#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
ABCC4	10257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95862961	95862961	+	Silent	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr13:95862961C>A	ENST00000376887.4	-	5	720	c.606G>T	c.(604-606)gtG>gtT	p.V202V	ABCC4_ENST00000431522.1_Silent_p.V202V|ABCC4_ENST00000538287.1_3'UTR|snoU13_ENST00000459449.1_RNA|ABCC4_ENST00000412704.1_Silent_p.V202V|ABCC4_ENST00000536256.1_Silent_p.V127V	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	202	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.V202V(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CAAACTTGTTCACATCATTGG	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											181.0	138.0	152.0					13																	95862961		2203	4300	6503	SO:0001819	synonymous_variant	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.606G>T	13.37:g.95862961C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	CCDS9474.1																																																																																				0.453	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2		NM_005845	
ACOT2	10965	hgsc.bcm.edu;ucsc.edu	37	14	74036108	74036108	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr14:74036108delA	ENST00000238651.5	+	1	346	c.164delA	c.(163-165)cagfs	p.Q55fs	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	55					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CAGGTTGGTCAGATCATTAGG	0.647																																																	0													127.0	113.0	118.0					14																	74036108		2203	4300	6503	SO:0001589	frameshift_variant	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.164delA	14.37:g.74036108delA	ENSP00000238651:p.Gln55fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q3I5F8|Q53EK4|Q9NUX4	Frame_Shift_Del	DEL	ENST00000238651.5	37	CCDS9816.1																																																																																				0.647	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414435.1		NM_006821	
ADH1B	125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	100232771	100232771	+	Missense_Mutation	SNP	C	C	T	rs140683864		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:100232771C>T	ENST00000305046.8	-	7	938	c.871G>A	c.(871-873)Gtc>Atc	p.V291I	ADH1B_ENST00000394887.3_Missense_Mutation_p.V251I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	291					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.V291I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CCTACGATGACGCTTGTGCCA	0.478																																																	1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	221.0	205.0	211.0		871	3.7	0.0	4	dbSNP_134	211	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADH1B	NM_000668.4	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	291/376	100232771	2,13004	2203	4300	6503	SO:0001583	missense	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.871G>A	4.37:g.100232771C>T	ENSP00000306606:p.Val291Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251255	0.80135	2.27E-4	1.16E-4	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.19806	2.12;2.12	3.66	3.66	0.41972	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.063541	0.64402	D	0.000008	T	0.35856	0.0946	M	0.74647	2.275	0.80722	D	1	B;B;B	0.29301	0.202;0.241;0.023	B;B;B	0.42386	0.37;0.386;0.383	T	0.34950	-0.9808	10	0.44086	T	0.13	-15.5662	15.3228	0.74135	0.0:1.0:0.0:0.0	.	278;251;291	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	I	291;251;278	ENSP00000306606:V291I;ENSP00000378351:V251I	ENSP00000306606:V291I	V	-	1	0	ADH1B	100451794	1.000000	0.71417	0.022000	0.16811	0.027000	0.11550	5.057000	0.64294	1.722000	0.51474	0.561000	0.74099	GTC		0.478	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1		NM_000668	
ANKFN1	162282	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	54403670	54403670	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:54403670C>A	ENST00000318698.2	+	3	186	c.151C>A	c.(151-153)Caa>Aaa	p.Q51K	ANKFN1_ENST00000566473.2_Missense_Mutation_p.Q51K	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	51								p.Q51K(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGCACTGGACAATTACCAAC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											152.0	138.0	142.0					17																	54403670		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.151C>A	17.37:g.54403670C>A	ENSP00000321627:p.Gln51Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000318698.2	37	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833829	0.50951	.	.	ENSG00000153930	ENST00000318698	T	0.21734	1.99	6.07	5.11	0.69529	.	0.314127	0.28425	N	0.015396	T	0.17195	0.0413	L	0.36672	1.1	0.27259	N	0.958688	B	0.11235	0.004	B	0.09377	0.004	T	0.05566	-1.0877	10	0.33141	T	0.24	-3.1616	12.1733	0.54172	0.0:0.9225:0.0:0.0775	.	51	Q8N957	ANKF1_HUMAN	K	51	ENSP00000321627:Q51K	ENSP00000321627:Q51K	Q	+	1	0	ANKFN1	51758669	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.218000	0.42889	2.885000	0.99019	0.655000	0.94253	CAA		0.398	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1		NM_153228	
ANKS1B	56899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100206021	100206021	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr12:100206021G>C	ENST00000547776.2	-	3	283	c.284C>G	c.(283-285)cCt>cGt	p.P95R	ANKS1B_ENST00000329257.7_Missense_Mutation_p.P95R|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	95						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.P95R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGTGAATAGGAAAATACCC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											92.0	95.0	94.0					12																	100206021		1899	4108	6007	SO:0001583	missense	56899			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.284C>G	12.37:g.100206021G>C	ENSP00000449629:p.Pro95Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.598588	0.87055	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.75477	0.29;0.29;-0.94	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93852	0.7146	9	.	.	.	-9.0438	19.8034	0.96518	0.0:0.0:1.0:0.0	.	95;95	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	R	95	ENSP00000449629:P95R;ENSP00000331381:P95R;ENSP00000449894:P95R	.	P	-	2	0	ANKS1B	98730152	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.669000	0.90835	0.655000	0.94253	CCT		0.398	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140	
ATP6V1A	523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	113499964	113499964	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:113499964G>T	ENST00000273398.3	+	3	258	c.150G>T	c.(148-150)ttG>ttT	p.L50F	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.L17F	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	50					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.L50F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	ACAGCGAATTGGTTGGAGAGA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											179.0	163.0	169.0					3																	113499964		2203	4300	6503	SO:0001583	missense	523			L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.150G>T	3.37:g.113499964G>T	ENSP00000273398:p.Leu50Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813325	0.70912	.	.	ENSG00000114573	ENST00000273398;ENST00000538620;ENST00000496747;ENST00000475322	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.62	2.84	0.33178	ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal (1);ATPase, F1/A1 complex, alpha/beta subunit, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.95053	0.8398	H	0.99336	4.52	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.92480	0.5992	10	0.87932	D	0	-11.8292	5.1575	0.15042	0.2816:0.0:0.5865:0.1319	.	50	P38606	VATA_HUMAN	F	50;17;17;50	ENSP00000273398:L50F;ENSP00000439874:L17F;ENSP00000417545:L17F;ENSP00000419294:L50F	ENSP00000273398:L50F	L	+	3	2	ATP6V1A	114982654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.906000	0.48735	0.727000	0.32360	0.591000	0.81541	TTG		0.438	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1		NM_001690	
PRR27	401137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	71024217	71024217	+	Missense_Mutation	SNP	G	G	T	rs149016682		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:71024217G>T	ENST00000344526.5	+	3	437	c.248G>T	c.(247-249)gGa>gTa	p.G83V	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.G83V	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		83	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)		p.G83V(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGATTCCCCTAT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											249.0	231.0	237.0					4																	71024217		2203	4300	6503	SO:0001583	missense	401137																														ENST00000344526.5:c.248G>T	4.37:g.71024217G>T	ENSP00000343172:p.Gly83Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308747	0.40895	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.34667	1.35;1.35	4.18	1.33	0.21861	.	.	.	.	.	T	0.32224	0.0822	N	0.24115	0.695	0.09310	N	1	D	0.61697	0.99	P	0.56865	0.808	T	0.10660	-1.0620	9	0.48119	T	0.1	-0.8925	2.6764	0.05082	0.2514:0.0:0.519:0.2296	.	83	Q6MZM9	CD040_HUMAN	V	83	ENSP00000426249:G83V;ENSP00000343172:G83V	ENSP00000343172:G83V	G	+	2	0	C4orf40	71058806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.130000	0.15850	0.436000	0.26393	0.609000	0.83330	GGA		0.488	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			
C4orf36	132989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	87808950	87808950	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:87808950C>G	ENST00000473559.1	-	7	980	c.317G>C	c.(316-318)aGg>aCg	p.R106T	C4orf36_ENST00000503001.1_5'Flank|C4orf36_ENST00000295898.3_Missense_Mutation_p.R106T			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	106								p.R106T(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		ACCGGCTGGCCTTTCCCTCAG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											126.0	119.0	121.0					4																	87808950		2203	4300	6503	SO:0001583	missense	132989			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.317G>C	4.37:g.87808950C>G	ENSP00000420949:p.Arg106Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000473559.1	37	CCDS3615.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887315	0.52014	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308	T;T;T	0.35789	1.29;1.29;1.29	5.33	-2.04	0.07343	.	0.566136	0.17732	N	0.163867	T	0.25754	0.0627	N	0.24115	0.695	0.09310	N	1	P	0.36535	0.557	B	0.41860	0.368	T	0.27088	-1.0084	10	0.66056	D	0.02	-5.6638	10.1045	0.42524	0.0:0.3303:0.0:0.6697	.	106	Q96KX1	CD036_HUMAN	T	106	ENSP00000295898:R106T;ENSP00000420949:R106T;ENSP00000421141:R106T	ENSP00000295898:R106T	R	-	2	0	C4orf36	88027974	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-1.537000	0.02206	-0.328000	0.08539	0.561000	0.74099	AGG		0.433	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253045.2		NM_144645	
