#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_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_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_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
ANO2	57101	hgsc.bcm.edu;broad.mit.edu	37	12	5860068	5860068	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:5860068G>A	ENST00000356134.5	-	12	1186	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L	ANO2_ENST00000546188.1_Missense_Mutation_p.P372L|ANO2_ENST00000327087.8_Missense_Mutation_p.P371L	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	376					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACAGAAGATGGGATGAGGAA	0.348																																																0													82.0	76.0	78.0					12																	5860068		1837	4095	5932	SO:0001583	missense	57101			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1115C>T	12.37:g.5860068G>A	ENSP00000348453:p.Pro372Leu		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37		.	.	.	.	.	.	.	.	.	.	G	15.02	2.709738	0.48517	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.62639	0.01;0.01;0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.77032	0.4071	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.72360	-0.4317	10	0.25106	T	0.35	.	18.3716	0.90408	0.0:0.0:1.0:0.0	.	371	Q9NQ90-3	.	L	371;372;372;376	ENSP00000314048:P371L;ENSP00000348453:P372L;ENSP00000440981:P372L	ENSP00000314048:P371L	P	-	2	0	ANO2	5730329	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.713000	0.98740	2.670000	0.90874	0.655000	0.94253	CCA		0.348	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		4	71	4	71
TBK1	29110	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	64891776	64891776	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:64891776G>A	ENST00000331710.5	+	20	2434	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	699					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGAGATGGAAGGGGTGGTTAA	0.299																																																0													71.0	78.0	76.0					12																	64891776		2203	4296	6499	SO:0001583	missense	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.2095G>A	12.37:g.64891776G>A	ENSP00000329967:p.Gly699Arg		A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.337811	0.41398	.	.	ENSG00000183735	ENST00000331710	T	0.66460	-0.21	5.7	5.7	0.88788	.	0.051296	0.85682	D	0.000000	T	0.68540	0.3012	L	0.29908	0.895	0.58432	D	0.999999	D	0.54047	0.964	P	0.53450	0.726	T	0.64153	-0.6474	9	.	.	.	-10.2349	20.2274	0.98342	0.0:0.0:1.0:0.0	.	699	Q9UHD2	TBK1_HUMAN	R	699	ENSP00000329967:G699R	.	G	+	1	0	TBK1	63178043	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.822000	0.86651	2.868000	0.98415	0.555000	0.69702	GGG		0.299	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		59	54	59	54
NOS1	4842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	117768410	117768410	+	Silent	SNP	G	G	A	rs369224010		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:117768410G>A	ENST00000338101.4	-	1	469	c.465C>T	c.(463-465)ccC>ccT	p.P155P	NOS1_ENST00000344089.3_Silent_p.P155P|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Silent_p.P155P			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0	Ala-rich.				cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCCCATTCCCGGGACCCGAGG	0.701																																					Esophageal Squamous(162;1748 2599 51982 52956)											0								G	,	1,3821		0,1,1910	39.0	44.0	42.0		465,465	-9.5	0.0	12		42	1,8233		0,1,4116	no	coding-synonymous,coding-synonymous	NOS1	NM_000620.4,NM_001204218.1	,	0,2,6026	AA,AG,GG		0.0121,0.0262,0.0166	,	155/1435,155/1469	117768410	2,12054	1911	4117	6028	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.465C>T	12.37:g.117768410G>A				Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.701	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			43	68	43	68
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu	37	12	124401043	124401043	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:124401043G>A	ENST00000409039.3	+	62	10433	c.10408G>A	c.(10408-10410)Gag>Aag	p.E3470K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3470	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGCAGCTAGAGATGTCCAT	0.453																																																0													126.0	130.0	128.0					12																	124401043		2034	4187	6221	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10408G>A	12.37:g.124401043G>A	ENSP00000386770:p.Glu3470Lys		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	35	5.519879	0.96416	.	.	ENSG00000197653	ENST00000409039	T	0.31247	1.5	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75728	-0.3216	10	0.87932	D	0	.	17.7267	0.88367	0.0:0.0:1.0:0.0	.	3470	Q8IVF4	DYH10_HUMAN	K	3470	ENSP00000386770:E3470K	ENSP00000386770:E3470K	E	+	1	0	DNAH10	122966996	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	9.869000	0.99810	2.177000	0.69029	0.561000	0.74099	GAG		0.453	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			14	192	14	192
