	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGCTGTAGTGCCCCCCATCTC	0.609																																						ENST00000411986.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(112-117)gtccccfs		cystathionase (cystathionine gamma-lyase)	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70877212_70877213insC	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.120dupC	1.37:g.70877218_70877218dupC	ENSP00000359976:p.Pro39fs					CTH_ENST00000370938.3_Frame_Shift_Ins_p.VP38fs|CTH_ENST00000346806.2_Frame_Shift_Ins_p.VP38fs|CTH_ENST00000464926.1_3'UTR	p.VP38fs	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN			1	312_313	+			38					O95791|Q9NX42	Frame_Shift_Ins	INS	ENST00000370938.3	37	c.114_115insC	CCDS650.1																																																																																				0.609	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902		22	33						22	33	---	---	---	---
C16orf74	404550	broad.mit.edu	37	16	85743879	85743881	+	In_Frame_Del	DEL	GCT	GCT	-	rs374238893		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr16:85743879_85743881delGCT	ENST00000284245.4	-	3	244_246	c.61_63delAGC	c.(61-63)agcdel	p.S21del	C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602583.1_In_Frame_Del_p.S9del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	21																	CCTCGTCGTGGCTGCTGCTGCTG	0.635																																						ENST00000602583.1																			0											c.(25-27)del		chromosome 16 open reading frame 74																																				SO:0001651	inframe_deletion	404550							g.chr16:85743879_85743881delGCT	BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.61_63delAGC	16.37:g.85743888_85743890delGCT	ENSP00000284245:p.Ser21del					C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602758.1_Intron	p.S9del			Q96GX8	CP074_HUMAN			1	575_577	-			21						In_Frame_Del	DEL	ENST00000284245.4	37	c.25_27delAGC	CCDS45540.1																																																																																				0.635	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467253.1	NM_206967		2	4						2	4	---	---	---	---
ZXDB	158586	broad.mit.edu	37	X	57618726	57618728	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chrX:57618726_57618728delGCG	ENST00000374888.1	+	1	458_460	c.245_247delGCG	c.(244-249)agcggc>agc	p.G89del		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	89	Poly-Gly.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.G89delG(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GATCAACCTAgcggcggcggcgg	0.759																																						ENST00000374888.1																			2	Deletion - In frame(2)	p.G89delG(2)	prostate(1)|central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(244-249)agc>a		zinc finger, X-linked, duplicated B																																				SO:0001651	inframe_deletion	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618726_57618728delGCG	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.245_247delGCG	X.37:g.57618735_57618737delGCG	ENSP00000364023:p.Gly89del						p.SG82del	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	458_460	+			82					A8K151|Q9UBB3	In_Frame_Del	DEL	ENST00000374888.1	37	c.245_247delGCG	CCDS35313.1																																																																																				0.759	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		4	7						4	7	---	---	---	---