ZGRF1	55345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	113540750	113540750	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:113540750T>C	ENST00000505019.1	-	6	573	c.448A>G	c.(448-450)Att>Gtt	p.I150V	C4orf21_ENST00000309071.5_Missense_Mutation_p.I150V|C4orf21_ENST00000445203.2_Missense_Mutation_p.I119V	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		150						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.I150V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GGAGAAAAAATAGTAGGGCCA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											64.0	69.0	67.0					4																	113540750		2202	4300	6502	SO:0001583	missense	55345																														ENST00000505019.1:c.448A>G	4.37:g.113540750T>C	ENSP00000424737:p.Ile150Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37		.	.	.	.	.	.	.	.	.	.	T	3.369	-0.128758	0.06753	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203;ENST00000503172	T;T;T	0.81330	-1.48;2.02;1.6	5.43	-0.391	0.12446	.	0.571573	0.16854	N	0.196803	T	0.57213	0.2038	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.006;0.004	B;B	0.11329	0.002;0.006	T	0.45234	-0.9275	10	0.45353	T	0.12	-3.3954	5.2162	0.15344	0.6526:0.0:0.2251:0.1223	.	150;150	Q86YA3;G5EA02	CD021_HUMAN;.	V	150;150;119;150	ENSP00000424737:I150V;ENSP00000309095:I150V;ENSP00000390505:I119V	ENSP00000309095:I150V	I	-	1	0	C4orf21	113760199	0.044000	0.20184	0.000000	0.03702	0.021000	0.10359	1.417000	0.34770	-0.251000	0.09542	-0.417000	0.06048	ATT		0.413	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			
TMEM245	23731	hgsc.bcm.edu;ucsc.edu	37	9	111800395	111800395	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:111800395C>A	ENST00000374586.3	-	15	2157	c.2126G>T	c.(2125-2127)gGg>gTg	p.G709V		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	709						integral component of membrane (GO:0016021)		p.G709V(1)									ATCAAACACCCCTCTGGAATG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											90.0	89.0	90.0					9																	111800395		1877	4104	5981	SO:0001583	missense	0			AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.2126G>T	9.37:g.111800395C>A	ENSP00000363714:p.Gly709Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.626270|4.626270	0.87560|0.87560	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	T|T	0.46819|0.41065	0.86|1.01	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50599|0.50599	0.1625|0.1625	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.989;1.0|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|7	0.87932|0.15952	D|T	0|0.53	-13.9537|-13.9537	18.9567|18.9567	0.92661|0.92661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	709;709|.	Q9H330-2;Q9H330|.	.;CI005_HUMAN|.	V|S	709|301	ENSP00000363714:G709V|ENSP00000394798:R301S	ENSP00000223608:G709V|ENSP00000394798:R301S	G|R	-|-	2|3	0|2	C9orf5|C9orf5	110840216|110840216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	7.784000|7.784000	0.85713|0.85713	2.476000|2.476000	0.83614|0.83614	0.313000|0.313000	0.20887|0.20887	GGG|AGG		0.388	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2		NM_032012	
CADM2	253559	broad.mit.edu;hgsc.bcm.edu	37	3	85961624	85961624	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:85961624A>T	ENST00000407528.2	+	5	666	c.604A>T	c.(604-606)Atc>Ttc	p.I202F	CADM2_ENST00000405615.2_Missense_Mutation_p.I204F|CADM2_ENST00000383699.3_Missense_Mutation_p.I211F	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	202	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I211F(1)|p.I204F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTGGCGGTCATCTGCAGAGT	0.473																																																	2	Substitution - Missense(2)	kidney(2)											95.0	76.0	82.0					3																	85961624		2203	4300	6503	SO:0001583	missense	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.604A>T	3.37:g.85961624A>T	ENSP00000384575:p.Ile202Phe	Somatic		WXS	Illumina HiSeq	Phase_I	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458992	0.63401	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.75704	-0.96;-0.96;-0.96	5.5	4.36	0.52297	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.193302	0.53938	D	0.000046	T	0.68128	0.2967	L	0.42245	1.32	0.38088	D	0.936879	B;B;B	0.34372	0.451;0.396;0.45	B;B;B	0.38378	0.212;0.178;0.272	T	0.70303	-0.4909	10	0.66056	D	0.02	.	9.7565	0.40506	0.9134:0.0:0.0865:0.0	.	204;211;202	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	F	211;202;204	ENSP00000373200:I211F;ENSP00000384575:I202F;ENSP00000384193:I204F	ENSP00000373200:I211F	I	+	1	0	CADM2	86044314	1.000000	0.71417	0.759000	0.31340	0.937000	0.57800	4.859000	0.62954	0.916000	0.36871	0.482000	0.46254	ATC		0.473	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184	
CAMKK1	84254	broad.mit.edu;hgsc.bcm.edu	37	17	3786739	3786739	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:3786739C>A	ENST00000348335.2	-	5	646	c.498G>T	c.(496-498)aaG>aaT	p.K166N	CAMKK1_ENST00000158166.5_Missense_Mutation_p.K166N|CAMKK1_ENST00000381771.2_Missense_Mutation_p.K166N|CAMKK1_ENST00000381769.2_Missense_Mutation_p.K193N	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.K166N(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGCCATACTGCTTCAGTAACT	0.507																																																	2	Substitution - Missense(2)	kidney(2)											128.0	105.0	113.0					17																	3786739		2203	4300	6503	SO:0001583	missense	84254			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.498G>T	17.37:g.3786739C>A	ENSP00000323118:p.Lys166Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593398	0.66219	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	4.58	3.61	0.41365	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	L	0.42632	1.34	0.58432	D	0.999999	D;D	0.67145	0.991;0.996	D;D	0.70016	0.944;0.967	T	0.74429	-0.3668	10	0.87932	D	0	-33.8294	10.5113	0.44864	0.0:0.9052:0.0:0.0948	.	166;166	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	N	193;166;166;166	ENSP00000371188:K193N;ENSP00000323118:K166N;ENSP00000371190:K166N;ENSP00000158166:K166N	ENSP00000158166:K166N	K	-	3	2	CAMKK1	3733488	0.975000	0.34042	1.000000	0.80357	0.994000	0.84299	0.215000	0.17562	1.150000	0.42419	0.650000	0.86243	AAG		0.507	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1		NM_032294, NM_172206, NM_172207	
COL27A1	85301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116999978	116999978	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:116999978G>A	ENST00000356083.3	+	19	3101	c.2710G>A	c.(2710-2712)Ggg>Agg	p.G904R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	904	Collagen-like 5.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G904R(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGTTTCCCGGGCCCCCTGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											66.0	63.0	64.0					9																	116999978		2203	4300	6503	SO:0001583	missense	85301			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2710G>A	9.37:g.116999978G>A	ENSP00000348385:p.Gly904Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590530	0.66219	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99353	-5.77	5.66	5.66	0.87406	.	.	.	.	.	D	0.99591	0.9852	H	0.95402	3.665	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.97992	1.0355	9	0.87932	D	0	.	15.2384	0.73450	0.0:0.0:1.0:0.0	.	904	Q8IZC6	CORA1_HUMAN	R	904	ENSP00000348385:G904R	ENSP00000348385:G904R	G	+	1	0	COL27A1	116039799	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.509000	0.73725	2.675000	0.91044	0.655000	0.94253	GGG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1		NM_032888	
CRTAC1	55118	hgsc.bcm.edu;ucsc.edu	37	10	99771036	99771037	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:99771036_99771037delGA	ENST00000370597.3	-	2	437_438	c.82_83delTC	c.(82-84)tccfs	p.S28fs	CRTAC1_ENST00000298819.4_Frame_Shift_Del_p.S28fs|CRTAC1_ENST00000370591.2_Frame_Shift_Del_p.S28fs	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	28						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AGCCCGCTGGGACCCCTCAGTG	0.51																																																	0																																										SO:0001589	frameshift_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.82_83delTC	10.37:g.99771036_99771037delGA	ENSP00000359629:p.Ser28fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Frame_Shift_Del	DEL	ENST00000370597.3	37	CCDS31266.1																																																																																				0.510	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1		NM_018058	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113301593	113301593	+	Splice_Site	SNP	C	C	A	rs200499629		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr8:113301593C>A	ENST00000297405.5	-	57	9393		c.e57+1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCAAGTGGTACCTGAACAATG	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Unknown(2)	kidney(2)											130.0	128.0	128.0					8																	113301593		2203	4299	6502	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9148+1G>T	8.37:g.113301593C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.908283	0.92107	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113370769	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.732000	0.84908	2.941000	0.99782	0.655000	0.94253	.		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	Intron
CTAGE1	64693	broad.mit.edu;hgsc.bcm.edu	37	18	19996969	19996969	+	5'Flank	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr18:19996969G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.S269L			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)		p.S269L(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ACCATCTTCCGATTCACTGTT	0.378																																																	2	Substitution - Missense(2)	kidney(2)											99.0	100.0	100.0					18																	19996969		2203	4299	6502	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996969G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37		.	.	.	.	.	.	.	.	.	.	G	0.116	-1.131698	0.01756	.	.	ENSG00000212710	ENST00000391403	T	0.39787	1.06	0.741	0.741	0.18336	.	.	.	.	.	T	0.20129	0.0484	N	0.12471	0.22	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.22347	-1.0219	8	.	.	.	.	4.8168	0.13371	0.0:0.0:1.0:0.0	.	269	Q96RT6	CTGE2_HUMAN	L	269	ENSP00000375220:S269L	.	S	-	2	0	CTAGE1	18250967	1.000000	0.71417	0.108000	0.21378	0.100000	0.18952	0.480000	0.22244	0.670000	0.31165	0.449000	0.29647	TCG		0.378	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1		NM_022663, NM_172241	
