#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
ACACB	32	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109702175	109702175	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:109702175A>G	ENST00000338432.7	+	50	7045	c.6926A>G	c.(6925-6927)gAg>gGg	p.E2309G	ACACB_ENST00000377848.3_Missense_Mutation_p.E2309G|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.E2239G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2309					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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E2309G(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGATGCTGGAGAAGGGCGTC	0.627											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											49.0	49.0	49.0					12																	109702175		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6926A>G	12.37:g.109702175A>G	ENSP00000341044:p.Glu2309Gly	1421	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025174	0.93518	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000537279	T;T;T	0.33654	1.4;1.4;1.4	4.65	4.65	0.58169	Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.86028	2.79	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.68085	-0.5502	10	0.51188	T	0.08	.	14.4118	0.67119	1.0:0.0:0.0:0.0	.	2309	O00763	ACACB_HUMAN	G	2309;2309;2239;1540;3	ENSP00000341044:E2309G;ENSP00000367079:E2309G;ENSP00000367085:E2239G	ENSP00000341044:E2309G	E	+	2	0	ACACB	108186558	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.339000	0.96797	1.880000	0.54463	0.459000	0.35465	GAG		0.627	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093	
ACTBL2	345651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56777710	56777710	+	Silent	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr5:56777710G>A	ENST00000423391.1	-	1	926	c.825C>T	c.(823-825)atC>atT	p.I275I	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	275						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.I275I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TTGTCTCATGGATCCCACTGG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	95.0	98.0					5																	56777710		2203	4300	6503	SO:0001819	synonymous_variant	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.825C>T	5.37:g.56777710G>A			B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	ENST00000423391.1	37	CCDS34163.1																																																																																				0.502	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1		NM_001017992	
AHSG	197	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186335070	186335070	+	Silent	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:186335070G>T	ENST00000273784.5	+	4	583	c.507G>T	c.(505-507)ctG>ctT	p.L169L	AHSG_ENST00000411641.2_Silent_p.L168L	NM_001622.2	NP_001613.2	P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	168	Cystatin fetuin-A-type 2. {ECO:0000255|PROSITE-ProRule:PRU00861}.			PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). {ECO:0000305}.	acute-phase response (GO:0006953)|negative regulation of bone mineralization (GO:0030502)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|ossification (GO:0001503)|pinocytosis (GO:0006907)|positive regulation of phagocytosis (GO:0050766)|regulation of bone mineralization (GO:0030500)|regulation of inflammatory response (GO:0050727)|skeletal system development (GO:0001501)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|kinase inhibitor activity (GO:0019210)	p.L168L(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AAGCTGCCCTGGCCGCCTTCA	0.597											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											72.0	69.0	70.0					3																	186335070		2203	4300	6503	SO:0001819	synonymous_variant	197			D67013, M16961	CCDS3278.1	3q27.3	2006-02-22			ENSG00000145192	ENSG00000145192			349	protein-coding gene	gene with protein product		138680				9322749, 7736783	Standard	NM_001622		Approved	FETUA, A2HS, HSGA	uc003fqk.4	P02765	OTTHUMG00000156605	ENST00000273784.5:c.507G>T	3.37:g.186335070G>T		2006	A8K9N6|B2R7G1|O14961|O14962|Q9P152	Silent	SNP	ENST00000273784.5	37																																																																																					0.597	AHSG-002	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000344762.1		NM_001622	
AKAP2	11217	hgsc.bcm.edu	37	9	112900341	112900342	+	In_Frame_Ins	INS	-	-	GAAGCT	rs373159646|rs34665027|rs150402481	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr9:112900341_112900342insGAAGCT	ENST00000259318.7	+	2	2031_2032	c.1824_1825insGAAGCT	c.(1825-1827)gaa>GAAGCTgaa	p.609_609E>EAE	AKAP2_ENST00000374525.1_In_Frame_Ins_p.698_698E>EAE|AKAP2_ENST00000434623.2_In_Frame_Ins_p.698_698E>EAE|PALM2-AKAP2_ENST00000374530.3_In_Frame_Ins_p.840_840E>EAE|AKAP2_ENST00000555236.1_In_Frame_Ins_p.840_840E>EAE|AKAP2_ENST00000510514.5_In_Frame_Ins_p.840_840E>EAE|PALM2-AKAP2_ENST00000302798.7_In_Frame_Ins_p.840_840E>EAE	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	609								p.E839_E840insEA(1)|p.E697_E698insEA(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CGACTGTAGAGGAAGCTGAAGC	0.505														656	0.13099	0.1309	0.0821	5008	,	,		20174	0.2133		0.1362	False		,,,				2504	0.0757																2	Insertion - In frame(2)	lung(2)							,,,,	550,3714		39,472,1621					,,,,	2.7	0.9		dbSNP_134	39	1146,7108		82,982,3063	no	coding,coding,coding,coding,coding	AKAP2,PALM2-AKAP2	NM_147150.2,NM_007203.4,NM_001198656.1,NM_001136562.2,NM_001004065.4	,,,,	121,1454,4684	A1A1,A1R,RR		13.8842,12.8987,13.5485	,,,,	,,,,		1696,10822				SO:0001652	inframe_insertion	11217			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1831_1836dupGAAGCT	9.37:g.112900342_112900347dupGAAGCT	Exception_encountered		B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	In_Frame_Ins	INS	ENST00000259318.7	37	CCDS48003.1																																																																																				0.505	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3		NM_001004065	
AXL	558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	41727096	41727096	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:41727096G>C	ENST00000301178.4	+	3	544	c.354G>C	c.(352-354)ttG>ttC	p.L118F	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.L118F|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	118	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L118F(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCAGTGTTTGGTGTTTCTGG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											156.0	123.0	134.0					19																	41727096		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.354G>C	19.37:g.41727096G>C	ENSP00000301178:p.Leu118Phe		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413993	0.25465	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.65732	-0.17;-0.17	4.74	-8.74	0.00838	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.617192	0.14955	N	0.288667	T	0.33411	0.0862	L	0.31845	0.965	0.09310	N	1	P;P	0.41929	0.722;0.765	B;B	0.35770	0.134;0.21	T	0.23190	-1.0195	10	0.62326	D	0.03	-0.093	1.5669	0.02606	0.1577:0.2273:0.3345:0.2806	.	118;118	P30530-2;P30530	.;UFO_HUMAN	F	118	ENSP00000301178:L118F;ENSP00000351995:L118F	ENSP00000301178:L118F	L	+	3	2	AXL	46418936	0.000000	0.05858	0.002000	0.10522	0.308000	0.27856	-2.170000	0.01268	-0.848000	0.04163	0.306000	0.20318	TTG		0.587	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93784657	93784657	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr10:93784657C>T	ENST00000265990.6	+	35	5316	c.5008C>T	c.(5008-5010)Ccc>Tcc	p.P1670S	BTAF1_ENST00000544642.1_Missense_Mutation_p.P498S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1670	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1670S(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACCTCACTTGCCCTCTGTCAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											161.0	146.0	151.0					10																	93784657		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.5008C>T	10.37:g.93784657C>T	ENSP00000265990:p.Pro1670Ser		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379823	0.95945	.	.	ENSG00000095564	ENST00000265990;ENST00000544642;ENST00000538688	T;T	0.75367	-0.93;-0.93	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.81513	0.4838	L	0.38953	1.18	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	T	0.81906	-0.0718	10	0.72032	D	0.01	-9.2038	20.4756	0.99175	0.0:1.0:0.0:0.0	.	1670	O14981	BTAF1_HUMAN	S	1670;498;520	ENSP00000265990:P1670S;ENSP00000439924:P498S	ENSP00000265990:P1670S	P	+	1	0	BTAF1	93774637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.037000	0.70956	2.847000	0.97988	0.655000	0.94253	CCC		0.443	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972	
