#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBXN10	127733	broad.mit.edu	37	1	20517106	20517106	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:20517106G>A	ENST00000375099.3	+	2	136	c.52G>A	c.(52-54)Gtc>Atc	p.V18I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	18										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						TAGCACTGTTGTCAGCACAGC	0.517																																						ENST00000375099.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						c.(52-54)Gtc>Atc		UBX domain protein 10							97.0	89.0	91.0					1																	20517106		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517106G>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.52G>A	1.37:g.20517106G>A	ENSP00000364240:p.Val18Ile		Somatic					p.V18I	NM_152376.3	NP_689589.1	WXS	Illumina GAIIx	Phase_I	Q96LJ8	UBX10_HUMAN			2	136	+			18					Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.52G>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.028266	0.00410	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.1	0.54	0.17163	.	1.395620	0.04945	N	0.459237	T	0.13970	0.0338	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21690	-1.0238	9	0.06236	T	0.91	-0.7739	2.9758	0.05937	0.1692:0.2629:0.4461:0.1219	.	18	Q96LJ8	UBX10_HUMAN	I	18	.	ENSP00000364240:V18I	V	+	1	0	UBXN10	20389693	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.593000	0.05740	0.172000	0.19760	-0.254000	0.11334	GTC		0.517	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		18	76	18	76	---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36563588	36563588	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:36563588C>T	ENST00000397799.1	-	4	1918	c.1694G>A	c.(1693-1695)gGg>gAg	p.G565E	COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E|COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	565	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCGCCCAGCCCAAACTGTGG	0.677																																						ENST00000397799.1																			0				NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1693-1695)gGg>gAg		collagen, type VIII, alpha 2							20.0	20.0	20.0					1																	36563588		2200	4295	6495	SO:0001583	missense	1296				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr1:36563588C>T	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1694G>A	1.37:g.36563588C>T	ENSP00000380901:p.Gly565Glu		Somatic				COL8A2_ENST00000481785.1_Missense_Mutation_p.G500E|COL8A2_ENST00000303143.4_Missense_Mutation_p.G565E	p.G565E			WXS	Illumina GAIIx	Phase_I	P25067	CO8A2_HUMAN			4	1918	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	565			Nonhelical region (NC1).		Q5JV31|Q8TEJ5	Missense_Mutation	SNP	ENST00000397799.1	37	c.1694G>A	CCDS403.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958546	0.53400	.	.	ENSG00000171812	ENST00000303143;ENST00000397799;ENST00000481785;ENST00000373172	D;D;D	0.91068	-2.78;-2.78;-2.77	4.2	4.2	0.49525	.	0.109282	0.64402	D	0.000005	D	0.87712	0.6246	M	0.64997	1.995	0.54753	D	0.999989	P	0.50943	0.94	B	0.42959	0.403	D	0.86509	0.1808	10	0.02654	T	1	.	17.0876	0.86615	0.0:1.0:0.0:0.0	.	565	P25067	CO8A2_HUMAN	E	565;565;500;289	ENSP00000305913:G565E;ENSP00000380901:G565E;ENSP00000436433:G500E	ENSP00000305913:G565E	G	-	2	0	COL8A2	36336175	0.958000	0.32768	1.000000	0.80357	0.807000	0.45602	3.100000	0.50275	2.335000	0.79485	0.462000	0.41574	GGG		0.677	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313674.1	NM_005202		7	15	7	15	---	---	---	---
AGL	178	broad.mit.edu	37	1	100382037	100382037	+	Missense_Mutation	SNP	A	A	G	rs143815159	byFrequency	TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr1:100382037A>G	ENST00000294724.4	+	32	4809	c.4331A>G	c.(4330-4332)aAt>aGt	p.N1444S	AGL_ENST00000370161.2_Missense_Mutation_p.N1428S|AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000361302.3_Missense_Mutation_p.N1428S	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1444					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AAAGGTTTCAATTATCACCAA	0.264													A|||	7	0.00139776	0.0015	0.0014	5008	,	,		16302	0.001		0.0	False		,,,				2504	0.0031					ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4330-4332)aAt>aGt		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	6,4400	11.4+/-27.6	0,6,2197	86.0	90.0	89.0		4331,4331,4331,4331,4280,4283	5.9	1.0	1	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	46,46,46,46,46,46	0,7,6495	GG,GA,AA		0.0116,0.1362,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1444/1533,1444/1533,1444/1533,1444/1533,1427/1516,1428/1517	100382037	7,12997	2203	4299	6502	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100382037A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4331A>G	1.37:g.100382037A>G	ENSP00000294724:p.Asn1444Ser		Somatic				AGL_ENST00000361302.3_Missense_Mutation_p.N1428S|AGL_ENST00000361522.4_Missense_Mutation_p.N1427S|AGL_ENST00000370165.3_Missense_Mutation_p.N1444S|AGL_ENST00000361915.3_Missense_Mutation_p.N1444S|AGL_ENST00000370163.3_Missense_Mutation_p.N1444S|AGL_ENST00000370161.2_Missense_Mutation_p.N1428S	p.N1444S	NM_000028.2	NP_000019.2	WXS	Illumina GAIIx	Phase_I	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	32	4809	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1444					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.4331A>G	CCDS759.