#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFH	3075	broad.mit.edu	37	1	196658724	196658724	+	Missense_Mutation	SNP	C	C	T	rs533322868		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:196658724C>T	ENST00000359637.2	+	7	1009	c.947C>T	c.(946-948)tCg>tTg	p.S316L	CFH_ENST00000367429.4_Missense_Mutation_p.S380L|CFH_ENST00000439155.2_Missense_Mutation_p.S380L			P08603	CFAH_HUMAN	complement factor H	380	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GATGGATGGTCGCCAGCAGTA	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		13905	0.0		0.0	False		,,,				2504	0.001					ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1138-1140)tCg>tTg		complement factor H							110.0	108.0	109.0					1																	196658724		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658724C>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.947C>T	1.37:g.196658724C>T	ENSP00000352658:p.Ser316Leu					CFH_ENST00000359637.2_Missense_Mutation_p.S316L|CFH_ENST00000439155.2_Missense_Mutation_p.S380L	p.S380L	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1379	+			380			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1139C>T		.	.	.	.	.	.	.	.	.	.	C	15.49	2.848074	0.51164	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.69175	-0.38;-0.38;-0.38	5.61	-3.72	0.04411	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.76321	0.3971	M	0.82193	2.58	0.09310	N	1	D;D;B;P	0.71674	0.998;0.963;0.281;0.836	D;P;B;B	0.83275	0.996;0.589;0.09;0.403	T	0.64884	-0.6302	9	0.42905	T	0.14	.	4.2915	0.10881	0.4031:0.2921:0.0:0.3048	.	316;380;380;380	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	L	380;380;380;316	ENSP00000356399:S380L;ENSP00000402656:S380L;ENSP00000352658:S316L	ENSP00000352658:S316L	S	+	2	0	CFH	194925347	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.913000	0.04042	-0.481000	0.06792	0.655000	0.94253	TCG		0.393	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		55	9	0	0	0	1	0	55	9				
OCRL	4952	broad.mit.edu	37	X	128679013	128679013	+	Splice_Site	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:128679013A>C	ENST00000371113.4	+	3	363	c.198A>C	c.(196-198)caA>caC	p.Q66H	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Splice_Site_p.Q66H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	66	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GATGTGTTCAAGGTACTAGCT	0.333																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.e3+1		oculocerebrorenal syndrome of Lowe							151.0	132.0	139.0					X																	128679013		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128679013A>C	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.199+1A>C	X.37:g.128679013A>C						OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Splice_Site_p.Q66_splice	p.Q66_splice	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			3	363	+			66					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	SNP	ENST00000371113.4	37	c.199_splice	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.027400	0.75390	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.45;-3.45	5.36	5.36	0.76844	.	0.145098	0.48767	D	0.000169	D	0.94000	0.8078	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.973	D;P	0.63113	0.911;0.751	D	0.93942	0.7224	10	0.56958	D	0.05	.	10.6368	0.45569	1.0:0.0:0.0:0.0	.	66;66	Q01968-2;Q01968	.;OCRL_HUMAN	H	66	ENSP00000360154:Q66H;ENSP00000349635:Q66H	ENSP00000349635:Q66H	Q	+	3	2	OCRL	128506694	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.786000	0.62425	1.780000	0.52325	0.417000	0.27973	CAA		0.333	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Missense_Mutation	23	2	0	0	0	1	0	23	2				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905291	74905291	+	Missense_Mutation	SNP	G	G	A	rs148931950	byFrequency	TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:74905291G>A	ENST00000370899.3	+	22	2336	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A767T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A666T|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A780T	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		AATTCCATTCGCTCATCTCAA	0.408													G|||	11	0.00219649	0.0068	0.0029	5008	,	,		19481	0.0		0.0	False		,,,				2504	0.0					ENST00000370891.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						c.(2299-2301)Gct>Act		TNNI3 interacting kinase		G	THR/ALA,THR/ALA,THR/ALA	30,4376	36.0+/-67.5	0,30,2173	126.0	109.0	115.0		2299,2299,1996	4.9	1.0	1	dbSNP_134	115	0,8600		0,0,4300	yes	missense,missense,missense	TNNI3K,FPGT-TNNI3K	NM_001112808.2,NM_001199327.1,NM_015978.2	58,58,58	0,30,6473	AA,AG,GG		0.0,0.6809,0.2307	probably-damaging,probably-damaging,probably-damaging	767/937,767/844,666/836	74905291	30,12976	2203	4300	6503	SO:0001583	missense	51086							g.chr1:74905291G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.2299G>A	1.37:g.74905291G>A	ENSP00000359936:p.Ala767Thr					FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A767T|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A767T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A666T	p.A767T	NM_001112808.2	NP_001106279.1					22	2315	+									Missense_Mutation	SNP	ENST00000370899.3	37	c.2299G>A		6	0.0027472527472527475	4	0.008130081300813009	2	0.0055248618784530384	0	0.0	0	0.0	G	27.6	4.846938	0.91277	0.006809	0.0	ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000557284;ENST00000370891;ENST00000326637	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.87	4.94	0.65067	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053866	0.64402	D	0.000001	T	0.81079	0.4748	L	0.33339	1.005	0.58432	D	0.999996	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.60541	0.876;0.848;0.803	T	0.83220	-0.0069	10	0.49607	T	0.09	.	16.2433	0.82426	0.0:0.0:0.8662:0.1338	.	666;767;767	Q59H18;Q59H18-1;Q59H18-4	TNI3K_HUMAN;.;.	T	767;767;767;666	ENSP00000359936:A767T;ENSP00000450895:A767T;ENSP00000359928:A767T;ENSP00000322251:A666T	ENSP00000322251:A666T	A	+	1	0	RP11-653A5.2;AC093158.1	74677879	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.226000	0.65299	1.442000	0.47568	0.484000	0.47621	GCT		0.408	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			28	53	0	0	0	1	0	28	53				
CD8B	926	broad.mit.edu	37	2	87085245	87085245	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:87085245A>C	ENST00000390655.6	-	2	396	c.338T>G	c.(337-339)aTc>aGc	p.I113S	CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S|CD8B_ENST00000349455.3_Missense_Mutation_p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	113	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GCAGAAGTAGATGCCACTGTC	0.542																																						ENST00000390655.6																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						c.(337-339)aTc>aGc		CD8b molecule							120.0	112.0	114.0					2																	87085245		2203	4300	6503	SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87085245A>C		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.338T>G	2.37:g.87085245A>C	ENSP00000375070:p.Ile113Ser					CD8B_ENST00000349455.3_Missense_Mutation_p.I113S|CD8B_ENST00000393761.2_Missense_Mutation_p.I113S|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000331469.2_Missense_Mutation_p.I113S|CD8B_ENST00000393759.2_Missense_Mutation_p.I113S	p.I113S	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN			2	396	-			113			Ig-like V-type.		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	ENST00000390655.6	37	c.338T>G	CCDS1997.1	.	.	.	.	.	.	.	.	.	.	A	6.100	0.386806	0.11524	.	.	ENSG00000172116	ENST00000393761;ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.55	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.869934	0.10257	N	0.696449	T	0.54870	0.1885	L	0.38175	1.15	0.80722	D	1	B;B;B;B;B;B	0.32573	0.376;0.245;0.245;0.228;0.274;0.307	B;B;B;B;B;B	0.31101	0.124;0.124;0.124;0.058;0.079;0.076	T	0.50466	-0.8825	10	0.87932	D	0	-3.495	7.062	0.25131	0.8942:0.0:0.1058:0.0	.	113;113;113;113;113;113	Q496E2;Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;.;CD8B_HUMAN;.;.;.	S	113	ENSP00000377358:I113S;ENSP00000377356:I113S;ENSP00000340592:I113S;ENSP00000331172:I113S;ENSP00000375070:I113S	ENSP00000331172:I113S	I	-	2	0	CD8B	86938756	0.004000	0.15560	0.647000	0.29507	0.050000	0.14768	-0.333000	0.07894	0.613000	0.30089	-0.388000	0.06559	ATC		0.542	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099		40	33	0	0	0	1	0	40	33				
ESCO2	157570	broad.mit.edu	37	8	27650318	27650318	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:27650318C>A	ENST00000305188.8	+	9	1725	c.1487C>A	c.(1486-1488)cCc>cAc	p.P496H	ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	496					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ATTGCAGAACCCATCAAACAG	0.328									SC Phocomelia syndrome																													ENST00000305188.8																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1486-1488)cCc>cAc		establishment of sister chromatid cohesion N-acetyltransferase 2							45.0	46.0	46.0					8																	27650318		2203	4292	6495	SO:0001583	missense	157570	SC Phocomelia syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27650318C>A	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1487C>A	8.37:g.27650318C>A	ENSP00000306999:p.Pro496His					ESCO2_ENST00000397418.2_Missense_Mutation_p.P144H	p.P496H	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	9	1725	+		Ovarian(32;0.000953)	496					B3KW59|Q49AP4	Missense_Mutation	SNP	ENST00000305188.8	37	c.1487C>A	CCDS34872.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264657	0.59431	.	.	ENSG00000171320	ENST00000305188;ENST00000397418	T;T	0.72835	-0.14;-0.69	5.82	3.81	0.43845	.	0.513960	0.22200	N	0.063252	T	0.50086	0.1595	N	0.17312	0.475	0.42008	D	0.99092	P	0.35507	0.506	B	0.30782	0.12	T	0.53027	-0.8496	10	0.37606	T	0.19	-9.848	10.8377	0.46696	0.1432:0.7179:0.1389:0.0	.	496	Q56NI9	ESCO2_HUMAN	H	496;144	ENSP00000306999:P496H;ENSP00000380563:P144H	ENSP00000306999:P496H	P	+	2	0	ESCO2	27706237	0.868000	0.29978	1.000000	0.80357	0.995000	0.86356	0.766000	0.26560	2.755000	0.94549	0.591000	0.81541	CCC		0.328	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		14	8	1	0	1.52009e-12	1	1.81242e-12	14	8				
