#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MUTYH	4595	broad.mit.edu	37	1	45799087	45799087	+	Missense_Mutation	SNP	G	G	A	rs373766973		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:45799087G>A	ENST00000372098.3	-	3	470	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000372100.5_Missense_Mutation_p.R99W|MUTYH_ENST00000372110.3_Missense_Mutation_p.R103W|MUTYH_ENST00000372115.3_Missense_Mutation_p.R102W|MUTYH_ENST00000456914.2_Missense_Mutation_p.R88W|MUTYH_ENST00000448481.1_Missense_Mutation_p.R99W|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000528013.2_Missense_Mutation_p.R102W|MUTYH_ENST00000355498.2_Missense_Mutation_p.R88W|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000450313.1_Missense_Mutation_p.R116W|MUTYH_ENST00000372104.1_Missense_Mutation_p.R88W|MUTYH_ENST00000354383.6_Missense_Mutation_p.R89W			Q9UIF7	MUTYH_HUMAN	mutY homolog	113					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCCTACCCGTCTTCTCCAT	0.582			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													uc001cnm.2		NA	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0					0						c.(337-339)CGG>TGG	BER_DNA_glycosylases	mutY homolog isoform 1		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	112.0	88.0	96.0		304,265,262,262,346,337	-2.1	0.0	1		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	MUTYH	NM_001048171.1,NM_001048172.1,NM_001048173.1,NM_001048174.1,NM_001128425.1,NM_012222.2	101,101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	102/536,89/523,88/522,88/522,116/550,113/547	45799087	1,13005	2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated_polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45799087G>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.337C>T	1.37:g.45799087G>A	ENSP00000361170:p.Arg113Trp					MUTYH_uc009vxn.2_Intron|MUTYH_uc001cnf.2_Missense_Mutation_p.R88W|MUTYH_uc009vxo.2_Missense_Mutation_p.R88W|MUTYH_uc001cng.2_Missense_Mutation_p.R99W|MUTYH_uc001cnj.2_Translation_Start_Site|MUTYH_uc001cni.2_Missense_Mutation_p.R88W|MUTYH_uc001cnh.2_Missense_Mutation_p.R89W|MUTYH_uc001cno.2_Translation_Start_Site|MUTYH_uc001cnk.2_Translation_Start_Site|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.R102W|MUTYH_uc009vxp.2_Missense_Mutation_p.R116W|MUTYH_uc001cnn.2_Missense_Mutation_p.R103W	p.R113W	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN			3	553	-	Acute lymphoblastic leukemia(166;0.155)		113					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.337C>T	CCDS520.1	.	.	.	.	.	.	.	.	.	.	G	7.694	0.691604	0.15039	0.0	1.16E-4	ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000435155;ENST00000528013;ENST00000483127	T;T;T;T;T;T;T;T;T;T;T;T;T	0.55413	3.2;3.19;3.2;3.2;3.2;3.19;3.19;3.19;3.19;3.19;1.88;0.88;0.52	5.64	-2.07	0.07276	DNA glycosylase (1);	1.339390	0.04953	N	0.460564	T	0.46092	0.1375	L	0.52905	1.665	0.09310	N	1	B;B;B;B;B	0.15930	0.009;0.015;0.01;0.009;0.009	B;B;B;B;B	0.14023	0.004;0.01;0.004;0.004;0.004	T	0.44772	-0.9306	10	0.56958	D	0.05	0.7787	6.3968	0.21616	0.2575:0.0:0.4575:0.2851	.	116;103;113;102;89	E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;MUTYH_HUMAN;.;.	W	88;99;88;89;88;113;103;102;116;99;99;102;94	ENSP00000361176:R88W;ENSP00000409718:R99W;ENSP00000407590:R88W;ENSP00000346354:R89W;ENSP00000347685:R88W;ENSP00000361170:R113W;ENSP00000361182:R103W;ENSP00000361187:R102W;ENSP00000408176:R116W;ENSP00000361172:R99W;ENSP00000403655:R99W;ENSP00000433130:R102W;ENSP00000436469:R94W	ENSP00000346354:R89W	R	-	1	2	MUTYH	45571674	0.527000	0.26306	0.004000	0.12327	0.051000	0.14879	1.813000	0.38962	-0.188000	0.10499	-0.140000	0.14226	CGG		0.582	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		8	80	0	0	0	0	8	80				
SGIP1	84251	broad.mit.edu	37	1	67195004	67195004	+	Silent	SNP	A	A	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:67195004A>G	ENST00000371037.4	+	20	1877	c.1800A>G	c.(1798-1800)agA>agG	p.R600R	SGIP1_ENST00000371036.3_Silent_p.R402R|AL354978.1_ENST00000408728.2_RNA|SGIP1_ENST00000371035.3_Silent_p.R390R|SGIP1_ENST00000237247.6_Silent_p.R631R|SGIP1_ENST00000371039.1_Silent_p.R403R|SGIP1_ENST00000435165.2_Silent_p.R105R	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	600	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCATCACCAGACACTTTGCCA	0.468																																						uc001dcr.2		NA																	0				ovary(3)	3						c.