C17orf47	284083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56620818	56620818	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr17:56620818G>T	ENST00000321691.3	-	1	911	c.730C>A	c.(730-732)Cct>Act	p.P244T	SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	244								p.P244T(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTCTACAGGGACCCTTCTC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											94.0	101.0	98.0					17																	56620818		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.730C>A	17.37:g.56620818G>T	ENSP00000354874:p.Pro244Thr		Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882290	0.33255	.	.	ENSG00000181013	ENST00000321691	T	0.32272	1.46	5.06	-0.808	0.10868	.	0.730054	0.12306	N	0.480648	T	0.13713	0.0332	N	0.17082	0.46	0.09310	N	1	B	0.30851	0.297	B	0.27262	0.078	T	0.25710	-1.0124	10	0.21014	T	0.42	-1.106	4.8667	0.13611	0.1669:0.0:0.4173:0.4158	.	244	Q8NEP4	CQ047_HUMAN	T	244	ENSP00000354874:P244T	ENSP00000354874:P244T	P	-	1	0	C17orf47	53975817	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.889000	0.28282	-0.021000	0.14009	-0.251000	0.11542	CCT		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		NM_001038704	
CCDC93	54520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	118766138	118766138	+	Silent	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:118766138A>G	ENST00000376300.2	-	2	276	c.139T>C	c.(139-141)Tta>Cta	p.L47L	AC009303.1_ENST00000590516.1_RNA|AC009303.1_ENST00000588042.1_RNA|CCDC93_ENST00000319432.5_Silent_p.L47L	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	47								p.L47L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AAGGGTGATAAGCCTTTAATT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											165.0	153.0	157.0					2																	118766138		2203	4300	6503	SO:0001819	synonymous_variant	54520			BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.139T>C	2.37:g.118766138A>G			A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Silent	SNP	ENST00000376300.2	37	CCDS2121.2																																																																																				0.388	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1		NM_019044	
CCL3	6348	hgsc.bcm.edu;ucsc.edu	37	17	34417377	34417377	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr17:34417377C>A	ENST00000225245.5	-	1	110	c.28G>T	c.(28-30)Gtc>Ttc	p.V10F	AC069363.1_ENST00000590992.1_RNA|AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	10					astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGAGGAGGACAGCAAGGGCA	0.552																																																	0													262.0	185.0	211.0					17																	34417377		2203	4300	6503	SO:0001583	missense	6348			M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.28G>T	17.37:g.34417377C>A	ENSP00000225245:p.Val10Phe			Missense_Mutation	SNP	ENST00000225245.5	37	CCDS11307.1	.	.	.	.	.	.	.	.	.	.	.	8.996	0.978878	0.18812	.	.	ENSG00000006075	ENST00000225245	T	0.03035	4.07	5.68	-1.34	0.09143	.	0.743132	0.11996	N	0.509279	T	0.06508	0.0167	.	.	.	0.09310	N	1	P	0.45715	0.865	P	0.50617	0.646	T	0.32241	-0.9914	9	0.38643	T	0.18	.	8.8299	0.35078	0.0:0.4431:0.0:0.5569	.	10	P10147	CCL3_HUMAN	F	10	ENSP00000225245:V10F	ENSP00000225245:V10F	V	-	1	0	CCL3	31441490	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.592000	0.00898	-0.185000	0.10550	-0.845000	0.03042	GTC		0.552	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256581.1		NM_002983	
CCND3	896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41904303	41904303	+	Silent	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr6:41904303A>G	ENST00000372991.4	-	4	903	c.705T>C	c.(703-705)acT>acC	p.T235T	CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511642.1_Silent_p.T154T|CCND3_ENST00000415497.2_Silent_p.T39T|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Silent_p.T154T|CCND3_ENST00000414200.2_Silent_p.T163T|CCND3_ENST00000372987.4_Silent_p.T185T	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	235					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)	p.T235T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCACCACTTCAGTGCCAGTGA	0.602			T	IGH@	MM						OREG0017437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		6	6p21	896	cyclin D3		L	1	Substitution - coding silent(1)	kidney(1)											58.0	50.0	53.0					6																	41904303		2203	4300	6503	SO:0001819	synonymous_variant	896				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.705T>C	6.37:g.41904303A>G		904	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Silent	SNP	ENST00000372991.4	37	CCDS4863.1	.	.	.	.	.	.	.	.	.	.	a	8.797	0.932066	0.18131	.	.	ENSG00000112576	ENST00000512426	.	.	.	5.41	-1.26	0.09376	.	.	.	.	.	T	0.22859	0.0552	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25779	-1.0122	4	.	.	.	.	1.6231	0.02717	0.23:0.1128:0.1523:0.5049	.	.	.	.	P	170	.	.	L	-	2	0	CCND3	42012281	0.000000	0.05858	0.997000	0.53966	0.986000	0.74619	-2.474000	0.00988	-0.203000	0.10251	0.383000	0.25322	CTG		0.602	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040540.2		NM_001760	
CENPI	2491	broad.mit.edu;hgsc.bcm.edu	37	X	100381784	100381784	+	Silent	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:100381784G>A	ENST00000372927.1	+	8	1051	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CENPI_ENST00000218507.5_Silent_p.K258K|CENPI_ENST00000423383.1_Silent_p.K258K|CENPI_ENST00000372926.1_Silent_p.K258K	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	258					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)		p.K258K(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTGTAAGGAAGAAGGTAAGGG	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											195.0	187.0	190.0					X																	100381784		2203	4300	6503	SO:0001819	synonymous_variant	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.774G>A	X.37:g.100381784G>A			Q5JWZ9|Q96ED0	Silent	SNP	ENST00000372927.1	37	CCDS14479.1																																																																																				0.343	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1		NM_006733	
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6661620	6661620	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr11:6661620C>T	ENST00000299441.3	-	2	1636	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E409K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTGGCCCTCTCCACCTTCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											54.0	49.0	51.0					11																	6661620		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1225G>A	11.37:g.6661620C>T	ENSP00000299441:p.Glu409Lys		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067919	0.93950	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.146541	0.31301	N	0.007895	T	0.63105	0.2483	L	0.47716	1.5	0.58432	D	0.999999	D	0.61697	0.99	D	0.80764	0.994	T	0.56019	-0.8048	10	0.30078	T	0.28	.	18.7519	0.91819	0.0:1.0:0.0:0.0	.	409	Q96JQ0	PCD16_HUMAN	K	409	ENSP00000299441:E409K	ENSP00000299441:E409K	E	-	1	0	DCHS1	6618196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.925000	0.63425	2.661000	0.90470	0.637000	0.83480	GAG		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737	
DNAH10	196385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124270368	124270368	+	Missense_Mutation	SNP	T	T	A	rs199697349		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:124270368T>A	ENST00000409039.3	+	9	1148	c.1123T>A	c.(1123-1125)Tgg>Agg	p.W375R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	375	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W375R(1)|p.W193R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCGGATGGTGTGGATCATCTC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											124.0	105.0	111.0					12																	124270368		2203	4300	6503	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.1123T>A	12.37:g.124270368T>A	ENSP00000386770:p.Trp375Arg		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	30	5.055643	0.93793	.	.	ENSG00000197653	ENST00000409039	T	0.59364	0.27	5.82	5.82	0.92795	Dynein heavy chain, domain-1 (1);	0.000000	0.64402	D	0.000006	T	0.81384	0.4811	M	0.91717	3.235	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	D	0.85767	0.1353	10	0.87932	D	0	.	16.161	0.81712	0.0:0.0:0.0:1.0	.	375	Q8IVF4	DYH10_HUMAN	R	375	ENSP00000386770:W375R	ENSP00000386770:W375R	W	+	1	0	DNAH10	122836321	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.895000	0.87343	2.219000	0.72066	0.459000	0.35465	TGG		0.577	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			