S1PR4	8698	broad.mit.edu	37	19	3179719	3179719	+	Missense_Mutation	SNP	G	G	T	rs373798403		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:3179719G>T	ENST00000246115.3	+	1	984	c.929G>T	c.(928-930)cGc>cTc	p.R310L		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	310					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						TACTCCTTCCGCAGCAGGGAG	0.692																																					GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(928-930)cGc>cTc		sphingosine-1-phosphate receptor 4							65.0	65.0	65.0					19																	3179719		2203	4300	6503	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179719G>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.929G>T	19.37:g.3179719G>T	ENSP00000246115:p.Arg310Leu						p.R310L	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	984	+			310					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.929G>T	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897332	0.52121	.	.	ENSG00000125910	ENST00000246115	T	0.36699	1.24	4.23	3.19	0.36642	.	0.146689	0.46442	D	0.000294	T	0.25754	0.0627	L	0.29908	0.895	0.45567	D	0.998516	P	0.37276	0.589	B	0.35182	0.197	T	0.06752	-1.0809	10	0.66056	D	0.02	.	10.763	0.46277	0.096:0.0:0.904:0.0	.	310	O95977	S1PR4_HUMAN	L	310	ENSP00000246115:R310L	ENSP00000246115:R310L	R	+	2	0	S1PR4	3130719	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.664000	0.54525	0.781000	0.33589	0.462000	0.41574	CGC		0.692	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		46	31	1	0	2.01807e-28	1	2.50241e-28	46	31				
VAV1	7409	broad.mit.edu	37	19	6854100	6854100	+	Silent	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:6854100C>A	ENST00000602142.1	+	26	2557	c.2475C>A	c.(2473-2475)atC>atA	p.I825I	VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000539284.1_Silent_p.I728I|VAV1_ENST00000304076.2_Silent_p.I803I|VAV1_ENST00000599806.1_Silent_p.I770I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	825	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GAGGGGAGATCTATGGCCGGG	0.612																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2407-2409)atC>atA		vav 1 guanine nucleotide exchange factor							77.0	67.0	70.0					19																	6854100		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6854100C>A		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2475C>A	19.37:g.6854100C>A						VAV1_ENST00000602142.1_Silent_p.I825I|VAV1_ENST00000599806.1_Silent_p.I770I|VAV1_ENST00000596764.1_Silent_p.I793I|VAV1_ENST00000539284.1_Silent_p.I728I	p.I803I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2503	+			825			SH3 2.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.2409C>A	CCDS12174.1																																																																																				0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			3	40	1	0	6.4e-05	1	6.84138e-05	3	40				
PPM1B	5495	broad.mit.edu	37	2	44445160	44445160	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:44445160G>A	ENST00000282412.4	+	4	1431	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	PPM1B_ENST00000345249.4_Missense_Mutation_p.R53H|PPM1B_ENST00000409432.3_Missense_Mutation_p.R340H|PPM1B_ENST00000378551.2_Missense_Mutation_p.R340H|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	340					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTCATGCGCATCTTGTCT	0.403																																						ENST00000378551.2																			0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(1018-1020)cGc>cAc		protein phosphatase, Mg2+/Mn2+ dependent, 1B							84.0	88.0	87.0					2																	44445160		2203	4300	6503	SO:0001583	missense	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44445160G>A	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.1019G>A	2.37:g.44445160G>A	ENSP00000282412:p.Arg340His					PPM1B_ENST00000409432.3_Missense_Mutation_p.R340H|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.R53H|PPM1B_ENST00000282412.4_Missense_Mutation_p.R340H	p.R340H	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN			4	1431	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	340					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	SNP	ENST00000282412.4	37	c.1019G>A	CCDS1817.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127907	0.77549	.	.	ENSG00000138032	ENST00000419807;ENST00000409432;ENST00000282412;ENST00000378551;ENST00000345249;ENST00000409473	T;T;T;T;T	0.33216	1.87;1.87;1.77;1.87;1.42	5.6	5.6	0.85130	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.047272	0.85682	D	0.000000	T	0.29684	0.0741	L	0.37750	1.13	0.80722	D	1	B;B;B;B	0.15719	0.005;0.002;0.003;0.014	B;B;B;B	0.08055	0.003;0.001;0.002;0.003	T	0.02639	-1.1130	10	0.42905	T	0.14	-11.6188	19.9737	0.97296	0.0:0.0:1.0:0.0	.	340;340;340;340	Q4J6C0;O75688-2;Q4J6C1;O75688	.;.;.;PPM1B_HUMAN	H	340;340;340;340;53;265	ENSP00000390087:R340H;ENSP00000387287:R340H;ENSP00000282412:R340H;ENSP00000367813:R340H;ENSP00000386982:R265H	ENSP00000282412:R340H	R	+	2	0	PPM1B	44298664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.793000	0.96121	0.591000	0.81541	CGC		0.403	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		3	53	0	0	0	1	0	3	53				
VRTN	55237	broad.mit.edu	37	14	74824966	74824966	+	Missense_Mutation	SNP	C	C	T	rs144045913		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:74824966C>T	ENST00000256362.4	+	2	1721	c.1480C>T	c.(1480-1482)Ccc>Tcc	p.P494S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	494					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCCGCCCCCGGGGAGCT	0.652																																						ENST00000256362.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1480-1482)Ccc>Tcc		vertebrae development associated		C	SER/PRO	0,4396		0,0,2198	30.0	37.0	34.0		1480	-1.3	0.0	14	dbSNP_134	34	1,8575		0,1,4287	no	missense	VRTN	NM_018228.2	74	0,1,6485	TT,TC,CC		0.0117,0.0,0.0077	benign	494/703	74824966	1,12971	2198	4288	6486	SO:0001583	missense	55237				transposition, DNA-mediated		DNA binding|transposase activity	g.chr14:74824966C>T	AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1480C>T	14.37:g.74824966C>T	ENSP00000256362:p.Pro494Ser						p.P494S	NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN			2	1721	+			494					Q9NVC7	Missense_Mutation	SNP	ENST00000256362.4	37	c.1480C>T	CCDS9830.1	.	.	.	.	.	.	.	.	.	.	C	4.507	0.094074	0.08632	0.0	1.17E-4	ENSG00000133980	ENST00000256362	T	0.39787	1.06	4.19	-1.31	0.09230	.	0.394257	0.24447	N	0.038456	T	0.17152	0.0412	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.24905	-1.0147	10	0.08179	T	0.78	-7.2282	5.9701	0.19346	0.0:0.3418:0.3539:0.3043	.	494	Q9H8Y1	VRTN_HUMAN	S	494	ENSP00000256362:P494S	ENSP00000256362:P494S	P	+	1	0	VRTN	73894719	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	-0.874000	0.04210	0.066000	0.16515	0.491000	0.48974	CCC		0.652	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412339.1	NM_018228		16	39	0	0	0	1	0	16	39				
PIWIL1	9271	broad.mit.edu	37	12	130851735	130851735	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130851735G>C	ENST00000245255.3	+	19	2525	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	751	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TTTTTGCTCAGTCTGGAGGAA	0.398																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(2251-2253)caG>caC		piwi-like RNA-mediated gene silencing 1							167.0	153.0	158.0					12																	130851735		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130851735G>C	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2253G>C	12.37:g.130851735G>C	ENSP00000245255:p.Gln751His					PIWIL1_ENST00000541480.1_3'UTR	p.Q751H	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	19	2525	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		751			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.2253G>C	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126999	0.37533	.	.	ENSG00000125207	ENST00000245255	T	0.31510	1.49	5.78	3.98	0.46160	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.437390	0.26207	N	0.025708	T	0.19604	0.0471	L	0.28274	0.84	0.34223	D	0.67563	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.003	T	0.12451	-1.0547	10	0.48119	T	0.1	-19.3782	6.563	0.22497	0.1479:0.0:0.7071:0.1449	.	751;751	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	751	ENSP00000245255:Q751H	ENSP00000245255:Q751H	Q	+	3	2	PIWIL1	129417688	0.002000	0.14202	1.000000	0.80357	0.988000	0.76386	0.091000	0.15046	0.805000	0.34159	0.591000	0.81541	CAG		0.398	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			40	46	0	0	0	1	0	40	46				
MYH1	4619	broad.mit.edu	37	17	10399704	10399704	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:10399704C>A	ENST00000226207.5	-	34	4913	c.4819G>T	c.(4819-4821)Gct>Tct	p.A1607S	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1607					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGATCTCAGCATCCAGTGTG	0.463																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(4819-4821)Gct>Tct		myosin, heavy chain 1, skeletal muscle, adult							261.0	228.0	239.0					17																	10399704		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399704C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4819G>T	17.37:g.10399704C>A	ENSP00000226207:p.Ala1607Ser					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1607S	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			34	4913	-			1607					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4819G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775458	0.31411	.	.	ENSG00000109061	ENST00000226207	T	0.78364	-1.17	5.42	5.42	0.78866	Myosin tail (1);	0.000000	0.42964	U	0.000638	T	0.70343	0.3213	L	0.31420	0.93	0.48975	D	0.999733	B	0.21147	0.052	B	0.26517	0.07	T	0.63532	-0.6616	10	0.20046	T	0.44	.	19.573	0.95428	0.0:1.0:0.0:0.0	.	1607	P12882	MYH1_HUMAN	S	1607	ENSP00000226207:A1607S	ENSP00000226207:A1607S	A	-	1	0	MYH1	10340429	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	2.721000	0.47260	2.687000	0.91594	0.655000	0.94253	GCT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		27	95	1	0	1.12875e-08	1	1.27241e-08	27	95				