(1798-1800)AGA>AGG		SH3-domain GRB2-like (endophilin) interacting							130.0	122.0	125.0					1																	67195004		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67195004A>G	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1800A>G	1.37:g.67195004A>G						SGIP1_uc010opd.1_Silent_p.R200R|SGIP1_uc001dcs.2_Silent_p.R200R|SGIP1_uc001dct.2_Silent_p.R202R|SGIP1_uc009wat.2_Silent_p.R394R|SGIP1_uc001dcu.2_Silent_p.R105R	p.R600R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN			20	2017	+			600					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1800A>G	CCDS30744.1																																																																																				0.468	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		7	86	0	0	0	0	7	86				
Unknown	0	broad.mit.edu	37	1	144618124	144618124	+	IGR	SNP	G	G	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:144618124G>T								RP11-640M9.2 (12233 upstream) : NBPF9 (193619 downstream)																							GAGAGCTGACGCAGTTAAAGG	0.493																																						uc009wig.1		NA																	0					0						c.(319-321)ACG>ACT		hypothetical protein LOC400818							40.0	37.0	38.0					1																	144618124		692	1591	2283	SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144618124G>T																													1.37:g.144618124G>T						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Silent_p.T38T|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Silent_p.T38T|NBPF9_uc010oyg.1_Silent_p.T72T|NBPF9_uc009wii.1_5'UTR	p.T107T	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			6	397	+			107			Potential.			Silent	SNP		37	c.321G>T																																																																																				0	0.493									5	409	1	0	1.96e-10	2.52e-10	5	409				
NTRK1	4914	broad.mit.edu	37	1	156837972	156837972	+	Missense_Mutation	SNP	G	G	A	rs367836863	byFrequency	TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:156837972G>A	ENST00000524377.1	+	5	546	c.505G>A	c.(505-507)Gga>Aga	p.G169R	NTRK1_ENST00000392302.2_Missense_Mutation_p.G139R|NTRK1_ENST00000358660.3_Missense_Mutation_p.G169R|NTRK1_ENST00000368196.3_Missense_Mutation_p.G169R	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	169	LRRCT.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	GGGACTGGGCGGAGTGCCTGA	0.657			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			G|||	3	0.000599042	0.0	0.0	5008	,	,		17479	0.0		0.0	False		,,,				2504	0.0031					uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		0				lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(505-507)GGA>AGA		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)	G	ARG/GLY,ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	59.0	60.0	60.0		415,505,505	1.4	0.0	1		60	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	NTRK1	NM_001007792.1,NM_001012331.1,NM_002529.3	125,125,125	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	139/761,169/791,169/797	156837972	3,13003	2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156837972G>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.505G>A	1.37:g.156837972G>A	ENSP00000431418:p.Gly169Arg	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.G139R|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Missense_Mutation_p.G169R|NTRK1_uc009wsk.1_Missense_Mutation_p.G169R	p.G169R	NM_002529	NP_002520	P04629	NTRK1_HUMAN			5	561	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		169			LRRCT.|Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.505G>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577689	0.45902	2.27E-4	2.33E-4	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61	4.48	1.43	0.22495	Cysteine-rich flanking region, C-terminal (1);	0.562320	0.15956	N	0.236498	T	0.69088	0.3072	L	0.40543	1.245	0.09310	N	1	B;B;B;B	0.23316	0.008;0.046;0.083;0.067	B;B;B;B	0.19148	0.003;0.009;0.024;0.006	T	0.60193	-0.7311	10	0.40728	T	0.16	.	7.6135	0.28144	0.3738:0.0:0.6262:0.0	.	169;169;169;139	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	R	139;169;169;169	ENSP00000376120:G139R;ENSP00000357179:G169R;ENSP00000431418:G169R;ENSP00000351486:G169R	ENSP00000351486:G169R	G	+	1	0	NTRK1	155104596	0.003000	0.15002	0.003000	0.11579	0.847000	0.48162	-0.015000	0.12634	0.180000	0.19960	0.462000	0.41574	GGA		0.657	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		7	64	0	0	0	0	7	64				