APBA2	321	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	29390775	29390775	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:29390775C>T	ENST00000558402.1	+	10	1933	c.1334C>T	c.(1333-1335)aCg>aTg	p.T445M	APBA2_ENST00000558259.1_Missense_Mutation_p.T445M|APBA2_ENST00000558330.1_Missense_Mutation_p.T433M|APBA2_ENST00000411764.1_Missense_Mutation_p.T433M|APBA2_ENST00000561069.1_Missense_Mutation_p.T445M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	445	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AATGCAGACACGCAGGTAAGC	0.478																																																0													92.0	86.0	88.0					15																	29390775		2203	4300	6503	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1334C>T	15.37:g.29390775C>T	ENSP00000453293:p.Thr445Met		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449708	0.84101	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.23950	1.88	4.93	4.93	0.64822	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.64170	1.965	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.74674	0.984;0.977;0.97;0.977	T	0.50180	-0.8858	10	0.62326	D	0.03	.	17.5045	0.87741	0.0:1.0:0.0:0.0	.	433;137;433;445	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	M	433;445;137	ENSP00000409312:T433M	ENSP00000219865:T445M	T	+	2	0	APBA2	27178067	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	7.584000	0.82572	2.406000	0.81754	0.655000	0.94253	ACG		0.478	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		29	42	29	42
VPS13C	54832	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	62302717	62302717	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:62302717C>A	ENST00000261517.5	-	13	1038	c.965G>T	c.(964-966)tGc>tTc	p.C322F	VPS13C_ENST00000395898.3_Missense_Mutation_p.C279F|VPS13C_ENST00000249837.3_Missense_Mutation_p.C279F|VPS13C_ENST00000395896.4_Missense_Mutation_p.C322F	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTATGTTGCAATCCAGTTT	0.393																																																0													239.0	208.0	218.0					15																	62302717		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.965G>T	15.37:g.62302717C>A	ENSP00000261517:p.Cys322Phe			Missense_Mutation	SNP	ENST00000261517.5	37	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630676	0.28978	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42513	0.97;0.97;1.14	5.37	3.44	0.39384	.	1.061880	0.07236	N	0.863448	T	0.38054	0.1026	N	0.25647	0.755	0.23063	N	0.998358	B;B;B;B	0.15930	0.015;0.015;0.015;0.009	B;B;B;B	0.25614	0.062;0.062;0.062;0.028	T	0.41627	-0.9498	10	0.37606	T	0.19	.	16.0621	0.80843	0.0:0.7468:0.2532:0.0	.	279;322;279;322	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	F	279;322;322;322	ENSP00000249837:C279F;ENSP00000261517:C322F;ENSP00000379233:C322F	ENSP00000249837:C279F	C	-	2	0	VPS13C	60090009	1.000000	0.71417	0.968000	0.41197	0.836000	0.47400	2.710000	0.47169	0.713000	0.32060	0.557000	0.71058	TGC		0.393	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		55	120	55	120
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:7577532G>A	ENST00000269305.4	-	7	938	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGTGAGGATGGGCCTCCGGTT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	80	Substitution - Missense(56)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(1)	large_intestine(14)|lung(10)|breast(10)|upper_aerodigestive_tract(5)|biliary_tract(5)|skin(5)|ovary(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|oesophagus(3)|liver(2)|urinary_tract(1)|eye(1)|peritoneum(1)|pancreas(1)|thyroid(1)	GRCh37	CM973401	TP53	M							154.0	112.0	126.0					17																	7577532		2203	4300	6503	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.749C>T	17.37:g.7577532G>A	ENSP00000269305:p.Pro250Leu		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	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504438	0.85176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.996;0.998;0.998;1.0	D	0.96045	0.9027	10	0.87932	D	0	-1.5308	15.3618	0.74483	0.0:0.0:1.0:0.0	.	250;250;250;250;250	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	L	250;250;250;250;250;250;239;118	ENSP00000410739:P250L;ENSP00000352610:P250L;ENSP00000269305:P250L;ENSP00000398846:P250L;ENSP00000391127:P250L;ENSP00000391478:P250L;ENSP00000425104:P118L	ENSP00000269305:P250L	P	-	2	0	TP53	7518257	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	9.601000	0.98297	2.564000	0.86499	0.462000	0.41574	CCC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		76	18	76	18