DTNA	1837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	32459638	32459638	+	Missense_Mutation	SNP	G	G	T	rs150410546		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr18:32459638G>T	ENST00000399113.3	+	19	2036	c.2036G>T	c.(2035-2037)gGg>gTg	p.G679V	DTNA_ENST00000601125.1_Missense_Mutation_p.G301V|DTNA_ENST00000283365.9_Missense_Mutation_p.G622V|DTNA_ENST00000591182.1_Missense_Mutation_p.G327V|DTNA_ENST00000595022.1_Missense_Mutation_p.G619V|DTNA_ENST00000598334.1_Missense_Mutation_p.G619V|DTNA_ENST00000556414.3_Missense_Mutation_p.G331V|DTNA_ENST00000444659.1_Missense_Mutation_p.G679V|DTNA_ENST00000399097.3_Missense_Mutation_p.G327V|DTNA_ENST00000269190.7_Missense_Mutation_p.G680V|DTNA_ENST00000399121.5_Missense_Mutation_p.G626V|DTNA_ENST00000269192.7_Missense_Mutation_p.G388V|DTNA_ENST00000590831.2_Missense_Mutation_p.G105V|DTNA_ENST00000598142.1_Missense_Mutation_p.G622V			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	679					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.G680V(1)|p.G679V(1)|p.G327V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGAAAACCTGGGTACATTCAC	0.458																																																	3	Substitution - Missense(3)	kidney(3)											81.0	74.0	77.0					18																	32459638		2203	4300	6503	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2036G>T	18.37:g.32459638G>T	ENSP00000382064:p.Gly679Val		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363030	0.61403	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.17528	2.27;2.28;2.28;2.28	4.79	4.79	0.61399	.	0.160044	0.44688	D	0.000431	T	0.26557	0.0649	N	0.14661	0.345	0.80722	D	1	D;B;B;P;D;P;D;D;D	0.89917	1.0;0.27;0.368;0.549;1.0;0.888;0.994;0.994;0.997	D;B;B;B;D;P;D;D;D	0.87578	0.992;0.264;0.122;0.196;0.998;0.615;0.99;0.99;0.996	T	0.18493	-1.0335	10	0.72032	D	0.01	-15.4121	16.4133	0.83726	0.0:0.0:1.0:0.0	.	331;388;369;679;622;327;626;630;622	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	V	622;622;626;680;327;679;679;679;388;327;331	ENSP00000283365:G622V;ENSP00000269190:G680V;ENSP00000405819:G679V;ENSP00000382064:G679V	ENSP00000269190:G680V	G	+	2	0	DTNA	30713636	1.000000	0.71417	0.992000	0.48379	0.657000	0.38888	7.003000	0.76310	2.371000	0.80710	0.655000	0.94253	GGG		0.458	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2		NM_001390	
FAM179B	23116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	45433179	45433179	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr14:45433179C>G	ENST00000361577.3	+	1	1769	c.1555C>G	c.(1555-1557)Ctt>Gtt	p.L519V	FAM179B_ENST00000382233.2_Missense_Mutation_p.L519V|KLHL28_ENST00000355081.2_5'Flank|KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361462.2_Missense_Mutation_p.L519V|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	519								p.L519V(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGCCCCAGCTCTTGTAGATAG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											125.0	114.0	118.0					14																	45433179		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1555C>G	14.37:g.45433179C>G	ENSP00000355045:p.Leu519Val		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045953	0.55110	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.66995	-0.24;-0.24;-0.24	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000016	T	0.75317	0.3833	L	0.51422	1.61	0.49051	D	0.999745	P;D;D;P	0.89917	0.942;0.998;1.0;0.942	D;D;D;D	0.85130	0.928;0.996;0.997;0.928	T	0.76862	-0.2802	10	0.72032	D	0.01	-10.6836	10.8007	0.46487	0.0:0.9122:0.0:0.0878	.	519;519;519;519	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	519	ENSP00000355045:L519V;ENSP00000354917:L519V;ENSP00000371668:L519V	ENSP00000354917:L519V	L	+	1	0	FAM179B	44502929	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.701000	0.54793	2.379000	0.81126	0.561000	0.74099	CTT		0.478	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781	
FAM91A1	157769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124817571	124817571	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr8:124817571T>A	ENST00000334705.7	+	19	2120	c.1874T>A	c.(1873-1875)cTa>cAa	p.L625Q	FAM91A1_ENST00000521166.1_Missense_Mutation_p.L625Q	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	625								p.L625Q(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GAAACAGAACTACAAGGAGGT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											105.0	92.0	96.0					8																	124817571		1834	4080	5914	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1874T>A	8.37:g.124817571T>A	ENSP00000335082:p.Leu625Gln		B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	T	13.33	2.204458	0.38905	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.30714	1.52;1.52	5.46	5.46	0.80206	.	0.067741	0.64402	D	0.000011	T	0.25158	0.0611	L	0.46157	1.445	0.53688	D	0.999973	B;B	0.06786	0.0;0.001	B;B	0.12837	0.008;0.005	T	0.07790	-1.0754	10	0.13853	T	0.58	.	10.5325	0.44986	0.1804:0.0:0.0:0.8196	.	625;625	E7ER68;Q658Y4	.;F91A1_HUMAN	Q	625	ENSP00000429491:L625Q;ENSP00000335082:L625Q	ENSP00000335082:L625Q	L	+	2	0	FAM91A1	124886752	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.344000	0.72991	2.072000	0.62099	0.383000	0.25322	CTA		0.338	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1		NM_144963	
FBXL14	144699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	1702196	1702196	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:1702196T>C	ENST00000339235.3	-	1	1135	c.1037A>G	c.(1036-1038)aAg>aGg	p.K346R	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'UTR	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	346					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.K346R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTCCAGGCCCTTGTCCGTGAT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											131.0	111.0	118.0					12																	1702196		2203	4300	6503	SO:0001583	missense	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.1037A>G	12.37:g.1702196T>C	ENSP00000344855:p.Lys346Arg			Missense_Mutation	SNP	ENST00000339235.3	37	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373142	0.24857	.	.	ENSG00000171823	ENST00000339235	T	0.02345	4.33	4.85	3.71	0.42584	.	0.122706	0.56097	D	0.000026	T	0.02156	0.0067	N	0.17723	0.515	0.45318	D	0.998311	P	0.46395	0.877	B	0.40741	0.339	T	0.65994	-0.6033	10	0.15499	T	0.54	.	10.3027	0.43661	0.0:0.0775:0.0:0.9225	.	346	Q8N1E6	FXL14_HUMAN	R	346	ENSP00000344855:K346R	ENSP00000344855:K346R	K	-	2	0	FBXL14	1572457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.801000	0.85960	0.872000	0.35775	0.528000	0.53228	AAG		0.617	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1		NM_152441	
FBXO11	80204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48066061	48066061	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:48066061T>C	ENST00000403359.3	-	4	596	c.524A>G	c.(523-525)gAt>gGt	p.D175G	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000402508.1_Missense_Mutation_p.D91G|FBXO11_ENST00000316377.4_Missense_Mutation_p.D91G|FBXO11_ENST00000378314.3_Missense_Mutation_p.D57G	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	175	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.D91G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCTACAAAGATCCTGTTCCAG	0.368			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											113.0	105.0	107.0					2																	48066061		2203	4300	6503	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.524A>G	2.37:g.48066061T>C	ENSP00000384823:p.Asp175Gly		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762219	0.89932	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	T;T;T;T;T	0.63255	1.46;1.46;1.46;-0.03;-0.03	5.5	5.5	0.81552	F-box domain, cyclin-like (2);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.92077	3.27	0.80722	D	1	B	0.31910	0.346	B	0.25987	0.065	T	0.75872	-0.3164	10	0.72032	D	0.01	-9.3875	15.598	0.76602	0.0:0.0:0.0:1.0	.	175	Q86XK2	FBX11_HUMAN	G	91;175;91;91;57	ENSP00000385398:D91G;ENSP00000384823:D175G;ENSP00000323822:D91G;ENSP00000392272:D91G;ENSP00000367565:D57G	ENSP00000323822:D91G	D	-	2	0	FBXO11	47919565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.079000	0.62486	0.460000	0.39030	GAT		0.368	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3		NM_012167, NM_018693, NM_025133	
FMNL2	114793	hgsc.bcm.edu	37	2	153493057	153493059	+	In_Frame_Del	DEL	AAT	AAT	-	rs563346055	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:153493057_153493059delAAT	ENST00000475377.2	+	9	1122_1124	c.922_924delAAT	c.(922-924)aatdel	p.N308del	FMNL2_ENST00000288670.9_In_Frame_Del_p.N933del			Q96PY5	FMNL2_HUMAN	formin-like 2	933	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATCCTCAACAATGAGGGGAAGC	0.507														7	0.00139776	0.0	0.0014	5008	,	,		21120	0.0		0.003	False		,,,				2504	0.0031																0										5,3999		0,5,1997						4.7	1.0			63	34,8062		1,32,4015	no	coding	FMNL2	NM_052905.3		1,37,6012	A1A1,A1R,RR		0.42,0.1249,0.3223				39,12061				SO:0001651	inframe_deletion	114793			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.922_924delAAT	2.37:g.153493057_153493059delAAT	ENSP00000418959:p.Asn308del		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	In_Frame_Del	DEL	ENST00000475377.2	37																																																																																					0.507	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333583.3		NM_052905	