GPR25	2848	broad.mit.edu	37	1	200842880	200842880	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:200842880C>T	ENST00000304244.2	+	1	798	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	239					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGGTCGGGCCCGGAGGAACTC	0.692																																						uc001gvn.1		NA																	0				ovary(1)	1						c.(715-717)CGG>TGG		G protein-coupled receptor 25							28.0	33.0	31.0					1																	200842880		2193	4291	6484	SO:0001583	missense	2848					integral to plasma membrane		g.chr1:200842880C>T	U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.715C>T	1.37:g.200842880C>T	ENSP00000301917:p.Arg239Trp						p.R239W	NM_005298	NP_005289	O00155	GPR25_HUMAN			1	715	+			239			Cytoplasmic (Potential).		A0AVJ5	Missense_Mutation	SNP	ENST00000304244.2	37	c.715C>T	CCDS1405.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.852392	0.32699	.	.	ENSG00000170128	ENST00000304244	T	0.73152	-0.72	4.52	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30556	U	0.009379	T	0.78886	0.4354	M	0.90369	3.11	0.09310	N	1	P	0.48503	0.911	P	0.48425	0.577	T	0.74355	-0.3692	10	0.87932	D	0	-13.72	10.8572	0.46806	0.4121:0.5879:0.0:0.0	.	239	O00155	GPR25_HUMAN	W	239	ENSP00000301917:R239W	ENSP00000301917:R239W	R	+	1	2	GPR25	199109503	0.000000	0.05858	0.140000	0.22221	0.233000	0.25261	1.200000	0.32247	2.031000	0.59945	0.462000	0.41574	CGG		0.692	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087056.1	NM_005298		5	58	0	0	0	0	5	58				
ZBTB18	10472	broad.mit.edu	37	1	244218372	244218372	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:244218372C>T	ENST00000358704.4	+	2	1445	c.1296C>T	c.(1294-1296)taC>taT	p.Y432Y		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	423					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTTGCATGTACACCCTCAAGC	0.627																																						uc001iae.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1267-1269)TAC>TAT		zinc finger protein 238 isoform 2							70.0	72.0	71.0					1																	244218372		2203	4300	6503	SO:0001819	synonymous_variant	10472				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:244218372C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1296C>T	1.37:g.244218372C>T						ZNF238_uc001iad.3_Silent_p.Y432Y|ZNF238_uc001iaf.1_3'UTR	p.Y423Y	NM_006352	NP_006343	Q99592	ZN238_HUMAN	all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)		1	1791	+	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		423			C2H2-type 2.|Interaction with DNMT3A.		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	c.1269C>T	CCDS1622.1																																																																																				0.627	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		7	76	0	0	0	0	7	76				
OR2L13	284521	broad.mit.edu	37	1	248263541	248263541	+	Silent	SNP	C	C	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr1:248263541C>A	ENST00000358120.2	+	2	1009	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000366478.2_Silent_p.I288I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATCCCATTATCTACAGCCTGA	0.493																																						uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(862-864)ATC>ATA		olfactory receptor, family 2, subfamily L,							66.0	68.0	67.0					1																	248263541		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263541C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.864C>A	1.37:g.248263541C>A							p.I288I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1201	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		288			Helical; Name=7; (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.864C>A	CCDS1637.1																																																																																				0.493	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		8	59	1	0	0.00448238	0.00534438	8	59				
