#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
APBA2	321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	29346528	29346528	+	Silent	SNP	G	G	A	rs375569614		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr15:29346528G>A	ENST00000558402.1	+	5	1040	c.441G>A	c.(439-441)ccG>ccA	p.P147P	APBA2_ENST00000558259.1_Silent_p.P147P|APBA2_ENST00000411764.1_Silent_p.P147P|APBA2_ENST00000558330.1_Silent_p.P147P|APBA2_ENST00000561069.1_Silent_p.P147P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	147					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)		CGGCGGGCCCGCACCCCCACG	0.672																																																	0								G	,	0,4406		0,0,2203	42.0	41.0	41.0		441,441	-10.5	0.0	15		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	147/738,147/750	29346528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.441G>A	15.37:g.29346528G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	CCDS10022.1																																																																																				0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503	
ASPHD2	57168	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26830026	26830026	+	Missense_Mutation	SNP	A	A	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr22:26830026A>G	ENST00000215906.5	+	2	883	c.445A>G	c.(445-447)Atc>Gtc	p.I149V		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	149					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CCACAAGGGCATCCGCGAGCA	0.647																																																	0													33.0	33.0	33.0					22																	26830026		2203	4300	6503	SO:0001583	missense	57168			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.445A>G	22.37:g.26830026A>G	ENSP00000215906:p.Ile149Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	A	8.741	0.918957	0.17982	.	.	ENSG00000128203	ENST00000215906	T	0.42900	0.96	4.42	3.36	0.38483	.	0.128107	0.53938	N	0.000052	T	0.20292	0.0488	N	0.08118	0	0.42961	D	0.994401	B	0.02656	0.0	B	0.04013	0.001	T	0.05225	-1.0898	10	0.17369	T	0.5	-30.8828	9.5763	0.39459	0.9155:0.0:0.0845:0.0	.	149	Q6ICH7	ASPH2_HUMAN	V	149	ENSP00000215906:I149V	ENSP00000215906:I149V	I	+	1	0	ASPHD2	25160026	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.458000	0.60095	0.802000	0.34089	0.460000	0.39030	ATC		0.647	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1		NM_020437	
BSN	8927	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49662500	49662500	+	Missense_Mutation	SNP	A	A	G	rs140305957		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr3:49662500A>G	ENST00000296452.4	+	2	431	c.317A>G	c.(316-318)cAt>cGt	p.H106R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	106					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACTCCTGGCCATGAGAGCCCC	0.622													A|||	1	0.000199681	0.0	0.0	5008	,	,		18050	0.001		0.0	False		,,,				2504	0.0																0								A	ARG/HIS	0,4406		0,0,2203	43.0	46.0	45.0		317	-0.3	0.1	3	dbSNP_134	45	3,8597	3.0+/-9.4	0,3,4297	yes	missense	BSN	NM_003458.3	29	0,3,6500	GG,GA,AA		0.0349,0.0,0.0231	benign	106/3927	49662500	3,13003	2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.317A>G	3.37:g.49662500A>G	ENSP00000296452:p.His106Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	A	0.312	-0.967434	0.02232	0.0	3.49E-4	ENSG00000164061	ENST00000296452	T	0.16457	2.34	5.48	-0.277	0.12898	.	1.072000	0.07229	N	0.862209	T	0.05823	0.0152	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42292	-0.9460	10	0.13853	T	0.58	0.0016	7.2878	0.26350	0.4019:0.1821:0.416:0.0	.	106	Q9UPA5	BSN_HUMAN	R	106	ENSP00000296452:H106R	ENSP00000296452:H106R	H	+	2	0	BSN	49637504	0.008000	0.16893	0.122000	0.21767	0.034000	0.12701	0.268000	0.18571	0.006000	0.14734	-0.468000	0.05107	CAT		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1		NM_003458	
