#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_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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
ABL2	27	broad.mit.edu	37	1	179095523	179095523	+	Missense_Mutation	SNP	C	C	T			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr1:179095523C>T	ENST00000502732.1	-	4	879	c.676G>A	c.(676-678)Gca>Aca	p.A226T	ABL2_ENST00000507173.1_Missense_Mutation_p.A205T|ABL2_ENST00000504405.1_Missense_Mutation_p.A190T|ABL2_ENST00000344730.3_Missense_Mutation_p.A211T|ABL2_ENST00000367623.4_Missense_Mutation_p.A205T|ABL2_ENST00000408940.3_Missense_Mutation_p.A190T|ABL2_ENST00000392043.3_Missense_Mutation_p.A205T|ABL2_ENST00000512653.1_Missense_Mutation_p.A211T|ABL2_ENST00000511413.1_Missense_Mutation_p.A226T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	226	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.A190T(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGCCATCTGCAGTGGTATTG	0.473			T	ETV6	AML																																		Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	1	Substitution - Missense(1)	ovary(1)	1											90.0	79.0	83.0					1																	179095523		2203	4300	6503	177362146	SO:0001583	missense	0			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.676G>A	1.37:g.179095523C>T	ENSP00000427562:p.Ala226Thr		177362146	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911057	0.33721	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	D;D;D;D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	5.51	-2.56	0.06268	SH2 motif (5);	0.592162	0.15085	N	0.281437	T	0.73799	0.3633	N	0.21545	0.675	0.30449	N	0.775481	B;B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.58064	-0.7702	10	0.27082	T	0.32	.	1.706	0.02882	0.1877:0.3352:0.1055:0.3717	.	205;205;226;190;190;205;190;226;211;190;211	P42684-6;P42684-7;P42684-5;P42684-4;P42684-9;P42684-8;P42684-2;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;.;.;.;ABL2_HUMAN;.;.;.	T	226;190;211;211;190;205;205;226;205	ENSP00000427562:A226T;ENSP00000386152:A190T;ENSP00000339209:A211T;ENSP00000423578:A211T;ENSP00000426831:A190T;ENSP00000356595:A205T;ENSP00000423413:A205T;ENSP00000424697:A226T;ENSP00000375897:A205T	ENSP00000339209:A211T	A	-	1	0	ABL2	177362146	0.094000	0.21725	0.848000	0.33437	0.650000	0.38633	-0.304000	0.08199	-0.479000	0.06813	-0.194000	0.12790	GCA		0.473	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
PGBD5	79605	broad.mit.edu	37	1	230498072	230498072	+	Intron	SNP	T	T	C	rs531278155		TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr1:230498072T>C	ENST00000525115.1	-	2	148				PGBD5_ENST00000321327.2_Missense_Mutation_p.N123S|PGBD5_ENST00000391860.1_Intron			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5							integral component of membrane (GO:0016021)		p.N123S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GAGGAATGGATTATAGGGCGG	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											70.0	72.0	71.0					1																	230498072		2203	4300	6503	228564695	SO:0001627	intron_variant	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.125-5005A>G	1.37:g.230498072T>C			228564695	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37		.	.	.	.	.	.	.	.	.	.	T	1.218	-0.627787	0.03610	.	.	ENSG00000177614	ENST00000321327	T	0.18960	2.18	1.32	0.166	0.14999	.	2586.860000	0.00166	N	0.000003	T	0.07188	0.0182	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27536	-1.0071	7	0.06099	T	0.92	.	2.8467	0.05546	0.0:0.4535:0.0:0.5465	.	.	.	.	S	123	ENSP00000322530:N123S	ENSP00000322530:N123S	N	-	2	0	PGBD5	228564695	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.009000	0.13219	0.050000	0.15949	0.416000	0.27883	AAT		0.602	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1	NM_024554	
