#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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACAP1	9744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7246741	7246741	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr17:7246741G>A	ENST00000158762.3	+	6	594	c.388G>A	c.(388-390)Ggg>Agg	p.G130R	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	130	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G130R(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TTTCTGGCGGGGGGCTGAGAG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											40.0	50.0	46.0					17																	7246741		2200	4299	6499	SO:0001583	missense	9744			D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.388G>A	17.37:g.7246741G>A	ENSP00000158762:p.Gly130Arg		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195775	0.58126	.	.	ENSG00000072818	ENST00000158762	T	0.03831	3.79	5.24	5.24	0.73138	Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.164239	0.53938	D	0.000053	T	0.07188	0.0182	L	0.47716	1.5	0.80722	D	1	B	0.22851	0.076	B	0.19148	0.024	T	0.14811	-1.0459	10	0.56958	D	0.05	.	16.6685	0.85259	0.0:0.0:1.0:0.0	.	130	Q15027	ACAP1_HUMAN	R	130	ENSP00000158762:G130R	ENSP00000158762:G130R	G	+	1	0	ACAP1	7187465	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.895000	0.56258	2.618000	0.88619	0.462000	0.41574	GGG		0.647	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4		NM_014716	
ACACA	31	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	35600351	35600351	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr17:35600351T>C	ENST00000394406.2	-	22	2946	c.2756A>G	c.(2755-2757)aAg>aGg	p.K919R	ACACA_ENST00000335166.5_Missense_Mutation_p.K841R|ACACA_ENST00000360679.3_Missense_Mutation_p.K861R|ACACA_ENST00000353139.5_Missense_Mutation_p.K956R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	919					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.K956R(1)|p.K861R(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CATTTCCTTCTTGATAGACTT	0.448																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												2	Substitution - Missense(2)	kidney(2)											218.0	207.0	211.0					17																	35600351		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2756A>G	17.37:g.35600351T>C	ENSP00000377928:p.Lys919Arg		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	6.454	0.451985	0.12283	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.6	4.6	0.57074	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	N	0.00465	-1.465	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.15052	0.012;0.002;0.001	T	0.36456	-0.9747	10	0.02654	T	1	-19.7424	13.6083	0.62061	0.0:0.0:0.0:1.0	.	956;919;861	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	R	956;861;919;943;841	ENSP00000344789:K956R;ENSP00000353898:K861R;ENSP00000377928:K919R;ENSP00000335323:K841R	ENSP00000335323:K841R	K	-	2	0	ACACA	32674464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.340000	0.52143	2.063000	0.61619	0.460000	0.39030	AAG		0.448	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1		NM_198836	
ACTRT2	140625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	2938986	2938986	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:2938986G>A	ENST00000378404.2	+	1	941	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	246						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D246N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CAAGCTGCCCGACGGGAACAT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											36.0	41.0	39.0					1																	2938986		2203	4299	6502	SO:0001583	missense	140625			AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.736G>A	1.37:g.2938986G>A	ENSP00000367658:p.Asp246Asn		B1AN52|Q8NHS6|Q8TDG1	Missense_Mutation	SNP	ENST00000378404.2	37	CCDS45.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503434	0.64298	.	.	ENSG00000169717	ENST00000378404;ENST00000543312	D	0.97772	-4.53	4.85	3.92	0.45320	.	0.096799	0.41938	D	0.000787	D	0.95806	0.8635	M	0.64997	1.995	0.54753	D	0.999986	P	0.44309	0.832	B	0.39590	0.304	D	0.95707	0.8754	10	0.87932	D	0	.	11.2525	0.49034	0.0903:0.0:0.9097:0.0	.	246	Q8TDY3	ACTT2_HUMAN	N	246	ENSP00000367658:D246N	ENSP00000367658:D246N	D	+	1	0	ACTRT2	2928846	1.000000	0.71417	0.921000	0.36526	0.458000	0.32498	7.831000	0.86748	2.228000	0.72767	0.561000	0.74099	GAC		0.652	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1		NM_080431	
ASTN2	23245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	119976970	119976970	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr9:119976970A>G	ENST00000313400.4	-	3	782	c.682T>C	c.(682-684)Tac>Cac	p.Y228H	ASTN2_ENST00000373996.3_Missense_Mutation_p.Y228H|ASTN2_ENST00000361209.2_Missense_Mutation_p.Y228H|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	228					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.Y228H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCTGGGCGTACAGCGCCACG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											43.0	42.0	43.0					9																	119976970		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.682T>C	9.37:g.119976970A>G	ENSP00000314038:p.Tyr228His		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	A	17.94	3.510635	0.64522	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.15017	2.56;2.56;2.46	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000004	T	0.27933	0.0688	N	0.24115	0.695	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.992	T	0.04017	-1.0984	9	.	.	.	-12.2761	15.3087	0.74014	1.0:0.0:0.0:0.0	.	228;228;228	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	H	228	ENSP00000314038:Y228H;ENSP00000363108:Y228H;ENSP00000354504:Y228H	.	Y	-	1	0	ASTN2	119016791	1.000000	0.71417	0.694000	0.30210	0.615000	0.37417	9.296000	0.96104	2.101000	0.63845	0.533000	0.62120	TAC		0.602	ASTN2-201	KNOWN	basic	protein_coding	protein_coding			NM_014010	
BIN2	51411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51696509	51696509	+	Silent	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:51696509G>A	ENST00000267012.4	-	4	334	c.273C>T	c.(271-273)agC>agT	p.S91S	BIN2_ENST00000604560.1_Silent_p.S64S|BIN2_ENST00000452142.2_Silent_p.S91S|BIN2_ENST00000544402.1_Silent_p.S65S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	91	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.S91S(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CGTCCCACTCGCTGCTGTAGA	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											226.0	208.0	215.0					12																	51696509		2203	4300	6503	SO:0001819	synonymous_variant	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.273C>T	12.37:g.51696509G>A			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	ENST00000267012.4	37	CCDS8811.1																																																																																				0.468	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			
BTG2	7832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203276485	203276485	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:203276485T>A	ENST00000290551.4	+	2	467	c.396T>A	c.(394-396)tgT>tgA	p.C132*	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	132					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.C132*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCCTCCTGTGGGCTCCTCA	0.652																																																	1	Substitution - Nonsense(1)	kidney(1)											43.0	46.0	45.0					1																	203276485		2203	4300	6503	SO:0001587	stop_gained	7832				CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.396T>A	1.37:g.203276485T>A	ENSP00000290551:p.Cys132*		A0A024R986|Q3KR25|Q5VUT0	Nonsense_Mutation	SNP	ENST00000290551.4	37	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285898	0.59867	.	.	ENSG00000159388	ENST00000290551	.	.	.	5.06	-7.3	0.01446	.	0.551776	0.17870	N	0.159210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-11.903	10.9392	0.47264	0.1051:0.5539:0.0:0.3409	.	.	.	.	X	132	.	ENSP00000290551:C132X	C	+	3	2	BTG2	201543108	0.005000	0.15991	0.409000	0.26459	0.525000	0.34531	-0.613000	0.05610	-1.495000	0.01831	0.260000	0.18958	TGT		0.652	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763	
