#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
ACAN	176	broad.mit.edu;hgsc.bcm.edu	37	15	89395179	89395179	+	Silent	SNP	T	T	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:89395179T>A	ENST00000561243.1	+	10	2181	c.2181T>A	c.(2179-2181)acT>acA	p.T727T	ACAN_ENST00000559004.1_Silent_p.T727T|ACAN_ENST00000352105.7_Silent_p.T727T|ACAN_ENST00000439576.2_Silent_p.T727T			P16112	PGCA_HUMAN	aggrecan	726	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.T727T(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGGAGACTACTGCCATCCTAG	0.582																																																	2	Substitution - coding silent(2)	kidney(2)											50.0	61.0	58.0					15																	89395179		2039	4186	6225	SO:0001819	synonymous_variant	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2181T>A	15.37:g.89395179T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	CCDS53970.1																																																																																				0.582	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135	
ACOX1	51	hgsc.bcm.edu	37	17	73946942	73946942	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:73946942C>A	ENST00000301608.4	-	9	1271	c.1211G>T	c.(1210-1212)tGc>tTc	p.C404F	ACOX1_ENST00000537812.1_Missense_Mutation_p.C366F|ACOX1_ENST00000293217.5_Missense_Mutation_p.C404F	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	404					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	AAGACCACTGCAATGAGAATA	0.493																																																	0													119.0	100.0	106.0					17																	73946942		2203	4300	6503	SO:0001583	missense	51			U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1211G>T	17.37:g.73946942C>A	ENSP00000301608:p.Cys404Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069238	0.55539	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69040	-0.37;-0.37;-0.37	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.119241	0.85682	D	0.000000	T	0.62134	0.2403	N	0.16903	0.455	0.80722	D	1	B;B;B;B	0.26147	0.001;0.143;0.0;0.0	B;B;B;B	0.38264	0.002;0.269;0.0;0.0	T	0.58393	-0.7644	10	0.45353	T	0.12	-15.3792	20.5827	0.99408	0.0:1.0:0.0:0.0	.	336;366;404;404	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	F	404;404;366;404;336	ENSP00000301608:C404F;ENSP00000293217:C404F;ENSP00000441257:C366F	ENSP00000293217:C404F	C	-	2	0	ACOX1	71458537	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.788000	0.69020	2.941000	0.99782	0.655000	0.94253	TGC		0.493	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			
ANPEP	290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90340889	90340889	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:90340889A>G	ENST00000300060.6	-	15	2387	c.2074T>C	c.(2074-2076)Tac>Cac	p.Y692H	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	692	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.Y692H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CAGGGCATGTACTGTCTCTCT	0.562																																					NSCLC(30;827 977 2459 19669 26125)												1	Substitution - Missense(1)	kidney(1)											137.0	130.0	132.0					15																	90340889		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2074T>C	15.37:g.90340889A>G	ENSP00000300060:p.Tyr692His	Somatic		WXS	Illumina HiSeq	Phase_I	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611242	0.87258	.	.	ENSG00000166825	ENST00000300060	T	0.07444	3.19	5.33	5.33	0.75918	.	0.057505	0.64402	D	0.000001	T	0.32615	0.0835	M	0.85373	2.75	0.49687	D	0.999817	D	0.89917	1.0	D	0.79108	0.992	T	0.12116	-1.0560	10	0.62326	D	0.03	.	14.4077	0.67093	1.0:0.0:0.0:0.0	.	692	P15144	AMPN_HUMAN	H	692	ENSP00000300060:Y692H	ENSP00000300060:Y692H	Y	-	1	0	ANPEP	88141893	1.000000	0.71417	0.999000	0.59377	0.786000	0.44442	9.142000	0.94618	2.148000	0.66965	0.459000	0.35465	TAC		0.562	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			
ASTN2	23245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119802150	119802150	+	Silent	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr9:119802150A>G	ENST00000313400.4	-	6	1471	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C	ASTN2_ENST00000361209.2_Silent_p.C406C|ASTN2_ENST00000373996.3_Silent_p.C457C|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	457					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.C406C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTGAGTGGACAAGACATCT	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	89.0	97.0					9																	119802150		2203	4300	6503	SO:0001819	synonymous_variant	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1371T>C	9.37:g.119802150A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37																																																																																					0.537	ASTN2-201	KNOWN	basic	protein_coding	protein_coding			NM_014010	
C15orf40	123207	hgsc.bcm.edu	37	15	83677270	83677270	+	Intron	SNP	C	C	A	rs373204607|rs534261421		TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:83677270C>A	ENST00000513601.2	-	3	374				RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000304177.5_Intron|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000565712.1_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						gattttgtctcaaaaaaaaaa	0.483																																																	0													34.0	33.0	34.0					15																	83677270		2203	4300	6503	SO:0001627	intron_variant	123207			BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.366+29G>T	15.37:g.83677270C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	CCDS32312.2																																																																																				0.483	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2		NM_144597	
ERICH3	127254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	75037720	75037720	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:75037720C>T	ENST00000326665.5	-	14	3892	c.3674G>A	c.(3673-3675)gGa>gAa	p.G1225E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1225	Glu-rich.							p.G1225E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCACCTTTCCTGCTGGCTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											69.0	69.0	69.0					1																	75037720		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3674G>A	1.37:g.75037720C>T	ENSP00000322609:p.Gly1225Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	8.984	0.976167	0.18736	.	.	ENSG00000178965	ENST00000326665	T	0.11385	2.78	4.88	-0.474	0.12108	.	.	.	.	.	T	0.01627	0.0052	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.48801	-0.9003	9	0.02654	T	1	-1.0443	5.9402	0.19189	0.0:0.5706:0.13:0.2993	.	1225	Q5RHP9	CA173_HUMAN	E	1225	ENSP00000322609:G1225E	ENSP00000322609:G1225E	G	-	2	0	C1orf173	74810308	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.826000	0.01705	-0.390000	0.07774	-0.219000	0.12488	GGA		0.627	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			
