#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	T	T	T	C	T	T	Verified	Invalid:failed_liftOver	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								7622	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C		2128	0.14	3		NA	NA	NA	7622	3464	12.90	518		Silent	SNP	PatternScan_COX2,HMMPfam_COX2,superfamily_Cupredoxins,HMMPfam_COX2_TM,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^II-like^^_^^transmembrane^^_^^region	p.A12		37	c.36		MT																																																																																			-	HMMPfam_COX2_TM,superfamily_Cytochrome^^_^^c^^_^^oxidase^^_^^subunit^^_^^II-like^^_^^transmembrane^^_^^region	0	0					MT-CO2			T			7622	+1	no_errors	ENST00000361739	ensembl	human	known	54_36p	silent	SNP	NULL	C
ZBTB33	10009	genome.wustl.edu	37	X	119387298	119387298	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chrX:119387298A>C	ENST00000326624.2	+	2	256	c.28A>C	c.(28-30)Aca>Cca	p.T10P	ZBTB33_ENST00000557385.1_Missense_Mutation_p.T10P	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	10	Interaction with NCOR1.|Self-association. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATTTCTGCTACAGACATTCA	0.408																																						dbGAP											0			X											103.0	97.0	99.0					X																	119387298		2203	4300	6503	119271326	SO:0001583	missense	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.28A>C	X.37:g.119387298A>C	ENSP00000314153:p.Thr10Pro	122	1.61	2		1	95.00	19	119271326	47	57.27	63	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.T10P	ENST00000326624.2	37	c.28	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402254	0.62288	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.12039	2.72;2.72	5.96	5.96	0.96718	BTB/POZ fold (2);	0.095841	0.64402	D	0.000001	T	0.15739	0.0379	L	0.41236	1.265	0.53688	D	0.99997	B	0.26483	0.15	B	0.30716	0.119	T	0.02202	-1.1196	10	0.87932	D	0	-13.9531	14.4615	0.67453	1.0:0.0:0.0:0.0	.	10	Q86T24	KAISO_HUMAN	P	10	ENSP00000314153:T10P;ENSP00000450969:T10P	ENSP00000314153:T10P	T	+	1	0	ZBTB33;AC002086.1	119271326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.969000	0.70422	2.014000	0.59158	0.481000	0.45027	ACA	-	superfamily_POZ domain		0.408	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	protein_coding	OTTHUMT00000058085.2	A	NM_006777		119271326	+1	no_errors	NM_006777.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
GJB3	2707	genome.wustl.edu	37	1	35250792	35250792	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr1:35250792C>G	ENST00000373366.2	+	2	1044	c.429C>G	c.(427-429)ttC>ttG	p.F143L	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.F143L	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	143					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCATTGAGTTCCTCTTCCTCT	0.587																																						dbGAP											0			1											232.0	244.0	240.0					1																	35250792		2203	4300	6503	35023379	SO:0001583	missense	0			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"""Ion channels / Gap junction proteins (connexins)"""	4285	protein-coding gene	gene with protein product	"""connexin 31"""	603324	"""gap junction protein, beta 3, 31kD (connexin 31)"", ""gap junction protein, beta 3, 31kDa (connexin 31)"", ""erythrokeratodermia variabilis"""	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.429C>G	1.37:g.35250792C>G	ENSP00000362464:p.Phe143Leu	264	0.75	2		0	100.00	1	35023379	396	26.81	148	B2R790|Q2TAZ8	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC	p.F143L	ENST00000373366.2	37	c.429	CCDS384.1	1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590594	0.28357	.	.	ENSG00000188910	ENST00000373366;ENST00000373362	D;D	0.95035	-3.59;-3.59	5.62	3.68	0.42216	Gap junction protein, cysteine-rich domain (1);	0.655481	0.15714	N	0.248276	D	0.84070	0.5391	N	0.02765	-0.5	0.26115	N	0.980635	B	0.02656	0.0	B	0.09377	0.004	T	0.73161	-0.4070	10	0.29301	T	0.29	.	9.3693	0.38244	0.0:0.6538:0.2722:0.074	.	143	O75712	CXB3_HUMAN	L	143	ENSP00000362464:F143L;ENSP00000362460:F143L	ENSP00000362460:F143L	F	+	3	2	GJB3	35023379	0.274000	0.24191	0.998000	0.56505	0.964000	0.63967	0.050000	0.14120	0.674000	0.31244	0.556000	0.70494	TTC	-	HMMPfam_Connexin_CCC		0.587	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35023379	+1	no_errors	NM_001005752.1	genbank	human	reviewed	54_36p	missense	SNP	0.072	G