ADPRM	56985	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10614361	10614361	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:10614361G>C	ENST00000379774.4	+	4	1020	c.929G>C	c.(928-930)gGc>gCc	p.G310A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	310							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										CAAGCCTTTGGCACAGTTCAT	0.438																																																0													123.0	115.0	118.0					17																	10614361		2203	4300	6503	SO:0001583	missense	56985			BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.929G>C	17.37:g.10614361G>C	ENSP00000369099:p.Gly310Ala		A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	37	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	G	9.999	1.233043	0.22626	.	.	ENSG00000170222	ENST00000379774	D	0.93953	-3.32	5.82	3.8	0.43715	.	0.161390	0.53938	D	0.000052	D	0.85978	0.5823	N	0.17631	0.505	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77827	-0.2443	10	0.13853	T	0.58	-6.1227	12.8396	0.57793	0.0:0.1254:0.744:0.1306	.	310	Q3LIE5	ADPRM_HUMAN	A	310	ENSP00000369099:G310A	ENSP00000369099:G310A	G	+	2	0	C17orf48	10555086	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	2.769000	0.47654	0.793000	0.33875	-1.398000	0.01145	GGC		0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		46	78	46	78
MUC16	94025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9069716	9069716	+	Silent	SNP	A	A	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:9069716A>C	ENST00000397910.4	-	3	17933	c.17730T>G	c.(17728-17730)acT>acG	p.T5910T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5912	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						ACACGCCCTTAGTACTTCTGC	0.498																																																0													127.0	119.0	122.0					19																	9069716		1975	4141	6116	SO:0001819	synonymous_variant	94025			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.17730T>G	19.37:g.9069716A>C			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		68	125	68	125
RDH8	50700	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10127828	10127828	+	Missense_Mutation	SNP	G	G	A	rs545999307		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:10127828G>A	ENST00000171214.1	+	2	448	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	RDH8_ENST00000591589.1_Missense_Mutation_p.V87M	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	67					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCTGGACGTGTGCAGTGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17778	0.001		0.0	False		,,,				2504	0.0															0													80.0	69.0	73.0					19																	10127828		2203	4300	6503	SO:0001583	missense	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.199G>A	19.37:g.10127828G>A	ENSP00000171214:p.Val67Met		Q9H838	Missense_Mutation	SNP	ENST00000171214.1	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.405006	0.83230	.	.	ENSG00000080511	ENST00000171214	D	0.90900	-2.75	4.77	4.77	0.60923	NAD(P)-binding domain (1);	0.069192	0.64402	D	0.000018	D	0.95636	0.8581	M	0.87097	2.86	0.53688	D	0.999978	D	0.89917	1.0	D	0.79784	0.993	D	0.96411	0.9304	10	0.87932	D	0	.	15.3068	0.73998	0.0:0.0:1.0:0.0	.	67	Q9NYR8	RDH8_HUMAN	M	67	ENSP00000171214:V67M	ENSP00000171214:V67M	V	+	1	0	RDH8	9988828	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.300000	0.96151	2.190000	0.69967	0.655000	0.94253	GTG		0.627	RDH8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				25	24	25	24
MTHFR	4524	hgsc.bcm.edu;broad.mit.edu	37	1	11854817	11854817	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:11854817G>T	ENST00000376592.1	-	6	1263	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	MTHFR_ENST00000376585.1_Missense_Mutation_p.Q420K|MTHFR_ENST00000376583.3_Missense_Mutation_p.Q420K|MTHFR_ENST00000376590.3_Missense_Mutation_p.Q379K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	379					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	TCCCACTCCTGGGTACGGTAG	0.582																																																0													138.0	140.0	139.0					1																	11854817		2203	4300	6503	SO:0001583	missense	4524			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1135C>A	1.37:g.11854817G>T	ENSP00000365777:p.Gln379Lys		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	CCDS137.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969108	0.74131	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.69415	0.3108	M	0.66439	2.03	0.80722	D	1	B;P	0.45569	0.164;0.861	B;B	0.39339	0.042;0.297	T	0.73316	-0.4021	10	0.41790	T	0.15	.	17.4549	0.87604	0.0:0.0:1.0:0.0	.	379;420	P42898;Q5SNW6	MTHR_HUMAN;.	K	379;420;379;420	ENSP00000365777:Q379K;ENSP00000365767:Q420K;ENSP00000365775:Q379K;ENSP00000365770:Q420K	ENSP00000365767:Q420K	Q	-	1	0	MTHFR	11777404	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.282000	0.95840	2.407000	0.81776	0.462000	0.41574	CAG		0.582	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		11	191	11	191
ARID1A	8289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	27100207	27100207	+	Splice_Site	SNP	C	C	T	rs387906846		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:27100207C>T	ENST00000324856.7	+	16	4374	c.4003C>T	c.(4003-4005)Cga>Tga	p.R1335*	ARID1A_ENST00000374152.2_Splice_Site_p.R952*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Splice_Site_p.R1335*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1335	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.R1335*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.577			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	2	Substitution - Nonsense(2)	endometrium(2)											77.0	78.0	78.0					1																	27100207		2203	4300	6503	SO:0001630	splice_region_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4004+1C>T	1.37:g.27100207C>T			D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Splice_Site	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	41|41	8.995900|8.995900	0.99029|0.99029	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.4|5.4	4.47|4.47	0.54385|0.54385	.