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	A	23.0	4.365554	0.82463	0.001362	1.16E-4	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.89	5.89	0.94794	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.77820	2.39	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.75484	0.976;0.976;0.986	T	0.82311	-0.0520	10	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	1427;1428;1444	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	S	1444;1444;1444;1444;1428;1428;1427	ENSP00000355106:N1444S;ENSP00000359184:N1444S;ENSP00000359182:N1444S;ENSP00000294724:N1444S;ENSP00000354971:N1428S;ENSP00000359180:N1428S;ENSP00000354635:N1427S	ENSP00000294724:N1444S	N	+	2	0	AGL	100154625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.246000	0.74042	0.533000	0.62120	AAT		0.264	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		7	30	7	30	---	---	---	---
DTX3L	151636	broad.mit.edu	37	3	122283293	122283293	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr3:122283293C>T	ENST00000296161.4	+	1	209	c.20C>T	c.(19-21)cCg>cTg	p.P7L	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	7					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CACCTGCGCCCGCCGTCCCCG	0.736																																						ENST00000296161.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(19-21)cCg>cTg		deltex 3-like (Drosophila)							17.0	22.0	20.0					3																	122283293		2199	4293	6492	SO:0001583	missense	151636				histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:122283293C>T		CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.20C>T	3.37:g.122283293C>T	ENSP00000296161:p.Pro7Leu		Somatic				PARP9_ENST00000477522.2_5'UTR|PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.P7L	p.P7L	NM_138287.3	NP_612144.1	WXS	Illumina GAIIx	Phase_I	Q8TDB6	DTX3L_HUMAN		GBM - Glioblastoma multiforme(114;0.0459)	1	209	+			7					B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	ENST00000296161.4	37	c.20C>T	CCDS3015.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842695	0.71488	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.60797	0.44;0.16	4.7	4.7	0.59300	.	0.000000	0.44902	D	0.000406	T	0.73505	0.3595	M	0.69823	2.125	0.43080	D	0.994738	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77016	-0.2744	10	0.87932	D	0	-14.3404	12.9988	0.58664	0.0:1.0:0.0:0.0	.	7;7	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	L	7	ENSP00000296161:P7L;ENSP00000373157:P7L	ENSP00000296161:P7L	P	+	2	0	DTX3L	123765983	0.024000	0.19004	0.994000	0.49952	0.273000	0.26683	1.209000	0.32357	2.400000	0.81607	0.655000	0.94253	CCG		0.736	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355966.1	NM_138287		5	20	5	20	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35084650	35084650	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:35084650A>T	ENST00000382002.5	-	5	721	c.295T>A	c.(295-297)Tac>Aac	p.Y99N	PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	99	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATCATGATGTATGTCCTCCAC	0.483																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(295-297)Tac>Aac		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						231.0	216.0	221.0					5																	35084650		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35084650A>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.295T>A	5.37:g.35084650A>T	ENSP00000371432:p.Tyr99Asn		Somatic				PRLR_ENST00000397391.3_Missense_Mutation_p.Y28N|PRLR_ENST00000310101.5_Missense_Mutation_p.Y99N|PRLR_ENST00000511486.1_Intron|PRLR_ENST00000542609.1_Missense_Mutation_p.Y99N|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000513753.1_Missense_Mutation_p.Y99N|PRLR_ENST00000231423.3_Missense_Mutation_p.Y99N|PRLR_ENST00000342362.5_Intron|PRLR_ENST00000348262.3_Missense_Mutation_p.Y99N	p.Y99N	NM_000949.5	NP_000940.1	WXS	Illumina GAIIx	Phase_I	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		5	721	-	all_lung(31;3.83e-05)		99			Fibronectin type-III 1.		B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.295T>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219927	0.58560	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000397391;ENST00000542609;ENST00000382002;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330	T;T;T;D;T;T;T;T;T;T	0.97772	-0.08;-0.08;-0.08;-4.53;-0.08;-0.08;-0.08;-0.08;-0.08;-0.08	5.78	5.78	0.91487	Fibronectin, type III (3);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.052982	0.85682	D	0.000000	D	0.98887	0.9623	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;0.999	D	0.99755	1.1019	10	0.87932	D	0	-18.4552	15.0964	0.72238	1.0:0.0:0.0:0.0	.	99;99;28;99;99;99	P16471-3;P16471;Q8TD76;P16471-7;P16471-6;P16471-4	.;PRLR_HUMAN;.;.;.;.	N	99;99;99;28;99;99;99;99;99;99	ENSP00000231423:Y99N;ENSP00000424841:Y99N;ENSP00000311613:Y99N;ENSP00000380546:Y28N;ENSP00000441813:Y99N;ENSP00000371432:Y99N;ENSP00000309008:Y99N;ENSP00000423493:Y99N;ENSP00000427060:Y99N;ENSP00000422385:Y99N	ENSP00000231423:Y99N	Y	-	1	0	PRLR	35120407	1.000000	0.71417	0.574000	0.28523	0.025000	0.11179	8.030000	0.88816	2.220000	0.72140	0.533000	0.62120	TAC		0.483	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			4	128	4	128	---	---	---	---