CTR9	9646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	10785191	10785191	+	Splice_Site	SNP	A	A	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:10785191A>G	ENST00000361367.2	+	9	1385	c.959A>G	c.(958-960)gAa>gGa	p.E320G		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	320					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)		p.E320G(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTCTTTAGGAAGATTATGAC	0.294																																																	1	Substitution - Missense(1)	kidney(1)											82.0	84.0	84.0					11																	10785191		2201	4294	6495	SO:0001630	splice_region_variant	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.958-1A>G	11.37:g.10785191A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	2.640	-0.284351	0.05605	.	.	ENSG00000198730	ENST00000361367;ENST00000524523	T;T	0.50548	0.74;0.77	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	N	0.01146	-0.985	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28459	-1.0043	10	0.02654	T	1	-29.1638	16.1657	0.81754	1.0:0.0:0.0:0.0	.	320	Q6PD62	CTR9_HUMAN	G	320;271	ENSP00000355013:E320G;ENSP00000431458:E271G	ENSP00000355013:E320G	E	+	2	0	CTR9	10741767	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.400000	0.79949	2.276000	0.75962	0.528000	0.53228	GAA		0.294	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1		NM_014633	Missense_Mutation
CTSB	1508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11710851	11710851	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr8:11710851T>G	ENST00000353047.6	-	2	366	c.113A>C	c.(112-114)aAt>aCt	p.N38T	CTSB_ENST00000533455.1_Missense_Mutation_p.N38T|CTSB_ENST00000530640.2_Missense_Mutation_p.N38T|CTSB_ENST00000415599.2_Missense_Mutation_p.N38T|CTSB_ENST00000434271.1_Missense_Mutation_p.N38T|CTSB_ENST00000453527.2_Missense_Mutation_p.N38T|CTSB_ENST00000534510.1_Missense_Mutation_p.N38T|CTSB_ENST00000345125.3_Missense_Mutation_p.N38T|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000531089.1_Missense_Mutation_p.N38T	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	38					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.N38T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCACGTGGTATTCCGTTTGTT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											153.0	115.0	128.0					8																	11710851		2203	4300	6503	SO:0001583	missense	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.113A>C	8.37:g.11710851T>G	ENSP00000345672:p.Asn38Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177693	0.38413	.	.	ENSG00000164733	ENST00000434271;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000415599;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000534636;ENST00000533572;ENST00000530296;ENST00000526195;ENST00000527243;ENST00000534149;ENST00000526645;ENST00000530573;ENST00000505496;ENST00000524500;ENST00000531502;ENST00000527215;ENST00000532656;ENST00000534382;ENST00000528965	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.16	5.16	0.70880	Peptidase C1A, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	M	0.87456	2.885	0.58432	D	0.99999	B	0.24533	0.105	B	0.33890	0.172	T	0.59188	-0.7501	10	0.56958	D	0.05	.	14.1793	0.65564	0.0:0.0:0.0:1.0	.	38	P07858	CATB_HUMAN	T	38	ENSP00000415889:N38T;ENSP00000345672:N38T;ENSP00000435105:N38T;ENSP00000433215:N38T;ENSP00000409917:N38T;ENSP00000411254:N38T;ENSP00000342070:N38T;ENSP00000432244:N38T;ENSP00000434217:N38T;ENSP00000436159:N38T;ENSP00000433995:N38T;ENSP00000435074:N38T;ENSP00000436627:N38T;ENSP00000434725:N38T;ENSP00000436122:N38T;ENSP00000431518:N38T;ENSP00000435650:N38T;ENSP00000436074:N38T;ENSP00000435886:N38T;ENSP00000431143:N38T;ENSP00000435260:N38T;ENSP00000433929:N38T	ENSP00000342070:N38T	N	-	2	0	CTSB	11748260	1.000000	0.71417	0.820000	0.32676	0.260000	0.26232	5.682000	0.68182	1.937000	0.56155	0.379000	0.24179	AAT		0.602	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3		NM_147780	
CYP2D6	1565	hgsc.bcm.edu	37	22	42524924	42524924	+	Silent	SNP	A	A	G	rs111606937		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr22:42524924A>G	ENST00000360608.5	-	4	642	c.528T>C	c.(526-528)ggT>ggC	p.G176G	CYP2D6_ENST00000359033.4_Silent_p.G125G|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.G176G	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	176					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)	p.G176G(2)|p.G125G(2)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGTCCAAGAGACCGTTGGGGC	0.667																																																	4	Substitution - coding silent(4)	prostate(4)											16.0	15.0	16.0					22																	42524924		2178	4269	6447	SO:0001819	synonymous_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.528T>C	22.37:g.42524924A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	N	6.286	0.420922	0.11928	.	.	ENSG00000100197	ENST00000413640	.	.	.	3.52	-7.03	0.01584	.	.	.	.	.	T	0.35941	0.0949	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.49523	-0.8931	5	0.72032	D	0.01	.	7.5516	0.27800	0.394:0.4262:0.1798:0.0	.	.	.	.	A	124	.	ENSP00000414432:V124A	V	-	2	0	CYP2D6	40854868	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.972000	0.03802	-2.634000	0.00433	-0.684000	0.03749	GTC		0.667	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1			
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu	37	7	111517174	111517174	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr7:111517174G>T	ENST00000437633.1	-	17	1912	c.1656C>A	c.(1654-1656)ttC>ttA	p.F552L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.F552L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	552	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.F552L(1)|p.F540L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TATTCCCAAGGAAAATGCCCT	0.348																																																	2	Substitution - Missense(2)	kidney(2)											64.0	66.0	65.0					7																	111517174		1819	4092	5911	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1656C>A	7.37:g.111517174G>T	ENSP00000404179:p.Phe552Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.179|8.179	0.793491|0.793491	0.16327|0.16327	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000423057;ENST00000445943	T;T|.	0.02656|.	4.21;4.21|.	6.06|6.06	5.19|5.19	0.71726|0.71726	.|.	0.455201|.	0.25929|.	N|.	0.027393|.	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.00879|0.00879	-1.12|-1.12	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.06405|.	0.002;0.002;0.001|.	T|T	0.11372|0.11372	-1.0590|-1.0590	10|5	0.06365|.	T|.	0.9|.	.|.	7.1962|7.1962	0.25853|0.25853	0.139:0.0:0.7219:0.1391|0.139:0.0:0.7219:0.1391	.|.	552;552;552|.	Q149N2;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	L|Y	540;552;552;540;551|4;540	ENSP00000410746:F552L;ENSP00000404179:F552L|.	ENSP00000345432:F540L|.	F|S	-|-	3|2	2|0	DOCK4|DOCK4	111304410|111304410	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	0.772000|0.772000	0.26647|0.26647	1.575000|1.575000	0.49775|0.49775	0.650000|0.650000	0.86243|0.86243	TTC|TCC		0.348	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705	
ECHDC3	79746	hgsc.bcm.edu;ucsc.edu	37	10	11805257	11805257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:11805257delT	ENST00000379215.4	+	5	837	c.626delT	c.(625-627)attfs	p.I209fs	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	209						mitochondrion (GO:0005739)	catalytic activity (GO:0003824)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						GGTGAGCCCATTTCTGCCCAG	0.637																																																	0													75.0	60.0	65.0					10																	11805257		2203	4300	6503	SO:0001589	frameshift_variant	79746			AF275677	CCDS7084.1	10p14	2010-04-30	2010-04-30		ENSG00000134463	ENSG00000134463			23489	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 3"""			12477932	Standard	NM_024693		Approved	FLJ20909	uc001ikw.4	Q96DC8	OTTHUMG00000017675	ENST00000379215.4:c.626delT	10.37:g.11805257delT	ENSP00000368517:p.Ile209fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53HR9|Q5W0J7|Q8WYY8|Q9BVL8|Q9H7G4	Frame_Shift_Del	DEL	ENST00000379215.4	37	CCDS7084.1																																																																																				0.637	ECHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046771.1		NM_024693	
EPB41L3	23136	broad.mit.edu;hgsc.bcm.edu	37	18	5410602	5410602	+	Missense_Mutation	SNP	G	G	A	rs373780287		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr18:5410602G>A	ENST00000341928.2	-	14	2424	c.2084C>T	c.(2083-2085)aCg>aTg	p.T695M	EPB41L3_ENST00000400111.3_Missense_Mutation_p.T526M|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T695M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T526M|EPB41L3_ENST00000427684.2_De_novo_Start_InFrame|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T526M|EPB41L3_ENST00000542146.1_De_novo_Start_InFrame	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	695	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T695M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCGGTGTCCGTGCGCTCACT	0.557																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/THR	0,4406		0,0,2203	103.0	67.0	79.0		2084	5.2	0.9	18		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPB41L3	NM_012307.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	695/1088	5410602	1,13005	2203	4300	6503	SO:0001583	missense	23136			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2084C>T	18.37:g.5410602G>A	ENSP00000343158:p.Thr695Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429240	0.83776	0.0	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.84660	-1.71;-1.88;-1.71;-1.84	5.24	5.24	0.73138	.	0.058714	0.64402	D	0.000002	D	0.87625	0.6224	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.996;0.996;0.998;0.998	D	0.89460	0.3736	10	0.62326	D	0.03	.	18.8177	0.92084	0.0:0.0:1.0:0.0	.	526;87;417;526;695	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	M	695;417;526;417;695;526	ENSP00000343158:T695M;ENSP00000441174:T526M;ENSP00000341138:T695M;ENSP00000382981:T526M	ENSP00000343158:T695M	T	-	2	0	EPB41L3	5400602	1.000000	0.71417	0.939000	0.37840	0.949000	0.60115	9.138000	0.94501	2.453000	0.82957	0.591000	0.81541	ACG		0.557	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1		NM_012307	