|.	0.157191|.	0.56097|.	D|.	0.000033|.	.|T	.|0.48409	.|0.1498	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45041	.|-0.9288	.|4	0.02654|.	T|.	1|.	0.3533|0.3533	4.3329|4.3329	0.11073|0.11073	0.1892:0.6214:0.0:0.1894|0.1892:0.6214:0.0:0.1894	.|.	.|.	.|.	.|.	X|M	1335;1335;952|231	.|.	ENSP00000320485:R1335X|.	R|T	+|+	1|2	2|0	ARID1A|ARID1A	26972794|26972794	0.973000|0.973000	0.33851|0.33851	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	2.562000|2.562000	0.45914|0.45914	1.240000|1.240000	0.43803|0.43803	0.655000|0.655000	0.94253|0.94253	CGA|ACG		0.577	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	Nonsense_Mutation	10	65	10	65
KIFAP3	22920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	170003639	170003639	+	Splice_Site	SNP	T	T	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:170003639T>A	ENST00000361580.2	-	7	845		c.e7-2		KIFAP3_ENST00000538366.1_Splice_Site|KIFAP3_ENST00000490550.1_5'Flank|KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000367765.1_Splice_Site	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGAAAAGCTTTAAAGAAGA	0.284																																																0													32.0	32.0	32.0					1																	170003639		2200	4290	6490	SO:0001630	splice_region_variant	22920			U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.618-2A>T	1.37:g.170003639T>A			B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Splice_Site	SNP	ENST00000361580.2	37	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.349254	0.24426	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	.	.	.	5.53	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5742	0.45217	0.0:0.0812:0.0:0.9188	.	.	.	.	.	-1	.	.	.	-	.	.	KIFAP3	168270263	1.000000	0.71417	0.757000	0.31301	0.147000	0.21601	7.211000	0.77933	1.002000	0.39104	-0.408000	0.06270	.		0.284	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	Intron	29	39	29	39
RGS13	6003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	192627429	192627429	+	Missense_Mutation	SNP	C	C	T	rs529030881	byFrequency	TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:192627429C>T	ENST00000391995.2	+	6	514	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RGS13_ENST00000543215.1_Missense_Mutation_p.R76W|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	76	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AATTGCCTCACGGTGGAGCAG	0.413													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16425	0.001		0.0	False		,,,				2504	0.0															0													78.0	78.0	78.0					1																	192627429		2203	4300	6503	SO:0001583	missense	6003			AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.226C>T	1.37:g.192627429C>T	ENSP00000375853:p.Arg76Trp		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714885	0.68844	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.32023	1.47;1.47	5.78	5.78	0.91487	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.308918	0.34531	N	0.003900	T	0.50786	0.1636	M	0.74647	2.275	0.21416	N	0.999692	D	0.62365	0.991	P	0.60236	0.871	T	0.51140	-0.8743	10	0.66056	D	0.02	.	12.4472	0.55657	0.1674:0.8326:0.0:0.0	.	76	O14921	RGS13_HUMAN	W	76	ENSP00000375853:R76W;ENSP00000442837:R76W	ENSP00000375853:R76W	R	+	1	2	RGS13	190894052	0.000000	0.05858	0.851000	0.33527	0.799000	0.45148	0.827000	0.27421	2.745000	0.94114	0.555000	0.69702	CGG		0.413	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	NM_002927		11	91	11	91
PTPRC	5788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	198677313	198677313	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:198677313C>T	ENST00000367376.2	+	10	1121	c.950C>T	c.(949-951)aCt>aTt	p.T317I	PTPRC_ENST00000348564.6_Missense_Mutation_p.T158I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T319I|PTPRC_ENST00000352140.3_Missense_Mutation_p.T269I|PTPRC_ENST00000594404.1_Missense_Mutation_p.T156I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	317					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCAGATACTACTATTTGT	0.294																																																0													62.0	63.0	63.0					1																	198677313		2201	4297	6498	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.950C>T	1.37:g.198677313C>T	ENSP00000356346:p.Thr317Ile		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	C	11.22	1.574228	0.28092	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000530727;ENST00000442510;ENST00000367367;ENST00000348564	T	0.03358	3.96	5.01	2.11	0.27256	.	0.406531	0.20966	N	0.082472	T	0.09468	0.0233	M	0.65975	2.015	0.23445	N	0.997669	D;D;D;D;D	0.59357	0.976;0.985;0.985;0.959;0.968	P;P;P;P;P	0.56163	0.793;0.729;0.614;0.496;0.53	T	0.09122	-1.0689	9	.	.	.	.	6.9906	0.24753	0.0:0.7156:0.0:0.2844	.	253;253;158;269;317	F5GXZ3;B4DSZ5;B1ALS3;E9PC28;P08575	.;.;.;.;PTPRC_HUMAN	I	319;253;269;269;203;317;251;156	ENSP00000193532:T269I	.	T	+	2	0	PTPRC	196943936	0.496000	0.26059	0.200000	0.23457	0.037000	0.13140	0.336000	0.19823	0.375000	0.24679	0.655000	0.94253	ACT		0.294	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				51	72	51	72