TRMT44	152992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8469669	8469669	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:8469669A>G	ENST00000389737.4	+	9	1523	c.1523A>G	c.(1522-1524)tAc>tGc	p.Y508C	TRMT44_ENST00000513449.2_Missense_Mutation_p.Y267C	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	508					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Y508C(1)|p.Y116C(1)									TCCAGAACATACCCTTCCTCC	0.493																																																	2	Substitution - Missense(2)	kidney(2)											54.0	62.0	59.0					4																	8469669		2203	4300	6503	SO:0001583	missense	0			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1523A>G	4.37:g.8469669A>G	ENSP00000374387:p.Tyr508Cys		Q8NA95	Missense_Mutation	SNP	ENST00000389737.4	37	CCDS3402.2	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926061	0.52759	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	T;T	0.46819	0.86;0.86	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.81497	2.545	0.54753	D	0.999984	D;D	0.89917	0.999;1.0	D;D	0.80764	0.96;0.994	T	0.74331	-0.3700	10	0.87932	D	0	-29.7774	13.7575	0.62946	1.0:0.0:0.0:0.0	.	508;267	Q8IYL2;Q8IYL2-2	TRM44_HUMAN;.	C	267;508;116	ENSP00000424643:Y267C;ENSP00000374387:Y508C	ENSP00000285635:Y116C	Y	+	2	0	METTL19	8520569	1.000000	0.71417	0.875000	0.34327	0.242000	0.25591	6.294000	0.72738	2.183000	0.69458	0.533000	0.62120	TAC		0.493	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2		NM_152544	
CAND1	55832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	67698394	67698394	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:67698394A>G	ENST00000545606.1	+	9	1740	c.1303A>G	c.(1303-1305)Att>Gtt	p.I435V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	435					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.I435V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGTTCCCAACATTGTTAAAGC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											102.0	100.0	101.0					12																	67698394		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1303A>G	12.37:g.67698394A>G	ENSP00000442318:p.Ile435Val		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	A	8.389	0.839205	0.16891	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000540047;ENST00000544619	T;T	0.67523	-0.27;-0.27	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61160	0.2325	L	0.46567	1.45	0.80722	D	1	B;B	0.20671	0.047;0.009	B;B	0.19391	0.025;0.007	T	0.55976	-0.8055	9	.	.	.	-17.0821	16.4052	0.83662	1.0:0.0:0.0:0.0	.	435;435	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	435;435;277;143	ENSP00000442318:I435V;ENSP00000444089:I143V	.	I	+	1	0	CAND1	65984661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.307000	0.96226	2.279000	0.76181	0.402000	0.26972	ATT		0.378	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		NM_018448	
CATSPER4	378807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26517881	26517881	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:26517881C>T	ENST00000456354.2	+	2	384	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	106					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.A106V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GTGATCAATGCCATCACCATC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											97.0	78.0	85.0					1																	26517881		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.317C>T	1.37:g.26517881C>T	ENSP00000390423:p.Ala106Val		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538799	0.85917	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97256	-4.31;-4.31	5.68	4.76	0.60689	.	0.120710	0.37136	N	0.002225	D	0.97235	0.9096	L	0.54323	1.7	0.32784	N	0.502106	D	0.76494	0.999	P	0.61800	0.894	D	0.99016	1.0816	10	0.72032	D	0.01	-11.8127	12.2967	0.54852	0.0:0.8114:0.1886:0.0	.	106	Q7RTX7	CTSR4_HUMAN	V	106	ENSP00000341006:A106V;ENSP00000390423:A106V	ENSP00000341006:A106V	A	+	2	0	CATSPER4	26390468	0.993000	0.37304	0.989000	0.46669	0.883000	0.51084	1.947000	0.40293	1.372000	0.46190	0.462000	0.41574	GCC		0.592	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2		NM_198137	
CCDC87	55231	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66359599	66359599	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr11:66359599C>A	ENST00000333861.3	-	1	955	c.888G>T	c.(886-888)agG>agT	p.R296S	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	296					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)			p.R296S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGGGGAAGCCCTGCTGGTGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											47.0	51.0	50.0					11																	66359599		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.888G>T	11.37:g.66359599C>A	ENSP00000328487:p.Arg296Ser		Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	1.095	-0.662766	0.03454	.	.	ENSG00000182791	ENST00000333861	T	0.32753	1.44	4.82	-1.51	0.08664	.	1.974720	0.02582	N	0.098999	T	0.14227	0.0344	N	0.08118	0	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.13872	-1.0493	10	0.12103	T	0.63	.	4.7633	0.13118	0.0:0.3732:0.1619:0.4649	.	296	Q9NVE4	CCD87_HUMAN	S	296	ENSP00000328487:R296S	ENSP00000328487:R296S	R	-	3	2	CCDC87	66116175	0.000000	0.05858	0.000000	0.03702	0.102000	0.19082	-0.316000	0.08071	-0.145000	0.11294	0.514000	0.50259	AGG		0.612	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1		NM_018219	
CIT	11113	hgsc.bcm.edu;ucsc.edu	37	12	120173115	120173115	+	Missense_Mutation	SNP	G	G	T	rs79892909	byFrequency	TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:120173115G>T	ENST00000261833.7	-	24	2932	c.2880C>A	c.(2878-2880)aaC>aaA	p.N960K	CIT_ENST00000392521.2_Missense_Mutation_p.N1002K|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	960					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.N1002K(1)|p.N960K(1)|p.N1003K(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGTTCAGCGTTGTCCTCGG	0.468																																																	3	Substitution - Missense(3)	kidney(3)											260.0	230.0	241.0					12																	120173115		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.2880C>A	12.37:g.120173115G>T	ENSP00000261833:p.Asn960Lys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.45|14.45	2.539937|2.539937	0.45176|0.45176	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.63913|.	-0.06;-0.07|.	5.06|5.06	-6.0|-6.0	0.02206|0.02206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48960|0.48960	0.1529|0.1529	L|L	0.27053|0.27053	0.805|0.805	0.40763|0.40763	D|D	0.983028|0.983028	D;D;D|.	0.89917|.	1.0;0.997;0.998|.	D;D;D|.	0.85130|.	0.997;0.989;0.995|.	T|T	0.46345|0.46345	-0.9198|-0.9198	10|5	0.15066|.	T|.	0.55|.	.|.	17.7102|17.7102	0.88319|0.88319	0.7088:0.0:0.2912:0.0|0.7088:0.0:0.2912:0.0	.|.	1002;960;493|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	K|K	1002;960|588	ENSP00000376306:N1002K;ENSP00000261833:N960K|.	ENSP00000261833:N960K|.	N|T	-|-	3|2	2|0	CIT|CIT	118657498|118657498	0.001000|0.001000	0.12720|0.12720	0.777000|0.777000	0.31699|0.31699	0.684000|0.684000	0.39900|0.39900	-1.312000|-1.312000	0.02720|0.02720	-1.344000|-1.344000	0.02216|0.02216	-2.136000|-2.136000	0.00340|0.00340	AAC|ACG		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174	