KIAA1755	85449	broad.mit.edu	37	20	36855562	36855562	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr20:36855562G>A	ENST00000279024.4	-	7	2317	c.2046C>T	c.(2044-2046)gaC>gaT	p.D682D		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	682										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCACCTGGACGTCAGGTAATG	0.587																																						ENST00000279024.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54						c.(2044-2046)gaC>gaT		KIAA1755							38.0	37.0	37.0					20																	36855562		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36855562G>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2046C>T	20.37:g.36855562G>A							p.D682D	NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN			7	2317	-		Myeloproliferative disorder(115;0.00874)	682					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2046C>T	CCDS33467.1																																																																																				0.587	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		6	16	0	0	0	1	0	6	16				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGGTTCATGCCGCCCATGCA	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D	p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	37	0	0	0	1	0	3	37				
ZNF77	58492	broad.mit.edu	37	19	2934177	2934177	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:2934177C>T	ENST00000314531.4	-	4	1040	c.948G>A	c.(946-948)agG>agA	p.R316R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	316					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGTGTGCGTCCTCACGTGAT	0.458																																						ENST00000314531.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17						c.(946-948)agG>agA		zinc finger protein 77							166.0	150.0	155.0					19																	2934177		2203	4300	6503	SO:0001819	synonymous_variant	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934177C>T	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.948G>A	19.37:g.2934177C>T							p.R316R	NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1040	-			316					Q86XJ3|Q9NPP0	Silent	SNP	ENST00000314531.4	37	c.948G>A	CCDS12099.1																																																																																				0.458	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		46	53	0	0	0	1	0	46	53				
KIF5A	3798	broad.mit.edu	37	12	57972038	57972038	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:57972038C>T	ENST00000455537.2	+	23	2725	c.2451C>T	c.(2449-2451)ccC>ccT	p.P817P	KIF5A_ENST00000286452.5_Silent_p.P728P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	817					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAATGGAGCCCGAAGACAGTG	0.512																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(2449-2451)ccC>ccT		kinesin family member 5A							98.0	97.0	97.0					12																	57972038		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57972038C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2451C>T	12.37:g.57972038C>T						KIF5A_ENST00000286452.5_Silent_p.P728P	p.P817P	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			23	2725	+			817					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2451C>T	CCDS8945.1																																																																																				0.512	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		7	100	0	0	0	1	0	7	100				
ZNF786	136051	broad.mit.edu	37	7	148768340	148768340	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:148768340C>T	ENST00000491431.1	-	4	1588	c.1524G>A	c.(1522-1524)ccG>ccA	p.P508P	ZNF786_ENST00000316286.9_Silent_p.P422P|ZNF786_ENST00000451334.3_Silent_p.P471P	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	508					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TACAGGAGAACGGCCTCTCCC	0.642																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1264-1266)ccG>ccA		zinc finger protein 786							31.0	37.0	35.0					7																	148768340		2108	4246	6354	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148768340C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1524G>A	7.37:g.148768340C>T						ZNF786_ENST00000491431.1_Silent_p.P508P|ZNF786_ENST00000451334.3_Silent_p.P471P	p.P422P			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1538	-	Melanoma(164;0.15)		508					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1266G>A	CCDS47738.1																																																																																				0.642	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		5	47	0	0	0	1	0	5	47				
NOB1	28987	broad.mit.edu	37	16	69786182	69786182	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:69786182A>G	ENST00000268802.5	-	3	318	c.289T>C	c.(289-291)Ttt>Ctt	p.F97L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	97	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCCAACAAACTCTGCTTCC	0.433																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(289-291)Ttt>Ctt		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)							171.0	164.0	166.0					16																	69786182		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69786182A>G	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.289T>C	16.37:g.69786182A>G	ENSP00000268802:p.Phe97Leu						p.F97L	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			3	318	-			97			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.289T>C	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	A	9.399	1.077474	0.20227	.	.	ENSG00000141101	ENST00000268802	T	0.27890	1.64	5.21	4.1	0.47936	Nucleotide binding protein, PINc (1);	1.962480	0.01889	N	0.038403	T	0.11836	0.0288	N	0.01228	-0.945	0.23546	N	0.997446	B	0.02656	0.0	B	0.01281	0.0	T	0.32241	-0.9914	9	.	.	.	.	3.8791	0.09071	0.6313:0.0:0.1623:0.2064	.	97	Q9ULX3	NOB1_HUMAN	L	97	ENSP00000268802:F97L	.	F	-	1	0	NOB1	68343683	0.977000	0.34250	0.956000	0.39512	0.992000	0.81027	1.444000	0.35068	2.077000	0.62373	0.533000	0.62120	TTT		0.433	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		8	52	0	0	0	1	0	8	52				
SERPINA9	327657	broad.mit.edu	37	14	94929536	94929536	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr14:94929536G>T	ENST00000380365.3	-	5	1226	c.1148C>A	c.(1147-1149)tCt>tAt	p.S383Y	SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y|SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000337425.5_Missense_Mutation_p.S401Y|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	383					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGTGAAGTAAGAGGGGCCATC	0.488																																						ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(1201-1203)tCt>tAt		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							153.0	154.0	154.0					14																	94929536		2079	4196	6275	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94929536G>T	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.1148C>A	14.37:g.94929536G>T	ENSP00000369723:p.Ser383Tyr					SERPINA9_ENST00000424550.2_Missense_Mutation_p.S252Y|SERPINA9_ENST00000298845.7_Missense_Mutation_p.S301Y|SERPINA9_ENST00000380365.3_Missense_Mutation_p.S383Y|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.S303Y	p.S401Y	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	5	1276	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	383					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.1202C>A		.	.	.	.	.	.	.	.	.	.	G	14.20	2.465925	0.43839	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365	D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97	4.21	0.0189	0.14118	.	1.073310	0.07570	U	0.918416	T	0.80660	0.4665	L	0.47190	1.495	0.09310	N	1	P;B;P	0.50156	0.801;0.064;0.932	P;B;P	0.50659	0.476;0.064;0.647	T	0.66217	-0.5979	10	0.02654	T	1	.	5.4523	0.16572	0.2614:0.0:0.597:0.1416	.	303;401;301	Q86WD7-6;Q86WD7-7;Q86WD7-2	.;.;.	Y	303;301;252;401;383	ENSP00000414092:S303Y;ENSP00000298845:S301Y;ENSP00000409012:S252Y;ENSP00000337133:S401Y;ENSP00000369723:S383Y	ENSP00000298845:S301Y	S	-	2	0	SERPINA9	93999289	0.000000	0.05858	0.004000	0.12327	0.132000	0.20833	-0.802000	0.04545	0.184000	0.20083	0.561000	0.74099	TCT		0.488	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		8	48	1	0	0.000157383	1	0.000162629	8	48				
SNX4	8723	broad.mit.edu	37	3	125176113	125176113	+	Silent	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:125176113A>G	ENST00000251775.4	-	11	1065	c.1041T>C	c.(1039-1041)acT>acC	p.T347T	SNX4_ENST00000536067.1_Silent_p.T202T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	347					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TACTCACCCCAGTTACCAGTT	0.473																																						ENST00000251775.4																			0				breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(1039-1041)acT>acC		sorting nexin 4							172.0	140.0	151.0					3																	125176113		2203	4300	6503	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125176113A>G	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1041T>C	3.37:g.125176113A>G						SNX4_ENST00000536067.1_Silent_p.T202T	p.T347T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			11	1065	-			347					B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.1041T>C	CCDS3032.1																																																																																				0.473	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		4	57	0	0	0	1	0	4	57				
PIWIL1	9271	broad.mit.edu	37	12	130841508	130841508	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:130841508G>T	ENST00000245255.3	+	13	1722	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	484					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AGAAACAAGAGGTGCACCATT	0.353																																						ENST00000245255.3																			0				breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57						c.(1450-1452)Ggt>Tgt		piwi-like RNA-mediated gene silencing 1							103.0	95.0	98.0					12																	130841508		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130841508G>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.1450G>T	12.37:g.130841508G>T	ENSP00000245255:p.Gly484Cys						p.G484C	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	13	1722	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		484					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1450G>T	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998547	0.74818	.	.	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.41	4.51	0.55191	Ribonuclease H-like (1);	0.046949	0.85682	D	0.000000	T	0.34337	0.0894	M	0.72118	2.19	0.53688	D	0.999977	D;D	0.76494	0.996;0.999	P;D	0.68621	0.784;0.959	T	0.04693	-1.0933	10	0.62326	D	0.03	-17.2893	13.6369	0.62227	0.0762:0.0:0.9238:0.0	.	484;484	Q96J94;Q96J94-2	PIWL1_HUMAN;.	C	484	ENSP00000245255:G484C	ENSP00000245255:G484C	G	+	1	0	PIWIL1	129407461	1.000000	0.71417	0.333000	0.25482	0.947000	0.59692	6.546000	0.73887	2.512000	0.84698	0.655000	0.94253	GGT		0.353	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			6	39	1	0	8.12818e-05	1	8.54148e-05	6	39				