CCDC116	164592	hgsc.bcm.edu;ucsc.edu	37	22	21990822	21990822	+	Silent	SNP	C	C	T	rs115937546	byFrequency	TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr22:21990822C>T	ENST00000292779.3	+	5	1466	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	435										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ATGAGGAGCTCGCCGACTTCC	0.577													C|||	77	0.0153754	0.0537	0.0072	5008	,	,		19361	0.0		0.001	False		,,,				2504	0.0																0								C		246,4160	145.0+/-179.8	7,232,1964	65.0	57.0	60.0		1305	2.3	0.0	22	dbSNP_132	60	4,8596	3.0+/-9.4	0,4,4296	no	coding-synonymous	CCDC116	NM_152612.2		7,236,6260	TT,TC,CC		0.0465,5.5833,1.9222		435/614	21990822	250,12756	2203	4300	6503	SO:0001819	synonymous_variant	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1305C>T	22.37:g.21990822C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N9Y9	Silent	SNP	ENST00000292779.3	37	CCDS13791.1																																																																																				0.577	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320199.1		NM_152612	
CHD3	1107	broad.mit.edu;hgsc.bcm.edu	37	17	7806304	7806304	+	Silent	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:7806304C>T	ENST00000330494.7	+	22	3570	c.3420C>T	c.(3418-3420)ggC>ggT	p.G1140G	CHD3_ENST00000358181.4_Silent_p.G1140G|CHD3_ENST00000380358.4_Silent_p.G1199G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1140	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G1140G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGCTGGGGGCCTGGGCATCA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	96.0	95.0					17																	7806304		2203	4300	6503	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3420C>T	17.37:g.7806304C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1																																																																																				0.547	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273	
CHST15	51363	hgsc.bcm.edu	37	10	125780753	125780754	+	Intron	DEL	GG	GG	-	rs528840982|rs398015013|rs5788645|rs550185991	byFrequency	TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:125780753_125780754delGG	ENST00000346248.5	-	6	1990				CHST15_ENST00000421115.1_Frame_Shift_Del_p.R456fs|CHST15_ENST00000435907.1_Intron	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGGGGGTACGGGGGGGGGGGG	0.545																																																	0																																										SO:0001627	intron_variant	51363			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1347+17CC>-	10.37:g.125780763_125780764delGG		Somatic		WXS	Illumina HiSeq	Phase_I	O60338|O60474|Q86VM4	Frame_Shift_Del	DEL	ENST00000346248.5	37	CCDS7638.1																																																																																				0.545	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1		NM_015892	
COPG2	26958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	130295934	130295934	+	Silent	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:130295934A>G	ENST00000445977.2	-	9	716	c.627T>C	c.(625-627)ctT>ctC	p.L209L				Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	209					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)	structural molecule activity (GO:0005198)	p.L209L(1)		large_intestine(1)	1	Melanoma(18;0.0435)					TGGAAACAGCAAGTCGATCAT	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	79.0	80.0					7																	130295934		1888	4133	6021	SO:0001819	synonymous_variant	26958			AF157833	CCDS75662.1	7q32	2010-06-22			ENSG00000158623	ENSG00000158623			2237	protein-coding gene	gene with protein product	"""coat protein, nonclathrin, gamma-2-cop"""	604355				10556286, 10995575	Standard	NM_001290033		Approved	2-COP	uc003vqh.1	Q9UBF2	OTTHUMG00000155364	ENST00000445977.2:c.627T>C	7.37:g.130295934A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NH74|Q2NLA0|Q54AC3|Q8WVW8	Silent	SNP	ENST00000445977.2	37																																																																																					0.373	COPG2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_012133	
CXXC1	30827	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47808972	47808972	+	Silent	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr18:47808972G>A	ENST00000285106.6	-	15	2676	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A	MBD1_ENST00000590208.1_5'Flank|MBD1_ENST00000585672.1_5'Flank|MBD1_ENST00000591535.1_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000339998.6_5'Flank|MBD1_ENST00000269468.5_5'Flank|CXXC1_ENST00000589940.1_3'UTR|MBD1_ENST00000347968.3_5'Flank|MBD1_ENST00000398488.1_5'Flank|MBD1_ENST00000353909.3_5'Flank|MBD1_ENST00000398495.2_5'Flank|MBD1_ENST00000424334.2_5'Flank|CXXC1_ENST00000412036.2_Silent_p.A658A|MBD1_ENST00000436910.1_5'Flank|MBD1_ENST00000457839.2_5'Flank|MBD1_ENST00000398493.1_5'Flank|MBD1_ENST00000585595.1_5'Flank|MBD1_ENST00000269471.5_5'Flank|MBD1_ENST00000588937.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	654					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.A654A(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTCAGCGGTCGGCACTGGAGC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											115.0	115.0	115.0					18																	47808972		2203	4300	6503	SO:0001819	synonymous_variant	30827			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1962C>T	18.37:g.47808972G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Silent	SNP	ENST00000285106.6	37	CCDS11945.1																																																																																				0.647	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2		NM_014593	
DNTTIP2	30836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94343391	94343391	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:94343391G>T	ENST00000436063.2	-	2	157	c.100C>A	c.(100-102)Cat>Aat	p.H34N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	34					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H34N(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTTTCTGGATGCGCTTGAATC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											41.0	38.0	39.0					1																	94343391		1874	4117	5991	SO:0001583	missense	30836			AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.100C>A	1.37:g.94343391G>T	ENSP00000411010:p.His34Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443151	0.25987	.	.	ENSG00000067334	ENST00000436063;ENST00000528680	T	0.16073	2.37	4.37	2.45	0.29901	.	0.275476	0.26321	N	0.025053	T	0.03871	0.0109	L	0.34521	1.04	0.18873	N	0.999988	B	0.12013	0.005	B	0.10450	0.005	T	0.33007	-0.9885	10	0.62326	D	0.03	.	4.138	0.10179	0.1905:0.0:0.6243:0.1852	.	34	Q5QJE6	TDIF2_HUMAN	N	34;41	ENSP00000411010:H34N	ENSP00000352137:H34N	H	-	1	0	DNTTIP2	94115979	0.705000	0.27846	0.505000	0.27651	0.021000	0.10359	0.564000	0.23563	0.751000	0.32900	0.644000	0.83932	CAT		0.443	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2		NM_014597	