EPHB2	2048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	23191471	23191471	+	Missense_Mutation	SNP	G	G	A	rs528777153	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:23191471G>A	ENST00000400191.3	+	5	1087	c.1069G>A	c.(1069-1071)Gtc>Atc	p.V357I	EPHB2_ENST00000374627.1_Missense_Mutation_p.V351I|EPHB2_ENST00000544305.1_Missense_Mutation_p.V357I|EPHB2_ENST00000374632.3_Missense_Mutation_p.V357I|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000374630.3_Missense_Mutation_p.V357I|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)	p.V357I(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAGGACCTCGTCTACAACAT	0.647													G|||	4	0.000798722	0.0	0.0	5008	,	,		16456	0.0		0.0	False		,,,				2504	0.0041																1	Substitution - Missense(1)	kidney(1)											64.0	71.0	68.0					1																	23191471		2203	4300	6503	SO:0001583	missense	2048			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1069G>A	1.37:g.23191471G>A	ENSP00000383053:p.Val357Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37		.	.	.	.	.	.	.	.	.	.	G	17.85	3.489664	0.64074	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.41	5.41	0.78517	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.52008	0.1708	M	0.61703	1.905	0.41412	D	0.987745	B;P;P;P	0.47545	0.029;0.897;0.897;0.756	B;B;B;B	0.43386	0.005;0.418;0.418;0.216	T	0.57435	-0.7812	10	0.59425	D	0.04	.	11.3592	0.49633	0.0824:0.0:0.9176:0.0	.	357;357;375;357	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	I	357;357;357;357;357;351	ENSP00000444174:V357I;ENSP00000363761:V357I;ENSP00000383053:V357I;ENSP00000363763:V357I;ENSP00000363758:V351I	ENSP00000363755:V357I	V	+	1	0	EPHB2	23064058	1.000000	0.71417	0.808000	0.32385	0.981000	0.71138	5.628000	0.67791	2.816000	0.96949	0.563000	0.77884	GTC		0.647	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2		NM_017449	
ESM1	11082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54277917	54277917	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr5:54277917C>T	ENST00000381405.4	-	2	504	c.359G>A	c.(358-360)gGc>gAc	p.G120D	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	120					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)	p.G120D(1)		breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GTCACAGATGCCTGACTGGCA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											108.0	102.0	104.0					5																	54277917		2203	4300	6503	SO:0001583	missense	11082			X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.359G>A	5.37:g.54277917C>T	ENSP00000370812:p.Gly120Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R4G3|Q15330|Q3V4E3|Q96ES3	Missense_Mutation	SNP	ENST00000381405.4	37	CCDS3963.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102832	0.94245	.	.	ENSG00000164283	ENST00000381405	T	0.33654	1.4	5.78	4.88	0.63580	.	0.110120	0.64402	D	0.000010	T	0.48295	0.1492	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.45614	-0.9249	10	0.59425	D	0.04	-17.7412	16.2261	0.82293	0.1335:0.8665:0.0:0.0	.	120	Q9NQ30	ESM1_HUMAN	D	120	ENSP00000370812:G120D	ENSP00000370812:G120D	G	-	2	0	ESM1	54313674	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	5.550000	0.67268	2.734000	0.93682	0.563000	0.77884	GGC		0.507	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2		NM_007036	
ETNK1	55500	hgsc.bcm.edu	37	12	22778110	22778110	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr12:22778110C>A	ENST00000266517.4	+	1	102	c.13C>A	c.(13-15)Cgc>Agc	p.R5S	RP11-268P4.4_ENST00000542076.1_RNA|ETNK1_ENST00000335148.3_Missense_Mutation_p.R5S	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	5					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)	p.R5S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTCTGCGGCCGCCCGCGGTC	0.711																																					Esophageal Squamous(42;87 913 3224 6226 43339)												2	Substitution - Missense(2)	kidney(2)											8.0	11.0	10.0					12																	22778110		2078	4127	6205	SO:0001583	missense	55500			BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.13C>A	12.37:g.22778110C>A	ENSP00000266517:p.Arg5Ser	Somatic		WXS	Illumina HiSeq	Phase_I	G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	CCDS8698.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136611	0.56936	.	.	ENSG00000139163	ENST00000266517;ENST00000381409;ENST00000335148	T	0.58652	0.32	4.62	0.472	0.16758	.	1.290430	0.06012	N	0.649712	T	0.35335	0.0928	N	0.08118	0	0.21675	N	0.999599	B;B;P	0.35226	0.047;0.006;0.491	B;B;B	0.32724	0.03;0.012;0.151	T	0.30416	-0.9979	10	0.87932	D	0	0.6881	6.0287	0.19669	0.0:0.4894:0.3309:0.1797	.	5;5;5	E9PD44;Q9HBU6;G5E969	.;EKI1_HUMAN;.	S	5	ENSP00000266517:R5S	ENSP00000266517:R5S	R	+	1	0	ETNK1	22669377	0.000000	0.05858	0.990000	0.47175	0.984000	0.73092	-0.471000	0.06631	-0.094000	0.12374	0.558000	0.71614	CGC		0.711	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2		NM_018638	
FAM83A	84985	broad.mit.edu;hgsc.bcm.edu	37	8	124204198	124204198	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr8:124204198C>A	ENST00000518448.1	+	3	2650	c.636C>A	c.(634-636)gaC>gaA	p.D212E	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.D212E|FAM83A_ENST00000276699.6_Missense_Mutation_p.D212E|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000536633.1_Missense_Mutation_p.D212E			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	212								p.D212E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATCTCTGACAGTCACCTCA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											159.0	140.0	147.0					8																	124204198		2203	4300	6503	SO:0001583	missense	84985			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.636C>A	8.37:g.124204198C>A	ENSP00000428876:p.Asp212Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378674	0.24944	.	.	ENSG00000147689	ENST00000518448;ENST00000536633;ENST00000318462;ENST00000276699	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	5.57	2.75	0.32379	.	0.218133	0.47093	D	0.000247	T	0.07324	0.0185	L	0.28458	0.855	0.54753	D	0.999982	B;B	0.25772	0.049;0.134	B;B	0.23574	0.018;0.047	T	0.25502	-1.0130	10	0.02654	T	1	-42.3694	6.8124	0.23812	0.0:0.6005:0.1636:0.2359	.	212;212	Q86UY5-3;Q86UY5	.;FA83A_HUMAN	E	212	ENSP00000428876:D212E;ENSP00000445218:D212E;ENSP00000323034:D212E;ENSP00000276699:D212E	ENSP00000276699:D212E	D	+	3	2	FAM83A	124273379	1.000000	0.71417	0.549000	0.28204	0.976000	0.68499	1.145000	0.31577	0.278000	0.22164	0.561000	0.74099	GAC		0.498	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1		NM_032899	
FARSA	2193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	13041068	13041068	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:13041068C>G	ENST00000314606.4	-	4	490	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	FARSA_ENST00000588025.1_Missense_Mutation_p.E198Q|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Missense_Mutation_p.E158Q	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	158					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.E158Q(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TTCCTCAGCTCGCTCCTCTCC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											170.0	138.0	149.0					19																	13041068		2203	4300	6503	SO:0001583	missense	2193			U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.472G>C	19.37:g.13041068C>G	ENSP00000320309:p.Glu158Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.921962	0.73213	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.65549	-0.16;0.41	5.66	5.66	0.87406	.	0.053324	0.64402	D	0.000001	T	0.69602	0.3129	M	0.83603	2.65	0.80722	D	1	P;B;B	0.52061	0.95;0.149;0.149	B;B;B	0.43536	0.423;0.019;0.019	T	0.75175	-0.3410	10	0.51188	T	0.08	-37.933	18.5168	0.90938	0.0:1.0:0.0:0.0	.	158;158;158	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	Q	158	ENSP00000320309:E158Q;ENSP00000396548:E158Q	ENSP00000320309:E158Q	E	-	1	0	FARSA	12902068	1.000000	0.71417	0.756000	0.31282	0.979000	0.70002	6.714000	0.74692	2.679000	0.91253	0.563000	0.77884	GAG		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1		NM_004461	
GDF10	2662	broad.mit.edu	37	10	48429220	48429220	+	Silent	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:48429220G>A	ENST00000224605.2	-	2	931	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	222					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.S222S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCAGCTGGGCGGAGAGGAGCA	0.706																																																	1	Substitution - coding silent(1)	kidney(1)											10.0	15.0	14.0					10																	48429220		2169	4284	6453	SO:0001819	synonymous_variant	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.666C>T	10.37:g.48429220G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	CCDS7220.1																																																																																				0.706	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1		NM_004962	
GEMIN8	54960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	14038611	14038611	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chrX:14038611C>A	ENST00000380523.4	-	4	376	c.58G>T	c.(58-60)Gta>Tta	p.V20L	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.V20L	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	20					spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.V20L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTGCATATACCGGATGAGAA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											99.0	90.0	93.0					X																	14038611		2203	4300	6503	SO:0001583	missense	54960			BC020785	CCDS14159.1	Xp22	2010-03-16	2006-11-24	2006-11-24	ENSG00000046647	ENSG00000046647			26044	protein-coding gene	gene with protein product			"""family with sequence similarity 51, member A1"""	FAM51A1		16434402	Standard	NM_017856		Approved	FLJ20514	uc004cwd.3	Q9NWZ8	OTTHUMG00000021160	ENST00000380523.4:c.58G>T	X.37:g.14038611C>A	ENSP00000369895:p.Val20Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C4AMC4|Q2LJ66|Q6ZV27	Missense_Mutation	SNP	ENST00000380523.4	37	CCDS14159.1	.	.	.	.	.	.	.	.	.	.	c	9.818	1.185031	0.21870	.	.	ENSG00000046647	ENST00000380523;ENST00000398355;ENST00000332885	T;T;T	0.45668	0.89;0.89;0.89	5.11	4.25	0.50352	.	0.376662	0.26383	N	0.024684	T	0.41026	0.1141	M	0.71581	2.175	0.09310	N	0.999998	P	0.40431	0.717	B	0.37198	0.243	T	0.41360	-0.9513	10	0.66056	D	0.02	.	10.1541	0.42812	0.0:0.8286:0.0:0.1714	.	20	Q9NWZ8	GEMI8_HUMAN	L	20	ENSP00000369895:V20L;ENSP00000381398:V20L;ENSP00000369894:V20L	ENSP00000369894:V20L	V	-	1	0	GEMIN8	13948532	0.005000	0.15991	0.003000	0.11579	0.091000	0.18340	1.904000	0.39868	0.953000	0.37825	0.594000	0.82650	GTA		0.448	GEMIN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055815.1		NM_017856	