CAD	790	broad.mit.edu	37	2	27449052	27449052	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:27449052A>G	ENST00000264705.4	+	13	2058	c.1896A>G	c.(1894-1896)atA>atG	p.I632M	CAD_ENST00000403525.1_Intron	NM_004341.3	NP_004332.2	O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAGTCCATAGTGGTGGCCC	0.567																																						ENST00000264705.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92						c.(1894-1896)atA>atG		carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						88.0	86.0	87.0					2																	27449052		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27449052A>G	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000264705.4:c.1896A>G	2.37:g.27449052A>G	ENSP00000264705:p.Ile632Met					CAD_ENST00000403525.1_Intron	p.I632M	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN			13	2058	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		632			ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A.		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000264705.4	37	c.1896A>G	CCDS1742.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163743	0.78226	.	.	ENSG00000084774	ENST00000264705	D	0.98028	-4.67	5.51	-6.47	0.01902	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Carbamoyl-phosphate synthase, large subunit, CPS-domain (1);	0.045906	0.85682	D	0.000000	D	0.97993	0.9339	M	0.88377	2.95	0.80722	D	1	P	0.49783	0.928	P	0.55824	0.785	D	0.97047	0.9761	10	0.87932	D	0	0.652	16.3145	0.82913	0.1574:0.7483:0.0:0.0943	.	632	P27708	PYR1_HUMAN	M	632	ENSP00000264705:I632M	ENSP00000264705:I632M	I	+	3	3	CAD	27302556	0.000000	0.05858	0.960000	0.40013	0.989000	0.77384	-1.887000	0.01617	-0.957000	0.03627	0.454000	0.30748	ATA		0.567	CAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214186.2			18	29	0	0	0	1	0	18	29				
CCDC172	374355	broad.mit.edu	37	10	118117378	118117378	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:118117378G>T	ENST00000333254.3	+	7	832	c.581G>T	c.(580-582)tGt>tTt	p.C194F		NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	194																	GAATCCATTTGTACTACCAAA	0.274																																						ENST00000333254.3																			0											c.(580-582)tGt>tTt		coiled-coil domain containing 172							47.0	50.0	49.0					10																	118117378		2198	4284	6482	SO:0001583	missense	374355							g.chr10:118117378G>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.581G>T	10.37:g.118117378G>T	ENSP00000329860:p.Cys194Phe						p.C194F	NM_198515.2	NP_940917.1					7	832	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.581G>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	G	1.635	-0.517979	0.04171	.	.	ENSG00000182645	ENST00000333254	.	.	.	5.62	-0.968	0.10313	.	1.018280	0.07820	N	0.959647	T	0.31451	0.0797	L	0.57536	1.79	0.09310	N	1	B	0.30439	0.279	B	0.26693	0.072	T	0.26573	-1.0099	9	0.10111	T	0.7	-9.1956	6.1445	0.20278	0.4902:0.0:0.3863:0.1234	.	194	P0C7W6	CJ096_HUMAN	F	194	.	ENSP00000329860:C194F	C	+	2	0	C10orf96	118107368	0.061000	0.20836	0.992000	0.48379	0.969000	0.65631	-0.142000	0.10311	0.009000	0.14813	-0.140000	0.14226	TGT		0.274	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		3	22	1	0	0.115264	1	0.115264	3	22				
ZNF483	158399	broad.mit.edu	37	9	114304902	114304902	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr9:114304902A>T	ENST00000309235.5	+	6	1845	c.1687A>T	c.(1687-1689)Agc>Tgc	p.S563C	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTCAGTCATAGCTCATCCCT	0.408																																						ENST00000309235.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(1687-1689)Agc>Tgc		zinc finger protein 483							61.0	67.0	65.0					9																	114304902		2203	4300	6503	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304902A>T	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1687A>T	9.37:g.114304902A>T	ENSP00000311679:p.Ser563Cys					ZNF483_ENST00000358151.4_Intron	p.S563C	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN			6	1845	+			563					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.1687A>T	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.595105	0.46318	.	.	ENSG00000173258	ENST00000309235	T	0.33216	1.42	3.84	3.84	0.44239	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000031	T	0.41581	0.1165	M	0.83223	2.63	0.24495	N	0.994287	D	0.63880	0.993	P	0.49922	0.626	T	0.42447	-0.9451	10	0.52906	T	0.07	-15.5217	6.7154	0.23300	0.79:0.0:0.0:0.2099	.	563	Q8TF39	ZN483_HUMAN	C	563	ENSP00000311679:S563C	ENSP00000311679:S563C	S	+	1	0	ZNF483	113344723	0.000000	0.05858	0.999000	0.59377	0.992000	0.81027	0.304000	0.19228	1.972000	0.57404	0.533000	0.62120	AGC		0.408	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		12	54	0	0	0	1	0	12	54				
CLASRP	11129	broad.mit.edu	37	19	45561124	45561124	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:45561124A>C	ENST00000221455.3	+	7	679	c.581A>C	c.(580-582)aAc>aCc	p.N194T	CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T|CLASRP_ENST00000544944.2_Missense_Mutation_p.N194T	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	194					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GAGGAGAGCAACTCGGACGAA	0.617																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(580-582)aAc>aCc		CLK4-associating serine/arginine rich protein							176.0	116.0	137.0					19																	45561124		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45561124A>C	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.581A>C	19.37:g.45561124A>C	ENSP00000221455:p.Asn194Thr					CLASRP_ENST00000391953.4_Missense_Mutation_p.N132T|CLASRP_ENST00000221455.3_Missense_Mutation_p.N194T	p.N194T			Q8N2M8	CLASR_HUMAN			6	1273	+			194					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.581A>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.201106	0.79015	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.46063	1.51;1.5;0.88;1.5	5.48	5.48	0.80851	.	0.000000	0.39475	U	0.001350	T	0.26376	0.0644	N	0.08118	0	0.40877	D	0.983968	P;P;P	0.43287	0.73;0.802;0.702	B;B;B	0.41236	0.351;0.33;0.116	T	0.15235	-1.0444	10	0.39692	T	0.17	-40.7112	13.5244	0.61586	1.0:0.0:0.0:0.0	.	132;194;194	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	T	194;194;132;194	ENSP00000221455:N194T;ENSP00000375814:N194T;ENSP00000375815:N132T;ENSP00000438702:N194T	ENSP00000221455:N194T	N	+	2	0	CLASRP	50252964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.816000	0.75247	2.086000	0.62901	0.455000	0.32223	AAC		0.617	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		12	13	0	0	0	1	0	12	13				
PEX2	5828	broad.mit.edu	37	8	77895648	77895648	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr8:77895648G>A	ENST00000419564.2	-	4	1231	c.767C>T	c.(766-768)aCc>aTc	p.T256I	PEX2_ENST00000357039.4_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000520103.1_Missense_Mutation_p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	256					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						ACATCCTATGGTGTGAGGCAT	0.433																																						ENST00000419564.2																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						c.(766-768)aCc>aTc		peroxisomal biogenesis factor 2							90.0	83.0	85.0					8																	77895648		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77895648G>A	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.767C>T	8.37:g.77895648G>A	ENSP00000400984:p.Thr256Ile					PEX2_ENST00000357039.4_Missense_Mutation_p.T256I|PEX2_ENST00000522527.1_Missense_Mutation_p.T256I|PEX2_ENST00000520103.1_Missense_Mutation_p.T256I	p.T256I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN			4	1231	-			256					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.767C>T	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294380	0.60086	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.35	5.35	0.76521	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.160623	0.53938	D	0.000045	D	0.86276	0.5894	L	0.32530	0.975	0.50632	D	0.999888	P	0.49253	0.921	P	0.49829	0.623	D	0.84419	0.0570	10	0.31617	T	0.26	-18.92	19.2714	0.94011	0.0:0.0:1.0:0.0	.	256	P28328	PEX2_HUMAN	I	256	ENSP00000349543:T256I;ENSP00000400984:T256I;ENSP00000428590:T256I;ENSP00000428638:T256I	ENSP00000349543:T256I	T	-	2	0	PEX2	78058203	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.162000	0.71874	2.792000	0.96026	0.557000	0.71058	ACC		0.433	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		17	92	0	0	0	1	0	17	92				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	79	0	0	0	1	0	4	79				
CCR2	729230	broad.mit.edu	37	3	46399612	46399612	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:46399612G>C	ENST00000400888.2	+	1	633	c.594G>C	c.(592-594)tgG>tgC	p.W198C	CCR2_ENST00000292301.4_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR|CCR2_ENST00000445132.2_Missense_Mutation_p.W198C			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	198					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CACGAGGATGGAATAATTTCC	0.463																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(592-594)tgG>tgC		chemokine (C-C motif) receptor 2							254.0	245.0	248.0					3																	46399612		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399612G>C		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.594G>C	3.37:g.46399612G>C	ENSP00000383681:p.Trp198Cys					CCR2_ENST00000400888.2_Missense_Mutation_p.W198C|CCR2_ENST00000445132.2_Missense_Mutation_p.W198C|CCR2_ENST00000465202.1_3'UTR	p.W198C	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	1079	+			198					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.594G>C	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804318	0.50315	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000400888	T;T;T	0.38722	1.12;1.12;1.12	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.80031	0.4549	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88722	0.3230	10	0.87932	D	0	.	18.7457	0.91792	0.0:0.0:1.0:0.0	.	198;198	P41597;Q4VBL2	CCR2_HUMAN;.	C	198	ENSP00000399285:W198C;ENSP00000292301:W198C;ENSP00000383681:W198C	ENSP00000292301:W198C	W	+	3	0	CCR2	46374616	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	4.059000	0.57470	2.511000	0.84671	0.650000	0.86243	TGG		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		5	178	0	0	0	1	0	5	178				