ADARB2	105	broad.mit.edu	37	10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr10:1284215G>A	ENST00000381312.1	-	5	1665	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	447	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701																																						uc009xhq.2		NA																	0				large_intestine(2)|central_nervous_system(1)	3						c.(1339-1341)ACG>ATG		adenosine deaminase, RNA-specific, B2							24.0	24.0	24.0					10																	1284215		2199	4294	6493	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1284215G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1340C>T	10.37:g.1284215G>A	ENSP00000370713:p.Thr447Met						p.T447M	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	5	1714	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	447			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1340C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444837	0.83993	.	.	ENSG00000185736	ENST00000381312	D	0.93763	-3.28	5.64	5.64	0.86602	Adenosine deaminase/editase (3);	0.305278	0.37577	N	0.002025	D	0.90452	0.7010	L	0.41492	1.28	0.80722	D	1	B	0.33288	0.406	B	0.28385	0.089	D	0.89585	0.3823	10	0.66056	D	0.02	-9.3436	19.6902	0.95998	0.0:0.0:1.0:0.0	.	447	Q9NS39	RED2_HUMAN	M	447	ENSP00000370713:T447M	ENSP00000370713:T447M	T	-	2	0	ADARB2	1274215	0.995000	0.38212	0.085000	0.20634	0.712000	0.41017	6.460000	0.73518	2.656000	0.90262	0.407000	0.27541	ACG		0.701	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		4	19	0	0	0	0	4	19				
TMEM216	51259	broad.mit.edu	37	11	61165278	61165278	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr11:61165278C>T	ENST00000515837.2	+	4	1207	c.262C>T	c.(262-264)Ccg>Tcg	p.P88S	TMEM216_ENST00000398979.3_Missense_Mutation_p.P27S|TMEM216_ENST00000334888.5_Missense_Mutation_p.P88S			Q9P0N5	TM216_HUMAN	transmembrane protein 216	88					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						GCGAAAGATGCCGCTCAGTAT	0.552																																						uc010rlj.1		NA																	0					0						c.(241-243)CCG>TCG		transmembrane protein 216							164.0	158.0	160.0					11																	61165278		2080	4222	6302	SO:0001583	missense	51259					integral to membrane		g.chr11:61165278C>T		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.262C>T	11.37:g.61165278C>T	ENSP00000440638:p.Pro88Ser					TMEM216_uc001nrn.1_Missense_Mutation_p.P27S	p.P81S	NM_016499	NP_057583	Q9P0N5	TM216_HUMAN			4	534	+			81					A8MZ23|B7Z8N1	Missense_Mutation	SNP	ENST00000515837.2	37	c.241C>T	CCDS53640.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082173	0.36758	.	.	ENSG00000187049	ENST00000515837;ENST00000334888;ENST00000398979	D;D;D	0.87334	-2.24;-2.24;-2.24	5.74	4.83	0.62350	.	0.177162	0.51477	N	0.000094	D	0.83862	0.5346	L	0.60067	1.865	0.40651	D	0.982036	B;B	0.33318	0.134;0.408	B;B	0.31614	0.133;0.094	T	0.81961	-0.0693	10	0.30854	T	0.27	-17.4686	13.872	0.63624	0.0:0.9256:0.0:0.0744	.	81;27	Q9P0N5;Q9P0N5-2	TM216_HUMAN;.	S	88;88;27	ENSP00000440638:P88S;ENSP00000334844:P88S;ENSP00000381950:P27S	ENSP00000334844:P88S	P	+	1	0	TMEM216	60921854	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	2.219000	0.42899	1.433000	0.47394	-0.157000	0.13467	CCG		0.552	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499		4	124	0	0	0	0	4	124				
H3F3C	440093	broad.mit.edu	37	12	31944914	31944914	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:31944914G>A	ENST00000340398.3	-	1	261	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	63					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)	p.R63R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						GGCAGCTTCCGGATGAGCAGC	0.612										HNSCC(67;0.2)																												uc001rkr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(187-189)CGG>TGG		histone H3-like							83.0	78.0	80.0					12																	31944914		2203	4297	6500	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944914G>A	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.187C>T	12.37:g.31944914G>A	ENSP00000339835:p.Arg63Trp	HNSCC(67;0.2)					p.R63W	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	262	-			63					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.187C>T	CCDS31769.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811372	0.32053	.	.	ENSG00000188375	ENST00000340398	T	0.49139	0.79	0.998	-0.00401	0.14023	Histone-fold (2);Histone core (1);	1.924100	0.04033	U	0.301801	T	0.78698	0.4324	H	0.99379	4.54	0.36899	D	0.890329	D	0.69078	0.997	P	0.60012	0.867	T	0.66670	-0.5865	10	0.87932	D	0	.	5.3936	0.16257	0.228:0.0:0.772:0.0	.	63	Q6NXT2	H3C_HUMAN	W	63	ENSP00000339835:R63W	ENSP00000339835:R63W	R	-	1	2	H3F3C	31836181	1.000000	0.71417	0.001000	0.08648	0.069000	0.16628	4.847000	0.62867	0.010000	0.14839	0.413000	0.27773	CGG		0.612	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699		3	85	0	0	0	0	3	85				
