#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
AQP12A	375318	broad.mit.edu;hgsc.bcm.edu	37	2	241631447	241631447	+	Silent	SNP	G	G	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr2:241631447G>C	ENST00000337801.4	+	1	186	c.117G>C	c.(115-117)cgG>cgC	p.R39R	AQP12A_ENST00000429564.1_Silent_p.R39R|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	39						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.R39R(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCTTCGCCCGGGAGGCGGTGG	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	36.0	33.0					2																	241631447		2169	4270	6439	SO:0001819	synonymous_variant	375318			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.117G>C	2.37:g.241631447G>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000337801.4	37		.	.	.	.	.	.	.	.	.	.	.	0.818	-0.749510	0.03065	.	.	ENSG00000184945	ENST00000420599	.	.	.	2.43	0.452	0.16634	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.31779	-0.9931	5	0.07813	T	0.8	1.1681	2.3508	0.04283	0.3052:0.0:0.4569:0.238	.	.	.	.	A	12	.	ENSP00000399666:G12A	G	+	2	0	AQP12A	241280120	0.360000	0.24964	0.019000	0.16419	0.077000	0.17291	-0.042000	0.12063	-0.018000	0.14079	0.186000	0.17326	GGG		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2		NM_198998	
ARSF	416	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	2990179	2990179	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chrX:2990179A>T	ENST00000381127.1	+	3	345	c.124A>T	c.(124-126)Att>Ttt	p.I42F	ARSF_ENST00000359361.2_Missense_Mutation_p.I42F|ARSF_ENST00000537104.1_Missense_Mutation_p.I42F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	42					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.I42F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGACCTGGGTATTGGAGATCT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											214.0	177.0	190.0					X																	2990179		2203	4300	6503	SO:0001583	missense	416			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.124A>T	X.37:g.2990179A>T	ENSP00000370519:p.Ile42Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCC5	Missense_Mutation	SNP	ENST00000381127.1	37	CCDS14123.1	.	.	.	.	.	.	.	.	.	.	a	13.78	2.339555	0.41398	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.93076	-3.16;-3.16;-3.16	2.46	2.46	0.29980	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.94321	0.8175	M	0.69523	2.12	0.52099	D	0.999944	P	0.46277	0.875	P	0.55871	0.786	D	0.92615	0.6103	10	0.44086	T	0.13	.	9.9827	0.41824	1.0:0.0:0.0:0.0	.	42	P54793	ARSF_HUMAN	F	42	ENSP00000370519:I42F;ENSP00000445594:I42F;ENSP00000352319:I42F	ENSP00000352319:I42F	I	+	1	0	ARSF	3000179	0.988000	0.35896	0.003000	0.11579	0.135000	0.20990	2.930000	0.48924	0.805000	0.34159	0.339000	0.21740	ATT		0.507	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			
CCDC178	374864	broad.mit.edu;hgsc.bcm.edu	37	18	30795588	30795588	+	Silent	SNP	T	T	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr18:30795588T>A	ENST00000383096.3	-	19	2186	c.2004A>T	c.(2002-2004)atA>atT	p.I668I	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Silent_p.I668I|CCDC178_ENST00000583930.1_Silent_p.I668I|CCDC178_ENST00000579947.1_Silent_p.I668I|CCDC178_ENST00000402325.1_Silent_p.I668I|CCDC178_ENST00000300227.8_Silent_p.I630I|CCDC178_ENST00000403303.1_Silent_p.I668I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	668								p.I630I(1)|p.I668I(1)									TCAATTCATTTATTTTTGCAT	0.244																																																	2	Substitution - coding silent(2)	kidney(2)											28.0	31.0	30.0					18																	30795588		2160	4275	6435	SO:0001819	synonymous_variant	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2004A>T	18.37:g.30795588T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	CCDS42424.1																																																																																				0.244	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2		NM_198995	
TRAPPC11	60684	broad.mit.edu;ucsc.edu	37	4	184600619	184600619	+	Silent	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr4:184600619T>C	ENST00000334690.6	+	9	1147	c.945T>C	c.(943-945)caT>caC	p.H315H	TRAPPC11_ENST00000357207.4_Silent_p.H315H	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	315					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.H315H(1)									CTTTTGAGCATGATGCATGGA	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	105.0	105.0					4																	184600619		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.945T>C	4.37:g.184600619T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	CCDS34112.1																																																																																				0.353	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2		NM_021942	
CACNA1B	774	broad.mit.edu;hgsc.bcm.edu	37	9	141015984	141015984	+	Missense_Mutation	SNP	G	G	A	rs538992240		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:141015984G>A	ENST00000371372.1	+	47	6698	c.6553G>A	c.(6553-6555)Ggt>Agt	p.G2185S	CACNA1B_ENST00000371355.4_Missense_Mutation_p.G2186S|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G2184S|CACNA1B_ENST00000277549.5_Missense_Mutation_p.G1379S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G2183S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2185					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.G2185S(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCCGGCCGCGGTGGGCGGAG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		12894	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	endometrium(1)|kidney(1)											30.0	35.0	33.0					9																	141015984		1935	4114	6049	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6553G>A	9.37:g.141015984G>A	ENSP00000360423:p.Gly2185Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069373	0.36470	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97731	-4.21;-4.51;-4.22;-4.21;-4.2	5.0	2.07	0.26955	.	0.208541	0.41500	N	0.000880	D	0.95089	0.8409	L	0.53249	1.67	0.39290	D	0.96472	D;D	0.58620	0.983;0.983	B;B	0.42771	0.397;0.397	D	0.91761	0.5420	10	0.54805	T	0.06	.	7.1047	0.25356	0.1492:0.0:0.7113:0.1395	.	2184;2183	B1AQK7;B1AQK6	.;.	S	2185;1379;2183;2184;2186	ENSP00000360423:G2185S;ENSP00000277549:G1379S;ENSP00000360414:G2183S;ENSP00000360408:G2184S;ENSP00000360406:G2186S	ENSP00000277549:G1379S	G	+	1	0	CACNA1B	140135805	1.000000	0.71417	0.095000	0.20976	0.270000	0.26580	3.061000	0.49963	0.132000	0.18615	0.561000	0.74099	GGT		0.617	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1		NM_000718	
CARD11	84433	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	2953040	2953040	+	Missense_Mutation	SNP	C	C	G	rs141751925	byFrequency	TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr7:2953040C>G	ENST00000396946.4	-	22	3303	c.2900G>C	c.(2899-2901)cGc>cCc	p.R967P		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	967					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.R960P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTAGAAGGCGCGTACCAGGCT	0.677			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	kidney(1)											73.0	63.0	67.0					7																	2953040		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2900G>C	7.37:g.2953040C>G	ENSP00000380150:p.Arg967Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	10.37	1.332195	0.24167	.	.	ENSG00000198286	ENST00000396946	T	0.32753	1.44	4.36	3.47	0.39725	.	0.334784	0.27231	N	0.020313	T	0.19485	0.0468	N	0.24115	0.695	0.39614	D	0.969928	B	0.33000	0.393	B	0.32724	0.151	T	0.10753	-1.0616	10	0.72032	D	0.01	-24.9651	8.2371	0.31634	0.0:0.8208:0.0:0.1792	.	967	Q9BXL7	CAR11_HUMAN	P	967	ENSP00000380150:R967P	ENSP00000380150:R967P	R	-	2	0	CARD11	2919566	0.475000	0.25894	0.981000	0.43875	0.587000	0.36485	0.795000	0.26972	1.985000	0.57927	0.484000	0.47621	CGC		0.677	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415	
CCDC51	79714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48475152	48475152	+	Silent	SNP	A	A	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:48475152A>G	ENST00000395694.2	-	3	527	c.442T>C	c.(442-444)Ttg>Ctg	p.L148L	CCDC51_ENST00000442740.1_Silent_p.L39L|CCDC51_ENST00000447018.1_Silent_p.L39L|CCDC51_ENST00000412398.2_Silent_p.L39L|CCDC51_ENST00000395696.1_Silent_p.L148L	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	148						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L148L(2)		endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCAGTTCCAAGTACTGACTG	0.602																																																	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											118.0	130.0	126.0					3																	48475152		2103	4213	6316	SO:0001819	synonymous_variant	79714			AK022498	CCDS2766.2, CCDS58830.1	3p21.31	2005-12-30			ENSG00000164051	ENSG00000164051			25714	protein-coding gene	gene with protein product						12477932	Standard	NM_001256964		Approved	FLJ12436	uc003ctc.3	Q96ER9	OTTHUMG00000133534	ENST00000395694.2:c.442T>C	3.37:g.48475152A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9HA01	Silent	SNP	ENST00000395694.2	37	CCDS2766.2																																																																																				0.602	CCDC51-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344599.2		NM_024661	