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:15839063C>T	ENST00000300036.5	-	20	2552	c.2443G>A	c.(2443-2445)Gcc>Acc	p.A815T	MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.2_Missense_Mutation_p.A815T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2443-2445)Gcc>Acc		myosin, heavy chain 11, smooth muscle							68.0	64.0	65.0					16																	15839063		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15839063C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2443G>A	16.37:g.15839063C>T	ENSP00000300036:p.Ala815Thr					MYH11_ENST00000576790.1_Missense_Mutation_p.A815T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T	p.A815T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			20	2549	-			815			IQ.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2443G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324599	0.95708	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.935	D	0.94273	0.7512	10	0.87932	D	0	.	16.5013	0.84257	0.0:1.0:0.0:0.0	.	822;815;822;815;822	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	815;815;822;822;822	ENSP00000300036:A815T;ENSP00000345136:A815T;ENSP00000379616:A822T;ENSP00000407821:A822T	ENSP00000300036:A815T	A	-	1	0	MYH11	15746564	1.000000	0.71417	0.936000	0.37596	0.966000	0.64601	7.810000	0.86072	2.112000	0.64535	0.549000	0.68633	GCC		0.617	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		8	64	0	0	0	1	0	8	64				
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:47696688T>G	ENST00000393328.2	-	5	625	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393331.3_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)																												ENST00000393331.3																			4	Substitution - Missense(4)	p.Y87C(2)|p.Y87S(2)	prostate(4)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(259-261)tAc>tCc		speckle-type POZ protein							114.0	107.0	109.0					17																	47696688		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696688T>G	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.260A>C	17.37:g.47696688T>G	ENSP00000377001:p.Tyr87Ser	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S	p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	730	-			87			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.260A>C	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.659213	0.88154	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.90019	3.08	0.80722	D	1	P	0.46512	0.879	D	0.71870	0.975	D	0.86577	0.1851	10	0.51188	T	0.08	-9.2801	15.4649	0.75390	0.0:0.0:0.0:1.0	.	87	O43791	SPOP_HUMAN	S	87;87;87;87;87;40;87;87;87;87;87	ENSP00000377001:Y87S;ENSP00000377004:Y87S;ENSP00000240327:Y87S;ENSP00000425905:Y87S;ENSP00000420908:Y87S;ENSP00000426986:Y87S;ENSP00000420960:Y87S;ENSP00000426262:Y87S;ENSP00000424119:Y87S;ENSP00000426537:Y87S	ENSP00000240327:Y87S	Y	-	2	0	SPOP	45051687	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.864000	0.87037	2.317000	0.78254	0.460000	0.39030	TAC		0.403	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	40	0	0	0	1	0	45	40				
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522																																						ENST00000564451.1																			1	Substitution - coding silent(1)	p.T398T(1)	kidney(1)																																																0							g.chr16:90162462A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162462A>G						TUBB8P7_ENST00000567960.1_RNA								0	1815	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.522	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	59	0	0	0	1	0	4	59				
FAM110C	642273	broad.mit.edu	37	2	45551	45551	+	Nonsense_Mutation	SNP	G	G	A	rs201168179		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:45551G>A	ENST00000327669.4	-	1	834	c.835C>T	c.(835-837)Cag>Tag	p.Q279*	FAM110C_ENST00000460464.1_5'Flank	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN	family with sequence similarity 110, member C	279					positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell projection assembly (GO:0060491)	cell cortex (GO:0005938)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|kidney(1)|lung(2)	4	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)		CTGGGCACCTGCTCTATCAGC	0.657													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13578	0.0		0.0	False		,,,				2504	0.0					ENST00000327669.4																			0				central_nervous_system(1)|kidney(1)|lung(2)	4						c.(835-837)Cag>Tag		family with sequence similarity 110, member C							44.0	52.0	49.0					2																	45551		2099	4221	6320	SO:0001587	stop_gained	642273					microtubule|microtubule organizing center|spindle pole		g.chr2:45551G>A	DQ431183	CCDS42645.1	2p25.3	2011-12-01			ENSG00000184731	ENSG00000184731			33340	protein-coding gene	gene with protein product		611395				17499476, 19698782	Standard	NM_001077710		Approved		uc010yim.2	Q1W6H9	OTTHUMG00000151321	ENST00000327669.4:c.835C>T	2.37:g.45551G>A	ENSP00000328347:p.Gln279*						p.Q279*	NM_001077710.2	NP_001071178.2	Q1W6H9	F110C_HUMAN		all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232)	1	834	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00221)	279						Nonsense_Mutation	SNP	ENST00000327669.4	37	c.835C>T	CCDS42645.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	37	6.480479	0.97603	.	.	ENSG00000184731	ENST00000327669	.	.	.	4.64	4.64	0.57946	.	0.059413	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-8.1297	15.3421	0.74306	0.0:0.0:1.0:0.0	.	.	.	.	X	279	.	ENSP00000328347:Q279X	Q	-	1	0	FAM110C	35551	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.982000	0.63825	2.277000	0.76020	0.561000	0.74099	CAG		0.657	FAM110C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322220.1	NM_001077710		12	24	0	0	0	1	0	12	24				
INPP5B	3633	broad.mit.edu	37	1	38328017	38328017	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:38328017A>C	ENST00000373026.1	-	23	2952	c.2952T>G	c.(2950-2952)ttT>ttG	p.F984L	INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L|MTF1_ENST00000373036.4_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373023.2_Missense_Mutation_p.F984L|RP11-109P14.10_ENST00000419993.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	984	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTGGTGAATAAATTCTTGAG	0.458																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(2950-2952)ttT>ttG		inositol polyphosphate-5-phosphatase, 75kDa							119.0	116.0	117.0					1																	38328017		1863	4096	5959	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38328017A>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.2952T>G	1.37:g.38328017A>C	ENSP00000362117:p.Phe984Leu					INPP5B_ENST00000373027.1_Missense_Mutation_p.F740L|INPP5B_ENST00000373024.3_Missense_Mutation_p.F904L|INPP5B_ENST00000373026.1_Missense_Mutation_p.F984L	p.F984L	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			24	3045	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	984			Rho-GAP.		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.2952T>G		.	.	.	.	.	.	.	.	.	.	A	22.8	4.333264	0.81801	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373026;ENST00000373024	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.63	4.35	0.52113	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.56056	-0.8042	10	0.59425	D	0.04	.	8.9778	0.35946	0.846:0.0:0.154:0.0	.	904	P32019-2	.	L	740;984;984;904	ENSP00000362118:F740L;ENSP00000362114:F984L;ENSP00000362117:F984L;ENSP00000362115:F904L	ENSP00000362114:F984L	F	-	3	2	INPP5B	38100604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	2.265000	0.75225	0.533000	0.62120	TTT		0.458	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		13	38	0	0	0	1	0	13	38				
DNAH17	8632	broad.mit.edu	37	17	76435217	76435217	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr17:76435217G>A	ENST00000585328.1	-	73	11869	c.11745C>T	c.(11743-11745)aaC>aaT	p.N3915N	DNAH17_ENST00000389840.5_Silent_p.N3906N|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3906	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTCCAGGGCGTTCTCAGCCA	0.532																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(11716-11718)aaC>aaT		dynein, axonemal, heavy chain 17							76.0	61.0	66.0					17																	76435217		2203	4299	6502	SO:0001819	synonymous_variant	8632							g.chr17:76435217G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11745C>T	17.37:g.76435217G>A						DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.N3915N	p.N3906N					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		73	11842	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.11718C>T																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		15	16	0	0	0	1	0	15	16				