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			49	81	49	81
SETD5	55209	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	9476091	9476091	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:9476091C>A	ENST00000406341.1	+	4	441	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SETD5_ENST00000407969.1_Missense_Mutation_p.S103Y|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000402198.1_Missense_Mutation_p.S84Y|SETD5_ENST00000402466.1_5'UTR			Q9C0A6	SETD5_HUMAN	SET domain containing 5	84										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532																																																0													113.0	122.0	119.0					3																	9476091		1985	4162	6147	SO:0001583	missense	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.251C>A	3.37:g.9476091C>A	ENSP00000383939:p.Ser84Tyr		Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437828	0.62955	.	.	ENSG00000168137	ENST00000450326;ENST00000402198;ENST00000406341;ENST00000407969	T;D;D;D	0.95518	-0.02;-3.73;-3.73;-2.9	5.69	5.69	0.88448	.	.	.	.	.	D	0.97198	0.9084	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.945	D	0.97374	0.9978	9	0.62326	D	0.03	-0.0391	19.4099	0.94667	0.0:1.0:0.0:0.0	.	84;103	Q9C0A6;E7EWN3	SETD5_HUMAN;.	Y	84;84;84;103	ENSP00000413786:S84Y;ENSP00000385852:S84Y;ENSP00000383939:S84Y;ENSP00000384114:S103Y	ENSP00000385852:S84Y	S	+	2	0	SETD5	9451091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.378000	0.79679	2.679000	0.91253	0.591000	0.81541	TCT		0.532	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		28	56	28	56
SRP72	6731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	57340227	57340227	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:57340227G>A	ENST00000342756.5	+	4	1083	c.362G>A	c.(361-363)cGt>cAt	p.R121H	SRP72_ENST00000510663.1_Missense_Mutation_p.R121H|SRP72_ENST00000504757.1_Missense_Mutation_p.R121H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	121					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGTTATACCGTTTGGAACGC	0.353																																																0													56.0	56.0	56.0					4																	57340227		2203	4300	6503	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.362G>A	4.37:g.57340227G>A	ENSP00000342181:p.Arg121His		G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098782	0.94197	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.77098	-1.07;-1.07	5.35	5.35	0.76521	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.991	D	0.92730	0.6199	10	0.72032	D	0.01	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	121;121	G5E9Z8;O76094	.;SRP72_HUMAN	H	121;127;121	ENSP00000342181:R121H;ENSP00000424576:R121H	ENSP00000342181:R121H	R	+	2	0	SRP72	57034984	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.021000	0.88750	2.500000	0.84329	0.650000	0.86243	CGT		0.353	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			26	27	26	27
RAD50	10111	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	131940537	131940537	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:131940537A>G	ENST00000265335.6	+	16	2951	c.2564A>G	c.(2563-2565)gAc>gGc	p.D855G	RAD50_ENST00000378823.3_Missense_Mutation_p.D716G			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	855					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTATACAGGACCAGCAGGAA	0.333								Homologous recombination																																								0													71.0	67.0	68.0					5																	131940537		2203	4300	6503	SO:0001583	missense	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2564A>G	5.37:g.131940537A>G	ENSP00000265335:p.Asp855Gly		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	A	15.99	2.994484	0.54041	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	T;T	0.25579	1.79;1.79	4.87	4.87	0.63330	.	0.098604	0.64402	D	0.000002	T	0.26159	0.0638	M	0.64997	1.995	0.58432	D	0.999999	P	0.45348	0.856	B	0.38562	0.276	T	0.07065	-1.0792	10	0.22109	T	0.4	-15.2061	14.7685	0.69657	1.0:0.0:0.0:0.0	.	855	Q92878	RAD50_HUMAN	G	716;855	ENSP00000368100:D716G;ENSP00000265335:D855G	ENSP00000265335:D855G	D	+	2	0	RAD50	131968436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.875000	0.69660	1.947000	0.56498	0.533000	0.62120	GAC		0.333	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		18	45	18	45