OGFOD3	79701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80369360	80369360	+	Silent	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr17:80369360G>T	ENST00000313056.5	-	3	502	c.351C>A	c.(349-351)atC>atA	p.I117I	OGFOD3_ENST00000329197.5_Silent_p.I117I	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.I117I(2)									CCTCCCTGGTGATGACGACAT	0.632																																																	2	Substitution - coding silent(2)	kidney(2)											113.0	81.0	92.0					17																	80369360		2203	4300	6503	SO:0001819	synonymous_variant	0			BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.351C>A	17.37:g.80369360G>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9JDC8|Q8IZ37|Q9H6J2	Silent	SNP	ENST00000313056.5	37	CCDS11811.1																																																																																				0.632	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442895.1		NM_175902	
CEP350	9857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	180063129	180063129	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:180063129G>T	ENST00000367607.3	+	34	8307	c.7889G>T	c.(7888-7890)aGt>aTt	p.S2630I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											37.0	40.0	39.0					1																	180063129		2203	4300	6503	SO:0001583	missense	9857			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7889G>T	1.37:g.180063129G>T	ENSP00000356579:p.Ser2630Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.336|1.336	-0.595465|-0.595465	0.03771|0.03771	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607;ENST00000417046	.|T	.|0.59772	.|0.24	2.15|2.15	0.983|0.983	0.19767|0.19767	.|.	.|.	.|.	.|.	.|.	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|B;B	.|0.10296	.|0.003;0.001	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.23084|0.23084	-1.0198|-1.0198	5|8	.|.	.|.	.|.	.|.	5.4385|5.4385	0.16494|0.16494	0.6897:0.0:0.3103:0.0|0.6897:0.0:0.3103:0.0	.|.	.|2630;2630	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	N|I	804|2630;94	.|ENSP00000356579:S2630I	.|.	K|S	+|+	3|2	2|0	CEP350|CEP350	178329752|178329752	0.000000|0.000000	0.05858|0.05858	0.551000|0.551000	0.28230|0.28230	0.817000|0.817000	0.46193|0.46193	0.141000|0.141000	0.16076|0.16076	0.258000|0.258000	0.21686|0.21686	-0.383000|-0.383000	0.06682|0.06682	AAG|AGT		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810	
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94038888	94038888	+	Missense_Mutation	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr7:94038888G>T	ENST00000297268.6	+	18	1375	c.904G>T	c.(904-906)Gca>Tca	p.A302S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	302					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.A302S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TAATCCTGGAGCAAACGGCCT	0.433										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	kidney(1)											138.0	142.0	141.0					7																	94038888		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.904G>T	7.37:g.94038888G>T	ENSP00000297268:p.Ala302Ser	Somatic		WXS	Illumina HiSeq	Phase_I	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	8.271	0.813265	0.16537	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.83755	-1.76	5.73	3.9	0.45041	.	0.232106	0.43260	D	0.000589	T	0.67325	0.2881	N	0.11724	0.165	0.43076	D	0.994728	B	0.06786	0.001	B	0.12156	0.007	T	0.58171	-0.7683	10	0.13853	T	0.58	.	13.0003	0.58672	0.133:0.0:0.867:0.0	.	302	P08123	CO1A2_HUMAN	S	302;303	ENSP00000297268:A302S	ENSP00000297268:A302S	A	+	1	0	COL1A2	93876824	1.000000	0.71417	0.998000	0.56505	0.132000	0.20833	2.022000	0.41030	0.870000	0.35726	0.655000	0.94253	GCA		0.433	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089	
CSNK2B	1460	hgsc.bcm.edu	37	6	31637658	31637659	+	Frame_Shift_Del	DEL	CC	CC	-	rs76915685		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr6:31637658_31637659delCC	ENST00000375882.2	+	7	759_760	c.603_604delCC	c.(601-606)ctccaafs	p.Q202fs	CSNK2B_ENST00000375866.2_Frame_Shift_Del_p.Q202fs|CSNK2B-LY6G5B-1181_ENST00000375880.2_Intron|CSNK2B_ENST00000375865.2_Frame_Shift_Del_p.Q202fs|LY6G5B_ENST00000375864.4_5'Flank|CSNK2B_ENST00000375885.4_Frame_Shift_Del_p.Q221fs|LY6G5B_ENST00000409525.1_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	202					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						AGCTGCAGCTCCAAGCCGCCAG	0.574																																																	0																																										SO:0001589	frameshift_variant	1460			M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.603_604delCC	6.37:g.31637658_31637659delCC	ENSP00000365042:p.Gln202fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0UXA9|P07312|P13862|Q4VX47	Frame_Shift_Del	DEL	ENST00000375882.2	37	CCDS4712.1																																																																																				0.574	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8		NM_001320	