CCDC80	151887	broad.mit.edu;ucsc.edu	37	3	112357811	112357811	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:112357811G>C	ENST00000206423.3	-	2	1895	c.942C>G	c.(940-942)gaC>gaG	p.D314E	CCDC80_ENST00000439685.2_Missense_Mutation_p.D314E|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	314					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.D314E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTCCTTGGGTCCTCTTTCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											126.0	117.0	120.0					3																	112357811		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.942C>G	3.37:g.112357811G>C	ENSP00000206423:p.Asp314Glu	Somatic		WXS	Illumina GAIIx	Phase_I	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.683967	0.00745	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.39592	1.07;1.07	4.65	-2.25	0.06888	.	0.644610	0.16597	N	0.207502	T	0.15089	0.0364	N	0.14661	0.345	0.58432	D	0.999998	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.30592	-0.9973	10	0.06891	T	0.86	-13.6427	1.467	0.02408	0.3566:0.2735:0.2372:0.1328	.	325;314;314	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	E	314	ENSP00000206423:D314E;ENSP00000411814:D314E	ENSP00000206423:D314E	D	-	3	2	CCDC80	113840501	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	-0.821000	0.04452	-0.638000	0.05509	-1.164000	0.01763	GAC		0.617	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1		NM_199511	
CCR6	1235	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	167550763	167550763	+	Missense_Mutation	SNP	G	G	A	rs113115632		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr6:167550763G>A	ENST00000341935.5	+	3	1597	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	CCR6_ENST00000400926.2_Missense_Mutation_p.A349T|CCR6_ENST00000349984.4_Missense_Mutation_p.A349T|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	349					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.A349T(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTTCTCCTGTGCCGGGAGGTA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											67.0	66.0	66.0					6																	167550763		2203	4300	6503	SO:0001583	missense	1235			U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.1045G>A	6.37:g.167550763G>A	ENSP00000343952:p.Ala349Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	1.633	-0.518486	0.04171	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.66638	-0.22;-0.22;-0.22	5.06	0.15	0.14883	.	3.255590	0.01870	U	0.037178	T	0.21227	0.0511	N	0.08118	0	0.09310	N	0.999997	B	0.16166	0.016	B	0.14578	0.011	T	0.10132	-1.0643	10	0.13108	T	0.6	.	8.7198	0.34434	0.0:0.0786:0.4818:0.4396	.	349	P51684	CCR6_HUMAN	T	349	ENSP00000383715:A349T;ENSP00000343952:A349T;ENSP00000339393:A349T	ENSP00000343952:A349T	A	+	1	0	CCR6	167470753	0.002000	0.14202	0.031000	0.17742	0.001000	0.01503	0.447000	0.21710	0.063000	0.16370	-1.028000	0.02416	GCC		0.478	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			
CD34	947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	208062095	208062095	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr1:208062095C>A	ENST00000310833.7	-	7	1225	c.904G>T	c.(904-906)Gct>Tct	p.A302S	CD34_ENST00000356522.4_Missense_Mutation_p.A302S|CD34_ENST00000367036.3_Missense_Mutation_p.A144S|CD34_ENST00000537704.1_Missense_Mutation_p.A167S|CD34_ENST00000485761.1_5'UTR	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	302					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.A302S(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCCAAGACAGCCAGCAGGGCT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											191.0	206.0	201.0					1																	208062095		2203	4300	6503	SO:0001583	missense	947			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.904G>T	1.37:g.208062095C>A	ENSP00000310036:p.Ala302Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331168	0.60853	.	.	ENSG00000174059	ENST00000310833;ENST00000356522;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.74881	2.28	0.46356	D	0.999007	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.998;0.999;0.999;0.996	T	0.52866	-0.8518	10	0.87932	D	0	-16.1433	13.0066	0.58707	0.0:1.0:0.0:0.0	.	167;302;302;144	B4DG27;P28906-2;P28906;Q5JTA5	.;.;CD34_HUMAN;.	S	302;302;144;167;272	ENSP00000310036:A302S;ENSP00000348916:A302S;ENSP00000356003:A144S;ENSP00000442874:A167S	ENSP00000310036:A302S	A	-	1	0	CD34	206128718	1.000000	0.71417	0.998000	0.56505	0.190000	0.23558	3.963000	0.56773	2.524000	0.85096	0.650000	0.86243	GCT		0.552	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1		NM_001773	
CLCN2	1181	hgsc.bcm.edu	37	3	184071131	184071132	+	In_Frame_Ins	INS	-	-	CGG	rs545787624|rs375401465	byFrequency	TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:184071131_184071132insCGG	ENST00000265593.4	-	17	2105_2106	c.1934_1935insCCG	c.(1933-1935)cgg>cgCCGg	p.645_645R>RR	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_In_Frame_Ins_p.628_628R>RR|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_In_Frame_Ins_p.601_601R>RR|CLCN2_ENST00000457512.1_In_Frame_Ins_p.645_645R>RR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	645					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.A643>?(2)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGCTGCCGCCGGCGGGCTGG	0.629														40	0.00798722	0.0	0.0216	5008	,	,		17891	0.0		0.0229	False		,,,				2504	0.002																2	Complex(2)	central_nervous_system(2)							,,,	19,4243		0,19,2112					,,,	1.4	1.0			42	183,8071		0,183,3944	no	coding,coding,coding,coding	CLCN2	NM_004366.4,NM_001171089.1,NM_001171088.1,NM_001171087.1	,,,	0,202,6056	A1A1,A1R,RR		2.2171,0.4458,1.6139	,,,	,,,		202,12314				SO:0001652	inframe_insertion	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1932_1934dupCCG	3.37:g.184071135_184071137dupCGG	ENSP00000265593:p.Arg646dup	Somatic		WXS	Illumina HiSeq	Phase_I	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	In_Frame_Ins	INS	ENST00000265593.4	37	CCDS3263.1																																																																																				0.629	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101824283	101824284	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:101824283_101824284CT>AA	ENST00000375001.3	+	37	3856_3857	c.3433_3434CT>AA	c.(3433-3435)CTg>AAg	p.L1145K		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1145	Nonhelical region 10 (NC10).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.L1145>?(1)|p.L1145Q(1)|p.L1145M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGATGACATGCTGCAGAAAGCG	0.421																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	Exception_encountered	9.37:g.101824283_101824284delinsAA	ENSP00000364140:p.Leu1145Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1																																																																																				0.421	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3		NM_001855	