EFEMP2	30008	hgsc.bcm.edu;ucsc.edu	37	11	65637667	65637667	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:65637667C>T	ENST00000307998.6	-	6	762	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	EFEMP2_ENST00000532648.1_5'Flank|EFEMP2_ENST00000528176.1_Missense_Mutation_p.V178M	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	178	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGCAGGTTCACGCAGCGGTGC	0.672																																																	0													47.0	51.0	50.0					11																	65637667		2201	4295	6496	SO:0001583	missense	30008			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.532G>A	11.37:g.65637667C>T	ENSP00000309953:p.Val178Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	CCDS8116.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137704	0.94517	.	.	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624;ENST00000527378	D;D;D;D	0.88354	-2.34;-2.36;-2.37;-1.72	5.36	5.36	0.76844	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000349	D	0.94089	0.8105	M	0.77313	2.365	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.76071	0.987;0.656	D	0.93204	0.6594	10	0.39692	T	0.17	.	16.9411	0.86218	0.0:1.0:0.0:0.0	.	178;178	E9PRU1;O95967	.;FBLN4_HUMAN	M	178	ENSP00000434151:V178M;ENSP00000309953:V178M;ENSP00000435419:V178M;ENSP00000435963:V178M	ENSP00000309953:V178M	V	-	1	0	EFEMP2	65394243	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	5.789000	0.69029	2.674000	0.91012	0.561000	0.74099	GTG		0.672	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4		NM_016938	
DENND6B	414918	broad.mit.edu;hgsc.bcm.edu	37	22	50752245	50752245	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr22:50752245T>G	ENST00000413817.3	-	14	1272	c.1201A>C	c.(1201-1203)Aag>Cag	p.K401Q	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	401					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.K401Q(1)									CCATATACCTTGAGCAGCCGT	0.677																																																	1	Substitution - Missense(1)	kidney(1)											33.0	39.0	37.0					22																	50752245		2087	4203	6290	SO:0001583	missense	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1201A>C	22.37:g.50752245T>G	ENSP00000391524:p.Lys401Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6X8I5	Missense_Mutation	SNP	ENST00000413817.3	37	CCDS46732.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268640	0.59540	.	.	ENSG00000205593	ENST00000413817	.	.	.	4.85	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	M	0.79693	2.465	0.44719	D	0.997713	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.71394	-0.4606	9	0.36615	T	0.2	-24.2862	7.971	0.30127	0.0:0.0983:0.0:0.9017	.	401;401	Q8NEG7;C9JIV6	F116B_HUMAN;.	Q	401	.	ENSP00000391524:K401Q	K	-	1	0	FAM116B	49094817	0.998000	0.40836	0.999000	0.59377	0.239000	0.25481	2.757000	0.47557	1.800000	0.52685	0.379000	0.24179	AAG		0.677	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3		NM_001001794	
FLCN	201163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17119744	17119744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:17119744delA	ENST00000285071.4	-	11	1704	c.1250delT	c.(1249-1251)ttcfs	p.F417fs	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	417					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAGCCCCAGGAAGTTGCACCG	0.667									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																																								0													97.0	76.0	83.0					17																	17119744		2203	4300	6503	SO:0001589	frameshift_variant	201163	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1250delT	17.37:g.17119744delA	ENSP00000285071:p.Phe417fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Frame_Shift_Del	DEL	ENST00000285071.4	37	CCDS32579.1																																																																																				0.667	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1		NM_144606	
FSTL4	23105	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132585226	132585226	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr5:132585226A>G	ENST00000265342.7	-	7	1019	c.770T>C	c.(769-771)gTg>gCg	p.V257A	CTB-49A3.5_ENST00000515122.1_RNA|CTB-49A3.5_ENST00000504312.1_RNA|FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	257	Ig-like 1.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V257A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACTGTGGTCACACTGACCCT	0.627											OREG0005128	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					1	Substitution - Missense(1)	kidney(1)											76.0	60.0	66.0					5																	132585226		2203	4300	6503	SO:0001583	missense	23105			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.770T>C	5.37:g.132585226A>G	ENSP00000265342:p.Val257Ala	Somatic	1596	WXS	Illumina HiSeq	Phase_I	Q8TBU0|Q9UPU1	Missense_Mutation	SNP	ENST00000265342.7	37	CCDS34238.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472029	0.84533	.	.	ENSG00000053108	ENST00000265342;ENST00000360575	T	0.76839	-1.05	5.21	5.21	0.72293	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.183674	0.46442	D	0.000287	D	0.83889	0.5352	M	0.78285	2.405	0.58432	D	0.999996	D	0.58268	0.982	P	0.60286	0.872	T	0.81915	-0.0714	10	0.07175	T	0.84	-18.1004	14.5596	0.68126	1.0:0.0:0.0:0.0	.	257	Q6MZW2	FSTL4_HUMAN	A	257;88	ENSP00000265342:V257A	ENSP00000265342:V257A	V	-	2	0	FSTL4	132613125	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	7.046000	0.76592	2.094000	0.63399	0.383000	0.25322	GTG		0.627	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1		XM_048786	
GPAA1	8733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145138388	145138388	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr8:145138388G>C	ENST00000355091.4	+	3	472	c.351G>C	c.(349-351)gaG>gaC	p.E117D	GPAA1_ENST00000361036.6_Missense_Mutation_p.E57D|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	117					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.E117D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCAGATGAGACCCACGAGC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											55.0	57.0	56.0					8																	145138388		1955	4145	6100	SO:0001583	missense	8733			AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.351G>C	8.37:g.145138388G>C	ENSP00000347206:p.Glu117Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.790979	0.70452	.	.	ENSG00000197858	ENST00000355091;ENST00000361036;ENST00000524418;ENST00000530258	.	.	.	5.27	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.62109	0.2401	L	0.57536	1.79	0.53688	D	0.999974	D;D	0.63880	0.993;0.991	P;P	0.57548	0.823;0.805	T	0.56780	-0.7922	9	0.19590	T	0.45	-24.1678	9.3255	0.37990	0.188:0.0:0.812:0.0	.	117;57	O43292;O43292-2	GPAA1_HUMAN;.	D	117;57;117;68	.	ENSP00000347206:E117D	E	+	3	2	GPAA1	145210376	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.219000	0.58561	0.536000	0.28733	-0.367000	0.07326	GAG		0.632	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1		NM_003801	