CAMKV	79012	genome.wustl.edu	37	3	49896767	49896767	+	Missense_Mutation	SNP	C	C	T	rs149379959		TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr3:49896767C>T	ENST00000477224.1	-	11	1968	c.1490G>A	c.(1489-1491)aGg>aAg	p.R497K	CAMKV_ENST00000296471.7_Missense_Mutation_p.R469K|CAMKV_ENST00000463537.1_Missense_Mutation_p.G429R|TRAIP_ENST00000473863.1_5'Flank|CAMKV_ENST00000466940.1_Missense_Mutation_p.R423K|TRAIP_ENST00000469027.1_5'Flank|CAMKV_ENST00000488336.1_Missense_Mutation_p.R466K|CAMKV_ENST00000467248.1_Missense_Mutation_p.R422K|TRAIP_ENST00000331456.2_5'Flank|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	497						cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTCCTCCCTTTGAGACTC	0.637																																						dbGAP											0			3											56.0	56.0	56.0					3																	49896767		2203	4300	6503	49871771	SO:0001583	missense	0			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1490G>A	3.37:g.49896767C>T	ENSP00000419195:p.Arg497Lys	82	0.00	0		NA	NA	NA	49871771	137	29.29	58	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase	p.R497K	ENST00000477224.1	37	c.1490	CCDS33762.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.72|11.72	1.721679|1.721679	0.30503|0.30503	.|.	.|.	ENSG00000164076|ENSG00000164076	ENST00000463537|ENST00000296471;ENST00000488336;ENST00000477224;ENST00000467248;ENST00000466940	T|T;T;T;T;T	0.67171|0.67698	-0.25|0.54;-0.05;-0.09;-0.28;1.8	5.33|5.33	3.47|3.47	0.39725|0.39725	.|.	.|0.283306	.|0.25427	.|N	.|0.030753	T|T	0.45816|0.45816	0.1361|0.1361	N|N	0.14661|0.14661	0.345|0.345	0.27444|0.27444	N|N	0.95365|0.95365	.|B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.001;0.0;0.001	.|B;B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.0;0.001;0.0;0.0	T|T	0.40942|0.40942	-0.9536|-0.9536	7|10	0.72032|0.66056	D|D	0.01|0.02	.|.	6.7261|6.7261	0.23357|0.23357	0.0:0.7028:0.0:0.2972|0.0:0.7028:0.0:0.2972	.|.	.|423;429;497;422;469;466;497	.|E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.|.;.;.;.;.;.;CAMKV_HUMAN	R|K	429|469;466;497;422;423	ENSP00000417614:G429R|ENSP00000296471:R469K;ENSP00000418809:R466K;ENSP00000419195:R497K;ENSP00000420053:R422K;ENSP00000420724:R423K	ENSP00000417614:G429R|ENSP00000296471:R469K	G|R	-|-	1|2	0|0	CAMKV|CAMKV	49871771|49871771	0.043000|0.043000	0.20138|0.20138	0.989000|0.989000	0.46669|0.46669	0.976000|0.976000	0.68499|0.68499	0.038000|0.038000	0.13862|0.13862	0.748000|0.748000	0.32831|0.32831	-0.345000|-0.345000	0.07892|0.07892	GGG|AGG	-	NULL		0.637	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	protein_coding	OTTHUMT00000350584.4	C	NM_024046		49871771	-1	no_errors	NM_024046.3	genbank	human	validated	54_36p	missense	SNP	0.693	T
Unknown	0	genome.wustl.edu	37	4	43412358	43412358	+	IGR	SNP	G	G	A			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr4:43412358G>A								RP11-1E6.1 (64741 upstream) : RP11-324J13.2 (47185 downstream)																							GCAGGGATGAGGTGCAGCAGC	0.592																																						dbGAP											0			4																																								43107115	SO:0001628	intergenic_variant	0																															4.37:g.43412358G>A		113	0.88	1		NA	NA	NA	43107115	209	27.34	79		RNA	SNP	-	NULL		37	NULL		4																																																																																			-	-	0	0.592					LOC441013			G			43107115	-1	pseudogene	XR_016299.2	genbank	human	model	54_36p	rna	SNP	1.000	A
ALOX5	240	genome.wustl.edu	37	10	45938939	45938939	+	Silent	SNP	C	C	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr10:45938939C>T	ENST00000374391.2	+	11	1580	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Silent_p.F509F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	509	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGCAGGACTTCGTGAACGATG	0.687																																						dbGAP											0			10											56.0	52.0	53.0					10																	45938939		2203	4300	6503	45258945	SO:0001819	synonymous_variant	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1527C>T	10.37:g.45938939C>T		36	0.00	0		30	32.61	15	45258945	124	26.32	45	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_2,PatternScan_LIPOXYGENASE_1,superfamily_Lipoxygenase	p.F509	ENST00000374391.2	37	c.1527	CCDS7212.1	10																																																																																			-	HMMPfam_Lipoxygenase,superfamily_Lipoxygenase		0.687	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	C			45258945	+1	no_errors	NM_000698.2	genbank	human	reviewed	54_36p	silent	SNP	0.944	T