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130300741	130300741	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:130300741G>A	ENST00000358511.6	+	8	3915	c.3884G>A	c.(3883-3885)cGa>cAa	p.R1295Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1295Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1295	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.R1295Q(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGCTGCTCGAGGAAAGGTA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											149.0	141.0	144.0					3																	130300741		1844	4095	5939	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3884G>A	3.37:g.130300741G>A	ENSP00000351310:p.Arg1295Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215297|3.215297	0.58452|0.58452	.|.	.|.	ENSG00000206384|ENSG00000206384	ENST00000511332|ENST00000358511;ENST00000453409	.|T;T	.|0.59502	.|0.26;0.26	5.95|5.95	5.95|5.95	0.96441|0.96441	.|von Willebrand factor, type A (2);	.|.	.|.	.|.	.|.	T|T	0.68366|0.68366	0.2993|0.2993	L|L	0.49126|0.49126	1.545|1.545	0.29019|0.29019	N|N	0.886394|0.886394	.|D	.|0.89917	.|1.0	.|D	.|0.80764	.|0.994	T|T	0.60835|0.60835	-0.7184|-0.7184	5|9	.|0.22706	.|T	.|0.39	.|.	12.4831|12.4831	0.55856|0.55856	0.0771:0.0:0.9229:0.0|0.0771:0.0:0.9229:0.0	.|.	.|1295	.|A6NMZ7	.|CO6A6_HUMAN	K|Q	53|1295	.|ENSP00000351310:R1295Q;ENSP00000399236:R1295Q	.|ENSP00000351310:R1295Q	E|R	+|+	1|2	0|0	COL6A6|COL6A6	131783431|131783431	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.500000|0.500000	0.33767|0.33767	3.909000|3.909000	0.56363|0.56363	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.343	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CSAD	51380	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53566220	53566220	+	Splice_Site	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr12:53566220C>T	ENST00000444623.1	-	6	521	c.254G>A	c.(253-255)gGt>gAt	p.G85D	CSAD_ENST00000453446.2_Splice_Site_p.G85D|CSAD_ENST00000542115.1_Splice_Site_p.G85D|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000267085.4_Splice_Site_p.G112D|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000379843.3_Intron	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	85					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G85D(1)|p.G112D(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CCGAGGGTGACCTGGAGAAGG	0.577																																					Ovarian(109;252 1546 16882 28524 44645)												2	Substitution - Missense(2)	kidney(2)											88.0	94.0	92.0					12																	53566220		2203	4300	6503	SO:0001630	splice_region_variant	51380			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.254-1G>A	12.37:g.53566220C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	ENST00000444623.1	37	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.215314|4.215314	0.79352|0.79352	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000308926;ENST00000267085;ENST00000544139;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000542115;ENST00000437073;ENST00000424990|ENST00000379850	T;T;T;T;T;T|.	0.39229|.	1.09;1.09;1.09;1.09;1.09;1.09|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.202212|.	0.53938|.	D|.	0.000054|.	T|.	0.72827|.	0.3509|.	M|M	0.62154|0.62154	1.92|1.92	0.58432|0.58432	D|D	0.999997|0.999997	B;B;B|.	0.19073|.	0.029;0.033;0.022|.	B;B;B|.	0.25884|.	0.064;0.062;0.064|.	T|.	0.71227|.	-0.4655|.	10|.	0.52906|.	T|.	0.07|.	.|.	17.6754|17.6754	0.88229|0.88229	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	85;112;85|.	B4DL84;Q9Y600-3;Q9Y600|.	.;.;CSAD_HUMAN|.	D|X	174;112;85;85;85;85;85;85;85|110	ENSP00000267085:G112D;ENSP00000415485:G85D;ENSP00000410648:G85D;ENSP00000439419:G85D;ENSP00000415314:G85D;ENSP00000401078:G85D|.	ENSP00000267085:G112D|.	G|W	-|-	2|3	0|0	CSAD|CSAD	51852487|51852487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.976000|1.976000	0.40579|0.40579	2.557000|2.557000	0.86248|0.86248	0.555000|0.555000	0.69702|0.69702	GGT|TGG		0.577	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1		NM_015989	Missense_Mutation
DMD	1756	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	31187596	31187596	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chrX:31187596A>T	ENST00000357033.4	-	74	10723	c.10517T>A	c.(10516-10518)cTa>cAa	p.L3506Q	DMD_ENST00000343523.2_Intron|DMD_ENST00000474231.1_Missense_Mutation_p.L1046Q|DMD_ENST00000378707.3_Missense_Mutation_p.L1046Q|DMD_ENST00000359836.1_Missense_Mutation_p.L1033Q|DMD_ENST00000378723.3_Missense_Mutation_p.L438Q|DMD_ENST00000378677.2_Missense_Mutation_p.L3502Q|DMD_ENST00000541735.1_Intron|DMD_ENST00000361471.4_Missense_Mutation_p.L425Q|DMD_ENST00000378702.4_Missense_Mutation_p.L438Q|DMD_ENST00000378680.2_Intron	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3506	Binds to SNTB1.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L3502Q(1)|p.L2165Q(1)|p.L1046Q(1)|p.L3506Q(1)|p.L438Q(1)|p.L3501Q(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GATTCTCTCTAGCTCCCCTCT	0.468																																																	6	Substitution - Missense(6)	kidney(6)											63.0	56.0	59.0					X																	31187596		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10517T>A	X.37:g.31187596A>T	ENSP00000354923:p.Leu3506Gln	Somatic		WXS	Illumina HiSeq	Phase_I	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499814	0.85176	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000378702;ENST00000474231;ENST00000361471	D;D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.1	5.1	0.69264	.	0.000000	0.28533	U	0.015020	D	0.95182	0.8438	M	0.89601	3.045	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.997;1.0;0.989;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.995;0.998;0.998;0.998;0.998;0.999;0.995;0.995;0.999;0.994;0.999;0.927;0.997	D	0.95783	0.8818	9	.	.	.	.	14.0626	0.64808	1.0:0.0:0.0:0.0	.	3498;3506;3502;2165;2162;1033;1046;1046;3383;425;438;425;438	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.	Q	3498;2165;2162;438;1189;3502;3506;1033;3506;3383;1046;438;1046;425	ENSP00000367997:L438Q;ENSP00000350765:L1189Q;ENSP00000367948:L3502Q;ENSP00000354923:L3506Q;ENSP00000352894:L1033Q;ENSP00000367979:L1046Q;ENSP00000367974:L438Q;ENSP00000417123:L1046Q;ENSP00000354464:L425Q	.	L	-	2	0	DMD	31097517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	1.896000	0.54893	0.481000	0.45027	CTA		0.468	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
EDC4	23644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67909957	67909957	+	Silent	SNP	T	T	A	rs544508740	byFrequency	TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:67909957T>A	ENST00000358933.5	+	2	431	c.192T>A	c.(190-192)acT>acA	p.T64T	AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	64					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.T64T(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CAAACAAGACTGGTCTTCGGA	0.537																																																	2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											125.0	107.0	113.0					16																	67909957		2198	4300	6498	SO:0001819	synonymous_variant	23644			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.192T>A	16.37:g.67909957T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	CCDS10849.1																																																																																				0.537	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2		NM_014329	
IL6ST	3572	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55247810	55247810	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:55247810C>A	ENST00000381298.2	-	13	1958	c.1646G>T	c.(1645-1647)gGa>gTa	p.G549V	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.G488V|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.G549V|IL6ST_ENST00000502326.3_Missense_Mutation_p.G549V|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	549	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)	p.G549V(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTGATAAATCCATTCTGAAC	0.333			O		hepatocellular ca																																			Dom	yes		5	5q11	3572	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""		E	1	Substitution - Missense(1)	kidney(1)											52.0	46.0	48.0					5																	55247810		2203	4300	6503	SO:0001583	missense	3572			M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1646G>T	5.37:g.55247810C>A	ENSP00000370698:p.Gly549Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451607	0.84209	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.65549	-0.16;-0.16;1.9	5.71	5.71	0.89125	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87937	0.2714	10	0.87932	D	0	.	19.8493	0.96733	0.0:1.0:0.0:0.0	.	549;488;549	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	V	549;549;488	ENSP00000370698:G549V;ENSP00000338799:G549V;ENSP00000370694:G488V	ENSP00000338799:G549V	G	-	2	0	IL6ST	55283567	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.663000	0.68038	2.701000	0.92244	0.563000	0.77884	GGA		0.333	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3		NM_002184	
KIAA1462	57608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	30316404	30316404	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr10:30316404C>A	ENST00000375377.1	-	3	2774	c.2673G>T	c.(2671-2673)gaG>gaT	p.E891D		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	891					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)		p.E891D(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCGGCTGTGGCTCAACCCTCA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											62.0	68.0	66.0					10																	30316404		2112	4223	6335	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2673G>T	10.37:g.30316404C>A	ENSP00000364526:p.Glu891Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900188	0.33535	.	.	ENSG00000165757	ENST00000375377	T	0.13089	2.62	5.04	4.12	0.48240	.	0.868989	0.10389	N	0.680624	T	0.13030	0.0316	L	0.43152	1.355	0.09310	N	1	P	0.42518	0.782	B	0.43536	0.423	T	0.20505	-1.0273	10	0.26408	T	0.33	-4.2652	3.6098	0.08055	0.2111:0.5619:0.1346:0.0924	.	891	Q9P266	K1462_HUMAN	D	891	ENSP00000364526:E891D	ENSP00000364526:E891D	E	-	3	2	KIAA1462	30356410	0.002000	0.14202	0.007000	0.13788	0.008000	0.06430	0.237000	0.17985	1.106000	0.41623	0.655000	0.94253	GAG		0.627	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		NM_020848	