CSGALNACT2	55454	broad.mit.edu	37	10	43662538	43662538	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr10:43662538C>A	ENST00000374466.3	+	6	1581	c.1246C>A	c.(1246-1248)Cag>Aag	p.Q416K		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	416					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.Q416K(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCTGTGGAGCAGCAGCTGGT	0.373																																																1	Substitution - Missense(1)	ovary(1)	10											63.0	59.0	60.0					10																	43662538		2203	4300	6503	42982544	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1246C>A	10.37:g.43662538C>A	ENSP00000363590:p.Gln416Lys		42982544	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550601	0.86127	.	.	ENSG00000169826	ENST00000374466	T	0.14516	2.5	5.83	5.83	0.93111	.	0.239200	0.46442	D	0.000296	T	0.19805	0.0476	M	0.63843	1.955	0.80722	D	1	B	0.19445	0.036	B	0.18871	0.023	T	0.02512	-1.1148	10	0.30078	T	0.28	-13.794	20.1141	0.97919	0.0:1.0:0.0:0.0	.	416	Q8N6G5	CGAT2_HUMAN	K	416	ENSP00000363590:Q416K	ENSP00000363590:Q416K	Q	+	1	0	CSGALNACT2	42982544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.554000	0.67294	2.757000	0.94681	0.591000	0.81541	CAG		0.373	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590	
COL17A1	1308	broad.mit.edu	37	10	105799749	105799749	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr10:105799749C>A	ENST00000353479.5	-	41	3060	c.2770G>T	c.(2770-2772)Ggc>Tgc	p.G924C	COL17A1_ENST00000369733.3_Intron	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	924	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.G924C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTCTGGGGCCTGGGGGACCT	0.562																																																1	Substitution - Missense(1)	ovary(1)	10											90.0	83.0	85.0					10																	105799749		2203	4300	6503	105789739	SO:0001583	missense	1308			M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.2770G>T	10.37:g.105799749C>A	ENSP00000340937:p.Gly924Cys		105789739	Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	ENST00000353479.5	37	CCDS7554.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791167	0.70452	.	.	ENSG00000065618	ENST00000353479	D	0.84442	-1.85	4.88	4.88	0.63580	.	0.000000	0.38326	N	0.001727	D	0.94716	0.8295	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96063	0.9040	10	0.87932	D	0	-10.1577	13.5247	0.61589	0.0:1.0:0.0:0.0	.	924	Q9UMD9	COHA1_HUMAN	C	924	ENSP00000340937:G924C	ENSP00000340937:G924C	G	-	1	0	COL17A1	105789739	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.748000	0.55142	2.263000	0.75096	0.491000	0.48974	GGC		0.562	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
NUP37	79023	broad.mit.edu	37	12	102512173	102512173	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr12:102512173T>C	ENST00000552283.1	-	2	263	c.124A>G	c.(124-126)Aat>Gat	p.N42D	PARPBP_ENST00000537257.1_5'Flank|PARPBP_ENST00000541394.1_5'Flank|PARPBP_ENST00000358383.5_5'Flank|PARPBP_ENST00000543784.1_5'Flank|PARPBP_ENST00000378128.3_5'Flank|PARPBP_ENST00000327680.2_5'Flank|PARPBP_ENST00000392911.2_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.N42D|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	42					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.N42D(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						ACCACATAATTATTGCCACCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											243.0	217.0	226.0					12																	102512173		2203	4300	6503	101036303	SO:0001583	missense	79023			AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.124A>G	12.37:g.102512173T>C	ENSP00000448054:p.Asn42Asp		101036303	Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576517	0.45902	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744;ENST00000550459	T;T;T	0.30448	1.53;1.53;2.72	5.55	4.38	0.52667	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.186148	0.56097	D	0.000022	T	0.16854	0.0405	L	0.34521	1.04	0.33733	D	0.618423	P;B	0.38922	0.651;0.055	B;B	0.30401	0.115;0.021	T	0.18209	-1.0344	10	0.02654	T	1	-18.2959	11.9148	0.52759	0.0:0.0:0.2755:0.7245	.	42;42	B4DKV8;Q8NFH4	.;NUP37_HUMAN	D	42	ENSP00000448054:N42D;ENSP00000251074:N42D;ENSP00000448086:N42D	ENSP00000251074:N42D	N	-	1	0	NUP37	101036303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.786000	0.47790	0.900000	0.36469	0.528000	0.53228	AAT		0.398	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057	