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130283940	130283940	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr3:130283940G>T	ENST00000358511.6	+	3	795	c.764G>T	c.(763-765)aGt>aTt	p.S255I	COL6A6_ENST00000453409.2_Missense_Mutation_p.S255I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	255	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S255I(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGGAAGAAAGTGTATCTGCC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											143.0	141.0	141.0					3																	130283940		1894	4121	6015	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.764G>T	3.37:g.130283940G>T	ENSP00000351310:p.Ser255Ile		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	2.163	-0.391613	0.04932	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.74315	-0.83;-0.83	5.09	4.15	0.48705	von Willebrand factor, type A (3);	0.086233	0.50627	D	0.000106	T	0.37999	0.1024	N	0.00996	-1.065	0.09310	N	1	B	0.26775	0.159	B	0.28638	0.092	T	0.44421	-0.9329	10	0.05351	T	0.99	.	7.8429	0.29408	0.0:0.2393:0.5047:0.2559	.	255	A6NMZ7	CO6A6_HUMAN	I	255	ENSP00000351310:S255I;ENSP00000399236:S255I	ENSP00000351310:S255I	S	+	2	0	COL6A6	131766630	0.046000	0.20272	0.922000	0.36590	0.976000	0.68499	2.525000	0.45598	2.538000	0.85594	0.561000	0.74099	AGT		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
ARFGEF1	10565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68107615	68107615	+	IGR	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr8:68107615A>G	ENST00000262215.3	-	0	7225				ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_Splice_Site|CSPP1_ENST00000262210.5_Splice_Site|CSPP1_ENST00000412460.1_Splice_Site	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)	p.?(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCTCCTGTAGATGATGAGA	0.522																																																	1	Unknown(1)	kidney(1)											260.0	253.0	256.0					8																	68107615		2114	4232	6346	SO:0001628	intergenic_variant	79848			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626		8.37:g.68107615A>G			Q9NV46|Q9UFV2|Q9UNL0	Splice_Site	SNP	ENST00000262215.3	37	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724248	0.68959	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8054	0.69952	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSPP1	68270169	0.997000	0.39634	0.811000	0.32455	0.936000	0.57629	4.096000	0.57734	2.218000	0.71995	0.528000	0.53228	.		0.522	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4		NM_006421	
CYP19A1	1588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	51520122	51520122	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr15:51520122C>G	ENST00000396402.1	-	4	458	c.305G>C	c.(304-306)aGt>aCt	p.S102T	CYP19A1_ENST00000260433.2_Missense_Mutation_p.S102T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S102T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S102T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S102T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S102T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	102					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.S102T(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GTGGAACATACTTGAGGACCT	0.428																																					Melanoma(142;1016 1807 39614 48966 51721)												1	Substitution - Missense(1)	kidney(1)											109.0	92.0	98.0					15																	51520122		2196	4293	6489	SO:0001583	missense	1588			D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.305G>C	15.37:g.51520122C>G	ENSP00000379683:p.Ser102Thr		Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742788	0.69418	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.81	4.89	0.63831	.	0.092688	0.85682	D	0.000000	T	0.78020	0.4218	L	0.55481	1.735	0.45129	D	0.998147	D;B	0.71674	0.998;0.012	D;B	0.79784	0.993;0.022	T	0.79339	-0.1844	10	0.54805	T	0.06	-9.1297	15.3069	0.73998	0.0:0.7351:0.2649:0.0	.	102;102	Q8IYJ7;P11511	.;CP19A_HUMAN	T	102	ENSP00000379683:S102T;ENSP00000260433:S102T;ENSP00000379685:S102T;ENSP00000390614:S102T;ENSP00000383930:S102T;ENSP00000391139:S102T;ENSP00000384389:S102T	ENSP00000260433:S102T	S	-	2	0	CYP19A1	49307414	0.991000	0.36638	0.327000	0.25402	0.954000	0.61252	3.281000	0.51685	1.447000	0.47661	0.655000	0.94253	AGT		0.428	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			
DNAJC30	84277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73097664	73097664	+	Silent	SNP	G	G	A	rs369098122		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr7:73097664G>A	ENST00000395176.2	-	1	119	c.90C>T	c.(88-90)agC>agT	p.S30S	WBSCR22_ENST00000423166.2_5'Flank|WBSCR22_ENST00000265758.2_5'Flank|WBSCR22_ENST00000464615.1_3'UTR|WBSCR22_ENST00000423497.1_5'Flank	NM_032317.2	NP_115693.2	Q96LL9	DJC30_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 30	30						mitochondrion (GO:0005739)		p.S30S(1)		kidney(1)|large_intestine(2)|lung(1)	4						CTAGGCCCAGGCTGGGTGCAG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)						G		0,4376		0,0,2188	56.0	66.0	63.0		90	-0.3	0.0	7		63	2,8566		0,2,4282	no	coding-synonymous	DNAJC30	NM_032317.2		0,2,6470	AA,AG,GG		0.0233,0.0,0.0155		30/227	73097664	2,12942	2188	4284	6472	SO:0001819	synonymous_variant	84277			AF412025	CCDS5556.1	7q11.23	2011-09-02	2008-06-17	2008-06-17	ENSG00000176410	ENSG00000176410		"""Heat shock proteins / DNAJ (HSP40)"""	16410	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 18"""	WBSCR18		12073013	Standard	NM_032317		Approved		uc003tys.1	Q96LL9	OTTHUMG00000023290	ENST00000395176.2:c.90C>T	7.37:g.73097664G>A			Q9BSG8	Silent	SNP	ENST00000395176.2	37	CCDS5556.1																																																																																				0.617	DNAJC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252304.2			
EPM2AIP1	9852	hgsc.bcm.edu	37	3	37032775	37032775	+	Silent	SNP	A	A	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr3:37032775A>T	ENST00000322716.5	-	1	2020	c.1794T>A	c.(1792-1794)ctT>ctA	p.L598L	MLH1_ENST00000231790.2_5'Flank|MLH1_ENST00000458205.2_5'Flank|MLH1_ENST00000539477.1_5'Flank|MLH1_ENST00000435176.1_5'Flank|MLH1_ENST00000455445.2_5'Flank|MLH1_ENST00000536378.1_5'Flank	NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	598					positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TTTCTCTCACAAGGTCATCCC	0.393																																																	0													86.0	85.0	86.0					3																	37032775		1843	4087	5930	SO:0001819	synonymous_variant	9852			AB018309	CCDS46790.1	3p22.1	2003-03-26							19735	protein-coding gene	gene with protein product		607911					Standard	NM_014805		Approved	KIAA0766, FLJ11207	uc003cgk.3	Q7L775		ENST00000322716.5:c.1794T>A	3.37:g.37032775A>T			O94866|Q9H3L3	Silent	SNP	ENST00000322716.5	37	CCDS46790.1																																																																																				0.393	EPM2AIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470593.1		NM_014805	