DENND2C	163259	broad.mit.edu;hgsc.bcm.edu	37	1	115166246	115166246	+	Missense_Mutation	SNP	C	C	A			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:115166246C>A	ENST00000393274.1	-	5	1450	c.825G>T	c.(823-825)gaG>gaT	p.E275D	DENND2C_ENST00000393277.1_Missense_Mutation_p.E275D|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.E275D	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	275					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E275D(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGAATATCCTCAAATTCAA	0.289																																																	1	Substitution - Missense(1)	kidney(1)											67.0	65.0	66.0					1																	115166246		2202	4300	6502	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.825G>T	1.37:g.115166246C>A	ENSP00000376955:p.Glu275Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942236	0.73672	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.50813	1.03;2.71;0.73	6.06	-0.516	0.11950	.	0.123171	0.56097	D	0.000031	T	0.55673	0.1935	M	0.80332	2.49	0.44611	D	0.997581	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.63088	-0.6715	10	0.87932	D	0	.	10.4276	0.44387	0.0:0.4999:0.0:0.5001	.	275;275	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	275	ENSP00000376957:E275D;ENSP00000376955:E275D;ENSP00000376958:E275D	ENSP00000358553:E275D	E	-	3	2	DENND2C	114967769	0.999000	0.42202	0.999000	0.59377	0.996000	0.88848	0.331000	0.19733	0.084000	0.17077	-0.150000	0.13652	GAG		0.289	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459	
HAPLN1	1404	broad.mit.edu;hgsc.bcm.edu	37	5	82940357	82940357	+	Silent	SNP	G	G	T	rs369262984		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr5:82940357G>T	ENST00000274341.4	-	4	1450	c.600C>A	c.(598-600)ggC>ggA	p.G200G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	200	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	AGTCCAGCCCGCCCCGCCAGG	0.622																																																	0													40.0	44.0	42.0					5																	82940357		2203	4300	6503	SO:0001819	synonymous_variant	1404				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.600C>A	5.37:g.82940357G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9A9	Silent	SNP	ENST00000274341.4	37	CCDS4061.1																																																																																				0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2		NM_001884	
MARK2	2011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63670173	63670173	+	Silent	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr11:63670173G>T	ENST00000509502.2	+	13	1696	c.1233G>T	c.(1231-1233)cgG>cgT	p.R411R	MARK2_ENST00000315032.8_Silent_p.R445R|MARK2_ENST00000402010.2_Silent_p.R445R|MARK2_ENST00000425897.2_Silent_p.R411R|MARK2_ENST00000408948.3_Silent_p.R411R|MARK2_ENST00000413835.2_Silent_p.R445R|MARK2_ENST00000350490.7_Silent_p.R444R|MARK2_ENST00000377810.3_Silent_p.R411R|MARK2_ENST00000513765.2_Silent_p.R412R|MARK2_ENST00000377809.4_Silent_p.R445R|MARK2_ENST00000361128.5_Silent_p.R445R|MARK2_ENST00000502399.3_Silent_p.R444R|MARK2_ENST00000508192.1_Silent_p.R444R	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R411R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTCAGGGCGGAAAGCCAGCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											46.0	48.0	47.0					11																	63670173		2201	4297	6498	SO:0001819	synonymous_variant	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1233G>T	11.37:g.63670173G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000509502.2	37	CCDS41665.1																																																																																				0.612	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490	