KLHL3	26249	broad.mit.edu;ucsc.edu	37	5	136974757	136974757	+	Silent	SNP	G	G	A	rs373765961		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:136974757G>A	ENST00000309755.4	-	10	1547	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000508657.1_Silent_p.D336D|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Silent_p.D286D	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	368					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.D368D(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CCTTCACGCCGTCATACACAT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18412	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	94.0	70.0	78.0		1104	-6.4	0.5	5		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KLHL3	NM_017415.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		368/588	136974757	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26249			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.1104C>T	5.37:g.136974757G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	ENST00000309755.4	37	CCDS4192.1																																																																																				0.607	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251220.2			
LLGL1	3996	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18137246	18137246	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr17:18137246C>T	ENST00000316843.4	+	5	643	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	183					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)	p.R183C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGAGGTTCTGCGCAGGTAAGA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											46.0	48.0	47.0					17																	18137246		2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.547C>T	17.37:g.18137246C>T	ENSP00000321537:p.Arg183Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	ENST00000316843.4	37	CCDS32586.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809850	0.50421	.	.	ENSG00000131899	ENST00000316843	T	0.05199	3.48	5.87	3.91	0.45181	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.657156	0.16472	N	0.212931	T	0.04048	0.0113	N	0.14661	0.345	0.42217	D	0.991836	P	0.47762	0.9	B	0.39299	0.296	T	0.50566	-0.8813	10	0.72032	D	0.01	-8.9637	7.2426	0.26104	0.1373:0.7219:0.0:0.1408	.	183	Q15334	L2GL1_HUMAN	C	183	ENSP00000321537:R183C	ENSP00000321537:R183C	R	+	1	0	LLGL1	18077971	0.999000	0.42202	1.000000	0.80357	0.681000	0.39784	1.973000	0.40550	0.858000	0.35431	-0.145000	0.13849	CGC		0.642	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132067.3			
MMAB	326625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	110006594	110006594	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr12:110006594C>T	ENST00000545712.2	-	3	664	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	MMAB_ENST00000540016.1_Intron|MMAB_ENST00000266839.5_5'UTR|RNU4-32P_ENST00000363404.1_RNA	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	91					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|cob(I)yrinic acid a,c-diamide adenosyltransferase activity (GO:0008817)	p.E91K(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACTTAATTCATCTGTAGTT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											173.0	147.0	156.0					12																	110006594		2203	4300	6503	SO:0001583	missense	326625			AF550404	CCDS9131.1	12q24	2014-07-18	2005-07-11		ENSG00000139428	ENSG00000139428			19331	protein-coding gene	gene with protein product	"""ATP:cob(I)alamin adenosyltransferase"", ""cilia and flagella associated protein 23"""	607568	"""methylmalonic aciduria (cobalamin deficiency) type B"""			12471062, 12514191	Standard	NM_052845		Approved	cblB, CFAP23	uc001tou.3	Q96EY8	OTTHUMG00000169255	ENST00000545712.2:c.271G>A	12.37:g.110006594C>T	ENSP00000445920:p.Glu91Lys	Somatic		WXS	Illumina HiSeq	Phase_I	C5HU05|Q9BSH0	Missense_Mutation	SNP	ENST00000545712.2	37	CCDS9131.1	.	.	.	.	.	.	.	.	.	.	C	33	5.230305	0.95207	.	.	ENSG00000139428	ENST00000545712;ENST00000542390	D	0.97041	-4.22	4.91	4.91	0.64330	Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, PduO-type, N-terminal (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase-like (2);Adenosylcobalamin biosynthesis, ATP:cob(I)alamin adenosyltransferase, EutT/PduO type (1);	0.000000	0.85682	D	0.000000	D	0.99217	0.9728	H	0.99336	4.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98552	1.0637	10	0.87932	D	0	-28.5676	17.1622	0.86806	0.0:1.0:0.0:0.0	.	91	Q96EY8	MMAB_HUMAN	K	91	ENSP00000445920:E91K	ENSP00000444793:E91K	E	-	1	0	MMAB	108490977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.886000	0.75611	2.703000	0.92315	0.555000	0.69702	GAA		0.453	MMAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403128.2			
NIPA1	123606	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	23048907	23048907	+	Silent	SNP	C	C	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr15:23048907C>G	ENST00000337435.4	-	5	936	c.912G>C	c.(910-912)ggG>ggC	p.G304G	NIPA1_ENST00000561183.1_Silent_p.G229G|NIPA1_ENST00000437912.2_Silent_p.G229G|NIPA1_ENST00000538684.1_Silent_p.G134G	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	304					cell death (GO:0008219)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G304G(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TAAGGACAATCCCCACGGAGA	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											91.0	85.0	87.0					15																	23048907		2203	4300	6503	SO:0001819	synonymous_variant	123606			BK001020	CCDS73691.1, CCDS73692.1	15q11.2	2006-10-06			ENSG00000170113	ENSG00000170113			17043	protein-coding gene	gene with protein product		608145	"""spastic paraplegia 6 (autosomal dominant)"""	SPG6		14508710	Standard	NM_144599		Approved	MGC35570	uc001yvc.3	Q7RTP0	OTTHUMG00000129099	ENST00000337435.4:c.912G>C	15.37:g.23048907C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RA76|Q5HYA9|Q7KZB0|Q86XW4	Silent	SNP	ENST00000337435.4	37	CCDS10011.1																																																																																				0.507	NIPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251135.2		NM_144599	
NOX1	27035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100117451	100117451	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chrX:100117451A>C	ENST00000372966.3	-	6	806	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	NOX1_ENST00000217885.5_Missense_Mutation_p.F201V|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.F164V	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	201	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.F201V(1)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						AAGACTTCAAAATAACTCCTC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											177.0	171.0	173.0					X																	100117451		2203	4299	6502	SO:0001583	missense	27035			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.601T>G	X.37:g.100117451A>C	ENSP00000362057:p.Phe201Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.595120	0.66219	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.91740	-2.9;-2.9;-2.9	4.34	4.34	0.51931	Flavoprotein transmembrane component (1);	0.058807	0.64402	D	0.000002	D	0.97158	0.9071	H	0.96576	3.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.991;0.994	D	0.97702	1.0185	10	0.72032	D	0.01	-4.6447	11.7865	0.52045	1.0:0.0:0.0:0.0	.	164;201;201	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	V	201;201;164	ENSP00000362057:F201V;ENSP00000217885:F201V;ENSP00000362051:F164V	ENSP00000217885:F201V	F	-	1	0	NOX1	100004107	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	8.157000	0.89647	1.726000	0.51525	0.486000	0.48141	TTT		0.443	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1		NM_007052	