FBXO2	26232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	11709907	11709907	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:11709907A>C	ENST00000354287.4	-	4	887	c.546T>G	c.(544-546)atT>atG	p.I182M	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	182	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)	p.I182M(1)		kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGGTCAATGACCTGTG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											100.0	93.0	95.0					1																	11709907		2203	4300	6503	SO:0001583	missense	26232			AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.546T>G	1.37:g.11709907A>C	ENSP00000346240:p.Ile182Met		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	ENST00000354287.4	37	CCDS130.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168775	0.57584	.	.	ENSG00000116661	ENST00000354287	T	0.35236	1.32	4.87	-0.575	0.11734	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.336821	0.34156	N	0.004209	T	0.53834	0.1821	M	0.85945	2.785	0.39380	D	0.96624	D	0.54601	0.967	D	0.69479	0.964	T	0.52653	-0.8547	10	0.87932	D	0	.	4.7051	0.12846	0.521:0.3112:0.1678:0.0	.	182	Q9UK22	FBX2_HUMAN	M	182	ENSP00000346240:I182M	ENSP00000346240:I182M	I	-	3	3	FBXO2	11632494	0.007000	0.16637	0.541000	0.28102	0.516000	0.34256	-1.027000	0.03592	-0.295000	0.08960	0.459000	0.35465	ATT		0.617	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005764.1		NM_012168	
FOXRED2	80020	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	36900193	36900193	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr22:36900193C>T	ENST00000397224.4	-	4	1094	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	FOXRED2_ENST00000216187.6_Missense_Mutation_p.R334Q|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R334Q	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	334					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)	p.R334Q(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCGGATTACCCGGTCATAGGG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											72.0	68.0	69.0					22																	36900193		2203	4300	6503	SO:0001583	missense	80020			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1001G>A	22.37:g.36900193C>T	ENSP00000380401:p.Arg334Gln		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295705	0.95574	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.15952	2.38;2.38;2.38	5.01	5.01	0.66863	.	0.118592	0.64402	D	0.000015	T	0.35653	0.0939	M	0.87900	2.915	0.80722	D	1	D	0.63880	0.993	P	0.47981	0.563	T	0.42582	-0.9443	10	0.45353	T	0.12	-31.5448	18.5148	0.90931	0.0:1.0:0.0:0.0	.	334	Q8IWF2	FXRD2_HUMAN	Q	334	ENSP00000380401:R334Q;ENSP00000216187:R334Q;ENSP00000380400:R334Q	ENSP00000216187:R334Q	R	-	2	0	FOXRED2	35230139	1.000000	0.71417	0.990000	0.47175	0.925000	0.55904	6.768000	0.74980	2.606000	0.88127	0.655000	0.94253	CGG		0.547	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2		NM_024955	
GABRG1	2565	hgsc.bcm.edu	37	4	46043264	46043264	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:46043264G>T	ENST00000295452.4	-	9	1306	c.1139C>A	c.(1138-1140)cCt>cAt	p.P380H		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	380					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.P380H(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGAGACCAGGAGTCATCTG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											48.0	51.0	50.0					4																	46043264		2203	4298	6501	SO:0001583	missense	2565			BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1139C>A	4.37:g.46043264G>T	ENSP00000295452:p.Pro380His		Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411043	0.25465	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83914	-1.78	5.22	5.22	0.72569	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.115560	0.06533	N	0.741741	D	0.83133	0.5188	L	0.34521	1.04	0.21105	N	0.99979	P	0.42556	0.783	P	0.49637	0.617	T	0.71755	-0.4497	10	0.46703	T	0.11	.	10.9256	0.47189	0.0867:0.0:0.9133:0.0	.	380	Q8N1C3	GBRG1_HUMAN	H	380	ENSP00000295452:P380H	ENSP00000295452:P380H	P	-	2	0	GABRG1	45738021	0.744000	0.28250	0.288000	0.24862	0.005000	0.04900	3.389000	0.52516	2.436000	0.82500	0.585000	0.79938	CCT		0.393	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1		NM_173536	
FRAS1	80144	broad.mit.edu;hgsc.bcm.edu	37	4	79296891	79296891	+	Splice_Site	SNP	A	A	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:79296891A>T	ENST00000325942.6	+	26	3591		c.e26-1		FRAS1_ENST00000264895.6_Splice_Site	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.?(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTTTTTTAATAGCCTGCCCTC	0.483																																																	3	Unknown(3)	kidney(3)											68.0	62.0	64.0					4																	79296891		1933	4140	6073	SO:0001630	splice_region_variant	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3152-1A>T	4.37:g.79296891A>T			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000325942.6	37	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.867306	0.32977	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8707	0.63617	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79515915	1.000000	0.71417	0.946000	0.38457	0.018000	0.09664	6.781000	0.75068	1.964000	0.57103	0.460000	0.39030	.		0.483	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			Intron
HDAC10	83933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50685358	50685358	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr22:50685358G>A	ENST00000216271.5	-	15	1812	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Missense_Mutation_p.A467V|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A437V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	487					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)	p.A487V(1)		endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGCTGCTGCAGCAGAGGC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											35.0	33.0	34.0					22																	50685358		2203	4300	6503	SO:0001583	missense	83933			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1460C>T	22.37:g.50685358G>A	ENSP00000216271:p.Ala487Val		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	ENST00000216271.5	37	CCDS14088.1	.	.	.	.	.	.	.	.	.	.	G	3.117	-0.181450	0.06340	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.31510	1.49;1.49;1.49	5.18	-7.98	0.01135	.	1.125660	0.06460	N	0.729282	T	0.14917	0.0360	N	0.21448	0.665	0.09310	N	0.999998	B;B;B;B	0.15141	0.002;0.001;0.012;0.001	B;B;B;B	0.14023	0.004;0.002;0.01;0.002	T	0.25222	-1.0138	10	0.30854	T	0.27	3.6715	4.7883	0.13236	0.6162:0.1084:0.1658:0.1096	.	467;437;487;487	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	487;437;467	ENSP00000216271:A487V;ENSP00000397542:A437V;ENSP00000343540:A467V	ENSP00000216271:A487V	A	-	2	0	HDAC10	49027485	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.693000	0.05121	-1.089000	0.03073	-0.150000	0.13652	GCA		0.577	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4		NM_032019	
HRNR	388697	broad.mit.edu;hgsc.bcm.edu	37	1	152185823	152185823	+	Missense_Mutation	SNP	C	C	A	rs41266120|rs71585888	byFrequency	TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:152185823C>A	ENST00000368801.2	-	3	8357	c.8282G>T	c.(8281-8283)cGa>cTa	p.R2761L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2761					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R2761L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCATGTCGGCCATAGCC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											51.0	33.0	40.0					1																	152185823		1950	3088	5038	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8282G>T	1.37:g.152185823C>A	ENSP00000357791:p.Arg2761Leu		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	c	6.929	0.541107	0.13250	.	.	ENSG00000197915	ENST00000368801	T	0.01767	4.65	3.92	-0.629	0.11533	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	P	0.35242	0.492	B	0.25987	0.065	T	0.40365	-0.9567	9	0.24483	T	0.36	.	5.9811	0.19407	0.1297:0.157:0.0:0.7133	.	2761	Q86YZ3	HORN_HUMAN	L	2761	ENSP00000357791:R2761L	ENSP00000357791:R2761L	R	-	2	0	HRNR	150452447	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.025000	0.12413	-0.544000	0.06232	-1.978000	0.00458	CGA		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1		XM_373868	