HMGCS2	3158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	120307117	120307117	+	Silent	SNP	C	C	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:120307117C>A	ENST00000369406.3	-	2	286	c.237G>T	c.(235-237)gtG>gtT	p.V79V	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Silent_p.V79V	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	79					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.V79V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTCCTGCTTCCACATTGTTAT	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	129.0	132.0					1																	120307117		2203	4300	6503	SO:0001819	synonymous_variant	3158			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.237G>T	1.37:g.120307117C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Silent	SNP	ENST00000369406.3	37	CCDS905.1																																																																																				0.542	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2		NM_005518	
HSPA12A	259217	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	118464696	118464696	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:118464696A>G	ENST00000369209.3	-	3	324	c.220T>C	c.(220-222)Ttc>Ctc	p.F74L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	74						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.F695L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCCTTGGTGAAGCTGTAGGCA	0.587																																																	1	Substitution - Missense(1)	kidney(1)											120.0	130.0	126.0					10																	118464696		2155	4263	6418	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.220T>C	10.37:g.118464696A>G	ENSP00000358211:p.Phe74Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	A	35	5.546514	0.96488	.	.	ENSG00000165868	ENST00000369209	T	0.03663	3.85	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.14227	0.0344	M	0.72118	2.19	0.80722	D	1	D	0.58620	0.983	P	0.57548	0.823	T	0.00345	-1.1801	10	0.44086	T	0.13	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	74	O43301	HS12A_HUMAN	L	74	ENSP00000358211:F74L	ENSP00000358211:F74L	F	-	1	0	HSPA12A	118454686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.284000	0.95882	2.265000	0.75225	0.533000	0.62120	TTC		0.587	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1		NM_025015	
SPPL2C	162540	hgsc.bcm.edu;ucsc.edu	37	17	43923077	43923077	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr17:43923077delC	ENST00000329196.5	+	1	822	c.805delC	c.(805-807)ctgfs	p.L270fs	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000581125.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	270						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										GCTCATGCTGCTGCTCTACTT	0.567																																																	0													120.0	115.0	116.0					17																	43923077		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.805delC	17.37:g.43923077delC	ENSP00000332488:p.Leu270fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TC67|Q8WVZ6	Frame_Shift_Del	DEL	ENST00000329196.5	37	CCDS32673.1																																																																																				0.567	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1		NM_175882	
KCND3	3752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112524490	112524490	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:112524490C>T	ENST00000315987.2	-	2	1338	c.859G>A	c.(859-861)Gtc>Atc	p.V287I	KCND3_ENST00000369697.1_Missense_Mutation_p.V287I|KCND3_ENST00000302127.4_Missense_Mutation_p.V287I	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	287					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.V287I(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGGAGCGTGACGAAGGCGCCG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											83.0	84.0	84.0					1																	112524490		2203	4300	6503	SO:0001583	missense	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.859G>A	1.37:g.112524490C>T	ENSP00000319591:p.Val287Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825022	0.90955	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97430	-4.38;-4.38;-4.38	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97408	0.9152	L	0.61218	1.895	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.58077	0.832;0.832	D	0.96949	0.9693	10	0.48119	T	0.1	.	19.2827	0.94058	0.0:1.0:0.0:0.0	.	287;287	Q14D71;Q9UK17	.;KCND3_HUMAN	I	287	ENSP00000358711:V287I;ENSP00000319591:V287I;ENSP00000306923:V287I	ENSP00000306923:V287I	V	-	1	0	KCND3	112326013	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.659000	0.90383	0.655000	0.94253	GTC		0.597	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1		NM_172198	
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu	37	10	91476196	91476196	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:91476196T>C	ENST00000371728.3	+	9	1009	c.944T>C	c.(943-945)cTa>cCa	p.L315P	KIF20B_ENST00000260753.4_Missense_Mutation_p.L315P|KIF20B_ENST00000394289.2_Missense_Mutation_p.L315P|KIF20B_ENST00000416354.1_Missense_Mutation_p.L315P	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	315	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.L315P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTTAAAGATCTACAATGGATT	0.294																																																	1	Substitution - Missense(1)	kidney(1)											20.0	21.0	21.0					10																	91476196		2193	4285	6478	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.944T>C	10.37:g.91476196T>C	ENSP00000360793:p.Leu315Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	T	19.53	3.844798	0.71603	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.21	5.21	0.72293	Kinesin, motor domain (4);	0.000000	0.39544	N	0.001331	D	0.91300	0.7257	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.996	D	0.93138	0.6539	10	0.87932	D	0	-6.5291	15.3692	0.74548	0.0:0.0:0.0:1.0	.	315;315	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	P	315	ENSP00000260753:L315P;ENSP00000411545:L315P;ENSP00000377830:L315P;ENSP00000360793:L315P	ENSP00000260753:L315P	L	+	2	0	KIF20B	91466176	1.000000	0.71417	0.962000	0.40283	0.805000	0.45488	7.411000	0.80078	2.099000	0.63709	0.482000	0.46254	CTA		0.294	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195	