CCNH	902	broad.mit.edu	37	5	86707138	86707138	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:86707138A>G	ENST00000256897.4	-	2	367	c.143T>C	c.(142-144)cTt>cCt	p.L48P	CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000508855.1_5'Flank|CCNH_ENST00000513499.1_5'UTR	NM_001239.3	NP_001230.1	P51946	CCNH_HUMAN	cyclin H	48					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cyclin-dependent protein kinase activating kinase holoenzyme complex (GO:0019907)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|TFIIK complex (GO:0070985)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		ATGAGGCTCAAGAAAGACTGG	0.343								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000256897.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15						c.(142-144)cTt>cCt	Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)	cyclin H							110.0	104.0	106.0					5																	86707138		2203	4300	6503	SO:0001583	missense	902				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	g.chr5:86707138A>G	U12685	CCDS4064.1	5q13.3-q14	2014-03-28			ENSG00000134480	ENSG00000134480		"""General transcription factor IIH complex subunits"""	1594	protein-coding gene	gene with protein product	"""CDK-activating kinase complex subunit"", ""cyclin-dependent kinase-activating kinase complex subunit"", ""MO15-associated protein"", ""CAK complex subunit"""	601953				9465303	Standard	NM_001239		Approved	p34, p37, CycH	uc003kjb.3	P51946	OTTHUMG00000119077	ENST00000256897.4:c.143T>C	5.37:g.86707138A>G	ENSP00000256897:p.Leu48Pro		Somatic				CCNH_ENST00000504878.1_5'UTR|CCNH_ENST00000513499.1_5'UTR	p.L48P	NM_001239.3	NP_001230.1	WXS	Illumina GAIIx	Phase_I	P51946	CCNH_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)	2	367	-		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	48					Q53X72|Q8TBL9	Missense_Mutation	SNP	ENST00000256897.4	37	c.143T>C	CCDS4064.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824198	0.90955	.	.	ENSG00000134480	ENST00000256897	T	0.20200	2.09	6.17	6.17	0.99709	Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.52403	0.1732	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.56456	-0.7976	9	.	.	.	-16.8401	16.8222	0.85835	1.0:0.0:0.0:0.0	.	48	P51946	CCNH_HUMAN	P	48	ENSP00000256897:L48P	.	L	-	2	0	CCNH	86742894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.130000	0.89598	2.371000	0.80710	0.533000	0.62120	CTT		0.343	CCNH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239291.3	NM_001239		6	45	6	45	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178585819	178585819	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr5:178585819G>A	ENST00000251582.7	-	6	1138	c.1037C>T	c.(1036-1038)gCc>gTc	p.A346V	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	346	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTGGAGGTAGGCCCAGCGGCA	0.592																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1036-1038)gCc>gTc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							118.0	104.0	109.0					5																	178585819		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178585819G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1037C>T	5.37:g.178585819G>A	ENSP00000251582:p.Ala346Val		Somatic				ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A346V	p.A346V	NM_014244.4	NP_055059.2	WXS	Illumina GAIIx	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	6	1138	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	346			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1037C>T	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669250	0.96754	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86769	-2.17;-2.17	5.79	5.79	0.91817	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.56097	D	0.000031	D	0.92280	0.7551	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.994;0.999	D	0.92102	0.5689	10	0.59425	D	0.04	.	19.0316	0.92959	0.0:0.0:1.0:0.0	.	346;346	O95450-2;O95450	.;ATS2_HUMAN	V	346	ENSP00000251582:A346V;ENSP00000274609:A346V	ENSP00000251582:A346V	A	-	2	0	ADAMTS2	178518425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.675000	0.98638	2.731000	0.93534	0.650000	0.86243	GCC		0.592	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		7	59	7	59	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76576719	76576719	+	Missense_Mutation	SNP	A	A	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr6:76576719A>T	ENST00000369977.3	+	18	1980	c.1841A>T	c.