IGF1R	3480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99482525	99482525	+	Silent	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr15:99482525C>T	ENST00000268035.6	+	18	4004	c.3393C>T	c.(3391-3393)ttC>ttT	p.F1131F	IGF1R_ENST00000558762.1_Silent_p.F1130F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.F1131F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAATAAGTTCGTCCACAGAG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											166.0	154.0	158.0					15																	99482525		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3393C>T	15.37:g.99482525C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	CCDS10378.1																																																																																				0.502	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875	
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53253992	53253992	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chrX:53253992delG	ENST00000375401.3	-	1	612	c.80delC	c.(79-81)cctfs	p.P27fs	KDM5C_ENST00000452825.3_Frame_Shift_Del_p.P27fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.P27fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.P27fs|KDM5C_ENST00000404049.3_Frame_Shift_Del_p.P27fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	27	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTAGCCAAGAGGGTCTCGGAA	0.667			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													46.0	40.0	42.0					X																	53253992		2203	4300	6503	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.80delC	X.37:g.53253992delG	ENSP00000364550:p.Pro27fs		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.667	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KRI1	65095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10668296	10668296	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr19:10668296C>G	ENST00000312962.6	-	16	1586	c.1567G>C	c.(1567-1569)Gac>Cac	p.D523H	KRI1_ENST00000361821.5_Missense_Mutation_p.D519H	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	517						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.D523H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCAGGTCGTCGATGATGTCC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											207.0	157.0	174.0					19																	10668296		2203	4300	6503	SO:0001583	missense	65095				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1567G>C	19.37:g.10668296C>G	ENSP00000320917:p.Asp523His		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211287	0.79240	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000539027	T;T;T	0.47869	3.13;2.96;0.83	5.22	5.22	0.72569	Kri1-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69495	0.3117	M	0.73962	2.25	0.50467	D	0.999879	D;D	0.89917	1.0;1.0	D;D	0.80764	0.991;0.994	T	0.73241	-0.4045	10	0.72032	D	0.01	-41.7843	17.5243	0.87795	0.0:1.0:0.0:0.0	.	523;519	Q8N9T8;D3YTE0	KRI1_HUMAN;.	H	523;519;172	ENSP00000320917:D523H;ENSP00000355366:D519H;ENSP00000445789:D172H	ENSP00000320917:D523H	D	-	1	0	KRI1	10529296	1.000000	0.71417	0.536000	0.28039	0.888000	0.51559	6.343000	0.72986	2.436000	0.82500	0.563000	0.77884	GAC		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008	
LAMB1	3912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	107564469	107564469	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr7:107564469C>G	ENST00000222399.6	-	34	5518	c.5288G>C	c.(5287-5289)aGa>aCa	p.R1763T	LAMB1_ENST00000393561.1_Missense_Mutation_p.R1787T	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1763	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.R1763T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TCCTTCCAGTCTTGCTAATTC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											145.0	138.0	140.0					7																	107564469		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.5288G>C	7.37:g.107564469C>G	ENSP00000222399:p.Arg1763Thr		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	C	7.867	0.727243	0.15439	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	D;D	0.94417	-3.42;-3.42	5.53	4.64	0.57946	.	.	.	.	.	D	0.85314	0.5668	N	0.08118	0	0.20403	N	0.99991	B;B;B	0.24426	0.002;0.103;0.037	B;B;B	0.26094	0.004;0.066;0.024	T	0.72643	-0.4231	9	0.15066	T	0.55	.	6.9124	0.24342	0.0:0.7551:0.0:0.2449	.	1763;1787;1060	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	T	1787;1763	ENSP00000377191:R1787T;ENSP00000222399:R1763T	ENSP00000222399:R1763T	R	-	2	0	LAMB1	107351705	0.936000	0.31750	0.616000	0.29078	0.833000	0.47200	2.511000	0.45476	2.755000	0.94549	0.650000	0.86243	AGA		0.353	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1		NM_002291	
Unknown	0	broad.mit.edu	37	6	28185356	28185356	+	IGR	DEL	G	G	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr6:28185356delG								ZNF192P1 (47984 upstream) : ZSCAN9 (7685 downstream)																							ttttttttttggcctttcctt	0.433																																																	0																																										SO:0001628	intergenic_variant	0																															6.37:g.28185356delG				RNA	DEL		37																																																																																				0	0.433									
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	C	T	rs200758966		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr10:42832122C>T	ENST00000609841.1	-	0	1781					NR_024380.1																						CAGTAAAAGGCTTTGCCACAT	0.348																																																	0																																												441666																															10.37:g.42832122C>T				RNA	SNP	ENST00000609841.1	37																																																																																					0.348	RP11-313J2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472483.1			
MARS	4141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57908819	57908819	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr12:57908819A>G	ENST00000262027.5	+	17	2316	c.2182A>G	c.(2182-2184)Att>Gtt	p.I728V	RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.I494V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	728					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.I728V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGAAGCGGATTAAAGGCAG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											72.0	66.0	68.0					12																	57908819		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2182A>G	12.37:g.57908819A>G	ENSP00000262027:p.Ile728Val		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597541	0.28445	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.44083	0.93;0.93	5.32	4.18	0.49190	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.051796	0.64402	D	0.000001	T	0.26268	0.0641	N	0.20610	0.595	0.58432	D	0.999993	B;B	0.21520	0.021;0.057	B;B	0.24006	0.007;0.05	T	0.07177	-1.0786	10	0.22706	T	0.39	-13.4297	9.9731	0.41765	0.9181:0.0:0.0819:0.0	.	494;728	A6NC17;P56192	.;SYMC_HUMAN	V	728;494	ENSP00000262027:I728V;ENSP00000314653:I494V	ENSP00000262027:I728V	I	+	1	0	MARS	56195086	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.424000	0.73366	2.140000	0.66376	0.482000	0.46254	ATT		0.517	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1		NM_004990	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9069219	9069219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr19:9069219G>A	ENST00000397910.4	-	3	18430	c.18227C>T	c.