TRPV4	59341	broad.mit.edu	37	12	110238504	110238504	+	Missense_Mutation	SNP	C	C	T	rs138419280		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr12:110238504C>T	ENST00000418703.2	-	4	866	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.V258M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V224M|TRPV4_ENST00000346520.2_Missense_Mutation_p.V258M|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.V258M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	258					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCTGGGCCACGAGAAGTTCC	0.642																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(772-774)Gtg>Atg		transient receptor potential cation channel, subfamily V, member 4		C	,MET/VAL,,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	84.0	67.0	73.0		,670,,772,772	4.0	1.0	12	dbSNP_134	73	0,8600		0,0,4300	no	intron,missense,intron,missense,missense	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,21,,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,probably-damaging	,224/838,,258/872,258/812	110238504	1,13005	2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110238504C>T	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.772G>A	12.37:g.110238504C>T	ENSP00000406191:p.Val258Met					TRPV4_ENST00000346520.2_Missense_Mutation_p.V258M|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Missense_Mutation_p.V258M|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000537083.1_Missense_Mutation_p.V258M|TRPV4_ENST00000536838.1_Missense_Mutation_p.V224M	p.V258M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			4	866	-			258					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.772G>A	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196179	0.58126	2.27E-4	0.0	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000346520;ENST00000537083;ENST00000536838	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	4.92	4.03	0.46877	Ankyrin repeat-containing domain (3);	0.184267	0.47852	D	0.000214	T	0.72946	0.3524	L	0.38953	1.18	0.36669	D	0.878405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.933;0.975	T	0.78974	-0.1992	10	0.87932	D	0	-12.1954	12.0442	0.53471	0.0:0.9156:0.0:0.0844	.	258;258;224	Q9HBA0-2;Q9HBA0;Q9HBA0-5	.;TRPV4_HUMAN;.	M	258;258;258;258;224	ENSP00000406191:V258M;ENSP00000261740:V258M;ENSP00000319003:V258M;ENSP00000442738:V258M;ENSP00000444336:V224M	ENSP00000261740:V258M	V	-	1	0	TRPV4	108722887	1.000000	0.71417	0.963000	0.40424	0.371000	0.29859	3.548000	0.53670	1.210000	0.43336	0.655000	0.94253	GTG		0.642	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		3	44	0	0	0	1	0	3	44				
AP3M1	26985	broad.mit.edu	37	10	75896496	75896496	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:75896496T>G	ENST00000355264.4	-	3	650	c.339A>C	c.(337-339)ttA>ttC	p.L113F	AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F|AP3M1_ENST00000487653.1_5'Flank	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	113					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					ACATTTCTTCTAAGAGTTCAT	0.358																																						ENST00000355264.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13						c.(337-339)ttA>ttC		adaptor-related protein complex 3, mu 1 subunit							134.0	125.0	128.0					10																	75896496		2203	4300	6503	SO:0001583	missense	26985				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding	g.chr10:75896496T>G	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.339A>C	10.37:g.75896496T>G	ENSP00000347408:p.Leu113Phe					AP3M1_ENST00000372745.1_Missense_Mutation_p.L113F	p.L113F	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN			3	650	-	Prostate(51;0.0112)		113					Q5JQ12|Q9H5L2	Missense_Mutation	SNP	ENST00000355264.4	37	c.339A>C	CCDS7342.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850911	0.71719	.	.	ENSG00000185009	ENST00000355264;ENST00000372745	D;D	0.88509	-2.39;-2.39	5.74	0.438	0.16560	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	D	0.93851	0.8033	M	0.91717	3.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90858	0.4736	10	0.66056	D	0.02	.	6.3593	0.21419	0.1087:0.5135:0.0:0.3778	.	113	Q9Y2T2	AP3M1_HUMAN	F	113	ENSP00000347408:L113F;ENSP00000361831:L113F	ENSP00000347408:L113F	L	-	3	2	AP3M1	75566502	0.983000	0.35010	0.994000	0.49952	0.977000	0.68977	0.211000	0.17474	-0.127000	0.11661	-1.144000	0.01866	TTA		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1			10	29	0	0	0	1	0	10	29				
KNDC1	85442	broad.mit.edu	37	10	135025035	135025035	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr10:135025035G>T	ENST00000304613.3	+	22	4039	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1340	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCGGAACAGCGGGCTGCTGGG	0.667																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(4018-4020)Ggg>Tgg		kinase non-catalytic C-lobe domain (KIND) containing 1							88.0	91.0	90.0					10																	135025035		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135025035G>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.4018G>T	10.37:g.135025035G>T	ENSP00000304437:p.Gly1340Trp					KNDC1_ENST00000368572.2_Missense_Mutation_p.G1342W	p.G1340W			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	22	4039	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1340			N-terminal Ras-GEF.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.4018G>T	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404119	0.25291	.	.	ENSG00000171798	ENST00000304613;ENST00000368572	T;T	0.50001	0.76;0.76	3.96	2.01	0.26516	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.803958	0.11184	U	0.590657	T	0.57110	0.2031	L	0.43152	1.355	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42916	-0.9423	10	0.72032	D	0.01	-15.4731	8.8163	0.34998	0.2134:0.0:0.7866:0.0	.	1340	Q76NI1	VKIND_HUMAN	W	1340;1342	ENSP00000304437:G1340W;ENSP00000357561:G1342W	ENSP00000304437:G1340W	G	+	1	0	KNDC1	134875025	0.016000	0.18221	0.063000	0.19743	0.165000	0.22458	1.429000	0.34903	0.789000	0.33779	0.297000	0.19635	GGG		0.667	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		30	40	1	0	1.836e-18	1	2.232e-18	30	40				
ETV1	2115	broad.mit.edu	37	7	13975392	13975392	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:13975392G>A	ENST00000430479.1	-	8	1162	c.495C>T	c.(493-495)ttC>ttT	p.F165F	ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.F125F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000343495.5_Silent_p.F147F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000242066.5_Silent_p.F147F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	165					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGAGCTGGGAAGGCCCGGT	0.552			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(439-441)ttC>ttT		ets variant 1							206.0	213.0	211.0					7																	13975392		2121	4252	6373	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13975392G>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.495C>T	7.37:g.13975392G>A						ETV1_ENST00000405218.2_Silent_p.F165F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Silent_p.F147F|ETV1_ENST00000242066.5_Silent_p.F147F|ETV1_ENST00000405358.4_Silent_p.F179F|ETV1_ENST00000430479.1_Silent_p.F165F|ETV1_ENST00000405192.2_Silent_p.F165F|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000420159.2_Silent_p.F107F|ETV1_ENST00000403527.1_Silent_p.F125F	p.F147F			P50549	ETV1_HUMAN			7	1179	-			165					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.441C>T	CCDS55088.1																																																																																				0.552	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		84	70	0	0	0	1	0	84	70				
KIAA1211	57482	broad.mit.edu	37	4	57181641	57181641	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr4:57181641C>A	ENST00000504228.1	+	6	2078	c.1973C>A	c.(1972-1974)tCt>tAt	p.S658Y	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y			Q6ZU35	K1211_HUMAN	KIAA1211	658										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGCCAGGAGTCTCCCAGCAGC	0.677																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(1972-1974)tCt>tAt		KIAA1211							20.0	25.0	23.0					4																	57181641		1944	4117	6061	SO:0001583	missense	57482							g.chr4:57181641C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1973C>A	4.37:g.57181641C>A	ENSP00000423366:p.Ser658Tyr					KIAA1211_ENST00000264229.6_Missense_Mutation_p.S658Y|KIAA1211_ENST00000541073.1_Missense_Mutation_p.S651Y	p.S658Y			Q6ZU35	K1211_HUMAN			6	2078	+	Glioma(25;0.08)|all_neural(26;0.101)		658					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1973C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476392	0.63737	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02301	4.35;4.35;4.35	4.48	3.62	0.41486	.	.	.	.	.	T	0.09818	0.0241	L	0.59436	1.845	0.19300	N	0.999973	D;D;P	0.76494	0.999;0.999;0.946	D;D;P	0.69479	0.964;0.964;0.77	T	0.05716	-1.0868	9	0.87932	D	0	-1.4726	14.3247	0.66512	0.0:0.8504:0.1496:0.0	.	651;651;658	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	Y	658;658;651;568	ENSP00000264229:S658Y;ENSP00000423366:S658Y;ENSP00000444006:S651Y	ENSP00000264229:S658Y	S	+	2	0	KIAA1211	56876398	0.063000	0.20901	0.001000	0.08648	0.005000	0.04900	3.516000	0.53436	1.057000	0.40506	0.561000	0.74099	TCT		0.677	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	16	1	0	0.000602214	1	0.000612087	5	16				
IL36RN	26525	broad.mit.edu	37	2	113819703	113819703	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:113819703G>C	ENST00000393200.2	+	4	279	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	40					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCACAGGTGAAGAGATCAG	0.632																																						ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)Gaa>Caa		interleukin 36 receptor antagonist							42.0	41.0	42.0					2																	113819703		2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113819703G>C	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.118G>C	2.37:g.113819703G>C	ENSP00000376896:p.Glu40Gln					IL36RN_ENST00000346807.3_Missense_Mutation_p.E40Q	p.E40Q	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			4	279	+			40					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.118G>C	CCDS2111.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860225	0.71834	.	.	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	T;T;T	0.78246	-1.16;-1.16;-1.16	5.36	5.36	0.76844	.	0.175673	0.49916	D	0.000126	D	0.85075	0.5614	L	0.59436	1.845	0.35816	D	0.824212	D	0.76494	0.999	D	0.68353	0.957	D	0.89324	0.3642	10	0.87932	D	0	-31.241	14.5869	0.68331	0.0:0.0:1.0:0.0	.	40	Q9UBH0	I36RA_HUMAN	Q	40	ENSP00000259212:E40Q;ENSP00000376896:E40Q;ENSP00000409262:E40Q	ENSP00000259212:E40Q	E	+	1	0	IL36RN	113536174	0.994000	0.37717	0.998000	0.56505	0.705000	0.40729	4.823000	0.62694	2.511000	0.84671	0.655000	0.94253	GAA		0.632	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		7	8	0	0	0	1	0	7	8				