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr17:7579374C>A	ENST00000269305.4	-	4	502	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	TP53_ENST00000413465.2_Missense_Mutation_p.G105C|TP53_ENST00000420246.2_Missense_Mutation_p.G105C|TP53_ENST00000445888.2_Missense_Mutation_p.G105C|TP53_ENST00000359597.4_Missense_Mutation_p.G105C|TP53_ENST00000455263.2_Missense_Mutation_p.G105C|TP53_ENST00000574684.1_5'Flank	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	CCGTAGCTGCCCTGGTAGGTT	0.627		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	17	GRCh37	CM043949	TP53	M							55.0	55.0	55.0					17																	7579374		2203	4300	6503	7520099	SO:0001583	missense	7157	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.313G>T	17.37:g.7579374C>A	ENSP00000269305:p.Gly105Cys		7520099	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500135	0.64298	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;0.998;1.0;1.0;0.999;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	105	ENSP00000410739:G105C;ENSP00000352610:G105C;ENSP00000269305:G105C;ENSP00000398846:G105C;ENSP00000391127:G105C;ENSP00000391478:G105C;ENSP00000424104:G105C;ENSP00000426252:G105C	ENSP00000269305:G105C	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
BMPR2	659	broad.mit.edu	37	2	203421039	203421039	+	Missense_Mutation	SNP	T	T	C			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr2:203421039T>C	ENST00000374580.4	+	12	3190	c.2651T>C	c.(2650-2652)cTg>cCg	p.L884P	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	884					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.L884P(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GAAGGTGTTCTGGATCGTCTT	0.468																																																1	Substitution - Missense(1)	ovary(1)	2											123.0	120.0	121.0					2																	203421039		2203	4300	6503	203129284	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2651T>C	2.37:g.203421039T>C	ENSP00000363708:p.Leu884Pro		203129284	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	ENST00000374580.4	37	CCDS33361.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.057808	0.55325	.	.	ENSG00000204217	ENST00000374580	D	0.90133	-2.62	6.08	6.08	0.98989	.	0.095855	0.44902	D	0.000415	D	0.90542	0.7036	N	0.24115	0.695	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.90774	0.4674	10	0.42905	T	0.14	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	884	Q13873	BMPR2_HUMAN	P	884	ENSP00000363708:L884P	ENSP00000363708:L884P	L	+	2	0	BMPR2	203129284	1.000000	0.71417	0.992000	0.48379	0.757000	0.42996	6.193000	0.72075	2.333000	0.79357	0.482000	0.46254	CTG		0.468	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257743.1	NM_001204	
BCL2L13	23786	broad.mit.edu	37	22	18209790	18209790	+	Silent	SNP	C	C	T			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr22:18209790C>T	ENST00000317582.5	+	7	1295	c.948C>T	c.(946-948)ccC>ccT	p.P316P	BCL2L13_ENST00000538149.1_Silent_p.P192P|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000543133.1_Silent_p.P154P|BCL2L13_ENST00000337612.5_Silent_p.P154P|BCL2L13_ENST00000355028.3_3'UTR	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	316	Glu-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.P316P(1)		breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AAGAGGTGCCCGAGGGCATGG	0.537																																																1	Substitution - coding silent(1)	ovary(1)	22											51.0	50.0	50.0					22																	18209790		2203	4300	6503	16589790	SO:0001819	synonymous_variant	23786			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.948C>T	22.37:g.18209790C>T			16589790	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Silent	SNP	ENST00000317582.5	37	CCDS13746.1																																																																																				0.537	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1	NM_015367	