HNRNPK	3190	broad.mit.edu;hgsc.bcm.edu	37	9	86586212	86586212	+	Missense_Mutation	SNP	T	T	A	rs376555582		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:86586212T>A	ENST00000376264.2	-	13	1326	c.1068A>T	c.(1066-1068)gaA>gaT	p.E356D	HNRNPK_ENST00000376263.3_Missense_Mutation_p.E356D|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E356D|MIR7-1_ENST00000384871.1_RNA|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E356D|RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Missense_Mutation_p.E356D	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	356	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|single-stranded DNA binding (GO:0003697)	p.E356D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCATCTGCCATTCTGATGGGC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											132.0	131.0	131.0					9																	86586212		2203	4300	6503	SO:0001583	missense	3190				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.1068A>T	9.37:g.86586212T>A	ENSP00000365440:p.Glu356Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Missense_Mutation	SNP	ENST00000376264.2	37	CCDS6667.1	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877642	0.72294	.	.	ENSG00000165119	ENST00000376281;ENST00000376264;ENST00000376263;ENST00000376268;ENST00000351839;ENST00000435158;ENST00000360384;ENST00000376258;ENST00000457156;ENST00000376256	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.45	1.9	0.25705	.	0.074706	0.53938	D	0.000055	T	0.26231	0.0640	L	0.36672	1.1	0.32282	N	0.567505	B;B;P;P;B;B;P;B	0.42757	0.38;0.016;0.789;0.789;0.027;0.241;0.745;0.016	B;B;B;B;B;B;B;B	0.40066	0.133;0.008;0.318;0.24;0.018;0.103;0.251;0.008	T	0.32214	-0.9915	10	0.11794	T	0.64	-2.1457	6.355	0.21397	0.0:0.3645:0.0:0.6355	.	332;321;356;351;356;332;356;356	B4DUQ1;Q5T6W5;Q5EC54;B4DFF1;P61978-2;P61978-3;P61978;Q6IBN1	.;.;.;.;.;.;HNRPK_HUMAN;.	D	356;356;356;356;356;321;356;351;332;287	ENSP00000365458:E356D;ENSP00000365440:E356D;ENSP00000365439:E356D;ENSP00000317788:E356D;ENSP00000353552:E356D	ENSP00000317788:E356D	E	-	3	2	HNRNPK	85776032	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	-0.093000	0.11111	0.140000	0.18849	0.533000	0.62120	GAA		0.383	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052846.2			
IMPA2	3613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	11999109	11999109	+	Silent	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr18:11999109A>T	ENST00000269159.3	+	2	395	c.153A>T	c.(151-153)gcA>gcT	p.A51A	IMPA2_ENST00000588752.1_3'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588927.1_5'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	51					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.A51A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CATCAGCTGCAGATCTTGTGA	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											138.0	138.0	138.0					18																	11999109		2203	4300	6503	SO:0001819	synonymous_variant	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.153A>T	18.37:g.11999109A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ29|Q9UJT3	Silent	SNP	ENST00000269159.3	37	CCDS11855.1																																																																																				0.408	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254601.1			
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26417412	26417412	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr10:26417412T>C	ENST00000265944.5	+	20	2373	c.2207T>C	c.(2206-2208)aTt>aCt	p.I736T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	736	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I736T(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCATTAACATTGCAAATGAA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											80.0	75.0	77.0					10																	26417412		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2207T>C	10.37:g.26417412T>C	ENSP00000265944:p.Ile736Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801192	0.90538	.	.	ENSG00000095777	ENST00000265944	T	0.71817	-0.6	5.99	5.99	0.97316	Myosin head, motor domain (3);	0.046492	0.85682	D	0.000000	D	0.82728	0.5100	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.82748	-0.0304	10	0.46703	T	0.11	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	736	Q8NEV4	MYO3A_HUMAN	T	736	ENSP00000265944:I736T	ENSP00000265944:I736T	I	+	2	0	MYO3A	26457418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.291000	0.77112	0.533000	0.62120	ATT		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433	
NF2	4771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30067836	30067836	+	Nonsense_Mutation	SNP	C	C	T	rs74315499		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr22:30067836C>T	ENST00000338641.4	+	11	1462	c.1021C>T	c.(1021-1023)Cga>Tga	p.R341*	NF2_ENST00000397789.3_Nonsense_Mutation_p.R341*|NF2_ENST00000353887.4_Nonsense_Mutation_p.R258*|NF2_ENST00000361676.4_Nonsense_Mutation_p.R299*|NF2_ENST00000361452.4_Nonsense_Mutation_p.R300*|NF2_ENST00000347330.5_Intron|NF2_ENST00000403999.3_Nonsense_Mutation_p.R341*|NF2_ENST00000413209.2_Intron|NF2_ENST00000334961.7_Nonsense_Mutation_p.R258*|NF2_ENST00000361166.4_Nonsense_Mutation_p.R341*|NF2_ENST00000403435.1_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	341	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.R341*(22)|p.?(3)|p.M334fs*4(1)|p.M334_Q362del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCGCCTCGCTCGAGAGAAGCA	0.567			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	27	Substitution - Nonsense(22)|Unknown(3)|Deletion - In frame(1)|Deletion - Frameshift(1)	meninges(12)|soft_tissue(6)|large_intestine(2)|pleura(2)|kidney(2)|central_nervous_system(1)|skin(1)|stomach(1)	GRCh37	CM930516	NF2	M	rs74315499						83.0	75.0	78.0					22																	30067836		2203	4300	6503	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1021C>T	22.37:g.30067836C>T	ENSP00000344666:p.Arg341*	Somatic		WXS	Illumina HiSeq	Phase_I	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	33	5.258801	0.95368	.	.	ENSG00000186575	ENST00000338641;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.66	3.38	0.38709	.	0.055487	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8185	0.70052	0.2339:0.7661:0.0:0.0	.	.	.	.	X	341;300;341;341;258;258;341;299;341	.	.	R	+	1	2	NF2	28397836	0.749000	0.28305	0.842000	0.33263	0.994000	0.84299	1.510000	0.35790	2.681000	0.91329	0.462000	0.41574	CGA		0.567	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3		NM_000268	
NOM1	64434	hgsc.bcm.edu	37	7	156743209	156743211	+	In_Frame_Del	DEL	GAG	GAG	-	rs540622203	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr7:156743209_156743211delGAG	ENST00000275820.3	+	1	793_795	c.778_780delGAG	c.(778-780)gagdel	p.E264del		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	264	Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ggacgaaagtgaggaggaggagg	0.552														5	0.000998403	0.0015	0.0	5008	,	,		18692	0.002		0.0	False		,,,				2504	0.001																0																																										SO:0001651	inframe_deletion	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.778_780delGAG	7.37:g.156743218_156743220delGAG	ENSP00000275820:p.Glu264del	Somatic		WXS	Illumina HiSeq	Phase_I	Q96I08	In_Frame_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																				0.552	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400	
NPAS4	266743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66189623	66189623	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:66189623T>A	ENST00000311034.2	+	2	384	c.208T>A	c.(208-210)Tca>Aca	p.S70T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	70	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.S70T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGGCTTCTCTCAGCTCAAGA	0.577											OREG0003368	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NPAS4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					1	Substitution - Missense(1)	kidney(1)											47.0	48.0	48.0					11																	66189623		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.208T>A	11.37:g.66189623T>A	ENSP00000311196:p.Ser70Thr	Somatic	1089	WXS	Illumina HiSeq	Phase_I	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.443549	0.83993	.	.	ENSG00000174576	ENST00000311034	T	0.49432	0.78	4.8	4.8	0.61643	PAS (1);	0.000000	0.45361	D	0.000367	T	0.36880	0.0983	L	0.31207	0.915	0.46131	D	0.998881	B	0.32396	0.369	B	0.35039	0.194	T	0.19811	-1.0294	10	0.31617	T	0.26	-7.8014	12.6089	0.56540	0.0:0.0:0.0:1.0	.	70	Q8IUM7	NPAS4_HUMAN	T	70	ENSP00000311196:S70T	ENSP00000311196:S70T	S	+	1	0	NPAS4	65946199	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.016000	0.40971	2.142000	0.66516	0.460000	0.39030	TCA		0.577	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1		NM_178864	
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50779973	50779973	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr2:50779973A>T	ENST00000406316.2	-	9	2987	c.1511T>A	c.(1510-1512)aTa>aAa	p.I504K	NRXN1_ENST00000404971.1_Missense_Mutation_p.I544K|NRXN1_ENST00000401669.2_Missense_Mutation_p.I504K|NRXN1_ENST00000406859.3_Missense_Mutation_p.I504K|NRXN1_ENST00000402717.3_Missense_Mutation_p.I496K|NRXN1_ENST00000405472.3_Missense_Mutation_p.I496K|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	504	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.I544K(1)|p.I545K(1)|p.I504K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATCAAATGATATGGAGCCAGT	0.408																																																	3	Substitution - Missense(3)	kidney(3)											157.0	146.0	150.0					2																	50779973		1876	4094	5970	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1511T>A	2.37:g.50779973A>T	ENSP00000384311:p.Ile504Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810585	0.90707	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.88355	0.6414	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.85130	0.997;0.982;0.997	D	0.91247	0.5026	10	0.87932	D	0	.	16.371	0.83361	1.0:0.0:0.0:0.0	.	544;504;496	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	544;504;496;504;545;496;504	ENSP00000385142:I544K;ENSP00000384311:I504K;ENSP00000434015:I496K;ENSP00000385017:I504K;ENSP00000385434:I496K;ENSP00000385681:I504K	ENSP00000385017:I504K	I	-	2	0	NRXN1	50633477	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.267000	0.75376	0.477000	0.44152	ATA		0.408	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			