(1840-1842)gAt>gTt	p.D614V	MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V|RNA5SP209_ENST00000411237.1_RNA|snoU13_ENST00000459013.1_RNA|MYO6_ENST00000369981.3_Missense_Mutation_p.D614V	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	614	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCAGAGATAAGTTTATA	0.318																																						ENST00000369981.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1840-1842)gAt>gTt		myosin VI							76.0	75.0	75.0					6																	76576719		2203	4299	6502	SO:0001583	missense	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76576719A>T	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1841A>T	6.37:g.76576719A>T	ENSP00000358994:p.Asp614Val		Somatic				MYO6_ENST00000369977.3_Missense_Mutation_p.D614V|MYO6_ENST00000369975.1_Missense_Mutation_p.D614V|MYO6_ENST00000369985.4_Missense_Mutation_p.D614V	p.D614V			WXS	Illumina GAIIx	Phase_I	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	18	2120	+		all_hematologic(105;0.189)	614			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	ENST00000369977.3	37	c.1841A>T	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984053	0.74474	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.77557	0.986;0.99	D	0.85455	0.1163	10	0.16896	T	0.51	.	15.7396	0.77882	1.0:0.0:0.0:0.0	.	614;614	Q9UM54-2;Q9UM54-1	.;.	V	614	ENSP00000358998:D614V;ENSP00000359002:D614V;ENSP00000358994:D614V;ENSP00000358992:D614V	ENSP00000358992:D614V	D	+	2	0	MYO6	76633439	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.883000	0.92426	2.179000	0.69175	0.528000	0.53228	GAT		0.318	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		12	24	12	24	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113267504	113267504	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr8:113267504C>A	ENST00000297405.5	-	62	10259	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3339	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGATGAACCACTCCAAGTG	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10015-10017)Ggt>Tgt		CUB and Sushi multiple domains 3							126.0	115.0	118.0					8																	113267504		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113267504C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10015G>T	8.37:g.113267504C>A	ENSP00000297405:p.Gly3339Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_ENST00000343508.3_Missense_Mutation_p.G3299C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3269C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3170C	p.G3339C	NM_198123.1	NP_937756.1	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			62	10259	-			3339			Sushi 26.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10015G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403634	0.62288	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.2	5.2	0.72013	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.73992	0.3658	H	0.98786	4.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.936	D	0.85317	0.1082	10	0.87932	D	0	.	18.9452	0.92620	0.0:1.0:0.0:0.0	.	3170;3339;3299	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3299;3339;2609;3170;3269	ENSP00000345799:G3299C;ENSP00000297405:G3339C;ENSP00000341558:G2609C;ENSP00000412263:G3170C;ENSP00000343124:G3269C	ENSP00000297405:G3339C	G	-	1	0	CSMD3	113336680	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	7.581000	0.82535	2.712000	0.92718	0.655000	0.94253	GGT		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		19	52	19	52	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87362425	87362425	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr10:87362425G>T	ENST00000327946.7	-	16	2720	c.2635C>A	c.(2635-2637)Cgc>Agc	p.R879S	RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R450S|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	879					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTGTTCATGCGCCGGTGGACC	0.577										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(2635-2637)Cgc>Agc		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						45.0	38.0	40.0					10																	87362425		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87362425G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2635C>A	10.37:g.87362425G>T	ENSP00000330148:p.Arg879Ser	Multiple Myeloma(13;0.14)	Somatic				GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R450S	p.R879S	NM_017551.2	NP_060021.1	WXS	Illumina GAIIx	Phase_I	Q9ULK0	GRID1_HUMAN			16	2720	-			879					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.2635C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683661	0.88639	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.16457	2.6;2.34	5.74	5.74	0.90152	.	0.472007	0.23204	N	0.050742	T	0.41259	0.1151	L	0.58101	1.795	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.08166	-1.0735	10	0.72032	D	0.01	.	18.8961	0.92424	0.0:0.0:1.0:0.0	.	