(18226-18228)cCt>cTt	p.P6076L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6078	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P6076L(2)|p.P1709L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTCAGTTCAGGAGTCAGAGG	0.483																																																	3	Substitution - Missense(3)	kidney(3)											83.0	90.0	88.0					19																	9069219		2135	4242	6377	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18227C>T	19.37:g.9069219G>A	ENSP00000381008:p.Pro6076Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.974	-0.211791	0.06140	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	1.11	1.11	0.20524	.	.	.	.	.	T	0.05914	0.0154	L	0.40543	1.245	.	.	.	D	0.59357	0.985	P	0.51974	0.686	T	0.28618	-1.0038	8	0.87932	D	0	.	5.6291	0.17499	0.0:0.0:1.0:0.0	.	6076	B5ME49	.	L	6076	ENSP00000381008:P6076L	ENSP00000381008:P6076L	P	-	2	0	MUC16	8930219	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.326000	0.19646	0.920000	0.36970	0.163000	0.16589	CCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NIT1	4817	hgsc.bcm.edu;ucsc.edu	37	1	161089670	161089683	+	Frame_Shift_Del	DEL	GCCTATGTGTGAAA	GCCTATGTGTGAAA	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	GCCTATGTGTGAAA	GCCTATGTGTGAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:161089670_161089683delGCCTATGTGTGAAA	ENST00000368009.2	+	5	595_608	c.519_532delGCCTATGTGTGAAA	c.(517-534)gggcctatgtgtgaaagcfs	p.PMCES174fs	DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000368008.1_Frame_Shift_Del_p.PMCES174fs|NIT1_ENST00000392190.5_Frame_Shift_Del_p.PMCES138fs|NIT1_ENST00000496861.1_3'UTR|PFDN2_ENST00000368010.3_5'Flank|PFDN2_ENST00000468311.1_5'Flank|NIT1_ENST00000368007.4_Frame_Shift_Del_p.PMCES159fs	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	174	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGGGCAGGGGCCTATGTGTGAAAGCAACTCTAC	0.514											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	4817			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.519_532delGCCTATGTGTGAAA	1.37:g.161089670_161089683delGCCTATGTGTGAAA	ENSP00000356988:p.Pro174fs	1814	B1AQP3|D3DVF4|O76091	Frame_Shift_Del	DEL	ENST00000368009.2	37	CCDS1218.1																																																																																				0.514	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077060.1			
NPNT	255743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	106848559	106848561	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	GTT	GTT	GTT	-	GTT	GTT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr4:106848559_106848561delGTT	ENST00000379987.2	+	3	455_457	c.239_241delGTT	c.(238-243)ggttat>gat	p.80_81GY>D	NPNT_ENST00000453617.2_In_Frame_Del_p.97_98GY>D|RP11-710F7.2_ENST00000511059.1_RNA|NPNT_ENST00000513430.1_3'UTR|RP11-710F7.2_ENST00000512514.1_RNA|NPNT_ENST00000305572.8_In_Frame_Del_p.80_81GY>D|NPNT_ENST00000427316.2_In_Frame_Del_p.80_81GY>D|NPNT_ENST00000506666.1_In_Frame_Del_p.80_81GY>D|NPNT_ENST00000514622.1_In_Frame_Del_p.80_81GY>D	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	80	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTCATCCTGGTTATGCTGGAAA	0.399																																																	0																																										SO:0001651	inframe_deletion	255743				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.239_241delGTT	4.37:g.106848559_106848561delGTT	ENSP00000369323:p.Gly80_Tyr81delinsAsp		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	In_Frame_Del	DEL	ENST00000379987.2	37	CCDS34046.1																																																																																				0.399	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1		NM_198278	
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)												5	Unknown(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)								1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190			AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC			Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37	CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			
OPTC	26254	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203465247	203465247	+	Silent	SNP	C	C	T	rs139083417		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:203465247C>T	ENST00000367222.2	+	2	230	c.114C>T	c.(112-114)ggC>ggT	p.G38G		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	38					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.G38G(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGGGAAGGCGATTCCTTTG	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20811	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	137.0	121.0	127.0		114	-8.2	0.0	1	dbSNP_134	127	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	OPTC	NM_014359.3		0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308		38/333	203465247	4,13002	2203	4300	6503	SO:0001819	synonymous_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.114C>T	1.37:g.203465247C>T			Q5T2G4	Silent	SNP	ENST00000367222.2	37	CCDS1439.1																																																																																				0.527	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1		NM_014359	
OR13C5	138799	broad.mit.edu;hgsc.bcm.edu	37	9	107361334	107361334	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr9:107361334C>G	ENST00000374779.2	-	1	454	c.361G>C	c.(361-363)Gac>Cac	p.D121H		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D121H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACATAGCGGTCAAAGGCCATC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											76.0	119.0	105.0					9																	107361334		2203	4300	6503	SO:0001583	missense	138799				CCDS35091.1	9q31.1	2012-10-03			ENSG00000255800	ENSG00000277556		"""GPCR / Class A : Olfactory receptors"""	15100	protein-coding gene	gene with protein product							Standard	NM_001004482		Approved		uc011lvp.2	Q8NGS8	OTTHUMG00000020408	ENST00000374779.2:c.361G>C	9.37:g.107361334C>G	ENSP00000363911:p.Asp121His		B2RNE5|B9EGW5|Q6IF53	Missense_Mutation	SNP	ENST00000374779.2	37	CCDS35091.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341019	0.60963	.	.	ENSG00000255800	ENST00000374779	T	0.18338	2.22	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	U	0.001490	T	0.53110	0.1776	H	0.95611	3.695	0.41478	D	0.988146	D	0.89917	1.0	D	0.85130	0.997	T	0.69224	-0.5201	10	0.87932	D	0	.	13.7391	0.62836	0.0:1.0:0.0:0.0	.	121	Q8NGS8	O13C5_HUMAN	H	121	ENSP00000363911:D121H	ENSP00000363911:D121H	D	-	1	0	OR13C5	106401155	1.000000	0.71417	0.053000	0.19242	0.553000	0.35397	7.452000	0.80683	2.080000	0.62538	0.531000	0.56144	GAC		0.517	OR13C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053479.2		NM_001004482	
PLEKHG3	26030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65208079	65208079	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr14:65208079G>A	ENST00000394691.1	+	16	1991	c.1844G>A	c.(1843-1845)cGg>cAg	p.R615Q	PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R120Q|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.R559Q|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R148Q			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	615							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R559Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCTTCTCTCGGCGGAGCAGC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											45.0	48.0	47.0					14																	65208079		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1844G>A	14.37:g.65208079G>A	ENSP00000378183:p.Arg615Gln		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37		.	.	.	.	.	.	.	.	.	.	G	19.65	3.866424	0.72065	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	D	0.93213	0.7838	M	0.75264	2.295	0.40231	D	0.977847	D;D;P;P	0.89917	1.0;1.0;0.775;0.856	D;D;B;B	0.83275	0.996;0.996;0.116;0.232	D	0.93070	0.6482	10	0.46703	T	0.11	.	18.1404	0.89637	0.0:0.0:1.0:0.0	.	148;120;615;559	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	Q	559;615;148;120	ENSP00000247226:R559Q;ENSP00000378183:R615Q;ENSP00000450945:R148Q;ENSP00000450973:R120Q	ENSP00000247226:R559Q	R	+	2	0	PLEKHG3	64277832	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	3.999000	0.57031	2.595000	0.87683	0.655000	0.94253	CGG		0.662	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549	