OPTC	26254	broad.mit.edu;hgsc.bcm.edu	37	1	203472874	203472874	+	Splice_Site	SNP	G	G	C			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:203472874G>C	ENST00000367222.2	+	7	1140		c.e7+1			NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin						negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTCCCAGGTAAGAACCCT	0.567																																																	0													31.0	31.0	31.0					1																	203472874		2203	4298	6501	SO:0001630	splice_region_variant	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.996+1G>C	1.37:g.203472874G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2G4	Splice_Site	SNP	ENST00000367222.2	37	CCDS1439.1																																																																																				0.567	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1		NM_014359	Intron
OR4K14	122740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20483200	20483200	+	Silent	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr14:20483200A>T	ENST00000305045.2	-	1	152	c.153T>A	c.(151-153)tcT>tcA	p.S51S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S51S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCAGGGATCAGAAATTACAG	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	76.0	78.0					14																	20483200		2203	4300	6503	SO:0001819	synonymous_variant	122740				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.153T>A	14.37:g.20483200A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	CCDS32027.1																																																																																				0.463	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			
OR51B4	79339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5323105	5323105	+	Silent	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:5323105C>G	ENST00000380224.1	-	1	121	c.72G>C	c.(70-72)cgG>cgC	p.R24R	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	24					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R24R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATAGAGATCCGGTAGTGAA	0.473											OREG0003718	type=REGULATORY REGION|Gene=OR51B4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					1	Substitution - coding silent(1)	kidney(1)											88.0	91.0	90.0					11																	5323105		2201	4297	6498	SO:0001819	synonymous_variant	79339			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.72G>C	11.37:g.5323105C>G		Somatic	625	WXS	Illumina HiSeq	Phase_I	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																				0.473	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2		NM_033179	
P2RY2	5029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	72945224	72945224	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr11:72945224C>A	ENST00000311131.2	+	3	487	c.20C>A	c.(19-21)cCc>cAc	p.P7H	P2RY2_ENST00000393597.2_Missense_Mutation_p.P7H|P2RY2_ENST00000393596.2_Missense_Mutation_p.P7H	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	7					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.P7H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GACCTGGGCCCCTGGAATGAC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											83.0	73.0	77.0					11																	72945224		2200	4293	6493	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.20C>A	11.37:g.72945224C>A	ENSP00000310305:p.Pro7His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424778	0.43020	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.72725	-0.68;-0.68;-0.68	4.79	-3.65	0.04502	.	1.598120	0.03862	N	0.274156	T	0.50582	0.1624	N	0.22421	0.69	0.19300	N	0.99997	B	0.02656	0.0	B	0.04013	0.001	T	0.19128	-1.0315	10	0.40728	T	0.16	.	1.4888	0.02453	0.1241:0.3706:0.243:0.2624	.	7	P41231	P2RY2_HUMAN	H	7	ENSP00000377222:P7H;ENSP00000310305:P7H;ENSP00000377221:P7H	ENSP00000310305:P7H	P	+	2	0	P2RY2	72622872	0.008000	0.16893	0.011000	0.14972	0.465000	0.32709	-0.080000	0.11339	-0.784000	0.04528	0.467000	0.42956	CCC		0.642	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1		NM_176072	
PCDHB16	57717	broad.mit.edu	37	5	140564017	140564017	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr5:140564017G>T	ENST00000361016.2	+	1	3038	c.1883G>T	c.(1882-1884)aGg>aTg	p.R628M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R628M(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACCGCCAGGCTGCTGAGC	0.692																																																	1	Substitution - Missense(1)	kidney(1)											23.0	24.0	24.0					5																	140564017		2048	4022	6070	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1883G>T	5.37:g.140564017G>T	ENSP00000354293:p.Arg628Met	Somatic		WXS	Illumina GAIIx	Phase_I	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	18.25	3.581869	0.65992	.	.	ENSG00000196963	ENST00000361016	T	0.53857	0.6	3.96	3.96	0.45880	Cadherin (4);Cadherin-like (1);	0.000000	0.35207	N	0.003380	T	0.75598	0.3871	M	0.87328	2.875	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70714	-0.4796	10	0.87932	D	0	.	15.696	0.77499	0.0:0.0:1.0:0.0	.	628	Q9NRJ7	PCDBG_HUMAN	M	628	ENSP00000354293:R628M	ENSP00000354293:R628M	R	+	2	0	PCDHB16	140544201	0.020000	0.18652	0.861000	0.33841	0.813000	0.45954	2.123000	0.41996	1.771000	0.52183	0.298000	0.19748	AGG		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957	
PRR12	57479	broad.mit.edu;hgsc.bcm.edu	37	19	50099582	50099582	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:50099582G>A	ENST00000418929.2	+	4	2002	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)	p.E664K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTTGGTGGGCGAGGACGGGGC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											13.0	16.0	15.0					19																	50099582		1885	4046	5931	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1990G>A	19.37:g.50099582G>A	ENSP00000394510:p.Glu664Lys	Somatic		WXS	Illumina HiSeq	Phase_I	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393200	0.25118	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.51	3.51	0.40186	.	.	.	.	.	T	0.25082	0.0609	.	.	.	0.28097	N	0.931553	P	0.42692	0.787	B	0.34418	0.182	T	0.13791	-1.0496	7	0.59425	D	0.04	.	8.9753	0.35932	0.1128:0.0:0.8872:0.0	.	664	Q9ULL5-3	.	K	664	.	ENSP00000394510:E664K	E	+	1	0	PRR12	54791394	0.982000	0.34865	0.997000	0.53966	0.808000	0.45660	0.780000	0.26760	1.992000	0.58205	0.297000	0.19635	GAG		0.682	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719	
PSMD2	5708	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184019697	184019697	+	Missense_Mutation	SNP	G	G	A	rs201776756	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:184019697G>A	ENST00000310118.4	+	5	1100	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	PSMD2_ENST00000459910.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.R22Q|PSMD2_ENST00000439383.1_Missense_Mutation_p.R51Q	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	181					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.R181Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AAGGTCCAGCGGGAGCCTCTG	0.542													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16701	0.0		0.001	False		,,,				2504	0.0				Colon(24;313 636 6917 9932 15554)												1	Substitution - Missense(1)	kidney(1)											83.0	81.0	82.0					3																	184019697		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.542G>A	3.37:g.184019697G>A	ENSP00000310129:p.Arg181Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.189	1.025588	0.19512	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.40756	1.02;1.94;1.94	4.69	3.82	0.43975	Armadillo-type fold (1);	0.125717	0.53938	D	0.000054	T	0.22205	0.0535	N	0.17474	0.49	0.33892	D	0.637441	B;B	0.12630	0.006;0.003	B;B	0.09377	0.004;0.001	T	0.22695	-1.0209	10	0.12766	T	0.61	-12.7471	7.8299	0.29336	0.2492:0.0:0.7508:0.0	.	22;181	E9PCS3;Q13200	.;PSMD2_HUMAN	Q	181;173;22;51	ENSP00000310129:R181Q;ENSP00000402618:R22Q;ENSP00000416028:R51Q	ENSP00000310129:R181Q	R	+	2	0	PSMD2	185502391	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	4.362000	0.59467	1.200000	0.43188	0.603000	0.83216	CGG		0.542	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1		NM_002808	
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160275160	160275160	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr4:160275160A>T	ENST00000264431.4	+	22	4549	c.4130A>T	c.(4129-4131)cAc>cTc	p.H1377L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1377					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.H1365L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCCTGCCCACATAGCTGTG	0.453																																																	2	Substitution - Missense(2)	kidney(1)|central_nervous_system(1)											41.0	42.0	42.0					4																	160275160		1887	4087	5974	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.4130A>T	4.37:g.160275160A>T	ENSP00000264431:p.His1377Leu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593368	0.46214	.	.	ENSG00000109756	ENST00000264431	T	0.36878	1.23	6.17	6.17	0.99709	.	0.101533	0.64402	D	0.000002	T	0.33789	0.0875	L	0.36672	1.1	0.46113	D	0.998877	B	0.22909	0.077	B	0.23275	0.045	T	0.07539	-1.0767	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1377	Q9Y4G8	RPGF2_HUMAN	L	1377	ENSP00000264431:H1377L	ENSP00000264431:H1377L	H	+	2	0	RAPGEF2	160494610	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	4.766000	0.62279	2.371000	0.80710	0.533000	0.62120	CAC		0.453	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247	