OR8B8	26493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124310503	124310503	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:124310503G>T	ENST00000328064.2	-	1	551	c.479C>A	c.(478-480)aCa>aAa	p.T160K		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	160					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T160K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CATGCACGCTGTGTGGGCCAT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											128.0	110.0	116.0					11																	124310503		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.479C>A	11.37:g.124310503G>T	ENSP00000330280:p.Thr160Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858799	0.32884	.	.	ENSG00000197125	ENST00000328064	T	0.00274	8.35	3.52	1.66	0.24008	GPCR, rhodopsin-like superfamily (1);	0.264468	0.26627	N	0.023329	T	0.00845	0.0028	H	0.96943	3.91	0.18873	N	0.999985	D	0.60575	0.988	D	0.67103	0.949	T	0.29912	-0.9996	10	0.87932	D	0	.	7.382	0.26862	0.2856:0.0:0.7144:0.0	.	160	Q15620	OR8B8_HUMAN	K	160	ENSP00000330280:T160K	ENSP00000330280:T160K	T	-	2	0	OR8B8	123815713	0.001000	0.12720	0.402000	0.26371	0.506000	0.33950	1.116000	0.31221	0.488000	0.27723	0.557000	0.71058	ACA		0.517	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1		NM_012378	
PELO	53918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	52096856	52096856	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:52096856C>G	ENST00000274311.2	+	2	1613	c.628C>G	c.(628-630)Cca>Gca	p.P210A	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	210					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA catabolic process, non-stop decay (GO:0070481)|RNA surveillance (GO:0071025)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)	p.P210A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGTGGCCAGCCCAGGATTTGT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											74.0	74.0	74.0					5																	52096856		2202	4300	6502	SO:0001583	missense	53918				CCDS3956.1	5q11.2	2008-07-18	2001-11-28		ENSG00000152684	ENSG00000152684			8829	protein-coding gene	gene with protein product		605757	"""pelota (Drosophila) homolog"""			11060452	Standard	NM_015946		Approved		uc003jos.3	Q9BRX2	OTTHUMG00000096973	ENST00000274311.2:c.628C>G	5.37:g.52096856C>G	ENSP00000274311:p.Pro210Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q9GZS6|Q9Y306	Missense_Mutation	SNP	ENST00000274311.2	37	CCDS3956.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300459	0.81136	.	.	ENSG00000152684	ENST00000274311	T	0.73681	-0.77	5.25	5.25	0.73442	eRF1 domain 2 (1);	0.000000	0.85682	U	0.000000	D	0.90769	0.7102	H	0.96662	3.86	0.80722	D	1	D	0.61697	0.99	D	0.65987	0.94	D	0.93515	0.6856	10	0.87932	D	0	-5.0769	18.6403	0.91393	0.0:1.0:0.0:0.0	.	210	Q9BRX2	PELO_HUMAN	A	210	ENSP00000274311:P210A	ENSP00000274311:P210A	P	+	1	0	PELO	52132613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.872000	0.75536	2.737000	0.93849	0.563000	0.77884	CCA		0.517	PELO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214040.1		NM_015946	
PLA2G4E	123745	hgsc.bcm.edu	37	15	42293414	42293414	+	Missense_Mutation	SNP	C	C	T	rs189961279		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr15:42293414C>T	ENST00000399518.3	-	7	1100	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.R176Q	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	196					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.R176Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGAGACTTGTCGAGACTGTAA	0.537													c|||	1	0.000199681	0.0	0.0014	5008	,	,		21663	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											73.0	78.0	77.0					15																	42293414		1957	4159	6116	SO:0001583	missense	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.614G>A	15.37:g.42293414C>T	ENSP00000382434:p.Arg205Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	CCDS55962.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	c	21.1	4.091080	0.76756	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01548	4.88;4.78	5.34	5.34	0.76211	.	0.334743	0.20358	U	0.093917	T	0.06325	0.0163	M	0.82823	2.61	0.26811	N	0.969005	D	0.55172	0.97	P	0.46629	0.522	T	0.06899	-1.0801	10	0.66056	D	0.02	-19.2421	15.9723	0.80031	0.0:1.0:0.0:0.0	.	176	C9JK77	.	Q	205;176	ENSP00000382434:R205Q;ENSP00000413897:R176Q	ENSP00000382434:R205Q	R	-	2	0	PLA2G4E	40080706	0.996000	0.38824	0.998000	0.56505	0.994000	0.84299	4.303000	0.59098	2.498000	0.84270	0.651000	0.88453	CGA		0.537	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2		NM_198442	
POLR2A	5430	hgsc.bcm.edu	37	17	7416613	7416613	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr17:7416613G>A	ENST00000322644.6	+	29	5429	c.5030G>A	c.(5029-5031)aGc>aAc	p.S1677N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1677	C-terminal domain (CTD); 52 X 7 AA approximate tandem repeats of Y-[ST]-P- [STQ]-[ST]-P-[SRTEVKGN].				7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)	p.S1677N(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				acctctcccagctactcaccc	0.612																																																	1	Substitution - Missense(1)	kidney(1)											296.0	254.0	268.0					17																	7416613		2201	4292	6493	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.5030G>A	17.37:g.7416613G>A	ENSP00000314949:p.Ser1677Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	G	3.526	-0.096765	0.07010	.	.	ENSG00000181222	ENST00000535204;ENST00000545644;ENST00000322644	T	0.72051	-0.62	3.22	2.24	0.28232	.	0.474846	0.15219	U	0.274033	T	0.67258	0.2874	L	0.41356	1.27	0.80722	D	1	B	0.34313	0.448	P	0.46452	0.517	T	0.56366	-0.7991	10	0.19590	T	0.45	-13.9104	9.5717	0.39431	0.1096:0.0:0.8904:0.0	.	1677	P24928	RPB1_HUMAN	N	1633;576;1677	ENSP00000314949:S1677N	ENSP00000314949:S1677N	S	+	2	0	SLC35G6	7357337	1.000000	0.71417	0.424000	0.26647	0.340000	0.28889	3.221000	0.51215	0.706000	0.31912	0.456000	0.33151	AGC		0.612	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1		NM_000937	
PYDC2	152138	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	191178998	191178998	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:191178998A>G	ENST00000518817.1	+	1	47	c.47A>G	c.(46-48)gAg>gGg	p.E16G		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	16	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E16G(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GCTCTTCTGGAGCAGCTCAGC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											69.0	75.0	73.0					3																	191178998		2203	4300	6503	SO:0001583	missense	152138					3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.47A>G	3.37:g.191178998A>G	ENSP00000428325:p.Glu16Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000518817.1	37		.	.	.	.	.	.	.	.	.	.	A	13.38	2.221095	0.39201	.	.	ENSG00000253548	ENST00000518817	T	0.60171	0.21	0.688	0.688	0.18027	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.70491	0.3230	.	.	.	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.56914	-0.7900	7	0.62326	D	0.03	.	.	.	.	.	16	Q56P42	PYDC2_HUMAN	G	16	ENSP00000428325:E16G	ENSP00000428325:E16G	E	+	2	0	PYDC2	192661692	0.767000	0.28508	0.408000	0.26446	0.194000	0.23727	0.954000	0.29175	0.530000	0.28619	0.260000	0.18958	GAG		0.542	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2		NM_001083308	
SENP6	26054	hgsc.bcm.edu	37	6	76369015	76369015	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr6:76369015A>T	ENST00000447266.2	+	8	1066	c.588A>T	c.(586-588)caA>caT	p.Q196H	SENP6_ENST00000436928.3_3'UTR|SENP6_ENST00000370014.3_Missense_Mutation_p.Q196H|SENP6_ENST00000370010.2_Missense_Mutation_p.Q189H|SENP6_ENST00000327284.8_Missense_Mutation_p.Q189H	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	196					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CCGAATCACAAGTGGAGCCTG	0.353																																																	0													83.0	76.0	78.0					6																	76369015		1842	4094	5936	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.588A>T	6.37:g.76369015A>T	ENSP00000402527:p.Gln196His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501151	0.26861	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000327284;ENST00000447266;ENST00000483859;ENST00000424947	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	4.92	-3.29	0.05017	.	1.020380	0.07781	N	0.953369	T	0.04634	0.0126	N	0.02011	-0.69	0.35433	D	0.79418	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.21586	-1.0241	10	0.32370	T	0.25	-0.1492	3.2058	0.06665	0.5812:0.1132:0.081:0.2246	.	189;196;189	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	H	189;196;189;196;86;86	ENSP00000359027:Q189H;ENSP00000359031:Q196H;ENSP00000321820:Q189H;ENSP00000402527:Q196H;ENSP00000426480:Q86H;ENSP00000391426:Q86H	ENSP00000321820:Q189H	Q	+	3	2	SENP6	76425735	0.004000	0.15560	0.006000	0.13384	0.893000	0.52053	-0.089000	0.11180	-0.829000	0.04268	-0.331000	0.08364	CAA		0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2		NM_015571	