RCOR3	55758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	211486237	211486237	+	Silent	SNP	T	T	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:211486237T>A	ENST00000367005.4	+	10	1218	c.1077T>A	c.(1075-1077)acT>acA	p.T359T	RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000419091.2_Silent_p.T417T|RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000452621.2_Silent_p.T417T	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.T359T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		ATGCTTCTACTTTAGGGGAGG	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	125.0	127.0					1																	211486237		2203	4300	6503	SO:0001819	synonymous_variant	55758			AK001738	CCDS31016.1, CCDS44312.1, CCDS44313.1, CCDS44314.1	1q32.3	2008-02-05			ENSG00000117625	ENSG00000117625			25594	protein-coding gene	gene with protein product						10718198	Standard	NM_018254		Approved	FLJ10876	uc010psw.2	Q9P2K3	OTTHUMG00000036996	ENST00000367005.4:c.1077T>A	1.37:g.211486237T>A			B3KYA2|B4DYY7|Q5VT47|Q7L9I5|Q8N5U3|Q9NV83	Silent	SNP	ENST00000367005.4	37	CCDS31016.1																																																																																				0.443	RCOR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089821.1		NM_018254	
RP1L1	94137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10470413	10470413	+	Missense_Mutation	SNP	C	C	T	rs374843101		TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr8:10470413C>T	ENST00000382483.3	-	4	1418	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	399					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.G399W(1)|p.G399R(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTGGCTGCCCGCCTCGGCCA	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16474	0.0		0.0	False		,,,				2504	0.001																2	Substitution - Missense(2)	lung(1)|kidney(1)						C	ARG/GLY	1,3857		0,1,1928	43.0	50.0	48.0		1195	-0.5	0.0	8		48	0,8260		0,0,4130	no	missense	RP1L1	NM_178857.5	125	0,1,6058	TT,TC,CC		0.0,0.0259,0.0083	benign	399/2401	10470413	1,12117	1929	4130	6059	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1195G>A	8.37:g.10470413C>T	ENSP00000371923:p.Gly399Arg		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	0.798	-0.756363	0.03019	2.59E-4	0.0	ENSG00000183638	ENST00000382483	T	0.03745	3.82	4.7	-0.477	0.12097	.	1.566900	0.04684	N	0.412864	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.23058	0.079	B	0.15870	0.014	T	0.41016	-0.9532	10	0.07030	T	0.85	0.1054	1.5023	0.02479	0.3249:0.2719:0.2865:0.1167	.	399	A6NKC6	.	R	399	ENSP00000371923:G399R	ENSP00000371923:G399R	G	-	1	0	RP1L1	10507823	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	1.144000	0.31565	-0.159000	0.11021	-0.258000	0.10820	GGG		0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
SPZ1	84654	broad.mit.edu	37	5	79616434	79616434	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr5:79616434G>A	ENST00000296739.4	+	1	645	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	134					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E134K(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TTTAGCCCCAGAGAAAGAAGA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											71.0	64.0	66.0					5																	79616434		1818	4081	5899	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.400G>A	5.37:g.79616434G>A	ENSP00000369611:p.Glu134Lys		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983613	0.35036	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.61392	0.11;0.89	1.74	-0.558	0.11796	.	.	.	.	.	T	0.41789	0.1174	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.60886	0.88	T	0.27905	-1.0060	9	0.17369	T	0.5	.	0.6509	0.00826	0.1703:0.2459:0.3349:0.2489	.	134	Q9BXG8	SPZ1_HUMAN	K	134	ENSP00000426530:E134K;ENSP00000369611:E134K	ENSP00000369611:E134K	E	+	1	0	SPZ1	79652190	0.897000	0.30589	0.001000	0.08648	0.028000	0.11728	1.274000	0.33132	-0.155000	0.11098	0.313000	0.20887	GAG		0.368	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1		NM_032567	
SPZ1	84654	broad.mit.edu;hgsc.bcm.edu	37	5	79616440	79616440	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr5:79616440G>C	ENST00000296739.4	+	1	651	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	136					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E136Q(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CCCAGAGAAAGAAGACAATGA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											77.0	69.0	71.0					5																	79616440		1823	4085	5908	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.406G>C	5.37:g.79616440G>C	ENSP00000369611:p.Glu136Gln		B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	G	4.482	0.089265	0.08632	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.57273	0.41;1.11	1.06	-1.04	0.10068	.	.	.	.	.	T	0.25158	0.0611	N	0.08118	0	0.09310	N	1	P	0.48016	0.904	B	0.39935	0.314	T	0.15578	-1.0432	9	0.26408	T	0.33	.	5.1736	0.15124	0.6129:0.0:0.3871:0.0	.	136	Q9BXG8	SPZ1_HUMAN	Q	136	ENSP00000426530:E136Q;ENSP00000369611:E136Q	ENSP00000369611:E136Q	E	+	1	0	SPZ1	79652196	0.997000	0.39634	0.005000	0.12908	0.012000	0.07955	0.632000	0.24583	-0.460000	0.07003	-0.657000	0.03884	GAA		0.373	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1		NM_032567	
SRL	6345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4245640	4245640	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr16:4245640C>T	ENST00000399609.3	-	5	536	c.524G>A	c.(523-525)gGc>gAc	p.G175D	SRL_ENST00000537996.1_Missense_Mutation_p.G133D	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	634	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G175D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AACCTCAATGCCAATCAGCTT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											117.0	116.0	116.0					16																	4245640		1893	4122	6015	SO:0001583	missense	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.524G>A	16.37:g.4245640C>T	ENSP00000382518:p.Gly175Asp			Missense_Mutation	SNP	ENST00000399609.3	37	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135681	0.94517	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.96685	-4.09;-4.09	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.98485	0.9495	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	10	0.72032	D	0.01	-18.6276	19.0659	0.93110	0.0:1.0:0.0:0.0	.	175	Q86TD4-2	.	D	175;633;133	ENSP00000382518:G175D;ENSP00000440350:G133D	ENSP00000333285:G633D	G	-	2	0	SRL	4185641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.797000	0.96272	0.655000	0.94253	GGC		0.507	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1		XM_064152	
RNF217-AS1	7955	broad.mit.edu;hgsc.bcm.edu	37	6	125231888	125231888	+	RNA	SNP	T	T	G			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr6:125231888T>G	ENST00000439075.1	-	0	2857					NR_026876.1																						GCTAATAAGTTTCTAATAAGC	0.299																																																	0													17.0	18.0	18.0					6																	125231888		874	1990	2864			7955																															6.37:g.125231888T>G				RNA	SNP	ENST00000439075.1	37																																																																																					0.299	RP11-510H23.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000042059.1			