GAPDHS	26330	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36029250	36029250	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:36029250A>G	ENST00000222286.4	+	3	403	c.287A>G	c.(286-288)gAg>gGg	p.E96G	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000590125.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	96					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)	p.E96G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCTGCATGGAGAAGGGTGTT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											88.0	62.0	71.0					19																	36029250		2203	4299	6502	SO:0001583	missense	26330			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.287A>G	19.37:g.36029250A>G	ENSP00000222286:p.Glu96Gly		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	ENST00000222286.4	37	CCDS12465.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792655	0.70452	.	.	ENSG00000105679	ENST00000222286	T	0.30448	1.53	5.3	4.27	0.50696	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.203915	0.42294	D	0.000726	T	0.24624	0.0597	L	0.38649	1.16	0.51767	D	0.999935	B	0.33413	0.411	B	0.33521	0.165	T	0.03157	-1.1066	10	0.45353	T	0.12	-31.2558	10.5052	0.44830	0.8366:0.1634:0.0:0.0	.	96	O14556	G3PT_HUMAN	G	96	ENSP00000222286:E96G	ENSP00000222286:E96G	E	+	2	0	GAPDHS	40721090	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.253000	0.78320	0.812000	0.34326	0.533000	0.62120	GAG		0.592	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1		NM_014364	
IL17RC	84818	broad.mit.edu	37	3	9970113	9970113	+	Silent	SNP	T	T	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:9970113T>G	ENST00000295981.3	+	11	1433	c.1215T>G	c.(1213-1215)ggT>ggG	p.G405G	IL17RC_ENST00000383812.4_Silent_p.G319G|IL17RC_ENST00000455057.1_Silent_p.G319G|IL17RC_ENST00000413608.1_Silent_p.G334G|IL17RC_ENST00000416074.2_Silent_p.G190G|IL17RC_ENST00000403601.3_Silent_p.G334G|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	405					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)	p.G405G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGCTCCGGGTGGGGACCCCT	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	37.0	35.0					3																	9970113		2202	4297	6499	SO:0001819	synonymous_variant	84818			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.1215T>G	3.37:g.9970113T>G			E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	ENST00000295981.3	37	CCDS2590.1																																																																																				0.682	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250526.2		NM_032732	
GPR128	84873	broad.mit.edu;hgsc.bcm.edu	37	3	100354672	100354672	+	Splice_Site	SNP	T	T	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:100354672T>A	ENST00000273352.3	+	5	865		c.e5+2		GPR128_ENST00000475887.1_Splice_Site	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCACCTGAGGTAAAACTCACA	0.368																																					Pancreas(87;185 1975 7223 18722)												1	Unknown(1)	kidney(1)											49.0	47.0	48.0					3																	100354672		2203	4300	6503	SO:0001630	splice_region_variant	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.597+2T>A	3.37:g.100354672T>A			Q14D94|Q86SQ2	Splice_Site	SNP	ENST00000273352.3	37	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	12.27	1.887924	0.33348	.	.	ENSG00000144820	ENST00000273352	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2603	0.54647	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR128	101837362	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	3.424000	0.52764	2.150000	0.67090	0.482000	0.46254	.		0.368	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			Intron
ITGAV	3685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	187500900	187500900	+	Silent	SNP	G	G	A	rs201616731		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:187500900G>A	ENST00000261023.3	+	7	997	c.723G>A	c.(721-723)cgG>cgA	p.R241R	ITGAV_ENST00000433736.2_Silent_p.R195R|ITGAV_ENST00000374907.3_Silent_p.R205R	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	241					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.R241R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TAGCAACTCGGACTGCACAAG	0.353																																					Melanoma(58;108 1995 6081)												1	Substitution - coding silent(1)	kidney(1)											102.0	102.0	102.0					2																	187500900		2202	4300	6502	SO:0001819	synonymous_variant	3685				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.723G>A	2.37:g.187500900G>A			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	CCDS2292.1																																																																																				0.353	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2		NM_002210	
KAL1	3730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	8504907	8504907	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:8504907C>A	ENST00000262648.3	-	11	1675	c.1526G>T	c.(1525-1527)aGt>aTt	p.S509I	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	509	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S509I(1)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTTGGAGTGACTTTTTGGCCG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											136.0	111.0	119.0					X																	8504907		2203	4300	6503	SO:0001583	missense	3730				CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1526G>T	X.37:g.8504907C>A	ENSP00000262648:p.Ser509Ile		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266629	0.23136	.	.	ENSG00000011201	ENST00000262648	T	0.53857	0.6	3.99	3.99	0.46301	Fibronectin, type III (2);	0.446929	0.26119	N	0.026234	T	0.45836	0.1362	L	0.29908	0.895	0.23916	N	0.996477	B	0.33512	0.415	B	0.42625	0.393	T	0.46803	-0.9165	10	0.87932	D	0	-12.1613	8.6593	0.34081	0.0:0.891:0.0:0.109	.	509	P23352	KALM_HUMAN	I	509	ENSP00000262648:S509I	ENSP00000262648:S509I	S	-	2	0	KAL1	8464907	1.000000	0.71417	0.003000	0.11579	0.241000	0.25554	3.903000	0.56318	1.609000	0.50190	0.594000	0.82650	AGT		0.453	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1		NM_000216	
LRP1B	53353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	141116420	141116420	+	Missense_Mutation	SNP	C	C	T	rs150879175	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:141116420C>T	ENST00000389484.3	-	73	12198	c.11227G>A	c.(11227-11229)Ggt>Agt	p.G3743S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3743	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G3743S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATTGTCACCGCATTCATCA	0.398										TSP Lung(27;0.18)			C|||	10	0.00199681	0.0	0.0014	5008	,	,		16598	0.0		0.007	False		,,,				2504	0.002				Colon(99;50 2074 2507 20106)												1	Substitution - Missense(1)	kidney(1)						C	SER/GLY	2,4404	4.2+/-10.8	0,2,2201	212.0	189.0	197.0		11227	5.5	1.0	2	dbSNP_134	197	57,8541	36.4+/-91.3	0,57,4242	yes	missense	LRP1B	NM_018557.2	56	0,59,6443	TT,TC,CC		0.6629,0.0454,0.4537	probably-damaging	3743/4600	141116420	59,12945	2203	4299	6502	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11227G>A	2.37:g.141116420C>T	ENSP00000374135:p.Gly3743Ser		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	22.1	4.250799	0.80135	4.54E-4	0.006629	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.59083	0.29	5.46	5.46	0.80206	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	T	0.65657	0.2712	L	0.55743	1.74	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.65038	-0.6265	10	0.28530	T	0.3	.	18.8905	0.92399	0.0:1.0:0.0:0.0	.	3743	Q9NZR2	LRP1B_HUMAN	S	3743;3681	ENSP00000374135:G3743S	ENSP00000374135:G3743S	G	-	1	0	LRP1B	140832890	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	6.968000	0.76086	2.563000	0.86464	0.591000	0.81541	GGT		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2		NM_018557	
MET	4233	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116339927	116339927	+	Silent	SNP	G	G	T	rs554190225	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr7:116339927G>T	ENST00000318493.6	+	2	976	c.789G>T	c.(787-789)acG>acT	p.T263T	MET_ENST00000436117.2_Silent_p.T263T|MET_ENST00000397752.3_Silent_p.T263T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T263T(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACTTCTTGACGGTCCAAAGGG	0.403			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																															Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	1	Substitution - coding silent(1)	kidney(1)											162.0	154.0	157.0					7																	116339927		1847	4105	5952	SO:0001819	synonymous_variant	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.789G>T	7.37:g.116339927G>T			A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.403	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			