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192250811	192250811	+	Splice_Site	SNP	G	G	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr2:192250811G>T	ENST00000392318.3	+	16	1801		c.e16+1		MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGCTGGAAAGGTATGGGGGAG	0.547																																																	0													99.0	94.0	95.0					2																	192250811		2203	4300	6503	SO:0001630	splice_region_variant	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1554+1G>T	2.37:g.192250811G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705198	0.68615	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.391	0.94583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191959056	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.399000	0.97285	2.659000	0.90383	0.579000	0.79373	.		0.547	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223	Intron
MROH6	642475	broad.mit.edu;hgsc.bcm.edu	37	8	144657686	144657686	+	5'Flank	SNP	C	C	A	rs148462517	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr8:144657686C>A	ENST00000398882.3	-	0	0				NAPRT1_ENST00000426292.3_Missense_Mutation_p.V400L|NAPRT1_ENST00000449291.2_Missense_Mutation_p.V400L|NAPRT1_ENST00000276844.7_Missense_Mutation_p.V400L|NAPRT1_ENST00000435154.3_Missense_Mutation_p.V400L|NAPRT1_ENST00000460623.1_5'UTR|RP11-661A12.9_ENST00000531730.1_RNA	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		TGGCCCCCCACGGCCACCAGC	0.672																																																	0													30.0	35.0	34.0					8																	144657686		2199	4298	6497	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657686C>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917523	0.52546	.	.	ENSG00000147813	ENST00000435154;ENST00000449291;ENST00000340490;ENST00000426292;ENST00000276844	T;T;T;T;T	0.45668	0.95;0.93;0.89;0.95;0.91	4.73	4.73	0.59995	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.128270	0.52532	D	0.000076	T	0.55481	0.1923	L	0.41824	1.3	0.39906	D	0.973962	D;B;D;D	0.89917	1.0;0.299;1.0;1.0	D;B;D;D	0.87578	0.998;0.22;0.997;0.998	T	0.55579	-0.8119	10	0.37606	T	0.19	-17.4241	16.3564	0.83236	0.0:1.0:0.0:0.0	.	400;400;400;400	C9J8U2;G5E977;Q6XQN6-3;Q6XQN6	.;.;.;PNCB_HUMAN	L	400	ENSP00000405670:V400L;ENSP00000401508:V400L;ENSP00000341136:V400L;ENSP00000390949:V400L;ENSP00000276844:V400L	ENSP00000276844:V400L	V	-	1	0	NAPRT1	144728829	1.000000	0.71417	0.966000	0.40874	0.596000	0.36781	6.303000	0.72794	2.185000	0.69588	0.650000	0.86243	GTG		0.672	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3		NM_001100878	
OR10G4	390264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123887007	123887007	+	Silent	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr11:123887007C>T	ENST00000320891.4	+	1	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S242S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCTGTGCCTCCCACTGTATTG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											163.0	131.0	142.0					11																	123887007		2201	4299	6500	SO:0001819	synonymous_variant	390264			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.726C>T	11.37:g.123887007C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEW0	Silent	SNP	ENST00000320891.4	37	CCDS31702.1																																																																																				0.522	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1		NM_001004462	
PGLYRP3	114771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153277480	153277480	+	Missense_Mutation	SNP	G	G	C			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:153277480G>C	ENST00000290722.1	-	3	371	c.319C>G	c.(319-321)Cac>Gac	p.H107D		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	107					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.H107D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGGGTGTGCAAGCCTTGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											184.0	148.0	161.0					1																	153277480		2203	4300	6503	SO:0001583	missense	114771			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.319C>G	1.37:g.153277480G>C	ENSP00000290722:p.His107Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549798	0.65311	.	.	ENSG00000159527	ENST00000290722	T	0.26518	1.73	4.29	4.29	0.51040	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.50627	D	0.000115	T	0.54886	0.1886	H	0.97265	3.97	0.30640	N	0.756588	D	0.71674	0.998	D	0.72982	0.979	T	0.65191	-0.6228	10	0.87932	D	0	-16.5904	12.1073	0.53820	0.0:0.0:1.0:0.0	.	107	Q96LB9	PGRP3_HUMAN	D	107	ENSP00000290722:H107D	ENSP00000290722:H107D	H	-	1	0	PGLYRP3	151544104	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.824000	0.55723	2.203000	0.70933	0.557000	0.71058	CAC		0.498	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1		NM_052891	