TRPC5	7224	broad.mit.edu	37	X	111095551	111095551	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:111095551G>A	ENST00000262839.2	-	5	2270	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	451					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATCTTCAGGGAAATAGTTGC	0.418																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1351-1353)tCc>tTc		transient receptor potential cation channel, subfamily C, member 5							142.0	119.0	127.0					X																	111095551		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111095551G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1352C>T	X.37:g.111095551G>A	ENSP00000262839:p.Ser451Phe						p.S451F	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			5	2270	-			451					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1352C>T	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949262	0.92660	.	.	ENSG00000072315	ENST00000262839	D	0.98264	-4.83	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.83275	0.987;0.996	D	0.99790	1.1031	10	0.51188	T	0.08	-2.1385	19.057	0.93069	0.0:0.0:1.0:0.0	.	452;451	Q59G51;Q9UL62	.;TRPC5_HUMAN	F	451	ENSP00000262839:S451F	ENSP00000262839:S451F	S	-	2	0	TRPC5	110982207	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.814000	0.99346	2.449000	0.82847	0.600000	0.82982	TCC		0.418	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		43	7	0	0	0	1	0	43	7				
ZNF646	9726	broad.mit.edu	37	16	31090753	31090753	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31090753C>T	ENST00000394979.2	+	1	3531	c.3108C>T	c.(3106-3108)ctC>ctT	p.L1036L	ZNF646_ENST00000300850.5_Silent_p.L1036L			O15015	ZN646_HUMAN	zinc finger protein 646	1036					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGACAGCCTCTGCATCCAGG	0.597																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(3106-3108)ctC>ctT		zinc finger protein 646							105.0	106.0	106.0					16																	31090753		2197	4300	6497	SO:0001819	synonymous_variant	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31090753C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3108C>T	16.37:g.31090753C>T						ZNF646_ENST00000300850.5_Silent_p.L1036L	p.L1036L			O15015	ZN646_HUMAN			1	3531	+			1036					Q8IVD8	Silent	SNP	ENST00000394979.2	37	c.3108C>T																																																																																					0.597	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		64	52	0	0	0	1	0	64	52				
PAK7	57144	broad.mit.edu	37	20	9546787	9546787	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr20:9546787G>A	ENST00000378429.3	-	6	1781	c.1235C>T	c.(1234-1236)cCg>cTg	p.P412L	PAK7_ENST00000378423.1_Missense_Mutation_p.P412L|PAK7_ENST00000353224.5_Missense_Mutation_p.P412L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	412	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GCTGGGCGGCGGGTAGGTGCT	0.647																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1234-1236)cCg>cTg		p21 protein (Cdc42/Rac)-activated kinase 7							63.0	64.0	64.0					20																	9546787		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546787G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1235C>T	20.37:g.9546787G>A	ENSP00000367686:p.Pro412Leu					PAK7_ENST00000353224.5_Missense_Mutation_p.P412L|PAK7_ENST00000378423.1_Missense_Mutation_p.P412L	p.P412L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1781	-			412			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1235C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	32	5.116879	0.94385	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.28666	1.6;1.6;1.6	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	T	0.13629	-1.0502	9	.	.	.	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	412;412	B0AZM9;Q9P286	.;PAK7_HUMAN	L	412;412;412;360	ENSP00000367686:P412L;ENSP00000322957:P412L;ENSP00000367679:P412L	.	P	-	2	0	PAK7	9494787	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	9.230000	0.95299	2.807000	0.96579	0.591000	0.81541	CCG		0.647	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			16	39	0	0	0	1	0	16	39				
APOA1BP	128240	broad.mit.edu	37	1	156563208	156563208	+	Silent	SNP	G	G	A	rs182257927	byFrequency	TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr1:156563208G>A	ENST00000368235.3	+	5	568	c.525G>A	c.(523-525)acG>acA	p.T175T	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368234.3_Intron|APOA1BP_ENST00000368233.3_Silent_p.T175T	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCCCATGACGATTGATGAAC	0.542													G|||	3	0.000599042	0.0023	0.0	5008	,	,		22105	0.0		0.0	False		,,,				2504	0.0					ENST00000368235.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9						c.(523-525)acG>acA		apolipoprotein A-I binding protein							125.0	103.0	110.0					1																	156563208		2203	4300	6503	SO:0001819	synonymous_variant	128240					extracellular region	protein binding	g.chr1:156563208G>A	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.525G>A	1.37:g.156563208G>A						APOA1BP_ENST00000368233.3_Silent_p.T175T|APOA1BP_ENST00000368234.3_Intron	p.T175T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN			5	568	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		175			YjeF N-terminal.			Silent	SNP	ENST00000368235.3	37	c.525G>A	CCDS1145.1																																																																																				0.542	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1	NM_144772		7	59	0	0	0	1	0	7	59				
EPHA1	2041	broad.mit.edu	37	7	143096819	143096819	+	Missense_Mutation	SNP	C	C	T	rs549085590		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:143096819C>T	ENST00000275815.3	-	4	846	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	254	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCAGCCACTCGCCATCAGGG	0.667													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16126	0.0		0.0	False		,,,				2504	0.0					ENST00000275815.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51						c.(760-762)Gag>Aag		EPH receptor A1							39.0	43.0	42.0					7																	143096819		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143096819C>T	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.760G>A	7.37:g.143096819C>T	ENSP00000275815:p.Glu254Lys						p.E254K	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN			4	846	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	254			Cys-rich.		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.760G>A	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	32	5.130527	0.94473	.	.	ENSG00000146904	ENST00000275815	T	0.74106	-0.81	5.22	4.33	0.51752	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.000000	0.64402	D	0.000012	T	0.69342	0.3100	M	0.62088	1.915	0.50039	D	0.99984	D	0.53151	0.958	B	0.36418	0.224	T	0.76296	-0.3011	10	0.87932	D	0	.	16.1506	0.81618	0.0:0.8668:0.1332:0.0	.	254	P21709	EPHA1_HUMAN	K	254	ENSP00000275815:E254K	ENSP00000275815:E254K	E	-	1	0	EPHA1	142806941	0.993000	0.37304	0.926000	0.36857	0.950000	0.60333	3.077000	0.50089	1.407000	0.46875	0.655000	0.94253	GAG		0.667	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			3	45	0	0	0	1	0	3	45				
HLA-DQA2	3118	broad.mit.edu	37	6	32714045	32714045	+	Silent	SNP	G	G	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr6:32714045G>A	ENST00000374940.3	+	4	744	c.642G>A	c.(640-642)gaG>gaA	p.E214E		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	214	Connecting peptide.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CTATGTCAGAGCTCACAGAGA	0.557																																						ENST00000374940.3																			0				endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13						c.(640-642)gaG>gaA		major histocompatibility complex, class II, DQ alpha 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						167.0	163.0	164.0					6																	32714045		1511	2709	4220	SO:0001819	synonymous_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32714045G>A		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.642G>A	6.37:g.32714045G>A							p.E214E	NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN			4	744	+			214			Connecting peptide.		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.642G>A	CCDS4753.1																																																																																				0.557	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		23	51	0	0	0	1	0	23	51				
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr3:129116038C>T	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567																																						ENST00000514355.1																			0				lung(1)	1															146.0	143.0	144.0					3																	129116038		876	1991	2867			0							g.chr3:129116038C>T	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116038C>T														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.567	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			4	63	0	0	0	1	0	4	63				
PER2	8864	broad.mit.edu	37	2	239160292	239160292	+	Silent	SNP	C	C	A	rs569166271		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:239160292C>A	ENST00000254657.3	-	20	3501	c.3222G>T	c.(3220-3222)tcG>tcT	p.S1074S	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1074					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCAGAGACTCCGAAGCAGCAG	0.637																																						ENST00000254657.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3220-3222)tcG>tcT		period circadian clock 2							105.0	105.0	105.0					2																	239160292		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239160292C>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.3222G>T	2.37:g.239160292C>A						AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	p.S1074S	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	20	3501	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	1074					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.3222G>T	CCDS2528.1																																																																																				0.637	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		19	20	1	0	8.00594e-06	1	8.70822e-06	19	20				