MIA3	375056	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222794531	222794531	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr1:222794531A>C	ENST00000344922.5	+	2	189	c.164A>C	c.(163-165)gAt>gCt	p.D55A	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D55A|MIA3_ENST00000344507.1_Missense_Mutation_p.D55A	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	55	SH3.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.D55A(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCTCTTGAAGATTTCACAGGC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											118.0	113.0	114.0					1																	222794531		1817	4079	5896	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.164A>C	1.37:g.222794531A>C	ENSP00000340900:p.Asp55Ala		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.608497	0.87258	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.12039	2.72;2.72;2.72	5.58	5.58	0.84498	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	T	0.45276	0.1334	M	0.88640	2.97	0.53688	D	0.999972	D	0.89917	1.0	D	0.97110	1.0	T	0.54636	-0.8264	9	0.87932	D	0	.	15.726	0.77761	1.0:0.0:0.0:0.0	.	55	Q5JRA6	MIA3_HUMAN	A	55	ENSP00000340900:D55A;ENSP00000340587:D55A;ENSP00000341348:D55A	ENSP00000325973:D55A	D	+	2	0	MIA3	220861154	1.000000	0.71417	0.994000	0.49952	0.877000	0.50540	8.797000	0.91882	2.114000	0.64651	0.533000	0.62120	GAT		0.388	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4		NM_198551	
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Silent_p.E268E	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)												2	Substitution - coding silent(2)	prostate(1)|kidney(1)											19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1		NM_004535	
NTF4	4909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49564851	49564851	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:49564851T>C	ENST00000593537.1	-	1	403	c.404A>G	c.(403-405)tAc>tGc	p.Y135C	CGB7_ENST00000597853.1_5'Flank|CGB7_ENST00000356213.4_5'Flank|NTF4_ENST00000301411.3_Missense_Mutation_p.Y135C|CTB-60B18.18_ENST00000599209.1_lincRNA|NTF4_ENST00000451356.2_Intron|CTB-60B18.12_ENST00000597865.1_RNA|NTF4_ENST00000594938.1_5'Flank			P34130	NTF4_HUMAN	neurotrophin 4	135					adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)	p.Y135C(1)		kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTCAAAGAAGTACTGGCGGAG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											34.0	38.0	36.0					19																	49564851		2203	4300	6503	SO:0001583	missense	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.404A>G	19.37:g.49564851T>C	ENSP00000469455:p.Tyr135Cys		Q6FH56	Missense_Mutation	SNP	ENST00000593537.1	37	CCDS12754.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.938002	0.52972	.	.	ENSG00000167744	ENST00000301411	T	0.75704	-0.96	3.11	3.11	0.35812	Nerve growth factor-related (5);	0.095628	0.43919	D	0.000503	D	0.84106	0.5399	M	0.78049	2.395	0.48830	D	0.999714	D	0.89917	1.0	D	0.79108	0.992	D	0.85874	0.1418	10	0.87932	D	0	-14.224	11.225	0.48877	0.0:0.0:0.0:1.0	.	135	P34130	NTF4_HUMAN	C	135	ENSP00000301411:Y135C	ENSP00000301411:Y135C	Y	-	2	0	NTF4	54256663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.458000	0.45014	1.678000	0.50952	0.260000	0.18958	TAC		0.677	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466258.1		NM_006179	
OR10AD1	121275	hgsc.bcm.edu	37	12	48596875	48596876	+	Frame_Shift_Ins	INS	-	-	A	rs79650217|rs144247841	byFrequency	TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:48596875_48596876insA	ENST00000310248.2	-	1	294_295	c.200_201insT	c.(199-201)ctgfs	p.L67fs		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						CCAGGAGAGACAGATGGCCGAG	0.525													A|A|AA|insertion	1017	0.203075	0.2716	0.1326	5008	,	,		22247	0.128		0.2346	False		,,,				2504	0.2055																0										1181,3083		178,825,1129						-0.6	1.0		dbSNP_129	109	1745,6509		176,1393,2558	no	frameshift	OR10AD1	NM_001004134.1		354,2218,3687	A1A1,A1R,RR		21.1413,27.697,23.3743				2926,9592				SO:0001589	frameshift_variant	121275				CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.201dupT	12.37:g.48596876_48596876dupA	ENSP00000308689:p.Leu67fs		B9EGT9|Q6IFA8	Frame_Shift_Ins	INS	ENST00000310248.2	37	CCDS31787.1																																																																																				0.525	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			
OR2L8	391190	broad.mit.edu;hgsc.bcm.edu	37	1	248112971	248112971	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr1:248112971A>T	ENST00000357191.3	+	1	812	c.812A>T	c.(811-813)aAg>aTg	p.K271M	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K271M(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACAGAGGACAAGGTTCTGGCT	0.507																																																	1	Substitution - Missense(1)	kidney(1)											114.0	90.0	98.0					1																	248112971		2203	4298	6501	SO:0001583	missense	391190			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.812A>T	1.37:g.248112971A>T	ENSP00000349719:p.Lys271Met		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.649504	0.29336	.	.	ENSG00000196936	ENST00000357191	T	0.00198	8.57	1.8	0.49	0.16861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32836	U	0.005595	T	0.00300	0.0009	M	0.76328	2.33	0.09310	N	1	P	0.51791	0.948	P	0.55713	0.782	T	0.49133	-0.8971	10	0.40728	T	0.16	.	3.4635	0.07541	0.5534:0.2255:0.0:0.2211	.	271	Q8NGY9	OR2L8_HUMAN	M	271	ENSP00000349719:K271M	ENSP00000349719:K271M	K	+	2	0	OR2L8	246179594	.	.	0.237000	0.24090	0.765000	0.43378	.	.	-0.027000	0.13873	0.397000	0.26171	AAG		0.507	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			
PELI2	57161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	56757051	56757052	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr14:56757051_56757052GG>TT	ENST00000267460.4	+	5	859_860	c.573_574GG>TT	c.(571-576)ctGGtg>ctTTtg	p.V192L		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	192	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.L191L(1)|p.L191>?(1)|p.V192L(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						ATGGCGTCCTGGTGATGCATCC	0.559																																																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	Exception_encountered	14.37:g.56757051_56757052delinsTT	ENSP00000267460:p.Val192Leu		B2RDY5	Silent|Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1																																																																																				0.559	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			
JADE1	79960	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	129789065	129789065	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr4:129789065T>A	ENST00000226319.6	+	10	1838	c.1558T>A	c.(1558-1560)Tgc>Agc	p.C520S	PHF17_ENST00000452328.2_Missense_Mutation_p.C508S|PHF17_ENST00000512960.1_Missense_Mutation_p.C520S	NM_199320.2	NP_955352.1												p.C520S(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACGGTCTGTGTGCAAAGTCCA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											92.0	88.0	89.0					4																	129789065		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.1558T>A	4.37:g.129789065T>A	ENSP00000226319:p.Cys520Ser			Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218388	0.58560	.	.	ENSG00000077684	ENST00000226319;ENST00000452328;ENST00000512960;ENST00000535321	T;T;T	0.38560	1.13;1.13;1.13	5.28	5.28	0.74379	.	0.045905	0.85682	D	0.000000	T	0.53206	0.1782	L	0.39085	1.19	0.80722	D	1	B;D	0.76494	0.094;0.999	B;D	0.70227	0.171;0.968	T	0.49184	-0.8966	9	.	.	.	.	15.3844	0.74684	0.0:0.0:0.0:1.0	.	508;520	Q6IE81-2;Q6IE81	.;JADE1_HUMAN	S	520;508;520;520	ENSP00000226319:C520S;ENSP00000388015:C508S;ENSP00000425730:C520S	.	C	+	1	0	PHF17	130008515	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.418000	0.66429	2.210000	0.71456	0.533000	0.62120	TGC		0.403	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			
PITPNM2	57605	broad.mit.edu;hgsc.bcm.edu	37	12	123471023	123471023	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr12:123471023A>G	ENST00000542749.1	-	23	3749	c.3686T>C	c.(3685-3687)aTc>aCc	p.I1229T	PITPNM2_ENST00000320201.4_Missense_Mutation_p.I1229T|PITPNM2_ENST00000392428.1_Missense_Mutation_p.I950T|PITPNM2_ENST00000280562.5_Missense_Mutation_p.I1223T			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	1229					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.I1229T(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGGCCCACGATGTAGATCTG	0.682																																																	1	Substitution - Missense(1)	kidney(1)											20.0	18.0	19.0					12																	123471023		2198	4291	6489	SO:0001583	missense	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.3686T>C	12.37:g.123471023A>G	ENSP00000437611:p.Ile1229Thr		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	A	19.45	3.830140	0.71258	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.23	4.09	0.47781	HAD-like domain (1);LNS2, Lipin/Ned1/Smp2 (2);	0.132348	0.49916	D	0.000128	D	0.87245	0.6129	M	0.83953	2.67	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.975	D	0.87777	0.2609	10	0.72032	D	0.01	-36.2865	11.1602	0.48512	0.9273:0.0:0.0727:0.0	.	1223;1229	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	T	1223;1229;950;1229	ENSP00000280562:I1223T;ENSP00000322218:I1229T;ENSP00000376223:I950T;ENSP00000437611:I1229T	ENSP00000280562:I1223T	I	-	2	0	PITPNM2	122036976	1.000000	0.71417	0.991000	0.47740	0.961000	0.63080	5.310000	0.65780	0.955000	0.37878	0.459000	0.35465	ATC		0.682	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1		NM_020845	