SELP	6403	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169566355	169566355	+	Missense_Mutation	SNP	G	G	T	rs370194750		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr1:169566355G>T	ENST00000263686.6	-	11	1802	c.1765C>A	c.(1765-1767)Cgt>Agt	p.R589S	SELP_ENST00000367791.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.R527S|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.R527S|SELP_ENST00000367786.2_Missense_Mutation_p.R527S|SELP_ENST00000367788.2_Missense_Mutation_p.R527S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	589	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.R589S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	AATTCTCCACGAGTGTCAGAA	0.473																																																	1	Substitution - Missense(1)	kidney(1)											61.0	63.0	62.0					1																	169566355		2203	4300	6503	SO:0001583	missense	6403			BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1765C>A	1.37:g.169566355G>T	ENSP00000263686:p.Arg589Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	G	2.438	-0.329242	0.05314	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74;-0.74	5.13	3.18	0.36537	Complement control module (2);Sushi/SCR/CCP (3);	0.947971	0.08739	N	0.900902	T	0.32585	0.0834	N	0.05383	-0.06	0.09310	N	0.999999	B;B;B	0.29212	0.237;0.207;0.083	B;B;B	0.31946	0.138;0.138;0.054	T	0.28964	-1.0027	10	0.22109	T	0.4	-0.0506	7.0458	0.25044	0.0951:0.1733:0.7315:0.0	.	589;589;589	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	S	589;588;589;589;527;527;527;527;512	ENSP00000263686:R589S;ENSP00000356767:R527S;ENSP00000356768:R527S;ENSP00000356762:R527S;ENSP00000356760:R527S	ENSP00000263686:R589S	R	-	1	0	SELP	167832979	0.003000	0.15002	0.001000	0.08648	0.070000	0.16714	1.311000	0.33562	1.126000	0.42016	0.650000	0.86243	CGT		0.473	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4		NM_003005	
SREBF1	6720	hgsc.bcm.edu	37	17	17716753	17716754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr17:17716753_17716754insC	ENST00000261646.5	-	18	3326_3327	c.3142_3143insG	c.(3142-3144)gccfs	p.A1048fs	SREBF1_ENST00000355815.4_Frame_Shift_Ins_p.A1078fs|SREBF1_ENST00000395757.1_Frame_Shift_Ins_p.A794fs|SREBF1_ENST00000338854.5_Intron|MIR33B_ENST00000385104.1_RNA	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1048					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGTGGGGCTGGCCCCCGCCATC	0.693																																																	0																																										SO:0001589	frameshift_variant	6720			BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.3143dupG	17.37:g.17716758_17716758dupC	ENSP00000261646:p.Ala1048fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Frame_Shift_Ins	INS	ENST00000261646.5	37	CCDS11189.1																																																																																				0.693	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1		NM_004176	
UACA	55075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	70961034	70961034	+	Missense_Mutation	SNP	T	T	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr15:70961034T>G	ENST00000322954.6	-	16	2174	c.1989A>C	c.(1987-1989)gaA>gaC	p.E663D	UACA_ENST00000379983.2_Missense_Mutation_p.E650D|UACA_ENST00000560441.1_Missense_Mutation_p.E648D|UACA_ENST00000539319.1_Missense_Mutation_p.E554D	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	663					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.E663D(1)|p.E650D(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACTGTCTAATTTCACTAAGTG	0.338																																																	2	Substitution - Missense(2)	kidney(2)											96.0	96.0	96.0					15																	70961034		2199	4297	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.1989A>C	15.37:g.70961034T>G	ENSP00000314556:p.Glu663Asp	Somatic		WXS	Illumina HiSeq	Phase_I	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.870986	0.51695	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.50813	0.73;0.75;1.2	5.61	1.87	0.25490	.	