MAGI2	9863	hgsc.bcm.edu;ucsc.edu	37	7	78131009	78131010	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:78131009_78131010insC	ENST00000354212.4	-	5	1102_1103	c.849_850insG	c.(847-852)ctgaagfs	p.K284fs	MAGI2_ENST00000535697.1_Frame_Shift_Ins_p.K121fs|MAGI2_ENST00000536571.1_Frame_Shift_Ins_p.K116fs|MAGI2_ENST00000419488.1_Frame_Shift_Ins_p.K284fs|MAGI2_ENST00000522391.1_Frame_Shift_Ins_p.K284fs	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	284					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATCTGCTCCTTCAGCTCCTCAG	0.5																																																	0																																										SO:0001589	frameshift_variant	9863			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.850dupG	7.37:g.78131010_78131010dupC	ENSP00000346151:p.Lys284fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Frame_Shift_Ins	INS	ENST00000354212.4	37	CCDS5594.1																																																																																				0.500	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3		NM_012301	
MAP4	4134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47957988	47957988	+	Silent	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr3:47957988C>T	ENST00000360240.6	-	7	1847	c.1329G>A	c.(1327-1329)gaG>gaA	p.E443E	MAP4_ENST00000395734.3_Silent_p.E443E|MAP4_ENST00000426837.2_Silent_p.E460E|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	443	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.E443E(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCAGGGCTACCTCTGTTTCTG	0.493																																																	2	Substitution - coding silent(2)	kidney(2)											92.0	82.0	85.0					3																	47957988		2203	4300	6503	SO:0001819	synonymous_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1329G>A	3.37:g.47957988C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	CCDS33750.1																																																																																				0.493	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1		NM_002375	
MARK2	2011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63668343	63668343	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:63668343G>A	ENST00000509502.2	+	10	1344	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	MARK2_ENST00000508192.1_Missense_Mutation_p.R327Q|MARK2_ENST00000377810.3_Missense_Mutation_p.R294Q|MARK2_ENST00000502399.3_Missense_Mutation_p.R327Q|MARK2_ENST00000413835.2_Missense_Mutation_p.R327Q|MARK2_ENST00000350490.7_Missense_Mutation_p.R327Q|MARK2_ENST00000402010.2_Missense_Mutation_p.R327Q|MARK2_ENST00000425897.2_Missense_Mutation_p.R294Q|MARK2_ENST00000377809.4_Missense_Mutation_p.R327Q|MARK2_ENST00000315032.8_Missense_Mutation_p.R327Q|MARK2_ENST00000408948.3_Missense_Mutation_p.R294Q|MARK2_ENST00000513765.2_Missense_Mutation_p.R294Q|MARK2_ENST00000361128.5_Missense_Mutation_p.R327Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2									p.R294Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGACCCCCGGCGGACAGGT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											97.0	100.0	99.0					11																	63668343		2201	4297	6498	SO:0001583	missense	2011			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.881G>A	11.37:g.63668343G>A	ENSP00000423974:p.Arg294Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967267	0.53507	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.0	5.0	0.66597	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Protein kinase-like domain (1);	0.181870	0.44688	N	0.000440	T	0.32734	0.0839	N	0.14661	0.345	0.38461	D	0.947216	B;B;B;B;B;B	0.21753	0.004;0.022;0.003;0.06;0.011;0.014	B;B;B;B;B;B	0.13407	0.004;0.004;0.006;0.007;0.004;0.009	T	0.20306	-1.0279	10	0.25106	T	0.35	.	10.7567	0.46241	0.0878:0.0:0.9122:0.0	.	294;294;327;327;327;327	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	327;327;327;327;294;327;327;327;327;294;294;294;294	ENSP00000385751:R327Q;ENSP00000326632:R327Q;ENSP00000367040:R327Q;ENSP00000389184:R327Q;ENSP00000367041:R294Q;ENSP00000425765:R327Q;ENSP00000355091:R327Q;ENSP00000294247:R327Q;ENSP00000423974:R294Q;ENSP00000421075:R294Q;ENSP00000386128:R294Q;ENSP00000415494:R294Q	ENSP00000326632:R327Q	R	+	2	0	MARK2	63424919	0.008000	0.16893	1.000000	0.80357	0.997000	0.91878	0.660000	0.25009	2.583000	0.87209	0.557000	0.71058	CGG		0.547	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2		NM_017490	
MC5R	4161	hgsc.bcm.edu;ucsc.edu	37	18	13826006	13826006	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr18:13826006C>T	ENST00000324750.3	+	1	464	c.242C>T	c.(241-243)gCg>gTg	p.A81V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	81					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTGGCAGTGGCGGACATGCTG	0.527																																																	0													120.0	109.0	112.0					18																	13826006		2203	4300	6503	SO:0001583	missense	4161			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.242C>T	18.37:g.13826006C>T	ENSP00000318077:p.Ala81Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391403	0.83011	.	.	ENSG00000176136	ENST00000324750	T	0.79454	-1.27	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89368	0.6695	M	0.88377	2.95	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	D	0.91646	0.5331	10	0.87932	D	0	.	17.287	0.87145	0.0:1.0:0.0:0.0	.	81	P33032	MC5R_HUMAN	V	81	ENSP00000318077:A81V	ENSP00000318077:A81V	A	+	2	0	MC5R	13816006	1.000000	0.71417	0.042000	0.18584	0.770000	0.43624	7.423000	0.80229	2.311000	0.77944	0.455000	0.32223	GCG		0.527	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1		NM_005913	
MUC17	140453	broad.mit.edu;hgsc.bcm.edu	37	7	100680563	100680563	+	Missense_Mutation	SNP	C	C	A	rs200456398	byFrequency	TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:100680563C>A	ENST00000306151.4	+	3	5930	c.5866C>A	c.(5866-5868)Cct>Act	p.P1956T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1956	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P1956T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCAGGACACCTGTGACCAC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											251.0	247.0	249.0					7																	100680563		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5866C>A	7.37:g.100680563C>A	ENSP00000302716:p.Pro1956Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.185	-1.058875	0.01950	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.932	-1.86	0.07760	.	.	.	.	.	T	0.01976	0.0062	N	0.24115	0.695	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.48980	-0.8986	9	0.09590	T	0.72	.	2.7733	0.05340	0.3197:0.4097:0.2706:0.0	.	1956	Q685J3	MUC17_HUMAN	T	1956	ENSP00000302716:P1956T	ENSP00000302716:P1956T	P	+	1	0	MUC17	100467283	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.512000	0.00957	-1.119000	0.02958	0.134000	0.15878	CCT		0.483	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105	