XRCC6P1	387703	genome.wustl.edu	37	10	94966689	94966689	+	IGR	SNP	G	G	A			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr10:94966689G>A								CYP26A1 (129042 upstream) : MYOF (99497 downstream)																							CATCCACCCGGCAGGCCTCTT	0.587																																						dbGAP											0			10																																								94956679	SO:0001628	intergenic_variant	0																															10.37:g.94966689G>A		201	1.46	3		NA	NA	NA	94956679	410	39.86	277		RNA	SNP	-	NULL		37	NULL		10																																																																																			-	-	0	0.587					LOC387703			G			94956679	-1	pseudogene	XR_016730.2	genbank	human	model	54_36p	rna	SNP	0.943	A
ANO3	63982	genome.wustl.edu	37	11	26663484	26663484	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr11:26663484G>C	ENST00000256737.3	+	22	3035	c.2183G>C	c.(2182-2184)gGa>gCa	p.G728A	ANO3_ENST00000531568.1_Missense_Mutation_p.G582A|ANO3_ENST00000525139.1_Missense_Mutation_p.G712A|ANO3_ENST00000537978.1_Missense_Mutation_p.G712A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	728					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCAAGCGGGGAATACATGAT	0.438																																						dbGAP											0			11											144.0	132.0	136.0					11																	26663484		2203	4299	6502	26620060	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2183G>C	11.37:g.26663484G>C	ENSP00000256737:p.Gly728Ala	283	0.00	0		NA	NA	NA	26620060	364	28.24	144	B7Z3F5	Missense_Mutation	SNP	HMMPfam_DUF590	p.G728A	ENST00000256737.3	37	c.2183	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	8.900	0.956190	0.18507	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	6.07	2.81	0.32909	.	0.562206	0.21174	N	0.078926	T	0.37625	0.1010	N	0.11756	0.17	0.27602	N	0.948933	B;B	0.18310	0.027;0.001	B;B	0.27715	0.082;0.012	T	0.19712	-1.0297	10	0.12430	T	0.62	.	12.9271	0.58266	0.2549:0.0:0.7451:0.0	.	630;728	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	A	712;712;728;630;582	ENSP00000440737:G712A;ENSP00000432576:G712A;ENSP00000256737:G728A;ENSP00000432394:G582A	ENSP00000256737:G728A	G	+	2	0	ANO3	26620060	1.000000	0.71417	0.941000	0.38009	0.976000	0.68499	4.135000	0.57997	0.913000	0.36797	0.655000	0.94253	GGA	-	HMMPfam_DUF590		0.438	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26620060	+1	no_errors	NM_031418.2	genbank	human	validated	54_36p	missense	SNP	0.983	C
FREM2	341640	genome.wustl.edu	37	13	39452970	39452970	+	Silent	SNP	C	C	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr13:39452970C>T	ENST00000280481.7	+	23	9078	c.8862C>T	c.(8860-8862)gaC>gaT	p.D2954D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2954					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTTAAAGGACAAAGCTCAGC	0.428																																						dbGAP											0			13											128.0	118.0	121.0					13																	39452970		2203	4300	6503	38350970	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8862C>T	13.37:g.39452970C>T		184	0.54	1		NA	NA	NA	38350970	208	26.41	75	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	HMMPfam_Calx-beta,HMMSmart_SM00237	p.D2954	ENST00000280481.7	37	c.8862	CCDS31960.1	13																																																																																			-	NULL		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361		38350970	+1	no_errors	NM_207361.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