SMARCC2	6601	broad.mit.edu	37	12	56572620	56572620	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:56572620C>T	ENST00000267064.4	-	13	1239	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	SMARCC2_ENST00000347471.4_Missense_Mutation_p.D385N|SMARCC2_ENST00000550164.1_Missense_Mutation_p.D385N|SMARCC2_ENST00000394023.3_Missense_Mutation_p.D385N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'Flank	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	385					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGCTTTCATCTTCCTGTTCA	0.483																																						uc001skb.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1153-1155)GAT>AAT		SWI/SNF-related matrix-associated							79.0	80.0	80.0					12																	56572620		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56572620C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1153G>A	12.37:g.56572620C>T	ENSP00000267064:p.Asp385Asn					SMARCC2_uc001skd.2_Missense_Mutation_p.D385N|SMARCC2_uc001ska.2_Missense_Mutation_p.D385N|SMARCC2_uc001skc.2_Missense_Mutation_p.D385N|SMARCC2_uc010sqf.1_Missense_Mutation_p.D274N	p.D385N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		13	1259	-			385					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1153G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487579	0.84854	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.49720	0.78;0.8;0.77	5.3	5.3	0.74995	.	0.059408	0.64402	D	0.000006	T	0.51652	0.1687	L	0.59436	1.845	0.54753	D	0.999987	P;P;P;P;P	0.44139	0.734;0.827;0.734;0.734;0.827	B;B;B;B;B	0.43386	0.239;0.418;0.239;0.239;0.418	T	0.57189	-0.7854	10	0.66056	D	0.02	-10.4814	18.1046	0.89516	0.0:1.0:0.0:0.0	.	274;385;390;385;385	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	N	385	ENSP00000449396:D385N;ENSP00000302919:D385N;ENSP00000267064:D385N	ENSP00000267064:D385N	D	-	1	0	SMARCC2	54858887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.595000	0.67563	2.647000	0.89833	0.650000	0.86243	GAT		0.483	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			4	46	0	0	0	0	4	46				
SMARCC2	6601	broad.mit.edu	37	12	56575490	56575490	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:56575490C>A	ENST00000267064.4	-	9	924	c.838G>T	c.(838-840)Gag>Tag	p.E280*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.E280*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.E280*|SMARCC2_ENST00000394023.3_Nonsense_Mutation_p.E280*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'Flank	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	280					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTTGTCACCTCATCTGTCAGT	0.433																																						uc001skb.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(838-840)GAG>TAG		SWI/SNF-related matrix-associated							182.0	166.0	171.0					12																	56575490		2203	4300	6503	SO:0001587	stop_gained	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56575490C>A	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.838G>T	12.37:g.56575490C>A	ENSP00000267064:p.Glu280*					SMARCC2_uc001skd.2_Nonsense_Mutation_p.E280*|SMARCC2_uc001ska.2_Nonsense_Mutation_p.E280*|SMARCC2_uc001skc.2_Nonsense_Mutation_p.E280*|SMARCC2_uc010sqf.1_Nonsense_Mutation_p.E169*	p.E280*	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		9	944	-			280					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Nonsense_Mutation	SNP	ENST00000267064.4	37	c.838G>T	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123042	0.94429	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	.	.	.	4.19	4.19	0.49359	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-21.9903	16.4956	0.84242	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000267064:E280X	E	-	1	0	SMARCC2	54861757	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.304000	0.78882	2.620000	0.88729	0.561000	0.74099	GAG		0.433	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			9	113	1	0	0.00621372	0.00726888	9	113				