KMT2C	58508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	151851228	151851228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr7:151851228G>T	ENST00000262189.6	-	48	12361	c.12143C>A	c.(12142-12144)tCa>tAa	p.S4048*	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000355193.2_Nonsense_Mutation_p.S4105*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4048					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S4048*(1)|p.S4105*(1)									TCTTGATTCTGAACCTTTAAA	0.338																																																	2	Substitution - Nonsense(2)	kidney(2)											58.0	61.0	60.0					7																	151851228		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12143C>A	7.37:g.151851228G>T	ENSP00000262189:p.Ser4048*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	54|54	22.503917|22.503917	0.99948|0.99948	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193;ENST00000424877;ENST00000418061	.|.	.|.	.|.	5.48|5.48	3.58|3.58	0.41010|0.41010	.|.	.|0.198066	.|0.24674	.|U	.|0.036529	T|.	0.34250|.	0.0891|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.06588|.	-1.0818|.	4|.	.|0.06757	.|T	.|0.87	.|.	9.4966|9.4966	0.38993|0.38993	0.2281:0.0:0.7719:0.0|0.2281:0.0:0.7719:0.0	.|.	.|.	.|.	.|.	L|X	1608|4048;4105;665;174	.|.	.|ENSP00000262189:S4048X	F|S	-|-	3|2	2|0	MLL3|MLL3	151482161|151482161	1.000000|1.000000	0.71417|0.71417	0.833000|0.833000	0.33012|0.33012	0.822000|0.822000	0.46500|0.46500	2.666000|2.666000	0.46799|0.46799	0.716000|0.716000	0.32124|0.32124	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.338	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
MYO9A	4649	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	72300251	72300251	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:72300251G>C	ENST00000356056.5	-	8	1768	c.1296C>G	c.(1294-1296)atC>atG	p.I432M	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.I413M|MYO9A_ENST00000564571.1_Missense_Mutation_p.I432M|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000566885.1_Missense_Mutation_p.I27M|MYO9A_ENST00000424560.1_Missense_Mutation_p.I432M	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	432	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.I432M(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTGTAACAGATATTACCCA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											124.0	124.0	124.0					15																	72300251		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1296C>G	15.37:g.72300251G>C	ENSP00000348349:p.Ile432Met	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655404	0.67586	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88431	-2.38;-2.38;-2.38	5.03	3.13	0.36017	Myosin head, motor domain (2);	.	.	.	.	D	0.91540	0.7328	L	0.51914	1.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.996;0.999	D;D;D;D	0.91635	0.999;0.955;0.962;0.993	D	0.91402	0.5144	9	0.87932	D	0	.	10.745	0.46175	0.1581:0.0:0.8419:0.0	.	413;432;413;432	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	M	432;432;413;413;432	ENSP00000348349:I432M;ENSP00000399162:I432M;ENSP00000398250:I413M	ENSP00000261864:I413M	I	-	3	3	MYO9A	70087305	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.608000	0.36847	1.241000	0.43820	0.462000	0.41574	ATC		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1		NM_006901	
PCF11	51585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	82877718	82877718	+	Silent	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:82877718T>C	ENST00000298281.4	+	5	2231	c.1779T>C	c.(1777-1779)tcT>tcC	p.S593S		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S593S(1)|p.S692S(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTCCAAGTCTGCCAAAAGAT	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											71.0	72.0	72.0					11																	82877718		1772	3912	5684	SO:0001819	synonymous_variant	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1779T>C	11.37:g.82877718T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	CCDS44689.1																																																																																				0.363	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885	
PTPN4	5775	hgsc.bcm.edu;ucsc.edu	37	2	120690059	120690060	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr2:120690059_120690060insA	ENST00000263708.2	+	14	1901_1902	c.1130_1131insA	c.(1129-1134)tcaatafs	p.I378fs	PTPN4_ENST00000544261.1_Frame_Shift_Ins_p.I11fs	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	378					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGCAGAAATTCAATATCTGATG	0.366																																																	0																																										SO:0001589	frameshift_variant	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1132dupA	2.37:g.120690061_120690061dupA	ENSP00000263708:p.Ile378fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBV8|Q9UDA7	Frame_Shift_Ins	INS	ENST00000263708.2	37	CCDS2129.1																																																																																				0.366	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			
RFX5	5993	hgsc.bcm.edu	37	1	151315565	151315566	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:151315565_151315566insC	ENST00000290524.4	-	11	1125_1126	c.947_948insG	c.(946-948)ggafs	p.G316fs	RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.G316fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.G276fs|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.G316fs	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	316					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTTATTGGCTCCTGGGGCCGA	0.584																																																	0																																										SO:0001589	frameshift_variant	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.948dupG	1.37:g.151315567_151315567dupC	ENSP00000290524:p.Gly316fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z848|D3DV19|E9PFU4|Q5VWC3	Frame_Shift_Ins	INS	ENST00000290524.4	37	CCDS994.1																																																																																				0.584	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6		NM_000449	
RRP12	23223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99120376	99120376	+	Splice_Site	SNP	C	C	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr10:99120376C>A	ENST00000370992.4	-	31	3679		c.e31-1		RRP12_ENST00000536831.1_Splice_Site|RRP12_ENST00000315563.6_Splice_Site|RRP12_ENST00000414986.1_Splice_Site|RRP12_ENST00000479481.1_Splice_Site	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGTGCTTTTTCTATAGAGAGA	0.547																																																	1	Unknown(1)	kidney(1)											147.0	137.0	141.0					10																	99120376		2203	4300	6503	SO:0001630	splice_region_variant	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3568-1G>T	10.37:g.99120376C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Splice_Site	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917976	0.33815	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2638	0.73646	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRP12	99110366	1.000000	0.71417	0.984000	0.44739	0.281000	0.26958	1.900000	0.39828	2.343000	0.79666	0.462000	0.41574	.		0.547	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4		NM_015179	Intron