SUSD5	26032	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	33194429	33194429	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:33194429G>T	ENST00000309558.3	-	5	2112	c.1695C>A	c.(1693-1695)gaC>gaA	p.D565E		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	565					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.D565E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGGACATCCGTCCCCCACAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											57.0	63.0	61.0					3																	33194429		2197	4291	6488	SO:0001583	missense	26032			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1695C>A	3.37:g.33194429G>T	ENSP00000308727:p.Asp565Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000309558.3	37	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	G	1.105	-0.660048	0.03454	.	.	ENSG00000173705	ENST00000309558	T	0.07800	3.16	5.8	-4.74	0.03249	.	0.444709	0.24564	N	0.037449	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.15719	0.014	B	0.13407	0.009	T	0.46205	-0.9208	10	0.02654	T	1	-6.1174	2.5204	0.04678	0.2999:0.2889:0.317:0.0942	.	565	O60279	SUSD5_HUMAN	E	565	ENSP00000308727:D565E	ENSP00000308727:D565E	D	-	3	2	SUSD5	33169433	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.374000	0.02566	-0.427000	0.07350	0.650000	0.86243	GAC		0.617	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1		XM_171054	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu	37	3	47163945	47163945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:47163945G>T	ENST00000409792.3	-	3	2223	c.2181C>A	c.(2179-2181)tgC>tgA	p.C727*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	727					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.C224*(1)|p.C727*(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTTTTCTTTGCACCTACTAA	0.393			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											104.0	104.0	104.0					3																	47163945		2202	4299	6501	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2181C>A	3.37:g.47163945G>T	ENSP00000386759:p.Cys727*	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	37	6.502881	0.97620	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.18	3.11	0.35812	.	0.205916	0.34460	N	0.003943	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0431	0.19746	0.6645:0.0:0.3355:0.0	.	.	.	.	X	727;727;727;683	.	.	C	-	3	2	SETD2	47138949	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.997000	0.40786	0.607000	0.29982	0.655000	0.94253	TGC		0.393	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113265449	113265449	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:113265449C>A	ENST00000401783.2	-	6	1688	c.1352G>T	c.(1351-1353)tGt>tTt	p.C451F	SVEP1_ENST00000374469.1_Missense_Mutation_p.C428F|SVEP1_ENST00000374461.1_Missense_Mutation_p.C428F|SVEP1_ENST00000302728.8_Missense_Mutation_p.C451F|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	451	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.C451F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTTGTAGAACAGCTGATGTG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											152.0	149.0	150.0					9																	113265449		1981	4155	6136	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.1352G>T	9.37:g.113265449C>A	ENSP00000384917:p.Cys451Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.499782	0.85176	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.71	5.71	0.89125	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.88640	2.97	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.66606	-0.5881	10	0.66056	D	0.02	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	451;451;451	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	F	451;428;451;428	ENSP00000384917:C451F;ENSP00000363593:C428F;ENSP00000304118:C451F;ENSP00000363585:C428F	ENSP00000304118:C451F	C	-	2	0	SVEP1	112305270	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.930000	0.75858	2.687000	0.91594	0.655000	0.94253	TGT		0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
TTC37	9652	broad.mit.edu;hgsc.bcm.edu	37	5	94803695	94803695	+	Splice_Site	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:94803695T>C	ENST00000358746.2	-	42	4795		c.e42-2			NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.?(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CGTGTCTCTCTGGAAAAAAAA	0.368																																																	1	Unknown(1)	kidney(1)											60.0	59.0	59.0					5																	94803695		2203	4300	6503	SO:0001630	splice_region_variant	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4497-2A>G	5.37:g.94803695T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O15077|Q6PJI3	Splice_Site	SNP	ENST00000358746.2	37	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648093	0.47258	.	.	ENSG00000198677	ENST00000358746	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8578	0.70355	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC37	94829451	1.000000	0.71417	0.958000	0.39756	0.395000	0.30598	6.429000	0.73387	2.000000	0.58554	0.459000	0.35465	.		0.368	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1		NM_014639	Intron
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179395676	179395676	+	Silent	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr2:179395676C>T	ENST00000591111.1	-	308	100967	c.100743G>A	c.(100741-100743)agG>agA	p.R33581R	TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R32654R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.R26157R|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Silent_p.R26349R|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Silent_p.R35222R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.R26282R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591466.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33581					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R26349R(1)|p.R26282R(1)|p.R26157R(1)|p.R32652R(1)|p.R32654R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGTTACCCTGGCCTTTT	0.483																																																	5	Substitution - coding silent(5)	kidney(5)											191.0	185.0	187.0					2																	179395676		1896	4112	6008	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100743G>A	2.37:g.179395676C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBE2E2	7325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	23541185	23541185	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:23541185T>C	ENST00000396703.1	+	4	494	c.314T>C	c.(313-315)tTt>tCt	p.F105S	UBE2E2_ENST00000425792.1_Missense_Mutation_p.F105S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	105					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)	p.F105S(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						GGGGTGTTCTTTCTTGACATT	0.388																																					GBM(85;1941 2083 9456)												1	Substitution - Missense(1)	kidney(1)											106.0	95.0	99.0					3																	23541185		2203	4300	6503	SO:0001583	missense	7325			AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.314T>C	3.37:g.23541185T>C	ENSP00000379931:p.Phe105Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000396703.1	37	CCDS2637.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690545	0.88735	.	.	ENSG00000182247	ENST00000425792;ENST00000452894;ENST00000396703	T;T;T	0.35973	1.28;1.28;1.28	5.7	5.7	0.88788	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.50922	0.1644	L	0.41824	1.3	0.58432	D	0.999999	D	0.69078	0.997	D	0.67725	0.953	T	0.52917	-0.8511	10	0.87932	D	0	.	15.6349	0.76944	0.0:0.0:0.0:1.0	.	105	Q96LR5	UB2E2_HUMAN	S	105;129;105	ENSP00000401053:F105S;ENSP00000392800:F129S;ENSP00000379931:F105S	ENSP00000379931:F105S	F	+	2	0	UBE2E2	23516189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.004000	0.88535	2.159000	0.67721	0.533000	0.62120	TTT		0.388	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2		NM_152653	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	216405369	216405369	+	Silent	SNP	T	T	C	rs138484134		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr1:216405369T>C	ENST00000307340.3	-	14	3305	c.2919A>G	c.(2917-2919)caA>caG	p.Q973Q	USH2A_ENST00000366943.2_Silent_p.Q973Q|USH2A_ENST00000366942.3_Silent_p.Q973Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	973	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q973Q(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGAAGCATCTTGGCAAACAC	0.443										HNSCC(13;0.011)			T|||	1	0.000199681	0.0	0.0	5008	,	,		14525	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											149.0	134.0	139.0					1																	216405369		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2919A>G	1.37:g.216405369T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