MCHR2	84539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	100382335	100382335	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:100382335A>G	ENST00000281806.2	-	5	960	c.646T>C	c.(646-648)Tgc>Cgc	p.C216R	MCHR2_ENST00000369212.2_Missense_Mutation_p.C216R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAATATAGCACACCAAAATC	0.323																																																0													102.0	104.0	103.0					6																	100382335		2203	4298	6501	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.646T>C	6.37:g.100382335A>G	ENSP00000281806:p.Cys216Arg		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	A	17.40	3.379931	0.61845	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.42513	0.97;0.97;0.97	5.11	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.61248	0.2332	M	0.92317	3.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.69312	-0.5178	10	0.87932	D	0	.	9.6044	0.39624	0.9161:0.0:0.0839:0.0	.	216	Q969V1	MCHR2_HUMAN	R	216	ENSP00000403490:C216R;ENSP00000281806:C216R;ENSP00000358214:C216R	ENSP00000281806:C216R	C	-	1	0	MCHR2	100489056	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.520000	0.53465	0.790000	0.33803	0.533000	0.62120	TGC		0.323	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		90	135	90	135
CPED1	79974	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	120629721	120629721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:120629721C>T	ENST00000310396.5	+	2	513	c.46C>T	c.(46-48)Cga>Tga	p.R16*	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Nonsense_Mutation_p.R16*|CPED1_ENST00000340646.5_Nonsense_Mutation_p.R16*	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	16						endoplasmic reticulum (GO:0005783)											ATTTTGCCCCCGACCCTTCTT	0.597																																																0													129.0	114.0	119.0					7																	120629721		2203	4300	6503	SO:0001587	stop_gained	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.46C>T	7.37:g.120629721C>T	ENSP00000309772:p.Arg16*		A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Nonsense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.734712	0.97801	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	.	.	.	5.64	5.64	0.86602	.	0.085944	0.49305	D	0.000155	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8556	0.86005	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000309772:R16X	R	+	1	2	C7orf58	120416957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.763000	0.62257	2.662000	0.90505	0.655000	0.94253	CGA		0.597	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		71	94	71	94
UBN2	254048	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	138982568	138982568	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:138982568C>T	ENST00000473989.3	+	18	4030	c.4030C>T	c.(4030-4032)Cgg>Tgg	p.R1344W	UBN2_ENST00000288561.8_Missense_Mutation_p.R1261W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1344						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATTACCACGGAAATCTCA	0.418																																																0													104.0	95.0	98.0					7																	138982568		1910	4131	6041	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.4030C>T	7.37:g.138982568C>T	ENSP00000418648:p.Arg1344Trp		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867977	0.72065	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.58940	0.37;0.3	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000008	T	0.68247	0.2980	L	0.40543	1.245	0.53688	D	0.999976	D	0.89917	1.0	D	0.77557	0.99	T	0.70687	-0.4803	10	0.87932	D	0	-9.143	14.8778	0.70507	0.1441:0.8559:0.0:0.0	.	1344	Q6ZU65	UBN2_HUMAN	W	1344;1261	ENSP00000418648:R1344W;ENSP00000288561:R1261W	ENSP00000288561:R1261W	R	+	1	2	UBN2	138633108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.695000	0.54749	2.541000	0.85698	0.561000	0.74099	CGG		0.418	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		26	49	26	49
GLDC	2731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	6644691	6644691	+	Splice_Site	SNP	C	C	T			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:6644691C>T	ENST00000321612.6	-	2	407	c.257G>A	c.(256-258)aGc>aAc	p.S86N	RP11-390F4.6_ENST00000413145.1_lincRNA	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	86					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TTCATCAATGCTCTAAAATTA	0.463																																																0													66.0	63.0	64.0					9																	6644691		2203	4300	6503	SO:0001630	splice_region_variant	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.256-1G>A	9.37:g.6644691C>T			Q2M2F8	Splice_Site	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635480	0.67130	.	.	ENSG00000178445	ENST00000321612	D	0.96104	-3.91	4.73	4.73	0.59995	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.176967	0.50627	D	0.000103	D	0.94351	0.8184	L	0.58583	1.82	0.58432	D	0.999997	B	0.18013	0.025	B	0.25987	0.065	D	0.92342	0.5882	10	0.51188	T	0.08	-18.3432	17.6738	0.88225	0.0:1.0:0.0:0.0	.	86	P23378	GCSP_HUMAN	N	86	ENSP00000370737:S86N	ENSP00000370737:S86N	S	-	2	0	GLDC	6634691	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.350000	0.52224	2.353000	0.79882	0.462000	0.41574	AGC		0.463	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	Missense_Mutation	36	54	36	54