PIWIL1	9271	broad.mit.edu	37	12	130840124	130840124	+	Missense_Mutation	SNP	G	G	A	rs552222799		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr12:130840124G>A	ENST00000245255.3	+	12	1588	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	439					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)		AGGGAGCTTCGAGACTGGGGT	0.393																																						uc001uik.2		NA																	0				ovary(2)	2						c.(1315-1317)CGA>CAA		piwi-like 1							205.0	213.0	210.0					12																	130840124		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.chr12:130840124G>A	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.1316G>A	12.37:g.130840124G>A	ENSP00000245255:p.Arg439Gln					PIWIL1_uc001uij.1_Missense_Mutation_p.R439Q	p.R439Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	12	1406	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		439					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.1316G>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560781	0.27827	.	.	ENSG00000125207	ENST00000245255	T	0.04083	3.71	5.48	4.59	0.56863	Ribonuclease H-like (1);	0.462111	0.24573	N	0.037365	T	0.03011	0.0089	N	0.16130	0.375	0.29383	N	0.863148	B;B	0.25235	0.007;0.121	B;B	0.16722	0.004;0.016	T	0.36163	-0.9759	10	0.18276	T	0.48	-10.8483	9.5798	0.39481	0.1581:0.0:0.8419:0.0	.	439;439	Q96J94;Q96J94-2	PIWL1_HUMAN;.	Q	439	ENSP00000245255:R439Q	ENSP00000245255:R439Q	R	+	2	0	PIWIL1	129406077	0.996000	0.38824	0.999000	0.59377	0.996000	0.88848	2.852000	0.48310	1.322000	0.45245	0.650000	0.86243	CGA		0.393	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			15	158	0	0	0	0	15	158				
AP5M1	55745	broad.mit.edu	37	14	57746958	57746958	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr14:57746958C>T	ENST00000261558.3	+	3	1172	c.766C>T	c.(766-768)Ctc>Ttc	p.L256F	AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.L270F	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	256	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											CAGCTTGAGTCTCCCCACCAA	0.398																																						uc001xcv.2		NA																	0				ovary(1)	1						c.(766-768)CTC>TTC		Mu-2 related death-inducing protein							306.0	277.0	287.0					14																	57746958		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57746958C>T	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.766C>T	14.37:g.57746958C>T	ENSP00000261558:p.Leu256Phe					MUDENG_uc010tri.1_Missense_Mutation_p.L10F|MUDENG_uc010trj.1_Missense_Mutation_p.L153F	p.L256F	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			3	1193	+			256			MHD.		O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.766C>T	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871951	0.91587	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.19669	2.13;2.13	6.17	6.17	0.99709	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.27365	-1.0076	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	256	Q9H0R1	MUDEN_HUMAN	F	256;270	ENSP00000261558:L256F;ENSP00000390531:L270F	ENSP00000261558:L256F	L	+	1	0	MUDENG	56816711	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.628000	0.61282	2.941000	0.99782	0.655000	0.94253	CTC		0.398	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		10	172	0	0	0	0	10	172				
EML5	161436	broad.mit.edu	37	14	89130941	89130941	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr14:89130941G>C	ENST00000380664.5	-	23	3304	c.3305C>G	c.(3304-3306)tCc>tGc	p.S1102C	EML5_ENST00000352093.5_Missense_Mutation_p.S1064C|EML5_ENST00000554922.1_Missense_Mutation_p.S1102C			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1102						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCTGTCATGGGATGCTACAGC	0.328																																						uc001xxg.2		NA																	0				ovary(3)	3						c.(3304-3306)TCC>TGC		echinoderm microtubule associated protein like							89.0	86.0	87.0					14																	89130941		1809	4071	5880	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89130941G>C	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3305C>G	14.37:g.89130941G>C	ENSP00000370039:p.Ser1102Cys					EML5_uc001xxf.2_Translation_Start_Site|EML5_uc001xxh.1_Missense_Mutation_p.S241C	p.S1102C	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			24	3491	-			1102			WD 18.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.3305C>G	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375995	0.82682	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.53640	0.61;1.76;0.61	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.76350	0.3975	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.81344	-0.0975	10	0.51188	T	0.08	-9.2205	17.9981	0.89191	0.0:0.0:1.0:0.0	.	1102;1102	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	C	1102;1064;1102	ENSP00000451998:S1102C;ENSP00000298315:S1064C;ENSP00000370039:S1102C	ENSP00000298315:S1064C	S	-	2	0	EML5	88200694	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.584000	0.87258	0.655000	0.94253	TCC		0.328	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			4	65	0	0	0	0	4	65				