879	Q9ULK0	GRID1_HUMAN	S	879;450	ENSP00000330148:R879S;ENSP00000444455:R450S	ENSP00000330148:R879S	R	-	1	0	GRID1	87352405	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.987000	0.88182	2.703000	0.92315	0.591000	0.81541	CGC		0.577	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		3	20	3	20	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123886347	123886347	+	Silent	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr11:123886347C>T	ENST00000320891.4	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CAGGGCTGGACGCCCTCCTCT	0.582																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(64-66)gaC>gaT		olfactory receptor, family 10, subfamily G, member 4							160.0	110.0	127.0					11																	123886347		2202	4297	6499	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886347C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.66C>T	11.37:g.123886347C>T			Somatic					p.D22D	NM_001004462.1	NP_001004462.1	WXS	Illumina GAIIx	Phase_I	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	66	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	22					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.66C>T	CCDS31702.1																																																																																				0.582	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		41	77	41	77	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40849769	40849769	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:40849769C>T	ENST00000264638.4	+	22	3983	c.3766C>T	c.(3766-3768)Ctt>Ttt	p.L1256F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1256					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TATGCCACGTCTTGTTTCAGA	0.562																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3766-3768)Ctt>Ttt		contactin associated protein 1							177.0	172.0	174.0					17																	40849769		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40849769C>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3766C>T	17.37:g.40849769C>T	ENSP00000264638:p.Leu1256Phe		Somatic				CTD-3193K9.3_ENST00000592440.1_RNA	p.L1256F	NM_003632.2	NP_003623.1	WXS	Illumina GAIIx	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	22	3983	+		Breast(137;0.000143)	1256						Missense_Mutation	SNP	ENST00000264638.4	37	c.3766C>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	1.638	-0.517163	0.04171	.	.	ENSG00000108797	ENST00000264638	D	0.90004	-2.6	5.48	3.24	0.37175	.	0.382752	0.22753	N	0.056050	T	0.69984	0.3172	N	0.08118	0	0.09310	N	1	B	0.33379	0.41	B	0.25291	0.059	T	0.58036	-0.7707	10	0.25106	T	0.35	.	4.5385	0.12045	0.1935:0.586:0.1307:0.0898	.	1256	P78357	CNTP1_HUMAN	F	1256	ENSP00000264638:L1256F	ENSP00000264638:L1256F	L	+	1	0	CNTNAP1	38103295	0.013000	0.17824	0.157000	0.22605	0.339000	0.28857	1.130000	0.31393	2.564000	0.86499	0.650000	0.86243	CTT		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		5	123	5	123	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9085096	9085096	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9085096G>T	ENST00000397910.4	-	1	6922	c.6719C>A	c.(6718-6720)cCt>cAt	p.P2240H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2240	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCATCTGAAGGTGTGTCAAT	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6718-6720)cCt>cAt		mucin 16, cell surface associated							112.0	107.0	109.0					19																	9085096		1970	4173	6143	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085096G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6719C>A	19.37:g.9085096G>T	ENSP00000381008:p.Pro2240His		Somatic					p.P2240H	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	6922	-			2240			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6719C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	0.743	-0.775494	0.02951	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	0.225	0.225	0.15325	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.41360	-0.9513	7	0.87932	D	0	.	.	.	.	.	2240	B5ME49	.	H	2240	ENSP00000381008:P2240H	ENSP00000381008:P2240H	P	-	2	0	MUC16	8946096	0.082000	0.21442	0.060000	0.19600	0.064000	0.16182	0.792000	0.26929	0.300000	0.22699	0.305000	0.20034	CCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	19	11	19	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9086805	9086805	+	Silent	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:9086805A>G	ENST00000397910.4	-	1	5213	c.5010T>C	c.(5008-5010)agT>agC	p.S1670S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1670	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGCTGTAGAACTTCTTCTTT	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5008-5010)agT>agC		mucin 16, cell surface associated							101.0	99.0	99.0					19																	9086805		2000	4176	6176	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086805A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5010T>C	19.37:g.9086805A>G			Somatic					p.S1670S	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	5213	-			1670			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.5010T>C	CCDS54212.1																																																																																				0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	79	5	79	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44933129	44933129	+	Silent	SNP	G	G	A			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr19:44933129G>A	ENST00000588931.1	-	6	2260	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Silent_p.F603F|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	609					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)				AGCTGTAGATGAAACCCTTCC	0.557																																						ENST00000291187.4																			0				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						c.