CTSV	1515	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	99795313	99795313	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:99795313C>A	ENST00000259470.5	-	8	1172	c.923G>T	c.(922-924)gGc>gTc	p.G308V	CTSV_ENST00000538255.1_Missense_Mutation_p.G308V	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	308					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										GCCATTCGAGCCCCATTCTGG	0.438																																																0													110.0	96.0	101.0					9																	99795313		2203	4300	6503	SO:0001583	missense	1515			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.923G>T	9.37:g.99795313C>A	ENSP00000259470:p.Gly308Val		O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	ENST00000259470.5	37	CCDS6723.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941593	0.73557	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.78126	-1.15;-1.15	3.81	3.81	0.43845	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	H	0.99988	5.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96127	0.9089	9	.	.	.	.	14.002	0.64439	0.0:1.0:0.0:0.0	.	308	O60911	CATL2_HUMAN	V	308	ENSP00000259470:G308V;ENSP00000445052:G308V	.	G	-	2	0	CTSL2	98835134	1.000000	0.71417	0.960000	0.40013	0.019000	0.09904	7.121000	0.77160	2.449000	0.82847	0.563000	0.77884	GGC		0.438	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333		42	62	42	62
CFAP54	144535	broad.mit.edu;ucsc.edu	37	12	97137849	97137849	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:97137849G>A	ENST00000524981.4	+	55	7632	c.7609G>A	c.(7609-7611)Gca>Aca	p.A2537T				Q96N23	CL055_HUMAN		0																	CACTAAATATGCAAATCCATT	0.299																																																0													67.0	66.0	66.0					12																	97137849		2203	4299	6502	SO:0001583	missense	0																														ENST00000524981.4:c.7609G>A	12.37:g.97137849G>A	ENSP00000431759:p.Ala2537Thr			Missense_Mutation	SNP	ENST00000524981.4	37		.	.	.	.	.	.	.	.	.	.	G	9.921	1.212298	0.22289	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.41	2.57	0.30868	.	0.511532	0.20785	N	0.085739	T	0.23886	0.0578	L	0.33485	1.01	0.26361	N	0.97704	B	0.23806	0.091	B	0.21546	0.035	T	0.18147	-1.0346	9	0.09843	T	0.71	-2.4034	4.2055	0.10486	0.2601:0.1743:0.5657:0.0	.	962	Q6ZTY8	CL063_HUMAN	T	2537;962	.	ENSP00000345466:A962T	A	+	1	0	C12orf63	95661980	0.496000	0.26059	1.000000	0.80357	0.905000	0.53344	1.362000	0.34148	0.654000	0.30846	0.561000	0.74099	GCA		0.299	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			9	78	9	78
DUSP27	92235	broad.mit.edu;ucsc.edu	37	1	167097454	167097454	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:167097454C>A	ENST00000361200.2	+	6	3252	c.3086C>A	c.(3085-3087)aCc>aAc	p.T1029N	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1029N|DUSP27_ENST00000443333.1_Missense_Mutation_p.T1029N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1029	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACAACGAGACCTCAAGTTCC	0.562																																																0													45.0	48.0	47.0					1																	167097454		2203	4300	6503	SO:0001583	missense	92235			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3086C>A	1.37:g.167097454C>A	ENSP00000354483:p.Thr1029Asn		A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257824	0.39896	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03553	3.89;3.89;3.89	5.42	4.45	0.53987	.	0.000000	0.52532	D	0.000076	T	0.05364	0.0142	M	0.63428	1.95	0.29682	N	0.841591	D	0.69078	0.997	P	0.58013	0.831	T	0.14952	-1.0454	10	0.37606	T	0.19	-37.0572	11.3133	0.49377	0.0:0.8164:0.1836:0.0	.	1029	Q5VZP5	DUS27_HUMAN	N	1029	ENSP00000354483:T1029N;ENSP00000271385:T1029N;ENSP00000404874:T1029N	ENSP00000271385:T1029N	T	+	2	0	DUSP27	165364078	0.912000	0.30974	1.000000	0.80357	0.297000	0.27493	1.696000	0.37773	2.530000	0.85305	0.643000	0.83706	ACC		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		30	64	30	64
ZCCHC8	55596	broad.mit.edu;ucsc.edu	37	12	122958070	122958070	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:122958070G>C	ENST00000336229.4	-	14	2228	c.2098C>G	c.(2098-2100)Cag>Gag	p.Q700E	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q311E|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.Q462E	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	700					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGTTTTTCTGCTGGTTTCGG	0.373																																																0													107.0	96.0	99.0					12																	122958070		1829	4083	5912	SO:0001583	missense	55596			BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.2098C>G	12.37:g.122958070G>C	ENSP00000337313:p.Gln700Glu		Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37		.	.	.	.	.	.	.	.	.	.	G	19.43	3.825839	0.71143	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.46451	0.9;0.9;0.87;0.89	5.88	5.88	0.94601	.	0.275476	0.42548	D	0.000694	T	0.43100	0.1232	M	0.72894	2.215	0.37962	D	0.932996	P	0.44734	0.842	B	0.31442	0.13	T	0.57814	-0.7746	10	0.62326	D	0.03	-20.3384	20.2422	0.98381	0.0:0.0:1.0:0.0	.	700	Q6NZY4	ZCHC8_HUMAN	E	462;462;700;311	ENSP00000441423:Q462E;ENSP00000438993:Q462E;ENSP00000337313:Q700E;ENSP00000440028:Q311E	ENSP00000337313:Q700E	Q	-	1	0	ZCCHC8	121524023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.012000	0.49575	2.788000	0.95919	0.650000	0.86243	CAG		0.373	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		30	51	30	51