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																																	0																																												29774			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G				RNA	SNP	ENST00000414583.2	37																																																																																					0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1		NM_014549	
POMT2	29954	hgsc.bcm.edu;ucsc.edu	37	14	77767444	77767445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr14:77767444_77767445insG	ENST00000261534.4	-	6	1006_1007	c.804_805insC	c.(802-807)ctcagtfs	p.S269fs	POMT2_ENST00000556880.1_5'Flank	NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	269						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AATGAAAGACTGAGGTCTCCGA	0.505											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	29954			AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.805dupC	14.37:g.77767445_77767445dupG	ENSP00000261534:p.Ser269fs	1178	Q9NSG6|Q9P1W0|Q9P1W2	Frame_Shift_Ins	INS	ENST00000261534.4	37	CCDS9857.1																																																																																				0.505	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1		NM_013382	
PPP1R13L	10848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45901534	45901534	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:45901534T>C	ENST00000418234.2	-	2	121	c.43A>G	c.(43-45)Atg>Gtg	p.M15V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.M15V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	15					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.M15V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGGAAGTTCATGTCCAGAAAG	0.711																																					Pancreas(61;1447 1663 31419 50578)												1	Substitution - Missense(1)	kidney(1)											32.0	37.0	35.0					19																	45901534		2202	4300	6502	SO:0001583	missense	10848			AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.43A>G	19.37:g.45901534T>C	ENSP00000403902:p.Met15Val		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.773611	0.31411	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.53423	0.62;0.62	4.17	-2.18	0.07037	.	0.431311	0.24350	N	0.039284	T	0.19644	0.0472	N	0.08118	0	0.19775	N	0.999957	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.001	T	0.06899	-1.0801	10	0.39692	T	0.17	.	3.7689	0.08633	0.2012:0.0:0.3091:0.4897	.	15;15	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	V	15	ENSP00000403902:M15V;ENSP00000354218:M15V	ENSP00000354218:M15V	M	-	1	0	PPP1R13L	50593374	0.967000	0.33354	0.995000	0.50966	0.798000	0.45092	-0.159000	0.10056	-0.125000	0.11703	-1.540000	0.00911	ATG		0.711	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1		NM_006663	
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38802744	38802744	+	Silent	SNP	A	A	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:38802744A>G	ENST00000449082.2	-	6	821	c.822T>C	c.(820-822)aaT>aaC	p.N274N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	274					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.N274N(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGACACATTTATTTTTGAGGT	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											127.0	108.0	114.0					3																	38802744		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.822T>C	3.37:g.38802744A>G			A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.463	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514	
SERPINB10	5273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	61600419	61600419	+	Silent	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr18:61600419C>T	ENST00000238508.3	+	7	830	c.771C>T	c.(769-771)gaC>gaT	p.D257D		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	257					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D257D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				TGCCAGAAGACATTAATGGGC	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	131.0	127.0					18																	61600419		2203	4300	6503	SO:0001819	synonymous_variant	5273			U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.771C>T	18.37:g.61600419C>T			Q4VAX4|Q4VAX7	Silent	SNP	ENST00000238508.3	37	CCDS11990.1																																																																																				0.428	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3		NM_005024	
SLIT1	6585	broad.mit.edu;hgsc.bcm.edu	37	10	98945307	98945307	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr10:98945307C>G	ENST00000266058.4	-	1	370	c.125G>C	c.(124-126)gGa>gCa	p.G42A	SLIT1_ENST00000371070.4_Missense_Mutation_p.G42A|ARHGAP19-SLIT1_ENST00000453547.2_Intron|SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.G42A	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	42	LRRNT.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G42A(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACCGTGGTTCCGGTGCAGGT	0.721																																																	1	Substitution - Missense(1)	kidney(1)											18.0	19.0	19.0					10																	98945307		2196	4284	6480	SO:0001583	missense	6585			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.125G>C	10.37:g.98945307C>G	ENSP00000266058:p.Gly42Ala		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238267	0.79800	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;D;D	0.95821	1.9;1.9;-3.82;-3.82	3.73	3.73	0.42828	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.49256	1.55	0.80722	D	1	B;B;D	0.62365	0.092;0.158;0.991	B;B;P	0.58721	0.308;0.22;0.844	D	0.94634	0.7824	10	0.35671	T	0.21	.	14.5757	0.68246	0.0:1.0:0.0:0.0	.	42;42;42	E7EWQ8;O75093-2;O75093	.;.;SLIT1_HUMAN	A	42;42;42;42;25;42;42	ENSP00000266058:G42A;ENSP00000360109:G42A;ENSP00000315005:G25A;ENSP00000360080:G42A	ENSP00000266058:G42A	G	-	2	0	SLIT1	98935297	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	6.788000	0.75105	2.055000	0.61198	0.407000	0.27541	GGA		0.721	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1		NM_003061	
SMC5	23137	broad.mit.edu;hgsc.bcm.edu	37	9	72933592	72933592	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr9:72933592G>A	ENST00000361138.5	+	14	2027	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	657					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.E657K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACACTTAGAAGAACAGCTAAA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											58.0	61.0	60.0					9																	72933592		2203	4298	6501	SO:0001583	missense	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1969G>A	9.37:g.72933592G>A	ENSP00000354957:p.Glu657Lys		A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	37	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649039	0.47362	.	.	ENSG00000198887	ENST00000361138	T	0.18338	2.22	5.71	3.79	0.43588	RecF/RecN/SMC (1);	0.289920	0.39146	N	0.001457	T	0.09512	0.0234	L	0.36672	1.1	0.43628	D	0.996019	B	0.30914	0.3	B	0.25759	0.063	T	0.09997	-1.0649	10	0.09084	T	0.74	-23.8933	5.9426	0.19201	0.1451:0.0:0.6731:0.1818	.	657	Q8IY18	SMC5_HUMAN	K	657	ENSP00000354957:E657K	ENSP00000354957:E657K	E	+	1	0	SMC5	72123412	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.669000	0.46825	2.682000	0.91365	0.585000	0.79938	GAA		0.313	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1		NM_015110	
SPATA5L1	79029	broad.mit.edu	37	15	45695510	45695510	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr15:45695510C>T	ENST00000305560.6	+	1	982	c.883C>T	c.(883-885)Cgc>Tgc	p.R295C	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R295C|GATM_ENST00000458245.5_5'Flank	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	295						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.R295C(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		ACTGGCCAGCCGCGGACCCAG	0.716																																																	1	Substitution - Missense(1)	kidney(1)											5.0	7.0	6.0					15																	45695510		2106	4134	6240	SO:0001583	missense	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.883C>T	15.37:g.45695510C>T	ENSP00000305494:p.Arg295Cys		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559097	0.65538	.	.	ENSG00000171763	ENST00000305560	D	0.95103	-3.61	4.9	2.93	0.34026	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.439680	0.23874	N	0.043709	D	0.94693	0.8288	M	0.64630	1.985	0.33129	D	0.542815	D	0.62365	0.991	P	0.59595	0.86	D	0.94473	0.7686	10	0.72032	D	0.01	-38.0285	5.9834	0.19419	0.3073:0.6009:0.0:0.0918	.	295	Q9BVQ7	SPA5L_HUMAN	C	295	ENSP00000305494:R295C	ENSP00000305494:R295C	R	+	1	0	SPATA5L1	43482802	0.994000	0.37717	0.922000	0.36590	0.564000	0.35744	2.520000	0.45554	1.289000	0.44618	-0.225000	0.12378	CGC		0.716	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1		NM_024063	