0.089624	0.48286	D	0.000194	T	0.56731	0.2005	L	0.55834	1.745	0.37993	D	0.933987	D;D;D;D	0.89917	0.997;0.998;1.0;0.999	D;D;D;D	0.83275	0.93;0.938;0.996;0.962	T	0.57136	-0.7863	10	0.66056	D	0.02	-23.0206	5.3342	0.15949	0.0:0.2716:0.1413:0.5872	.	554;663;663;650	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	D	663;650;554	ENSP00000314556:E663D;ENSP00000369319:E650D;ENSP00000438667:E554D	ENSP00000314556:E663D	E	-	3	2	UACA	68748088	0.753000	0.28349	0.058000	0.19502	0.992000	0.81027	1.080000	0.30779	0.059000	0.16252	0.402000	0.26972	GAA		0.338	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	11985089	11985089	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr10:11985089C>T	ENST00000356352.2	-	16	3726	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K	UPF2_ENST00000357604.5_Missense_Mutation_p.E1085K|UPF2_ENST00000397053.2_Missense_Mutation_p.E1085K			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1085	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.E1085K(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GTTTCATTTTCCTTATTGGAA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											179.0	160.0	166.0					10																	11985089		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3253G>A	10.37:g.11985089C>T	ENSP00000348708:p.Glu1085Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740056	0.89573	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.06218	3.33;3.33;3.33	5.32	5.32	0.75619	Up-frameshift suppressor 2 (1);	0.000000	0.85682	D	0.000000	T	0.18173	0.0436	L	0.46157	1.445	0.49213	D	0.999761	D	0.57257	0.979	D	0.71414	0.973	T	0.02654	-1.1128	10	0.21014	T	0.42	.	17.5944	0.88007	0.0:1.0:0.0:0.0	.	1085	Q9HAU5	RENT2_HUMAN	K	1085	ENSP00000348708:E1085K;ENSP00000350221:E1085K;ENSP00000380244:E1085K	ENSP00000348708:E1085K	E	-	1	0	UPF2	12025095	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.910000	0.75741	2.657000	0.90304	0.644000	0.83932	GAA		0.328	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
ZFYVE26	23503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	68274120	68274120	+	Missense_Mutation	SNP	C	C	T			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr14:68274120C>T	ENST00000347230.4	-	5	1019	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G294E	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	294					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.G294E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CACACCTTTTCCCGAGGCTGT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											40.0	40.0	40.0					14																	68274120		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.881G>A	14.37:g.68274120C>T	ENSP00000251119:p.Gly294Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076516	0.36662	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.27256	1.82;1.68	5.27	3.46	0.39613	.	0.243197	0.41823	N	0.000807	T	0.42471	0.1204	L	0.60455	1.87	0.33080	D	0.536496	D;B;D	0.89917	1.0;0.197;0.999	D;B;D	0.97110	1.0;0.09;0.946	T	0.53129	-0.8482	10	0.42905	T	0.14	-5.4142	9.06	0.36429	0.0:0.7679:0.0:0.2321	.	294;294;294	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	E	294;273;294	ENSP00000251119:G294E;ENSP00000450603:G294E	ENSP00000251119:G294E	G	-	2	0	ZFYVE26	67343873	0.994000	0.37717	0.972000	0.41901	0.381000	0.30169	0.791000	0.26915	0.796000	0.33947	0.655000	0.94253	GGA		0.572	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346	
ZNF382	84911	hgsc.bcm.edu;ucsc.edu	37	19	37118014	37118015	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:37118014_37118015insA	ENST00000292928.2	+	5	1328_1329	c.1215_1216insA	c.(1216-1218)aaafs	p.K406fs	ZNF382_ENST00000435416.1_Frame_Shift_Ins_p.K405fs|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000423582.1_Frame_Shift_Ins_p.K357fs|ZNF382_ENST00000439428.1_Frame_Shift_Ins_p.K405fs	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	406	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ACACAGGAGAGAAACCGTATCA	0.446																																																	0																																										SO:0001589	frameshift_variant	84911			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1218dupA	19.37:g.37118017_37118017dupA	ENSP00000292928:p.Lys406fs	Somatic		WXS	Illumina HiSeq	Phase_I	A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Frame_Shift_Ins	INS	ENST00000292928.2	37	CCDS33004.1																																																																																				0.446	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2		NM_032825	