CTD-2090I13.1	0	broad.mit.edu	37	1	227618218	227618218	+	lincRNA	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr1:227618218G>T	ENST00000445817.1	+	0	1453																											TGCCACCTCTGTGGCCACCAT	0.498																																																	0																																												0																															1.37:g.227618218G>T				RNA	SNP	ENST00000445817.1	37																																																																																					0.498	CTD-2090I13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000091688.1			
USP16	10600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30415852	30415852	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr21:30415852G>T	ENST00000334352.4	+	14	1519	c.1288G>T	c.(1288-1290)Gat>Tat	p.D430Y	USP16_ENST00000399976.2_Missense_Mutation_p.D430Y|USP16_ENST00000399975.3_Missense_Mutation_p.D429Y|USP16_ENST00000535828.1_Missense_Mutation_p.D59Y	NM_001032410.1	NP_001027582.1			ubiquitin specific peptidase 16									p.D430Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAGAGAAGTGATATTCCTTC	0.348																																					Melanoma(92;625 1444 27493 34101 44971)												1	Substitution - Missense(1)	kidney(1)											100.0	93.0	95.0					21																	30415852		2203	4299	6502	SO:0001583	missense	10600			AF126736	CCDS13583.1, CCDS42912.1	21q21	2008-04-11	2005-08-08		ENSG00000156256	ENSG00000156256		"""Ubiquitin-specific peptidases"""	12614	protein-coding gene	gene with protein product		604735	"""ubiquitin specific protease 16"""			12838346	Standard	NM_006447		Approved	Ubp-M	uc002ymy.3	Q9Y5T5	OTTHUMG00000078802	ENST00000334352.4:c.1288G>T	21.37:g.30415852G>T	ENSP00000334808:p.Asp430Tyr			Missense_Mutation	SNP	ENST00000334352.4	37	CCDS13583.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100216	0.37048	.	.	ENSG00000156256	ENST00000399975;ENST00000399976;ENST00000334352;ENST00000535828	T;T;T;T	0.39406	3.26;3.28;3.28;1.08	5.19	3.18	0.36537	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.362411	0.33419	N	0.004923	T	0.43500	0.1250	N	0.22421	0.69	0.50039	D	0.999845	D;D;D;D	0.63046	0.979;0.964;0.992;0.987	P;P;P;P	0.60682	0.771;0.621;0.878;0.87	T	0.41716	-0.9493	10	0.62326	D	0.03	.	10.4454	0.44490	0.0796:0.0:0.7825:0.1379	.	59;415;429;430	B4DUS4;Q9Y5T5-3;Q9Y5T5-2;Q9Y5T5	.;.;.;UBP16_HUMAN	Y	429;430;430;59	ENSP00000382857:D429Y;ENSP00000382858:D430Y;ENSP00000334808:D430Y;ENSP00000442855:D59Y	ENSP00000334808:D430Y	D	+	1	0	USP16	29337723	1.000000	0.71417	0.430000	0.26722	0.015000	0.08874	4.639000	0.61361	1.366000	0.46076	0.591000	0.81541	GAT		0.348	USP16-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171847.1			
ZNF276	92822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89793740	89793740	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr16:89793740G>C	ENST00000443381.2	+	5	1157	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	ZNF276_ENST00000446326.2_Intron|ZNF276_ENST00000289816.5_Missense_Mutation_p.D279H|ZNF276_ENST00000568064.1_Intron	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	354					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D279H(1)|p.D354H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCGGGTAAAAGACGAGTTCAG	0.473																																																	2	Substitution - Missense(2)	kidney(2)											177.0	160.0	166.0					16																	89793740		2198	4300	6498	SO:0001583	missense	92822			AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1060G>C	16.37:g.89793740G>C	ENSP00000415836:p.Asp354His		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416386	0.83449	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.06933	3.24;3.28	5.54	5.54	0.83059	.	0.103551	0.64402	D	0.000006	T	0.21022	0.0506	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.956	T	0.00455	-1.1729	10	0.66056	D	0.02	-39.6277	18.4672	0.90760	0.0:0.0:1.0:0.0	.	192;354	B4DIT3;Q8N554	.;ZN276_HUMAN	H	279;354	ENSP00000289816:D279H;ENSP00000415836:D354H	ENSP00000289816:D279H	D	+	1	0	ZNF276	88321241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.444000	0.73452	2.596000	0.87737	0.655000	0.94253	GAC		0.473	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1		NM_152287	
FGFR2	2263	broad.mit.edu	37	10	123353298	123353298	+	Missense_Mutation	SNP	C	C	T	rs143978938	byFrequency	TCGA-BP-5202-01A-02D-1429-08	TCGA-BP-5202-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	accc7214-d441-4a72-a2eb-9f2811c38a3e	222d710e-2151-4a97-aede-2e7c58707b5b	g.chr10:123353298C>T	ENST00000358487.5	-	2	306	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000360144.3_Missense_Mutation_p.V12M|FGFR2_ENST00000457416.2_Missense_Mutation_p.V12M|FGFR2_ENST00000369060.4_Missense_Mutation_p.V12M|FGFR2_ENST00000356226.4_Missense_Mutation_p.V12M|FGFR2_ENST00000369059.1_Missense_Mutation_p.V12M|FGFR2_ENST00000346997.2_Missense_Mutation_p.V12M|FGFR2_ENST00000351936.6_Missense_Mutation_p.V12M|FGFR2_ENST00000369056.1_Missense_Mutation_p.V12M|FGFR2_ENST00000369061.4_Missense_Mutation_p.V12M|FGFR2_ENST00000359354.2_Missense_Mutation_p.V12M|FGFR2_ENST00000357555.5_Missense_Mutation_p.V12M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	12					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.V12M(4)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	ATGGTGACCACGACCAGGCAG	0.502		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				C|||	6	0.00119808	0.0038	0.0014	5008	,	,		19466	0.0		0.0	False		,,,				2504	0.0					.		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	4	Substitution - Missense(4)	kidney(4)						C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	6,4400	11.4+/-27.6	0,6,2197	165.0	131.0	143.0		34,34,34,34,34,34,34,34,34	0.6	0.1	10	dbSNP_134	143	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense	FGFR2	NM_000141.4,NM_001144913.1,NM_001144914.1,NM_001144915.1,NM_001144916.1,NM_001144917.1,NM_001144918.1,NM_001144919.1,NM_022970.3	21,21,21,21,21,21,21,21,21	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	benign,benign,benign,benign,benign,benign,benign,benign,benign	12/822,12/770,12/710,12/708,12/707,12/706,12/705,12/681,12/823	123353298	7,12999	2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.34G>A	10.37:g.123353298C>T	ENSP00000351276:p.Val12Met		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	11.95	1.792491	0.31685	0.001362	1.16E-4	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553;ENST00000359354	D;T;T;T;T;T;T;T;T;D;T;T;D;T	0.82711	-1.64;-1.35;-1.26;-1.35;-1.34;-1.37;-1.27;-1.26;-1.27;-1.58;-1.26;-1.26;-1.6;-0.75	5.36	0.594	0.17485	.	1.246490	0.05546	N	0.566700	T	0.60483	0.2272	N	0.24115	0.695	0.09310	N	1	B;B;P;B;B;B;B;B;B;B;B;B	0.36010	0.026;0.106;0.532;0.07;0.002;0.013;0.013;0.006;0.002;0.006;0.0;0.006	B;B;B;B;B;B;B;B;B;B;B;B	0.23716	0.011;0.007;0.048;0.029;0.003;0.004;0.006;0.01;0.004;0.007;0.004;0.006	T	0.56601	-0.7952	10	0.49607	T	0.09	.	5.5093	0.16872	0.27:0.5441:0.112:0.0739	.	31;31;12;12;31;12;12;12;12;31;12;12	D3DRD9;D3DRD4;B5A963;B5A960;D3DRD5;P21802-18;P21802-21;P21802-20;P21802;D3DRE0;P21802-22;P21802-17	.;.;.;.;.;.;.;.;FGFR2_HUMAN;.;.;.	M	12	ENSP00000350166:V12M;ENSP00000358057:V12M;ENSP00000351276:V12M;ENSP00000348559:V12M;ENSP00000358056:V12M;ENSP00000358055:V12M;ENSP00000263451:V12M;ENSP00000410294:V12M;ENSP00000309878:V12M;ENSP00000353262:V12M;ENSP00000358052:V12M;ENSP00000358054:V12M;ENSP00000337665:V12M;ENSP00000352309:V12M	ENSP00000337665:V12M	V	-	1	0	FGFR2	123343288	0.983000	0.35010	0.131000	0.22000	0.987000	0.75469	0.725000	0.25970	0.203000	0.20529	0.650000	0.86243	GTG		0.502	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1		NM_022976, NM_000141	