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123179154	123179154	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:123179154T>G	ENST00000371160.1	+	8	893	c.603T>G	c.(601-603)atT>atG	p.I201M	STAG2_ENST00000354548.5_Missense_Mutation_p.I132M|STAG2_ENST00000371145.3_Missense_Mutation_p.I201M|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.I201M|STAG2_ENST00000371144.3_Missense_Mutation_p.I201M|STAG2_ENST00000371157.3_Missense_Mutation_p.I201M	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	201					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.I201M(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATACAGTCATTTCACTTCTTA	0.368																																																	2	Substitution - Missense(2)	kidney(2)											181.0	173.0	176.0					X																	123179154		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.603T>G	X.37:g.123179154T>G	ENSP00000360202:p.Ile201Met		B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.329380	0.60743	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000435215	T;T;T;T;T;T;T;T	0.43688	0.94;1.48;1.48;1.48;1.48;0.94;1.48;0.94	4.74	3.58	0.41010	STAG (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	M	0.87758	2.905	0.54753	D	0.999985	D;D	0.61080	0.987;0.989	D;D	0.68943	0.935;0.961	T	0.60556	-0.7240	10	0.52906	T	0.07	-4.188	5.1471	0.14991	0.1603:0.0871:0.0:0.7527	.	201;201	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	M	201;201;132;201;201;201;201;201	ENSP00000218089:I201M;ENSP00000397265:I201M;ENSP00000346555:I132M;ENSP00000360202:I201M;ENSP00000360199:I201M;ENSP00000360187:I201M;ENSP00000360186:I201M;ENSP00000392118:I201M	ENSP00000218089:I201M	I	+	3	3	STAG2	123006835	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.643000	0.24750	0.597000	0.29811	0.345000	0.21793	ATT		0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	
STK36	27148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219561786	219561786	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:219561786G>T	ENST00000295709.3	+	23	2890	c.2611G>T	c.(2611-2613)Gat>Tat	p.D871Y	STK36_ENST00000392105.3_Missense_Mutation_p.D850Y|STK36_ENST00000392106.2_Missense_Mutation_p.D850Y|STK36_ENST00000440309.1_Missense_Mutation_p.D871Y	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.D871Y(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CCTAATCAGGGATATGTCCAG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											185.0	197.0	193.0					2																	219561786		2203	4300	6503	SO:0001583	missense	27148			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.2611G>T	2.37:g.219561786G>T	ENSP00000295709:p.Asp871Tyr			Missense_Mutation	SNP	ENST00000295709.3	37	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317759	0.23994	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	T;T;T;T	0.73047	-0.59;-0.71;-0.71;-0.59	5.12	3.31	0.37934	.	0.326007	0.21896	N	0.067504	T	0.66684	0.2814	L	0.27053	0.805	0.09310	N	0.999999	D;D;P	0.71674	0.998;0.964;0.94	P;P;B	0.57244	0.816;0.715;0.417	T	0.57027	-0.7881	10	0.62326	D	0.03	-2.9537	6.5595	0.22479	0.1624:0.1508:0.6869:0.0	.	850;850;871	A8MU99;Q9NRP7-2;Q9NRP7	.;.;STK36_HUMAN	Y	871;850;850;871	ENSP00000295709:D871Y;ENSP00000375955:D850Y;ENSP00000375954:D850Y;ENSP00000394095:D871Y	ENSP00000295709:D871Y	D	+	1	0	STK36	219270030	0.994000	0.37717	0.473000	0.27253	0.006000	0.05464	2.502000	0.45398	0.732000	0.32470	-0.878000	0.02970	GAT		0.522	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			
TAF1C	9013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84216939	84216939	+	Splice_Site	SNP	T	T	C			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr16:84216939T>C	ENST00000567759.1	-	5	501	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	TAF1C_ENST00000378541.4_Splice_Site_p.I107V|TAF1C_ENST00000341690.6_Splice_Site_p.I40V|TAF1C_ENST00000541676.1_Splice_Site_p.I40V|TAF1C_ENST00000570117.1_Intron|TAF1C_ENST00000565544.1_5'Flank|TAF1C_ENST00000566732.1_Splice_Site_p.I107V	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	107					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.I107V(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						AACCGGCTGATCTGGGGAGAA	0.617																																																	1	Substitution - Missense(1)	kidney(1)											69.0	56.0	60.0					16																	84216939		2200	4300	6500	SO:0001630	splice_region_variant	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.319-1A>G	16.37:g.84216939T>C			B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	T	11.51	1.661378	0.29515	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000537450	T;T;T	0.44083	0.93;0.93;0.93	4.93	1.81	0.25067	.	0.558317	0.15546	N	0.256668	T	0.29749	0.0743	L	0.36672	1.1	0.21915	N	0.999479	B;B;B;B	0.24920	0.048;0.048;0.114;0.048	B;B;B;B	0.24394	0.025;0.037;0.053;0.037	T	0.22556	-1.0213	10	0.59425	D	0.04	-16.8637	5.7646	0.18219	0.0942:0.0:0.547:0.3588	.	107;107;107;40	F5H7W6;Q15572-6;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	V	107;40;40;107	ENSP00000367802:I107V;ENSP00000437900:I40V;ENSP00000345305:I40V	ENSP00000345305:I40V	I	-	1	0	TAF1C	82774440	1.000000	0.71417	0.988000	0.46212	0.683000	0.39861	1.924000	0.40065	0.116000	0.18110	-0.445000	0.05633	ATC		0.617	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		NM_139353	Missense_Mutation
TCEAL2	140597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101382231	101382231	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chrX:101382231C>A	ENST00000372780.1	+	3	648	c.429C>A	c.(427-429)aaC>aaA	p.N143K	TCEAL2_ENST00000329035.2_Missense_Mutation_p.N143K	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.N143K(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAAAAACCAACAAGGGGCTGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											114.0	112.0	112.0					X																	101382231		2203	4300	6503	SO:0001583	missense	140597			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.429C>A	X.37:g.101382231C>A	ENSP00000361866:p.Asn143Lys		B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070145	0.36566	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.07567	3.18;3.18	3.43	0.619	0.17630	.	0.277746	0.25801	N	0.028216	T	0.15305	0.0369	M	0.63428	1.95	0.09310	N	1	D	0.56287	0.975	P	0.56823	0.807	T	0.05649	-1.0872	10	0.66056	D	0.02	.	5.2692	0.15615	0.0:0.5739:0.0:0.4261	.	143	Q9H3H9	TCAL2_HUMAN	K	143	ENSP00000361866:N143K;ENSP00000332359:N143K	ENSP00000332359:N143K	N	+	3	2	TCEAL2	101268887	0.410000	0.25376	0.020000	0.16555	0.796000	0.44982	0.375000	0.20518	0.005000	0.14708	-0.198000	0.12761	AAC		0.468	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1		NM_080390	
TNKS1BP1	85456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57087711	57087711	+	Silent	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr11:57087711G>A	ENST00000532437.1	-	2	881	c.570C>T	c.(568-570)aaC>aaT	p.N190N	TNKS1BP1_ENST00000358252.3_Silent_p.N190N			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	190	Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.N190N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCCATCGTGGTTAAAGGTGA	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	65.0	64.0					11																	57087711		2201	4296	6497	SO:0001819	synonymous_variant	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.570C>T	11.37:g.57087711G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	CCDS7951.1																																																																																				0.647	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396	
TTYH2	94015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72233486	72233486	+	Silent	SNP	G	G	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr17:72233486G>T	ENST00000269346.4	+	4	542	c.468G>T	c.(466-468)cgG>cgT	p.R156R	TTYH2_ENST00000529107.1_Silent_p.R135R	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	156						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.R156R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCTGGCCCGGCTCAGTGAGA	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	94.0	93.0					17																	72233486		2203	4300	6503	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.468G>T	17.37:g.72233486G>T			B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.577	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			