RGS11	8786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	321411	321411	+	Missense_Mutation	SNP	C	C	T	rs377094004		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr16:321411C>T	ENST00000397770.3	-	11	753	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	RGS11_ENST00000316163.5_Missense_Mutation_p.V225I|RGS11_ENST00000359740.5_Missense_Mutation_p.V235I|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	246	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.V246I(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCAAGGCAGACGGAGGACTTC	0.652																																																	1	Substitution - Missense(1)	kidney(1)											62.0	60.0	60.0					16																	321411		2203	4300	6503	SO:0001583	missense	8786			AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.736G>A	16.37:g.321411C>T	ENSP00000380876:p.Val246Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531093	0.13127	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.22945	1.93;1.93;1.93	5.04	-3.63	0.04529	G-protein gamma domain (4);	0.876863	0.09822	N	0.751330	T	0.10766	0.0263	N	0.11201	0.11	0.38259	D	0.941812	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.04013	0.001;0.001;0.001	T	0.26573	-1.0099	10	0.23302	T	0.38	-3.0E-4	7.0475	0.25055	0.142:0.1561:0.0:0.7018	.	235;246;246	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	I	246;225;235	ENSP00000380876:V246I;ENSP00000319069:V225I;ENSP00000352778:V235I	ENSP00000319069:V225I	V	-	1	0	RGS11	261412	0.016000	0.18221	0.026000	0.17262	0.642000	0.38348	-0.276000	0.08514	-0.495000	0.06659	0.455000	0.32223	GTC		0.652	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			
SERPINI2	5276	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167184993	167184993	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:167184993C>A	ENST00000476257.1	-	4	626	c.328G>T	c.(328-330)Gcc>Tcc	p.A110S	SERPINI2_ENST00000465031.1_5'Flank|SERPINI2_ENST00000461846.1_Missense_Mutation_p.A110S|SERPINI2_ENST00000471111.1_Missense_Mutation_p.A110S|SERPINI2_ENST00000264677.4_Missense_Mutation_p.A110S			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	110					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A110S(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGGTAGAGGGCATTGGCAAGA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											120.0	120.0	120.0					3																	167184993		2203	4300	6503	SO:0001583	missense	5276			AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.328G>T	3.37:g.167184993C>A	ENSP00000420621:p.Ala110Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000476257.1	37	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703333	0.30232	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.65	5.65	0.86999	Serpin domain (3);	0.233852	0.42821	D	0.000655	D	0.86481	0.5943	L	0.31157	0.91	0.36972	D	0.893893	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	D	0.83665	0.0163	10	0.13853	T	0.58	.	14.9388	0.70978	0.0:0.9297:0.0:0.0703	.	110;110	B4DDY9;O75830	.;SPI2_HUMAN	S	110;110;110;110;110;95	ENSP00000420621:A110S;ENSP00000417692:A110S;ENSP00000264677:A110S;ENSP00000419407:A110S;ENSP00000417752:A110S;ENSP00000419255:A95S	ENSP00000264677:A110S	A	-	1	0	SERPINI2	168667687	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.187000	0.50950	2.672000	0.90937	0.655000	0.94253	GCC		0.343	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1		NM_006217	
SPATA20	64847	broad.mit.edu;hgsc.bcm.edu	37	17	48629019	48629019	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:48629019C>T	ENST00000356488.4	+	12	1759	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.P515L|SPATA20_ENST00000006658.6_Missense_Mutation_p.P575L	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	559					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)	p.P575L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TACACCGGCCCTGGGGGGACT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											30.0	31.0	31.0					17																	48629019		2202	4298	6500	SO:0001583	missense	64847				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1676C>T	17.37:g.48629019C>T	ENSP00000348878:p.Pro559Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295398	0.23564	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.28666	1.6;1.6;1.6	5.39	0.635	0.17723	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.954960	0.08725	N	0.902864	T	0.21718	0.0523	L	0.42581	1.335	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.06405	0.001;0.002	T	0.29119	-1.0022	10	0.37606	T	0.19	-19.7495	2.4	0.04399	0.4452:0.3032:0.1042:0.1475	.	559;575	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	L	575;559;515	ENSP00000006658:P575L;ENSP00000348878:P559L;ENSP00000376935:P515L	ENSP00000006658:P575L	P	+	2	0	SPATA20	45984018	0.000000	0.05858	0.003000	0.11579	0.553000	0.35397	0.381000	0.20619	0.610000	0.30035	0.561000	0.74099	CCT		0.637	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1		NM_022827	
SPEN	23013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	16203144	16203144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:16203144delC	ENST00000375759.3	+	3	1056	c.852delC	c.(850-852)atcfs	p.I284fs	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	284	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTGATTCAATCAGCAGCAGCA	0.473																																																	0													79.0	75.0	76.0					1																	16203144		2192	4273	6465	SO:0001589	frameshift_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.852delC	1.37:g.16203144delC	ENSP00000364912:p.Ile284fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	CCDS164.1																																																																																				0.473	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1		NM_015001	
SUPT6H	6830	broad.mit.edu	37	17	27024072	27024072	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:27024072T>G	ENST00000314616.6	+	30	4464	c.4181T>G	c.(4180-4182)cTg>cGg	p.L1394R	SUPT6H_ENST00000347486.4_Missense_Mutation_p.L1394R	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1394	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L1394R(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCTTCAGCCTGGGAGCCACT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											71.0	55.0	60.0					17																	27024072		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4181T>G	17.37:g.27024072T>G	ENSP00000319104:p.Leu1394Arg	Somatic		WXS	Illumina GAIIx	Phase_I	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750056	0.89753	.	.	ENSG00000109111	ENST00000314616	T	0.33438	1.41	5.94	5.94	0.96194	SH2 motif (4);	0.000000	0.85682	D	0.000000	T	0.66036	0.2749	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74777	-0.3550	10	0.66056	D	0.02	-12.0622	16.3951	0.83601	0.0:0.0:0.0:1.0	.	1394	Q7KZ85	SPT6H_HUMAN	R	1394	ENSP00000319104:L1394R	ENSP00000319104:L1394R	L	+	2	0	SUPT6H	24048199	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.272000	0.75746	0.460000	0.39030	CTG		0.577	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2		NM_003170	
SYT17	51760	hgsc.bcm.edu;ucsc.edu	37	16	19195340	19195340	+	Silent	SNP	G	G	A	rs75241864	byFrequency	TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr16:19195340G>A	ENST00000355377.2	+	5	1220	c.822G>A	c.(820-822)ctG>ctA	p.L274L	SYT17_ENST00000562711.2_Silent_p.L270L|SYT17_ENST00000562034.1_Silent_p.L213L|SYT17_ENST00000568115.1_Silent_p.L213L	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	274	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGAGGACCCTGCTCCTGACCG	0.562													G|||	32	0.00638978	0.0234	0.0014	5008	,	,		12112	0.0		0.0	False		,,,				2504	0.0																0								G		101,4293	80.4+/-118.8	2,97,2098	137.0	131.0	133.0		822	5.6	1.0	16	dbSNP_132	133	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SYT17	NM_016524.2		2,99,6396	AA,AG,GG		0.0233,2.2986,0.7927		274/475	19195340	103,12891	2197	4300	6497	SO:0001819	synonymous_variant	51760				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.822G>A	16.37:g.19195340G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O43330|Q9NZ18	Silent	SNP	ENST00000355377.2	37	CCDS10575.1																																																																																				0.562	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2		NM_016524	
TLN1	7094	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35698342	35698342	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr9:35698342G>A	ENST00000314888.9	-	55	7702	c.7349C>T	c.(7348-7350)tCg>tTg	p.S2450L	TLN1_ENST00000540444.1_Missense_Mutation_p.S2338L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2450	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.S2450L(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATTGCCTCCGAGTCCTGGTC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											87.0	66.0	73.0					9																	35698342		2203	4300	6503	SO:0001583	missense	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7349C>T	9.37:g.35698342G>A	ENSP00000316029:p.Ser2450Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524505	0.85600	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.64803	-0.12;-0.12	4.94	4.94	0.65067	I/LWEQ (4);	0.253483	0.40385	N	0.001109	D	0.85120	0.5624	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89268	0.3602	10	0.72032	D	0.01	-9.6279	18.021	0.89254	0.0:0.0:1.0:0.0	.	2450	Q9Y490	TLN1_HUMAN	L	2450;2338	ENSP00000316029:S2450L;ENSP00000442981:S2338L	ENSP00000316029:S2450L	S	-	2	0	TLN1	35688342	1.000000	0.71417	0.957000	0.39632	0.891000	0.51852	9.573000	0.98181	2.582000	0.87167	0.650000	0.86243	TCG		0.552	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2		NM_006289	
TRIOBP	11078	broad.mit.edu;hgsc.bcm.edu	37	22	38097437	38097437	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr22:38097437G>T	ENST00000406386.3	+	3	320	c.65G>T	c.(64-66)cGc>cTc	p.R22L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	22					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.R22L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCAGAACCGCTGTCAAAAC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											100.0	100.0	100.0					22																	38097437		1992	4163	6155	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.65G>T	22.37:g.38097437G>T	ENSP00000384312:p.Arg22Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582227	0.28180	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19806	2.12	5.56	0.439	0.16567	.	.	.	.	.	T	0.09686	0.0238	N	0.14661	0.345	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.36383	-0.9750	9	0.21540	T	0.41	.	4.1226	0.10112	0.2729:0.0:0.4225:0.3046	.	22	Q9H2D6	TARA_HUMAN	L	22	ENSP00000384312:R22L	ENSP00000340312:R22L	R	+	2	0	TRIOBP	36427383	0.002000	0.14202	0.004000	0.12327	0.547000	0.35210	0.276000	0.18716	0.248000	0.21435	0.650000	0.86243	CGC		0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			