ZNF382	84911	broad.mit.edu	37	19	37117962	37117962	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr19:37117962C>T	ENST00000292928.2	+	5	1276	c.1163C>T	c.(1162-1164)gCc>gTc	p.A388V	ZNF382_ENST00000423582.1_Missense_Mutation_p.A339V|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.A387V|ZNF382_ENST00000435416.1_Missense_Mutation_p.A387V	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	388	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TGTGGAAGTGCCTTTAGGAAG	0.473																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1159-1161)gCc>gTc		zinc finger protein 382							93.0	94.0	94.0					19																	37117962		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37117962C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1163C>T	19.37:g.37117962C>T	ENSP00000292928:p.Ala388Val					ZNF382_ENST00000423582.1_Missense_Mutation_p.A339V|ZNF382_ENST00000292928.2_Missense_Mutation_p.A388V|ZNF382_ENST00000439428.1_Missense_Mutation_p.A387V	p.A387V			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2655	+	Esophageal squamous(110;0.198)		388			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1160C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164728	0.78339	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39834	N	0.001249	T	0.33904	0.0879	L	0.35341	1.055	0.34401	D	0.695268	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.70487	0.948;0.948;0.969	T	0.45056	-0.9287	10	0.59425	D	0.04	.	14.5487	0.68050	0.0:1.0:0.0:0.0	.	387;387;388	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	V	339;388;387;387	ENSP00000389722:A339V;ENSP00000292928:A388V;ENSP00000407593:A387V;ENSP00000410113:A387V	ENSP00000292928:A388V	A	+	2	0	ZNF382	41809802	0.062000	0.20869	1.000000	0.80357	0.998000	0.95712	0.568000	0.23623	2.375000	0.81037	0.591000	0.81541	GCC		0.473	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		19	37	0	0	0	1	0	19	37				
SLC12A6	9990	broad.mit.edu	37	15	34527452	34527452	+	Silent	SNP	C	C	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:34527452C>T	ENST00000354181.3	-	25	3783	c.3291G>A	c.(3289-3291)aaG>aaA	p.K1097K	SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000560164.1_Silent_p.K909K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000558589.1_Silent_p.K1088K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	1097					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTCATGGGACTTGTTAACTA	0.458																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(3289-3291)aaG>aaA		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						115.0	108.0	110.0					15																	34527452		2201	4298	6499	SO:0001819	synonymous_variant	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34527452C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.3291G>A	15.37:g.34527452C>T						SLC12A6_ENST00000451844.2_Silent_p.K909K|SLC12A6_ENST00000397702.2_Silent_p.K1038K|SLC12A6_ENST00000290209.5_Silent_p.K1046K|SLC12A6_ENST00000558667.1_Silent_p.K1097K|SLC12A6_ENST00000458406.2_Silent_p.K1038K|SLC12A6_ENST00000560611.1_Silent_p.K1097K|SLC12A6_ENST00000558589.1_Silent_p.K1088K|SLC12A6_ENST00000397707.2_Silent_p.K1082K|SLC12A6_ENST00000560164.1_Silent_p.K909K	p.K1097K			Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	25	3783	-		all_lung(180;2.78e-08)	1097					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	c.3291G>A	CCDS58352.1																																																																																				0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		9	18	0	0	0	1	0	9	18				
PSME4	23198	broad.mit.edu	37	2	54093344	54093345	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr2:54093344_54093345insT	ENST00000404125.1	-	46	5468_5469	c.5413_5414insA	c.(5413-5415)accfs	p.T1805fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.T949fs|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1805					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)	p.T1691fs*>39(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATTGGATAAGGTTTTTTTTACA	0.401																																						ENST00000404125.1																			1	Deletion - Frameshift(1)	p.T1691fs*>39(1)	ovary(1)	breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5413-5415)cttfs		proteasome (prosome, macropain) activator subunit 4																																				SO:0001589	frameshift_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093344_54093345insT	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5414dupA	2.37:g.54093352_54093352dupT	ENSP00000384211:p.Thr1805fs					PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Frame_Shift_Ins_p.L949fs	p.L1805fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		46	5468_5469	-			1805					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Frame_Shift_Ins	INS	ENST00000404125.1	37	c.5413_5414insA	CCDS33197.2																																																																																				0.401	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		7	137						7	137	---	---	---	---
AC118138.2	0	broad.mit.edu	37	7	74776112	74776113	+	RNA	INS	-	-	A			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr7:74776112_74776113insA	ENST00000420642.1	+	0	554																											aaaaacaaaacaaaaaaaaaac	0.401																																						ENST00000420642.1																			0																																																			0							g.chr7:74776112_74776113insA																													7.37:g.74776122_74776122dupA														0	554	+									RNA	INS	ENST00000420642.1	37																																																																																						0.401	AC118138.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345504.2			4	8						4	8	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57466440	57466440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr11:57466440delA	ENST00000287169.3	+	11	2894	c.1532delA	c.(1531-1533)gaafs	p.E511fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	511					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGCAACGGGAAGCTGAGAGG	0.602																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1531-1533)gafs		zinc finger, DHHC-type containing 5							62.0	58.0	59.0					11																	57466440		2201	4296	6497	SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57466440delA	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1532delA	11.37:g.57466440delA	ENSP00000287169:p.Glu511fs					ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.E458fs	p.E511fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN			11	2894	+			511					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Del	DEL	ENST00000287169.3	37	c.1532delA	CCDS7965.1																																																																																				0.602	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		14	31						14	31	---	---	---	---
PLIN1	5346	broad.mit.edu	37	15	90216448	90216448	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr15:90216448delG	ENST00000300055.5	-	3	408	c.243delC	c.(241-243)tccfs	p.S81fs	PLIN1_ENST00000430628.2_Frame_Shift_Del_p.S81fs	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	81					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CACACTGGGTGGACAGCCTGC	0.612											OREG0023461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300055.5																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						c.(241-243)tcfs		perilipin 1							23.0	19.0	20.0					15																	90216448		2196	4281	6477	SO:0001589	frameshift_variant	5346				triglyceride catabolic process	lipid particle	lipid binding	g.chr15:90216448delG	AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.243delC	15.37:g.90216448delG	ENSP00000300055:p.Ser81fs		OREG0023461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1273	PLIN1_ENST00000430628.2_Frame_Shift_Del_p.S81fs	p.S81fs	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN			3	408	-			81					Q8N5Y6	Frame_Shift_Del	DEL	ENST00000300055.5	37	c.243delC	CCDS10353.1																																																																																				0.612	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313424.2	NM_002666		2	4						2	4	---	---	---	---
ZNF267	10308	broad.mit.edu	37	16	31926190	31926190	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chr16:31926190delG	ENST00000300870.10	+	4	829	c.620delG	c.(619-621)cgafs	p.R207fs		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	207					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R207Q(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AATAGTTACCGAAATGTTTTT	0.299																																						ENST00000300870.10																			1	Substitution - Missense(1)	p.R207Q(1)	large_intestine(1)	breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						c.(619-621)cafs		zinc finger protein 267							32.0	35.0	34.0					16																	31926190		2197	4290	6487	SO:0001589	frameshift_variant	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31926190delG	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.620delG	16.37:g.31926190delG	ENSP00000300870:p.Arg207fs					RP11-170L3.8_ENST00000575471.1_RNA	p.R207fs	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN			4	829	+			207					A0JNZ9|Q8NE41|Q9NRJ0	Frame_Shift_Del	DEL	ENST00000300870.10	37	c.620delG	CCDS32440.1																																																																																				0.299	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		8	45						8	45	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	4						3	4	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158843	154158844	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8HM-01A-11D-A364-08	TCGA-YL-A8HM-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30158a14-c275-4022-a8d7-5c2f2df1e740	5100841d-0d49-4d3b-8acc-9373b2fcb95a	g.chrX:154158843_154158844insT	ENST00000360256.4	-	14	3421_3422	c.3221_3222insA	c.(3220-3222)aatfs	p.N1074fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1074	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGCTGTAGCATTTTTGTCCAT	0.356																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3220-3222)agcfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158843_154158844insT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3222dupA	X.37:g.154158848_154158848dupT	ENSP00000353393:p.Asn1074fs						p.S1074fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3421_3422	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1074			B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.3221_3222insA	CCDS35457.1																																																																																				0.356	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			42	27						42	27	---	---	---	---