USP47	55031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	11964635	11964635	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:11964635G>A	ENST00000399455.2	+	21	3247	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K	USP47_ENST00000339865.5_Missense_Mutation_p.E955K|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.E1023K	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1043					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)	p.E955K(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TGCTGCAGATGAAGGTTCTGG	0.373																																																	1	Substitution - Missense(1)	kidney(1)											94.0	87.0	89.0					11																	11964635		1896	4112	6008	SO:0001583	missense	55031			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3127G>A	11.37:g.11964635G>A	ENSP00000382382:p.Glu1043Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Missense_Mutation	SNP	ENST00000399455.2	37		.	.	.	.	.	.	.	.	.	.	G	15.21	2.765739	0.49574	.	.	ENSG00000170242	ENST00000339865;ENST00000527733;ENST00000399455	T;T;T	0.04502	3.61;3.61;3.61	5.76	5.76	0.90799	.	0.184208	0.64402	D	0.000019	T	0.03136	0.0092	N	0.08118	0	0.80722	D	1	B;B;B	0.27498	0.18;0.079;0.13	B;B;B	0.19391	0.016;0.011;0.025	T	0.48603	-0.9021	10	0.07325	T	0.83	.	19.5491	0.95310	0.0:0.0:1.0:0.0	.	1043;1023;955	Q96K76;E9PM46;Q96K76-2	UBP47_HUMAN;.;.	K	955;1023;1043	ENSP00000339957:E955K;ENSP00000433146:E1023K;ENSP00000382382:E1043K	ENSP00000339957:E955K	E	+	1	0	USP47	11921211	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.728000	0.93425	0.467000	0.42956	GAA		0.373	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2		NM_017944	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191513	10191513	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr3:10191513T>C	ENST00000256474.2	+	3	1346	c.506T>C	c.(505-507)cTa>cCa	p.L169P	VHL_ENST00000345392.2_Missense_Mutation_p.L128P|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	169					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.L169P(11)|p.L169fs*33(2)|p.S168fs*3(1)|p.V170fs*31(1)|p.L169_V170del(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)		GTCCGGAGCCTAGTCAAGCCT	0.517		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"""	16	Substitution - Missense(11)|Deletion - Frameshift(4)|Deletion - In frame(1)	kidney(16)	GRCh37	CM003060	VHL	M							95.0	86.0	89.0					3																	10191513		2203	4300	6503	SO:0001583	missense	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.506T>C	3.37:g.10191513T>C	ENSP00000256474:p.Leu169Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866443	0.72065	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99856	-7.21;-7.21	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000004	D	0.99782	0.9909	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96607	0.9449	10	0.87932	D	0	-8.7798	12.7224	0.57149	0.0:0.0:0.0:1.0	.	128;169	P40337-2;P40337	.;VHL_HUMAN	P	169;128;87	ENSP00000256474:L169P;ENSP00000344757:L128P	ENSP00000256474:L169P	L	+	2	0	VHL	10166513	1.000000	0.71417	0.937000	0.37676	0.716000	0.41182	5.790000	0.69038	2.162000	0.67917	0.533000	0.62120	CTA		0.517	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF668	79759	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31073518	31073518	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:31073518C>T	ENST00000538906.1	-	3	1515	c.731G>A	c.(730-732)cGc>cAc	p.R244H	ZNF668_ENST00000426488.2_Missense_Mutation_p.R267H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R244H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R267H|ZNF668_ENST00000564456.1_5'Flank|ZNF668_ENST00000300849.4_Missense_Mutation_p.R244H|ZNF668_ENST00000394983.2_Missense_Mutation_p.R244H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R244H(1)|p.R267H(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CGCGTGGATGCGCTGGTGGCA	0.697																																					Colon(181;1111 1980 5060 10512 25785)												2	Substitution - Missense(2)	kidney(2)											33.0	36.0	35.0					16																	31073518		2197	4299	6496	SO:0001583	missense	79759				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.731G>A	16.37:g.31073518C>T	ENSP00000440149:p.Arg244His	Somatic		WXS	Illumina HiSeq	Phase_I	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	37	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092400	0.94149	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.53206	0.1782	M	0.77103	2.36	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	T	0.58092	-0.7697	10	0.87932	D	0	-37.4833	17.2644	0.87081	0.0:1.0:0.0:0.0	.	244	Q96K58	ZN668_HUMAN	H	267;244;244;244;244	ENSP00000442573:R267H;ENSP00000441349:R244H;ENSP00000440149:R244H;ENSP00000378434:R244H;ENSP00000300849:R244H	ENSP00000300849:R244H	R	-	2	0	ZNF668	30981019	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.953000	0.56699	2.584000	0.87258	0.655000	0.94253	CGC		0.697	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2		NM_024706	
AACSP1	729522	broad.mit.edu	37	5	178194326	178194326	+	RNA	SNP	C	C	T	rs34080101	byFrequency	TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:178194326C>T	ENST00000503486.2	-	0	1311					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1									p.S185N(1)									TTTATTGCCACTGAGCGTGTA	0.522													T|||	3898	0.778355	0.8533	0.755	5008	,	,		19866	0.6667		0.7833	False		,,,				2504	0.8037																1	Substitution - Missense(1)	kidney(1)																																										0					5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178194326C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000503486.2	37																																																																																					0.522	AACSP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374392.2		NR_024035	
IDH3B	3420	broad.mit.edu	37	20	2644813	2644813	+	Missense_Mutation	SNP	G	G	A	rs554271438		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr20:2644813G>A	ENST00000380843.4	-	1	52	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	RP4-686C3.7_ENST00000418739.1_RNA|IDH3B_ENST00000380851.5_Missense_Mutation_p.R8C|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	8					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R8C(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						GTCAGCCAGCGGACTCCGCTC	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15199	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											18.0	21.0	20.0					20																	2644813		2203	4300	6503	SO:0001583	missense	3420				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.22C>T	20.37:g.2644813G>A	ENSP00000370223:p.Arg8Cys	Somatic		WXS	Illumina GAIIx	Phase_I	B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	ENST00000380843.4	37	CCDS13032.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861532	0.71949	.	.	ENSG00000101365	ENST00000380851;ENST00000380843;ENST00000341825	T;T	0.52057	0.69;0.68	4.71	4.71	0.59529	.	0.170446	0.48767	D	0.000168	T	0.47820	0.1466	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.973	T	0.57329	-0.7830	10	0.87932	D	0	-6.3012	13.337	0.60522	0.0:0.0:1.0:0.0	.	8;8	O43837-2;O43837	.;IDH3B_HUMAN	C	8	ENSP00000370232:R8C;ENSP00000370223:R8C	ENSP00000343215:R8C	R	-	1	0	IDH3B	2592813	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.147000	0.58078	2.599000	0.87857	0.655000	0.94253	CGC		0.647	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077613.1			
IRX2	153572	broad.mit.edu	37	5	2748714	2748714	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr5:2748714A>T	ENST00000382611.6	-	3	1356	c.1108T>A	c.(1108-1110)Tcg>Acg	p.S370T	IRX2_ENST00000302057.5_Missense_Mutation_p.S370T|IRX2_ENST00000502957.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	370					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S370T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGGCGAGCCTCCTGGC	0.731																																																	1	Substitution - Missense(1)	kidney(1)											22.0	23.0	23.0					5																	2748714		2181	4252	6433	SO:0001583	missense	153572			AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.1108T>A	5.37:g.2748714A>T	ENSP00000372056:p.Ser370Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.150758	0.01700	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	T;T	0.64991	-0.13;-0.13	4.67	4.67	0.58626	.	0.393637	0.29342	N	0.012439	T	0.44435	0.1293	L	0.40543	1.245	0.30826	N	0.737191	B	0.34015	0.435	B	0.30401	0.115	T	0.42327	-0.9458	10	0.12766	T	0.61	-17.672	5.9132	0.19039	0.6781:0.2297:0.0922:0.0	.	370	Q9BZI1	IRX2_HUMAN	T	370	ENSP00000372056:S370T;ENSP00000307006:S370T	ENSP00000307006:S370T	S	-	1	0	IRX2	2801714	1.000000	0.71417	0.963000	0.40424	0.059000	0.15707	2.534000	0.45676	1.865000	0.54081	0.459000	0.35465	TCG		0.731	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2			