SERPINB5	5268	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61154215	61154215	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr18:61154215G>A	ENST00000382771.4	+	3	497	c.205G>A	c.(205-207)Gga>Aga	p.G69R	RP11-635N19.3_ENST00000602456.1_RNA|SERPINB5_ENST00000489441.1_Missense_Mutation_p.G69R	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	69					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G69R(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TGTACCCTTTGGATTTCAAAC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											102.0	103.0	102.0					18																	61154215		2203	4300	6503	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.205G>A	18.37:g.61154215G>A	ENSP00000372221:p.Gly69Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073881	0.36566	.	.	ENSG00000206075	ENST00000382771;ENST00000424602	D;D	0.84589	-1.87;-1.87	5.32	5.32	0.75619	Serpin domain (3);	0.000000	0.64402	D	0.000001	D	0.90092	0.6905	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;0.987	D;P	0.83275	0.996;0.613	D	0.87974	0.2738	10	0.31617	T	0.26	.	18.1356	0.89618	0.0:0.0:1.0:0.0	.	69;69	P36952;P36952-2	SPB5_HUMAN;.	R	69	ENSP00000372221:G69R;ENSP00000408821:G69R	ENSP00000372221:G69R	G	+	1	0	SERPINB5	59305195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.309000	0.59135	2.659000	0.90383	0.650000	0.86243	GGA		0.373	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1		NM_002639	
SLC12A2	6558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127466804	127466804	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr5:127466804G>T	ENST00000262461.2	+	5	1283	c.1094G>T	c.(1093-1095)gGt>gTt	p.G365V	SLC12A2_ENST00000343225.4_Missense_Mutation_p.G365V	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	365					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.G365V(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CCAGAATTTGGTGGTGCAATT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											217.0	211.0	213.0					5																	127466804		2203	4300	6503	SO:0001583	missense	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1094G>T	5.37:g.127466804G>T	ENSP00000262461:p.Gly365Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562073	0.86335	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.99804	-6.83;-6.83	4.93	4.93	0.64822	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99887	0.9946	H	0.98664	4.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96236	0.9172	10	0.87932	D	0	.	18.3301	0.90265	0.0:0.0:1.0:0.0	.	365;365	P55011-3;P55011	.;S12A2_HUMAN	V	365	ENSP00000262461:G365V;ENSP00000340878:G365V	ENSP00000262461:G365V	G	+	2	0	SLC12A2	127494703	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.573000	0.86826	0.563000	0.77884	GGT		0.373	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1		NM_001046	
SUPT5H	6829	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39964875	39964875	+	Splice_Site	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr19:39964875T>C	ENST00000599117.1	+	28	3020	c.2653T>C	c.(2653-2655)Tac>Cac	p.Y885H	SUPT5H_ENST00000359191.6_Splice_Site_p.Y881H|SUPT5H_ENST00000598725.1_Splice_Site_p.Y885H|SUPT5H_ENST00000402194.2_Splice_Site_p.Y881H|SUPT5H_ENST00000432763.2_Splice_Site_p.Y885H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	885	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.Y885H(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCTCTGCAGGTACAACACAGA	0.632											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											140.0	139.0	139.0					19																	39964875		2203	4300	6503	SO:0001630	splice_region_variant	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2652-1T>C	19.37:g.39964875T>C		Somatic	889	WXS	Illumina HiSeq	Phase_I	O43279|Q59G52|Q99639	Missense_Mutation	SNP	ENST00000599117.1	37	CCDS12536.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.627069	0.66901	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	L	0.36672	1.1	0.80722	D	1	D;B;B	0.63046	0.992;0.023;0.073	P;B;B	0.59288	0.855;0.049;0.12	T	0.59862	-0.7374	8	.	.	.	-16.7403	13.5134	0.61526	0.0:0.0:0.0:1.0	.	677;881;885	B4DJK4;O00267-2;O00267	.;.;SPT5H_HUMAN	H	885;881;863;885	.	.	Y	+	1	0	SUPT5H	44656715	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.640000	0.83355	2.034000	0.60081	0.379000	0.24179	TAC		0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1		NM_003169	Missense_Mutation
VWA3A	146177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	22162103	22162103	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr16:22162103G>A	ENST00000389398.5	+	30	3313	c.3217G>A	c.(3217-3219)Gtc>Atc	p.V1073I	VWA3A_ENST00000389397.4_Missense_Mutation_p.V175I|VWA3A_ENST00000563755.1_Missense_Mutation_p.V175I	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1073	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)		p.V269I(1)|p.V1073I(1)|p.V175I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTAAATGAAGTCCAAAAACT	0.448																																																	3	Substitution - Missense(3)	kidney(3)											87.0	86.0	86.0					16																	22162103		1933	4137	6070	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3217G>A	16.37:g.22162103G>A	ENSP00000374049:p.Val1073Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499580	0.44455	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.07114	3.22;3.22	5.44	4.49	0.54785	von Willebrand factor, type A (3);	0.151900	0.44285	D	0.000473	T	0.06690	0.0171	L	0.41632	1.29	0.27066	N	0.963436	B;P	0.37500	0.34;0.597	B;B	0.36534	0.214;0.227	T	0.22765	-1.0207	10	0.12103	T	0.63	.	8.2863	0.31930	0.1793:0.0:0.8207:0.0	.	1073;175	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	I	1073;175;696	ENSP00000374049:V1073I;ENSP00000374048:V175I	ENSP00000299840:V696I	V	+	1	0	VWA3A	22069604	1.000000	0.71417	0.752000	0.31206	0.840000	0.47671	3.088000	0.50175	1.290000	0.44636	0.650000	0.86243	GTC		0.448	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			
ZBTB41	360023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197169423	197169423	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr1:197169423T>C	ENST00000367405.4	-	1	249	c.181A>G	c.(181-183)Aga>Gga	p.R61G	CRB1_ENST00000535699.1_5'Flank|ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	61					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R61G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AAAAGCTTTCTCTGATCTGGA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											78.0	83.0	81.0					1																	197169423		2203	4300	6503	SO:0001583	missense	360023				CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.181A>G	1.37:g.197169423T>C	ENSP00000356375:p.Arg61Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259781	0.59321	.	.	ENSG00000177888	ENST00000367405	T	0.06528	3.29	4.96	4.96	0.65561	BTB/POZ fold (1);	0.000000	0.47455	D	0.000238	T	0.05960	0.0155	L	0.27053	0.805	0.38914	D	0.957586	P	0.47409	0.895	B	0.38842	0.283	T	0.33085	-0.9882	10	0.87932	D	0	.	14.6277	0.68635	0.0:0.0:0.0:1.0	.	61	Q5SVQ8	ZBT41_HUMAN	G	61	ENSP00000356375:R61G	ENSP00000356375:R61G	R	-	1	2	ZBTB41	195436046	1.000000	0.71417	0.996000	0.52242	0.886000	0.51366	3.662000	0.54510	1.838000	0.53458	0.254000	0.18369	AGA		0.383	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314	