HERC2	8924	genome.wustl.edu	37	15	28389253	28389253	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr15:28389253G>T	ENST00000261609.7	-	73	11377	c.11269C>A	c.(11269-11271)Ctg>Atg	p.L3757M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAGCTGCCAGCGAGGCCGCA	0.517																																						dbGAP											0			15											105.0	96.0	99.0					15																	28389253		2203	4300	6503	26062848	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11269C>A	15.37:g.28389253G>T	ENSP00000261609:p.Leu3757Met	109	0.00	0		24	36.84	14	26062848	185	27.73	71		Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_Cyt-b5,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMSmart_SM00706,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_MIB_HERC2,PatternScan_PROTEIN_KINASE_ATP	p.L3757M	ENST00000261609.7	37	c.11269	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740130	0.69304	.	.	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76405	-0.2971	10	0.87932	D	0	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	3757	O95714	HERC2_HUMAN	M	3757	ENSP00000261609:L3757M	ENSP00000261609:L3757M	L	-	1	2	HERC2	26062848	1.000000	0.71417	0.759000	0.31340	0.120000	0.20174	6.405000	0.73272	2.783000	0.95769	0.655000	0.94253	CTG	-	NULL		0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	G	NM_004667		26062848	-1	no_errors	NM_004667.4	genbank	human	validated	54_36p	missense	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	SO:0001583	missense	0	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;	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	254	1.93	5		14	84.95	79	7518263	321	46.47	283	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	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	-	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518263	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF229	7772	genome.wustl.edu	37	19	44933535	44933535	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr19:44933535G>C	ENST00000588931.1	-	6	1854	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.S468C|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCTGAGGTGGGAGCTGCAGCT	0.547																																						dbGAP											0			19											83.0	90.0	88.0					19																	44933535		2163	4282	6445	49625375	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1421C>G	19.37:g.44933535G>C	ENSP00000466519:p.Ser474Cys	206	0.00	0		4	33.33	2	49625375	276	32.61	135	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S474C	ENST00000588931.1	37	c.1421	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344295	0.41498	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	3.74	0.42951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65260	0.2674	M	0.76433	2.335	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.55535	-0.8126	8	0.87932	D	0	.	11.131	0.48347	0.0:0.1891:0.8109:0.0	.	474	Q9UJW7	ZN229_HUMAN	C	474	.	ENSP00000291187:S474C	S	-	2	0	ZNF229	49625375	0.000000	0.05858	0.003000	0.11579	0.148000	0.21650	0.660000	0.25009	1.631000	0.50456	0.609000	0.83330	TCC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.547	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	protein_coding	OTTHUMT00000460833.1	G	NM_014518		49625375	-1	no_errors	NM_014518.2	genbank	human	validated	54_36p	missense	SNP	0.205	C
RIN2	54453	genome.wustl.edu	37	20	19956215	19956215	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr20:19956215C>T	ENST00000255006.6	+	8	1842	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	516					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GCGGATGGTCCGCAGGATCGC	0.597																																						dbGAP											0			20											82.0	89.0	87.0					20																	19956215		2023	4182	6205	19904215	SO:0001583	missense	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1693C>T	20.37:g.19956215C>T	ENSP00000255006:p.Arg565Cys	67	0.00	0		6	50.00	6	19904215	198	28.26	78	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain	p.R516C	ENST00000255006.6	37	c.1546	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725826	0.48833	.	.	ENSG00000132669	ENST00000255006	T	0.09630	2.96	5.94	-0.438	0.12268	.	0.706455	0.12252	N	0.485559	T	0.16938	0.0407	L	0.57536	1.79	0.22017	N	0.99941	D	0.63880	0.993	P	0.46885	0.53	T	0.30534	-0.9975	9	.	.	.	-20.5401	17.3704	0.87376	0.7965:0.2035:0.0:0.0	.	516	Q8WYP3	RIN2_HUMAN	C	565	ENSP00000255006:R565C	.	R	+	1	0	RIN2	19904215	0.001000	0.12720	0.887000	0.34795	0.515000	0.34225	0.005000	0.13129	0.051000	0.15978	0.655000	0.94253	CGC	-	NULL		0.597	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	C			19904215	+1	no_errors	NM_018993.2	genbank	human	reviewed	54_36p	missense	SNP	0.801	T