Unknown	0	broad.mit.edu	37	9	66499716	66499716	+	IGR	SNP	A	A	G	rs374942568		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr9:66499716A>G								RP11-262H14.1 (30406 upstream) : RP11-262H14.7 (17489 downstream)																							CCTGGAGCCCAATCTGCTGGA	0.607																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66499716A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.607									
MRGPRD	116512	broad.mit.edu	37	11	68748065	68748065	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:68748065T>C	ENST00000309106.3	-	1	390	c.391A>G	c.(391-393)Atc>Gtc	p.I131V		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	131						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I131V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTGAACCAGATAGGGAAGAGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											65.0	58.0	61.0					11																	68748065		2200	4294	6494	SO:0001583	missense	116512			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.391A>G	11.37:g.68748065T>C	ENSP00000310631:p.Ile131Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	T	6.384	0.439034	0.12104	.	.	ENSG00000172938	ENST00000309106	T	0.37058	1.22	4.87	-2.58	0.06228	GPCR, rhodopsin-like superfamily (1);	0.506034	0.16210	U	0.224518	T	0.30665	0.0772	L	0.52206	1.635	0.25239	N	0.989762	B	0.27910	0.193	B	0.40659	0.336	T	0.43147	-0.9409	10	0.13853	T	0.58	-21.387	6.0572	0.19819	0.0:0.3654:0.1334:0.5012	.	131	Q8TDS7	MRGRD_HUMAN	V	131	ENSP00000310631:I131V	ENSP00000310631:I131V	I	-	1	0	MRGPRD	68504641	0.000000	0.05858	0.055000	0.19348	0.033000	0.12548	-4.589000	0.00211	-0.412000	0.07519	0.377000	0.23210	ATC		0.582	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1		NM_198923	
NPW	283869	broad.mit.edu	37	16	2070178	2070178	+	Silent	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:2070178C>A	ENST00000566435.1	+	1	633	c.120C>A	c.(118-120)ccC>ccA	p.P40P	NPW_ENST00000329610.4_Silent_p.P92P			Q8N729	NPW_HUMAN	neuropeptide W	92					feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.P92P(1)		kidney(1)	1						TCCTGCTGCCCTCGTGGGTTC	0.771																																																	1	Substitution - coding silent(1)	kidney(1)											8.0	8.0	8.0					16																	2070178		1527	3503	5030	SO:0001819	synonymous_variant	283869			AB084276	CCDS42102.1	16p13.3	2013-02-26			ENSG00000183971	ENSG00000183971		"""Endogenous ligands"""	30509	protein-coding gene	gene with protein product	"""prepro-neuropeptide W"""	607997				12118011, 12401809	Standard	NM_001099456		Approved	PPL8	uc002coh.4	Q8N729	OTTHUMG00000176914	ENST00000566435.1:c.120C>A	16.37:g.2070178C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000566435.1	37																																																																																					0.771	NPW-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000434312.1		NM_001099456	
OR8J3	81168	broad.mit.edu	37	11	55904779	55904779	+	Missense_Mutation	SNP	C	C	A	rs373232843		TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr11:55904779C>A	ENST00000301529.1	-	1	415	c.416G>T	c.(415-417)cGg>cTg	p.R139L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139L(1)|p.R139Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473																																																	2	Substitution - Missense(2)	kidney(2)											111.0	107.0	109.0					11																	55904779		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.416G>T	11.37:g.55904779C>A	ENSP00000301529:p.Arg139Leu	Somatic		WXS	Illumina GAIIx	Phase_I	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512399	0.64522	.	.	ENSG00000167822	ENST00000301529	T	0.41758	0.99	3.26	-2.86	0.05717	GPCR, rhodopsin-like superfamily (1);	1.003870	0.08023	N	0.992227	T	0.50188	0.1601	M	0.78801	2.425	0.09310	N	1	P	0.36162	0.54	P	0.44860	0.462	T	0.57154	-0.7860	10	0.59425	D	0.04	.	9.911	0.41406	0.0:0.4758:0.0:0.5242	.	139	Q8NGG0	OR8J3_HUMAN	L	139	ENSP00000301529:R139L	ENSP00000301529:R139L	R	-	2	0	OR8J3	55661355	0.000000	0.05858	0.000000	0.03702	0.705000	0.40729	-1.311000	0.02723	-0.450000	0.07107	0.289000	0.19496	CGG		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1		NM_001004064	
POLN	353497	broad.mit.edu	37	4	2073957	2073957	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr4:2073957C>A	ENST00000511885.2	-	26	2940	c.2587G>T	c.(2587-2589)Ggc>Tgc	p.G863C	POLN_ENST00000382865.1_Missense_Mutation_p.G863C			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	863					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)	p.G863C(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GGCGGAGGGCCCCAGGCCTCC	0.697								DNA polymerases (catalytic subunits)																																									1	Substitution - Missense(1)	kidney(1)											25.0	32.0	30.0					4																	2073957		2201	4298	6499	SO:0001583	missense	353497			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2587G>T	4.37:g.2073957C>A	ENSP00000435506:p.Gly863Cys	Somatic		WXS	Illumina GAIIx	Phase_I	A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	CCDS3360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.18|12.18	1.861585|1.861585	0.32884|0.32884	.|.	.|.	ENSG00000130997|ENSG00000130997	ENST00000253313|ENST00000511885;ENST00000382865	.|T;T	.|0.08984	.|3.03;3.03	4.15|4.15	1.39|1.39	0.22231|0.22231	.|.	.|1.385230	.|0.04993	.|N	.|0.467674	.|T	.|0.12008	.|0.0292	L|L	0.27053|0.27053	0.805|0.805	0.20563|0.20563	N|N	0.999883|0.999883	.|D	.|0.69078	.|0.997	.|P	.|0.55667	.|0.781	.|T	.|0.18903	.|-1.0322	.|10	.|0.72032	.|D	.|0.01	.|0.26	3.697|3.697	0.08368|0.08368	0.1924:0.5947:0.0:0.2129|0.1924:0.5947:0.0:0.2129	.|.	.|863	.|Q7Z5Q5	.|DPOLN_HUMAN	.|C	-1|863	.|ENSP00000435506:G863C;ENSP00000372316:G863C	.|ENSP00000372316:G863C	.|G	-|-	.|1	.|0	POLN|POLN	2043755|2043755	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.252000|0.252000	0.25951|0.25951	-1.268000|-1.268000	0.02836|0.02836	0.057000|0.057000	0.16193|0.16193	-0.258000|-0.258000	0.10820|0.10820	.|GGC		0.697	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2		NM_181808	
RHOT2	89941	broad.mit.edu	37	16	720686	720686	+	Silent	SNP	G	G	A			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr16:720686G>A	ENST00000315082.4	+	9	666	c.552G>A	c.(550-552)gcG>gcA	p.A184A	RHOT2_ENST00000569943.2_Intron	NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	184	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A184A(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				TGAGGCCCGCGTGCGCCCAGG	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	69.0	65.0					16																	720686		2200	4295	6495	SO:0001819	synonymous_variant	89941			BC014942	CCDS10417.1	16p13.3	2013-01-10	2012-02-27	2004-03-24	ENSG00000140983	ENSG00000140983		"""EF-hand domain containing"""	21169	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 2"""	613889	"""chromosome 16 open reading frame 39"", ""ras homolog gene family, member T2"""	C16orf39, ARHT2		12482879	Standard	NM_138769		Approved	MIRO-2	uc002cip.3	Q8IXI1	OTTHUMG00000121139	ENST00000315082.4:c.552G>A	16.37:g.720686G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A2IDC2|Q8NF53|Q96C13|Q96S17|Q9BT60|Q9H7M8	Silent	SNP	ENST00000315082.4	37	CCDS10417.1																																																																																				0.682	RHOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241617.1		NM_138769	
TEKT2	27285	broad.mit.edu	37	1	36553613	36553613	+	Silent	SNP	G	G	T			TCGA-B0-5081-01A-01D-1462-08	TCGA-B0-5081-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71a9d096-0e27-4585-b54a-48214d83cd6c	5d95ccc5-6f79-404a-b3a7-b726c7f56d30	g.chr1:36553613G>T	ENST00000207457.3	+	10	1246	c.1119G>T	c.(1117-1119)ctG>ctT	p.L373L	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	373					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.L373L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCCCGGCTGCAGGCTGACA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											40.0	30.0	34.0					1																	36553613		2203	4300	6503	SO:0001819	synonymous_variant	27285			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.1119G>T	1.37:g.36553613G>T		Somatic		WXS	Illumina GAIIx	Phase_I	A6NIS6|O60638	Silent	SNP	ENST00000207457.3	37	CCDS401.1																																																																																				0.652	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1		NM_014466	