ITK	3702	broad.mit.edu	37	5	156672999	156672999	+	Silent	SNP	G	G	A			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr5:156672999G>A	ENST00000422843.3	+	15	1775	c.1623G>A	c.(1621-1623)gtG>gtA	p.V541V	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	541	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.V541V(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	AGTCCGATGTGTGGTCATTTG	0.527			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)		Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	1	Substitution - coding silent(1)	ovary(1)	5											188.0	177.0	181.0					5																	156672999		2203	4300	6503	156605577	SO:0001819	synonymous_variant	3702			D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.1623G>A	5.37:g.156672999G>A			156605577	B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	CCDS4336.1																																																																																				0.527	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2		
IKBKAP	8518	broad.mit.edu	37	9	111651666	111651666	+	Silent	SNP	C	C	G			TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chr9:111651666C>G	ENST00000374647.5	-	29	3475	c.3168G>C	c.(3166-3168)ctG>ctC	p.L1056L	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Silent_p.L707L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1056					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.L1056L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCTGCTCAACCAGCTTTCCTG	0.418																																																1	Substitution - coding silent(1)	ovary(1)	9											135.0	129.0	131.0					9																	111651666		2203	4300	6503	110691487	SO:0001819	synonymous_variant	8518			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.3168G>C	9.37:g.111651666C>G			110691487	Q5JSV2|Q9H327|Q9UG87	Silent	SNP	ENST00000374647.5	37	CCDS6773.1																																																																																				0.418	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1		
STARD8	9754	broad.mit.edu	37	X	67937370	67937370	+	Missense_Mutation	SNP	G	G	A	rs140071140	byFrequency	TCGA-13-1494-01A-01W-0545-08	TCGA-13-1494-10A-01W-0545-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom			Illumina GAIIx	47a2c27a-e5f9-45d1-94ea-1ddd6223ea9a	63927441-a70f-4884-b160-0c32b52ee6cd	g.chrX:67937370G>A	ENST00000252336.6	+	5	746	c.374G>A	c.(373-375)cGt>cAt	p.R125H	STARD8_ENST00000374599.3_Missense_Mutation_p.R205H|STARD8_ENST00000374597.3_Missense_Mutation_p.R125H	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	125					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R125H(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						AAGCGCCATCGTAACCGTAGC	0.622													g|||	1	0.000264901	0.0	0.0	3775	,	,		13945	0.0		0.001	False		,,,				2504	0.0															2	Substitution - Missense(2)	ovary(2)	X							HIS/ARG,HIS/ARG,HIS/ARG	0,3835		0,0,1632,571	67.0	57.0	60.0		614,374,374	0.4	0.0	X	dbSNP_134	60	3,6725		0,3,2425,1872	yes	missense,missense,missense	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	29,29,29	0,3,4057,2443	AA,AG,GG,G		0.0446,0.0,0.0284	benign,benign,benign	205/1104,125/1024,125/1024	67937370	3,10560	2203	4300	6503	67854095	SO:0001583	missense	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.374G>A	X.37:g.67937370G>A	ENSP00000252336:p.Arg125His		67854095	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	CCDS14390.1	2	0.0012055455093429777	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	6.479	0.456537	0.12283	0.0	4.46E-4	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.10860	2.83;2.89;2.83	4.39	0.403	0.16350	.	0.907784	0.09385	N	0.809409	T	0.09291	0.0229	L	0.37850	1.14	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.34304	-0.9834	10	0.62326	D	0.03	.	7.5428	0.27748	0.5995:0.0:0.4005:0.0	.	205;125	Q92502-2;Q92502	.;STAR8_HUMAN	H	125;205;125	ENSP00000252336:R125H;ENSP00000363727:R205H;ENSP00000363725:R125H	ENSP00000252336:R125H	R	+	2	0	STARD8	67854095	0.000000	0.05858	0.002000	0.10522	0.174000	0.22865	0.441000	0.21611	-0.267000	0.09325	0.597000	0.82753	CGT		0.622	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725	