FBN1	2200	broad.mit.edu;ucsc.edu	37	15	48795985	48795985	+	Splice_Site	SNP	T	T	C			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:48795985T>C	ENST00000316623.5	-	17	2567	c.2112A>G	c.(2110-2112)tcA>tcG	p.S704S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	704	TB 3.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCACATACCTGAATTCTGTG	0.483																																																0													134.0	115.0	122.0					15																	48795985		2197	4296	6493	SO:0001630	splice_region_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2113+1A>G	15.37:g.48795985T>C			B2RUU0|D2JYH6|Q15972|Q75N87	Splice_Site	SNP	ENST00000316623.5	37	CCDS32232.1																																																																																				0.483	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		Silent	40	72	40	72
PHC2	1912	broad.mit.edu;hgsc.bcm.edu	37	1	33797964	33797966	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:33797964_33797966delCTT	ENST00000257118.5	-	10	1851_1853	c.1798_1800delAAG	c.(1798-1800)aagdel	p.K600del	MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_In_Frame_Del_p.K206del|PHC2_ENST00000373416.1_In_Frame_Del_p.K65del|PHC2_ENST00000419414.2_In_Frame_Del_p.K601del|PHC2_ENST00000373418.3_In_Frame_Del_p.K65del|PHC2_ENST00000431992.1_In_Frame_Del_p.K571del	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	600					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGTGCATACTTCTTCTTGAGA	0.581																																																0																																										SO:0001651	inframe_deletion	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1798_1800delAAG	1.37:g.33797970_33797972delCTT	ENSP00000257118:p.Lys600del		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	In_Frame_Del	DEL	ENST00000257118.5	37	CCDS378.1																																																																																				0.581	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		129	256	129	256
API5	8539	broad.mit.edu;hgsc.bcm.edu	37	11	43348086	43348087	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:43348086_43348087delAT	ENST00000531273.1	+	7	919_920	c.780_781delAT	c.(778-783)acatatfs	p.Y261fs	API5_ENST00000455725.2_Frame_Shift_Del_p.Y250fs|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Frame_Shift_Del_p.Y207fs|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000534600.1_Frame_Shift_Del_p.Y261fs|API5_ENST00000378852.3_Frame_Shift_Del_p.Y261fs			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	261	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGTTTGTGACATATTTCTGTGA	0.376																																					Pancreas(1;98 122 5625 20895 49453)											0																																										SO:0001589	frameshift_variant	8539			U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.780_781delAT	11.37:g.43348088_43348089delAT	ENSP00000431391:p.Tyr261fs		B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Frame_Shift_Del	DEL	ENST00000531273.1	37	CCDS44572.1																																																																																				0.376	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		70	164	70	164
GRAMD1B	57476	broad.mit.edu;hgsc.bcm.edu	37	11	123476150	123476153	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:123476150_123476153delACTA	ENST00000529750.1	+	9	1185_1188	c.858_861delACTA	c.(856-861)acactafs	p.TL286fs	GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.TL293fs|GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.TL286fs|GRAMD1B_ENST00000450171.2_5'Flank	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	286						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAACAGCACACTAACATCCACAG	0.534																																																0																																										SO:0001589	frameshift_variant	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.858_861delACTA	11.37:g.123476150_123476153delACTA	ENSP00000436500:p.Thr286fs		Q6UW85|Q9ULL9	Frame_Shift_Del	DEL	ENST00000529750.1	37	CCDS53720.1																																																																																				0.534	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		67	136	67	136
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76814305	76814305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chrX:76814305delA	ENST00000373344.5	-	29	6553	c.6339delT	c.(6337-6339)tttfs	p.F2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.F2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.F2113fs*9(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAGAAATGATAAATAATCGTC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Unknown(1)|Deletion - Frameshift(1)	bone(1)|pancreas(1)											43.0	42.0	43.0					X																	76814305		2201	4290	6491	SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6339delT	X.37:g.76814305delA	ENSP00000362441:p.Phe2113fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	CCDS14434.1																																																																																				0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		54	12	54	12