TRPC1	7220	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	142509938	142509938	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr3:142509938A>T	ENST00000476941.1	+	8	1861	c.1375A>T	c.(1375-1377)Agt>Tgt	p.S459C	TRPC1_ENST00000273482.6_Missense_Mutation_p.S425C	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	459					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.S425C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TAATCAACTCAGTTTTGTCAT	0.363																																																	1	Substitution - Missense(1)	kidney(1)											128.0	135.0	133.0					3																	142509938		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1375A>T	3.37:g.142509938A>T	ENSP00000419313:p.Ser459Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365853	0.82463	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.98493	-4.96;-4.96	5.57	4.4	0.53042	Ion transport (1);	0.037607	0.85682	D	0.000000	D	0.98099	0.9373	L	0.55481	1.735	0.58432	D	0.999999	D;D;D	0.60575	0.988;0.988;0.983	P;P;P	0.61533	0.89;0.89;0.753	D	0.98166	1.0449	10	0.87932	D	0	-28.4411	12.8515	0.57860	0.8638:0.1362:0.0:0.0	.	425;459;425	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	C	459;425;26	ENSP00000419313:S459C;ENSP00000273482:S425C	ENSP00000273482:S425C	S	+	1	0	TRPC1	143992628	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.741000	0.68638	0.920000	0.36970	0.528000	0.53228	AGT		0.363	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1		NM_003304	
TSPAN19	144448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	85421761	85421761	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr12:85421761C>G	ENST00000532498.2	-	4	260	c.180G>C	c.(178-180)ttG>ttC	p.L60F	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	60						integral component of membrane (GO:0016021)		p.L60F(1)		ovary(1)	1						CCATTCCAATCAAAATTTGAG	0.299																																																	1	Substitution - Missense(1)	kidney(1)											58.0	54.0	55.0					12																	85421761		1808	4063	5871	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.180G>C	12.37:g.85421761C>G	ENSP00000433816:p.Leu60Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	C	8.794	0.931316	0.18131	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.81247	-1.47;-1.47	4.4	-2.54	0.06307	.	.	.	.	.	T	0.60209	0.2251	N	0.24115	0.695	0.09310	N	1	B	0.20052	0.041	B	0.23419	0.046	T	0.43686	-0.9376	9	0.23891	T	0.37	.	0.4793	0.00545	0.2691:0.3288:0.14:0.262	.	60	P0C672	TSN19_HUMAN	F	60	ENSP00000433816:L60F;ENSP00000446898:L60F	ENSP00000433816:L60F	L	-	3	2	TSPAN19	83945892	0.063000	0.20901	0.000000	0.03702	0.130000	0.20726	-0.042000	0.12063	-0.668000	0.05296	-0.182000	0.12963	TTG		0.299	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2		NM_001100917	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179436709	179436709	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr2:179436709G>A	ENST00000591111.1	-	276	69451	c.69227C>T	c.(69226-69228)gCc>gTc	p.A23076V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15777V|TTN_ENST00000460472.2_Missense_Mutation_p.A15652V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A24717V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A22149V|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15844V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23076	Ig-like 118.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A22149V(1)|p.A15777V(1)|p.A15844V(1)|p.A22147V(1)|p.A15652V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTTTGAAGGCTGGTGGAAT	0.468																																																	5	Substitution - Missense(5)	kidney(5)											51.0	49.0	50.0					2																	179436709		1943	4139	6082	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69227C>T	2.37:g.179436709G>A	ENSP00000465570:p.Ala23076Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	19.64	3.865811	0.71949	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	6.07	5.18	0.71444	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31358	0.0794	N	0.16233	0.39	0.48830	D	0.999712	B;B;B;B	0.18166	0.026;0.026;0.026;0.014	B;B;B;B	0.18561	0.022;0.022;0.022;0.015	T	0.08932	-1.0698	9	0.87932	D	0	.	15.767	0.78135	0.0658:0.0:0.9342:0.0	.	15652;15777;15844;23076	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	22149;15652;15844;15777;15650	ENSP00000343764:A22149V;ENSP00000434586:A15652V;ENSP00000340554:A15844V;ENSP00000352154:A15777V	ENSP00000340554:A15844V	A	-	2	0	TTN	179144955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.555000	0.67301	1.554000	0.49487	0.650000	0.86243	GCC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
WDR63	126820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	85564293	85564293	+	Silent	SNP	A	A	G	rs368650006		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr1:85564293A>G	ENST00000294664.6	+	13	1611	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G	WDR63_ENST00000370596.1_Silent_p.G438G|WDR63_ENST00000326813.8_Silent_p.G438G	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	477								p.G477G(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TAGAAAATGGACATAAGAAAG	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	106.0	105.0					1																	85564293		2203	4297	6500	SO:0001819	synonymous_variant	126820				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1431A>G	1.37:g.85564293A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	CCDS702.1																																																																																				0.348	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2		NM_145172	
ZNF594	84622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	5086795	5086795	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr17:5086795C>G	ENST00000399604.4	-	1	897	c.757G>C	c.(757-759)Gat>Cat	p.D253H	ZNF594_ENST00000575779.1_Missense_Mutation_p.D253H			Q96JF6	ZN594_HUMAN	zinc finger protein 594	253					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.D253H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATAATAAGATCTGTGCTTTGA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											112.0	117.0	115.0					17																	5086795		2172	4287	6459	SO:0001583	missense	84622			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.757G>C	17.37:g.5086795C>G	ENSP00000382513:p.Asp253His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6RFS0	Missense_Mutation	SNP	ENST00000399604.4	37	CCDS42241.1	.	.	.	.	.	.	.	.	.	.	C	7.991	0.753384	0.15778	.	.	ENSG00000180626	ENST00000399604	T	0.37411	1.2	2.4	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	N	0.02830	-0.485	0.09310	N	0.999999	B	0.29085	0.232	B	0.20955	0.032	T	0.29181	-1.0020	9	0.12103	T	0.63	.	6.754	0.23503	0.0:0.7032:0.2968:0.0	.	253	Q96JF6	ZN594_HUMAN	H	253	ENSP00000382513:D253H	ENSP00000382513:D253H	D	-	1	0	ZNF594	5027519	0.000000	0.05858	0.994000	0.49952	0.896000	0.52359	-1.933000	0.01553	0.324000	0.23333	0.449000	0.29647	GAT		0.418	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438996.1		XM_290737	
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu	37	7	127014965	127014965	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr7:127014965G>T	ENST00000393313.1	-	5	1016	c.425C>A	c.(424-426)gCa>gAa	p.A142E	ZNF800_ENST00000393312.1_Missense_Mutation_p.A142E|ZNF800_ENST00000265827.3_Missense_Mutation_p.A142E|ZNF800_ENST00000485577.1_5'Flank			Q2TB10	ZN800_HUMAN	zinc finger protein 800	142					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.A142E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTGAAATACTGCATTTTGATT	0.368																																																	2	Substitution - Missense(2)	kidney(2)											105.0	103.0	103.0					7																	127014965		2203	4300	6503	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.425C>A	7.37:g.127014965G>T	ENSP00000376989:p.Ala142Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492071	0.64074	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.65549	1.31;1.31;1.31;-0.16	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	L	0.34521	1.04	0.34832	D	0.739814	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.74222	-0.3735	9	0.72032	D	0.01	-4.4082	18.7799	0.91928	0.0:0.0:1.0:0.0	.	45;142	B7Z4V7;Q2TB10	.;ZN800_HUMAN	E	142	ENSP00000376989:A142E;ENSP00000265827:A142E;ENSP00000376988:A142E;ENSP00000403945:A142E	ENSP00000265827:A142E	A	-	2	0	ZNF800	126802201	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.816000	0.91979	2.685000	0.91497	0.650000	0.86243	GCA		0.368	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814	
ZNF99	7652	hgsc.bcm.edu	37	19	22939560	22939560	+	IGR	SNP	T	T	G			TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:22939560T>G	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.N871H	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTTGAGGAATTGTTAAAAGCT	0.358																																																	0													37.0	50.0	46.0					19																	22939560		1946	4219	6165	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939560T>G		Somatic		WXS	Illumina HiSeq	Phase_I	M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	0.004	-2.261364	0.00262	.	.	ENSG00000213973	ENST00000397104	T	0.19250	2.16	1.32	-2.64	0.06114	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.31138	-0.9954	8	0.15952	T	0.53	.	0.921	0.01315	0.4438:0.159:0.2382:0.159	.	871	A8MXY4	ZNF99_HUMAN	H	871	ENSP00000380293:N871H	ENSP00000380293:N871H	N	-	1	0	ZNF99	22731400	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.413000	0.00021	-2.655000	0.00422	-1.656000	0.00753	AAT		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124	
ZNF99	7652	hgsc.bcm.edu	37	19	22939564	22939564	+	IGR	SNP	A	A	G	rs75352526		TCGA-CJ-4901-01A-01D-1429-08	TCGA-CJ-4901-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a8f3ff-0514-4bca-be75-16ad58eb9e72	4f61a793-26fd-43ec-92cf-91ba74757d00	g.chr19:22939564A>G	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.F869F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGAATTGTTAAAAGCTTTGC	0.363																																																	0													37.0	49.0	45.0					19																	22939564		1957	4222	6179	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939564A>G		Somatic		WXS	Illumina HiSeq	Phase_I	M0R335	Silent	SNP	ENST00000596209.1	37	CCDS59369.1																																																																																				0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1		XM_065124	