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	TCGCTGTCGCCA	TCGCTGTCGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374																2	Deletion - In frame(2)	large_intestine(1)|breast(1)								958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949			AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del	Somatic		WXS	Illumina GAIIx	Phase_I	Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1		NM_198471	
Unknown	0	broad.mit.edu	37	9	66499867	66499867	+	IGR	SNP	T	T	C	rs7862419	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr9:66499867T>C								RP11-262H14.1 (30557 upstream) : RP11-262H14.7 (17338 downstream)																							TTCACTTTGCTGGTGAGCCAG	0.567																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499867T>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.567									
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	G	T	rs568374645	byFrequency	TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr6:32156280G>T	ENST00000375050.4	-	3	567	c.297C>A	c.(295-297)ggC>ggA	p.G99G	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	99					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612													G|||	24	0.00479233	0.0045	0.0029	5008	,	,		16536	0.002		0.006	False		,,,				2504	0.0082																1	Substitution - coding silent(1)	prostate(1)											20.0	22.0	21.0					6																	32156280		2203	4298	6501	SO:0001630	splice_region_variant	5089				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.296-1C>A	6.37:g.32156280G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A2BFJ2	Silent	SNP	ENST00000375050.4	37	CCDS4748.1																																																																																				0.612	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			Silent
PRR12	57479	broad.mit.edu	37	19	50100809	50100810	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr19:50100809_50100810delCT	ENST00000418929.2	+	4	3229_3230	c.3217_3218delCT	c.(3217-3219)ctcfs	p.L1073fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AAAGAAGCTGCTCAAGACATCC	0.673																																																	0																																										SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3217_3218delCT	19.37:g.50100809_50100810delCT	ENSP00000394510:p.Leu1073fs	Somatic		WXS	Illumina GAIIx	Phase_I	E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.673	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719	
TSC22D1	8848	broad.mit.edu	37	13	45008837	45008837	+	Silent	SNP	A	A	G			TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr13:45008837A>G	ENST00000458659.2	-	3	3637	c.3147T>C	c.(3145-3147)ccT>ccC	p.P1049P	TSC22D1_ENST00000501704.2_Intron|RP11-71C5.2_ENST00000426579.2_RNA|TSC22D1_ENST00000261489.2_Silent_p.P120P	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1049					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1049P(2)|p.P120P(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		GGGTGGTGGCAGGGGGGGAGC	0.642																																																	4	Substitution - coding silent(4)	prostate(2)|kidney(2)											21.0	25.0	24.0					13																	45008837		2194	4297	6491	SO:0001819	synonymous_variant	8848			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.3147T>C	13.37:g.45008837A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	CCDS31966.1																																																																																				0.642	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2		NM_006022	
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-B2-3924-01A-01D-1458-08	TCGA-B2-3924-10A-01D-1458-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0e99fdd6-c16d-41ce-98a7-accd55ec1e4a	058d79f1-cfc9-486c-9be6-b42902cb74f6	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