(1807-1809)ttC>ttT		zinc finger protein 229							73.0	79.0	77.0					19																	44933129		2178	4293	6471	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933129G>A	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.1827C>T	19.37:g.44933129G>A			Somatic				ZNF229_ENST00000588931.1_Silent_p.F609F|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	p.F603F	NM_001278510.1	NP_001265439.1	WXS	Illumina GAIIx	Phase_I	Q9UJW7	ZN229_HUMAN			6	2131	-		Prostate(69;0.0352)	609					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1809C>T	CCDS42574.1																																																																																				0.557	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		14	65	14	65	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14306920	14306920	+	Silent	SNP	A	A	G			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr20:14306920A>G	ENST00000378053.3	-	2	1489	c.1233T>C	c.(1231-1233)atT>atC	p.I411I	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	411	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTAATTGTAATTGTTTTTC	0.458																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1231-1233)atT>atC		fibronectin leucine rich transmembrane protein 3							162.0	159.0	160.0					20																	14306920		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306920A>G	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1233T>C	20.37:g.14306920A>G			Somatic				MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Silent_p.I411I|MACROD2_ENST00000310348.4_Intron	p.I411I	NM_013281.3	NP_037413.1	WXS	Illumina GAIIx	Phase_I	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1489	-		Colorectal(1;0.0464)	411			Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1233T>C	CCDS13121.1																																																																																				0.458	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		50	143	50	143	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579402	7579418	+	Frame_Shift_Del	DEL	AGATGACAGGGGCCAGG	AGATGACAGGGGCCAGG	-			TCGA-KC-A7F6-01A-11D-A33T-08	TCGA-KC-A7F6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2de10b8-8e9d-4cf0-bc63-b624df4eca9d	6b09169a-4356-4d2b-a82b-0ac0e7bceb74	g.chr17:7579402_7579418delAGATGACAGGGGCCAGG	ENST00000269305.4	-	4	458_474	c.269_285delCCTGGCCCCTGTCATCT	c.(268-285)tcctggcccctgtcatctfs	p.SWPLSS90fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs	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	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; 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.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(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)	AAGGGACAGAAGATGACAGGGGCCAGGAGGGGGCTGG	0.631		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"""		67	Substitution - Nonsense(23)|Deletion - Frameshift(22)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - In frame(3)|Insertion - Frameshift(2)	p.W91*(20)|p.0?(8)|p.L93fs*30(5)|p.A88fs*32(3)|p.S95F(3)|p.A76_S90del15(3)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.S94fs*29(1)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.S96fs*53(1)|p.P92fs*57(1)|p.S94fs*54(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)	lung(16)|breast(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(6)|skin(5)|prostate(4)|bone(4)|central_nervous_system(3)|large_intestine(2)|oesophagus(2)|stomach(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM065495	TP53	M		c.(268-285)tcctggcccctgtcatctfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7579402_7579418delAGATGACAGGGGCCAGG	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.269_285delCCTGGCCCCTGTCATCT	17.37:g.7579402_7579418delAGATGACAGGGGCCAGG	ENSP00000269305:p.Ser90fs	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)	Somatic				TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPLSS90fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.SWPLSS90fs	p.SWPLSS90fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	401_417	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	90		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.269_285delCCTGGCCCCTGTCATCT	CCDS11118.1																																																																																				0.631	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	31	28	31	---	---	---	---