VHL	7428	hgsc.bcm.edu	37	3	10183748	10183748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr3:10183748C>T	ENST00000256474.2	+	1	1057	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.Q73*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	73			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.Q73*(5)|p.Q73fs*86(2)|p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S72>?(1)|p.P71fs*56(1)|p.V74fs*58(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGCCCTCCCAGGTCATCTT	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	16	Deletion - Frameshift(7)|Substitution - Nonsense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)	kidney(15)|soft_tissue(1)	GRCh37	CM951269|HD971372	VHL	D|M							10.0	13.0	12.0					3																	10183748		2149	4222	6371	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.217C>T	3.37:g.10183748C>T	ENSP00000256474:p.Gln73*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	36	5.850028	0.97023	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.43	4.37	0.52481	.	0.577737	0.18941	N	0.126935	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-4.8227	12.3925	0.55366	0.0:0.9041:0.0:0.0959	.	.	.	.	X	73	.	ENSP00000256474:Q73X	Q	+	1	0	VHL	10158748	0.804000	0.28969	1.000000	0.80357	0.981000	0.71138	1.185000	0.32065	2.558000	0.86282	0.550000	0.68814	CAG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VLDLR	7436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2646492	2646492	+	Missense_Mutation	SNP	A	A	C	rs148487944		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr9:2646492A>C	ENST00000382100.3	+	11	1999	c.1643A>C	c.(1642-1644)aAg>aCg	p.K548T	VLDLR_ENST00000478776.1_3'UTR|VLDLR_ENST00000382099.2_Missense_Mutation_p.K548T	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	548					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.K548T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ACCAAGAGGAAGTTCCTGTTT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											115.0	107.0	110.0					9																	2646492		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.1643A>C	9.37:g.2646492A>C	ENSP00000371532:p.Lys548Thr		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	18.85	3.711390	0.68730	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.93426	-3.22;-3.22	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.53938	D	0.000052	D	0.94555	0.8246	M	0.63428	1.95	0.80722	D	1	B;B;B	0.27068	0.138;0.167;0.098	B;P;P	0.47430	0.411;0.547;0.487	D	0.91936	0.5559	10	0.28530	T	0.3	.	12.361	0.55203	0.8593:0.1407:0.0:0.0	.	548;548;548	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	T	548;548;427	ENSP00000371532:K548T;ENSP00000371531:K548T	ENSP00000371524:K427T	K	+	2	0	VLDLR	2636492	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.140000	0.71738	2.206000	0.71126	0.454000	0.30748	AAG		0.478	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2		NM_003383	
XRCC5	7520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	217005911	217005911	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr2:217005911G>A	ENST00000392133.3	+	15	1806	c.1345G>A	c.(1345-1347)Gca>Aca	p.A449T	XRCC5_ENST00000392132.2_Missense_Mutation_p.A449T|XRCC5_ENST00000471649.1_3'UTR			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	449	Ku.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.A449T(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGTTTAAGAGGCACAGTTGAA	0.393								Non-homologous end-joining																																									1	Substitution - Missense(1)	kidney(1)											135.0	139.0	137.0					2																	217005911		2203	4300	6503	SO:0001583	missense	7520			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1345G>A	2.37:g.217005911G>A	ENSP00000375978:p.Ala449Thr		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843818	0.16963	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31769	1.48;1.48	5.6	5.6	0.85130	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);DNA helicase, ATP-dependent, Ku type (1);Ku70/Ku80 C-terminal arm (1);	0.424346	0.25475	N	0.030418	T	0.25975	0.0633	L	0.38175	1.15	0.44728	D	0.997728	B	0.24721	0.11	B	0.20767	0.031	T	0.03008	-1.1083	10	0.48119	T	0.1	.	13.1766	0.59630	0.0:0.0:0.8404:0.1596	.	449	P13010	XRCC5_HUMAN	T	449	ENSP00000375978:A449T;ENSP00000375977:A449T	ENSP00000375977:A449T	A	+	1	0	XRCC5	216714156	1.000000	0.71417	0.989000	0.46669	0.308000	0.27856	2.613000	0.46351	2.636000	0.89361	0.655000	0.94253	GCA		0.393	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3		NM_021141	
ZNF274	10782	hgsc.bcm.edu	37	19	58718360	58718361	+	Splice_Site	INS	-	-	G	rs59557917|rs373818336		TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr19:58718360_58718361insG	ENST00000326804.4	+	5	989_990	c.530_531insG	c.(529-534)gagctg>gaGgctg	p.L178fs	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Splice_Site_p.L146fs|ZNF274_ENST00000424679.2_Splice_Site_p.L73fs	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	179	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGTCCCCGGGAGCCCTGGACCA	0.624													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		19007	1.0		1.0	False		,,,				2504	1.0																0									,,	4263,1		2131,1,0					,,	2.7	0.1		dbSNP_131	18	8242,4		4119,4,0	no	frameshift,frameshift,frameshift	ZNF274	NM_133502.1,NM_016325.2,NM_016324.2	,,	6250,5,0	A1A1,A1R,RR		0.0485,0.0235,0.04	,,	,,		12505,5				SO:0001630	splice_region_variant	10782			AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000326804.4:c.531+1->G	19.37:g.58718361_58718361dupG			Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Frame_Shift_Ins	INS	ENST00000326804.4	37																																																																																					0.624	ZNF274-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_133502	Frame_Shift_Ins
ZNF423	23090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	49670844	49670844	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr16:49670844G>A	ENST00000561648.1	-	4	2272	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	ZNF423_ENST00000562520.1_Missense_Mutation_p.A680V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A623V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A740V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A680V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A623V|ZNF423_ENST00000563137.2_Missense_Mutation_p.A680V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	740					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A740V(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGCTTCACCGCCAGGTGCAC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											108.0	97.0	100.0					16																	49670844		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2219C>T	16.37:g.49670844G>A	ENSP00000455426:p.Ala740Val		O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941727	0.53079	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10668	2.85;2.88	5.05	5.05	0.67936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.105029	0.64402	D	0.000004	T	0.23965	0.0580	L	0.33668	1.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01692	-1.1294	9	.	.	.	.	18.4141	0.90562	0.0:0.0:1.0:0.0	.	740	Q2M1K9	ZN423_HUMAN	V	740;623	ENSP00000262383:A740V;ENSP00000442321:A623V	.	A	-	2	0	ZNF423	48228345	1.000000	0.71417	0.948000	0.38648	0.464000	0.32679	9.869000	0.99810	2.352000	0.79861	0.561000	0.74099	GCG		0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1		NM_015069	
ZWINT	11130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	58120095	58120095	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4916-01A-01D-1429-08	TCGA-CJ-4916-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	81b0e02c-069c-4c4b-b56f-79c2ebec9927	c417619d-5a8f-4c6d-9df7-056f08fef794	g.chr10:58120095C>G	ENST00000373944.3	-	2	129	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	ZWINT_ENST00000361148.6_Missense_Mutation_p.E31Q|ZWINT_ENST00000460654.1_5'Flank|ZWINT_ENST00000395405.1_Missense_Mutation_p.E31Q|ZWINT_ENST00000318387.2_5'Flank			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	31					establishment of localization in cell (GO:0051649)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|kinetochore (GO:0000776)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)	p.E31Q(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGTTCTGCCTCCTCCTGCAGG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											68.0	62.0	64.0					10																	58120095		2203	4300	6503	SO:0001583	missense	11130			AF067656	CCDS7249.1, CCDS31205.1	10q21-q22	2013-05-01	2013-05-01		ENSG00000122952	ENSG00000122952			13195	protein-coding gene	gene with protein product		609177	"""ZW10 interactor"""				Standard	XM_005269463		Approved	KNTC2AP	uc001jka.1	O95229	OTTHUMG00000018261	ENST00000373944.3:c.91G>C	10.37:g.58120095C>G	ENSP00000363055:p.Glu31Gln		A6NNV6|Q0D2I3|Q9BWD0	Missense_Mutation	SNP	ENST00000373944.3	37	CCDS7249.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448610	0.43531	.	.	ENSG00000122952	ENST00000373944;ENST00000395405;ENST00000373940;ENST00000361148	T;T;T	0.59364	0.27;0.27;0.27	4.69	3.78	0.43462	.	0.136347	0.33610	N	0.004725	T	0.61751	0.2372	M	0.62723	1.935	0.28373	N	0.919893	D;D	0.57257	0.979;0.979	P;P	0.51615	0.675;0.675	T	0.60125	-0.7324	10	0.66056	D	0.02	-13.4756	9.7116	0.40249	0.0:0.8999:0.0:0.1001	.	31;31	A6NNV6;O95229	.;ZWINT_HUMAN	Q	31	ENSP00000363055:E31Q;ENSP00000378801:E31Q;ENSP00000354921:E31Q	ENSP00000354921:E31Q	E	-	1	0	ZWINT	57790101	0.996000	0.38824	0.518000	0.27811	0.134000	0.20937	3.652000	0.54439	1.282000	0.44496	0.650000	0.86243	GAG		0.547	ZWINT-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048132.1			