ZNF770	54989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35274804	35274804	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:35274804A>T	ENST00000356321.4	-	3	1176	c.832T>A	c.(832-834)Tct>Act	p.S278T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	278					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.S278T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCTCCTCAGATTCACCAATC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											48.0	49.0	49.0					15																	35274804		2201	4298	6499	SO:0001583	missense	54989			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.832T>A	15.37:g.35274804A>T	ENSP00000348673:p.Ser278Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	A	0.042	-1.281499	0.01398	.	.	ENSG00000198146	ENST00000356321	T	0.09630	2.96	5.17	2.83	0.33086	.	0.420049	0.19371	U	0.115905	T	0.05135	0.0137	N	0.12182	0.205	0.20821	N	0.999848	B	0.28128	0.201	B	0.26770	0.073	T	0.37126	-0.9719	10	0.28530	T	0.3	-8.3329	5.2783	0.15661	0.6718:0.1543:0.1739:0.0	.	278	Q6IQ21	ZN770_HUMAN	T	278	ENSP00000348673:S278T	ENSP00000348673:S278T	S	-	1	0	ZNF770	33062096	0.007000	0.16637	1.000000	0.80357	0.933000	0.57130	0.484000	0.22308	0.987000	0.38709	0.533000	0.62120	TCT		0.388	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2		NM_014106	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																																	13	Substitution - Missense(13)	kidney(6)|endometrium(4)|prostate(3)											37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-	rs376470858		TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)gagdel	p.E168del	DHX37_ENST00000544745.1_5'Flank	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.69																																																	3	Deletion - In frame(3)	breast(2)|prostate(1)																																								SO:0001651	inframe_deletion	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.502_504delGAG	12.37:g.125465279_125465281delCTC	ENSP00000311135:p.Glu168del	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BUI7|Q9P211	In_Frame_Del	DEL	ENST00000308736.2	37	CCDS9261.1																																																																																				0.690	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032656	
OSBPL5	114879	broad.mit.edu	37	11	3150289	3150289	+	Silent	SNP	C	C	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr11:3150289C>T	ENST00000263650.7	-	2	249	c.90G>A	c.(88-90)cgG>cgA	p.R30R	OSBPL5_ENST00000525498.1_5'Flank|OSBPL5_ENST00000348039.5_Silent_p.R30R|OSBPL5_ENST00000389989.3_Silent_p.R30R|OSBPL5_ENST00000542243.1_5'UTR	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	30					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.R30R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGAGCAAGTTCCGGGTGAGCT	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	38.0	43.0					11																	3150289		2201	4296	6497	SO:0001819	synonymous_variant	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.90G>A	11.37:g.3150289C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Silent	SNP	ENST00000263650.7	37	CCDS31344.1																																																																																				0.667	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2			
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																																	1	Substitution - Missense(1)	kidney(1)																																										0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000561463.1	37																																																																																					0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1		NG_009149	
VHL	7428	broad.mit.edu	37	3	10183714	10183720	+	Frame_Shift_Del	DEL	CGTGCTG	CGTGCTG	-	rs63650860|rs104893827	byFrequency	TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	CGTGCTG	CGTGCTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr3:10183714_10183720delCGTGCTG	ENST00000256474.2	+	1	1023_1029	c.183_189delCGTGCTG	c.(181-189)cccgtgctgfs	p.PVL61fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.PVL61fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	61					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.V62fs*5(8)|p.P61P(4)|p.E52_S65del(2)|p.V62fs*68(2)|p.?(2)|p.L63fs*4(2)|p.R64fs*63(2)|p.P59_P61del(1)|p.G57fs*69(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.P61fs*61(1)|p.L63*(1)|p.P61fs*70(1)|p.G57fs*4(1)|p.R60fs*70(1)|p.V62fs*3(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GGCCGCGGCCCGTGCTGCGCTCGGTGA	0.729		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"""	33	Deletion - Frameshift(20)|Substitution - coding silent(4)|Deletion - In frame(3)|Complex - frameshift(2)|Unknown(2)|Substitution - Nonsense(1)|Complex - deletion inframe(1)	kidney(31)|soft_tissue(1)|pancreas(1)	GRCh37	CD941803|CI011896|CM981997	VHL	D|I|M	rs104893827|rs5030651																																			SO:0001589	frameshift_variant	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.183_189delCGTGCTG	3.37:g.10183714_10183720delCGTGCTG	ENSP00000256474:p.Pro61fs	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.729	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WNT7A	7476	broad.mit.edu	37	3	13921263	13921263	+	Silent	SNP	G	G	T			TCGA-BP-4961-01A-01D-1462-08	TCGA-BP-4961-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2b3d42d-a775-4dfd-8d26-276487654093	f94e3b28-7dfa-4eae-98b3-9f133e05c91b	g.chr3:13921263G>T	ENST00000285018.4	-	1	355	c.51C>A	c.(49-51)ggC>ggA	p.G17G	WNT7A_ENST00000497808.1_5'Flank	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	17					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.G17G(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTAGACCATGCCCAGGCTGA	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	47.0	47.0					3																	13921263		2203	4300	6503	SO:0001819	synonymous_variant	7476			D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.51C>A	3.37:g.13921263G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q96H90|Q9Y560	Silent	SNP	ENST00000285018.4	37	CCDS2616.1																																																																																				0.701	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2		NM_004625	