HERC2	8924	broad.mit.edu	37	15	28538128	28538128	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr15:28538128C>T	ENST00000261609.7	-	4	336	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTTGTCATTCAGATCTTCTT	0.393																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(226-228)CTG>CTA		hect domain and RLD 2							49.0	50.0	50.0					15																	28538128		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28538128C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.228G>A	15.37:g.28538128C>T						HERC2_uc001zbl.1_5'UTR	p.L76L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	4	334	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	76						Silent	SNP	ENST00000261609.7	37	c.228G>A	CCDS10021.1																																																																																				0.393	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	71	0	0	0	0	8	71				
KIAA0556	23247	broad.mit.edu	37	16	27751578	27751578	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr16:27751578G>A	ENST00000261588.4	+	15	1979	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	654						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CGGGGACAAGGAGCTTGGTCT	0.507																																						uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(1960-1962)GAG>AAG		hypothetical protein LOC23247							65.0	63.0	64.0					16																	27751578		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27751578G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1960G>A	16.37:g.27751578G>A	ENSP00000261588:p.Glu654Lys						p.E654K	NM_015202	NP_056017	O60303	K0556_HUMAN			15	1984	+			654					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.1960G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240297	0.39598	.	.	ENSG00000047578	ENST00000261588	T	0.11277	2.79	5.14	3.16	0.36331	.	0.273281	0.30260	N	0.010038	T	0.11707	0.0285	L	0.56769	1.78	0.09310	N	1	B	0.20052	0.041	B	0.16722	0.016	T	0.18461	-1.0336	10	0.56958	D	0.05	-0.1984	8.3267	0.32162	0.0846:0.1554:0.7601:0.0	.	654	O60303	K0556_HUMAN	K	654	ENSP00000261588:E654K	ENSP00000261588:E654K	E	+	1	0	KIAA0556	27659079	0.027000	0.19231	0.001000	0.08648	0.018000	0.09664	1.406000	0.34646	0.555000	0.29079	0.655000	0.94253	GAG		0.507	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		6	68	0	0	0	0	6	68				
GSE1	23199	broad.mit.edu	37	16	85699645	85699645	+	Missense_Mutation	SNP	C	C	T	rs201518694		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr16:85699645C>T	ENST00000253458.7	+	13	2998	c.2822C>T	c.(2821-2823)tCt>tTt	p.S941F	GSE1_ENST00000393243.1_Missense_Mutation_p.S868F|GSE1_ENST00000405402.2_Missense_Mutation_p.S837F	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	941																	GCTTCCTTGTCTGACATCCCA	0.567																																						uc002fix.2		NA																	0				large_intestine(3)|ovary(1)|skin(1)	5						c.(2821-2823)TCT>TTT		genetic suppressor element 1 isoform 1							44.0	47.0	46.0					16																	85699645		2198	4300	6498	SO:0001583	missense	23199						protein binding	g.chr16:85699645C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2822C>T	16.37:g.85699645C>T	ENSP00000253458:p.Ser941Phe					KIAA0182_uc002fiw.2_Missense_Mutation_p.S837F|KIAA0182_uc002fiy.2_Missense_Mutation_p.S868F|KIAA0182_uc002fiz.2_Missense_Mutation_p.S83F|KIAA0182_uc010cho.2_Missense_Mutation_p.S121F	p.S941F	NM_014615	NP_055430	Q14687	GSE1_HUMAN			13	2896	+			941					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2822C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314654	0.60524	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.35048	1.33;1.34;1.33	5.52	5.52	0.82312	.	0.512703	0.21993	N	0.066122	T	0.41119	0.1145	N	0.19112	0.55	0.34983	D	0.754276	D;D;D;D	0.67145	0.981;0.996;0.996;0.993	P;P;P;P	0.61201	0.635;0.885;0.885;0.77	T	0.53429	-0.8440	10	0.59425	D	0.04	-2.8887	12.7391	0.57241	0.0:0.9251:0.0:0.0749	.	704;837;868;941	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	F	837;941;868	ENSP00000384839:S837F;ENSP00000253458:S941F;ENSP00000376934:S868F	ENSP00000253458:S941F	S	+	2	0	KIAA0182	84257146	0.729000	0.28090	0.950000	0.38849	0.239000	0.25481	4.581000	0.60949	2.586000	0.87340	0.561000	0.74099	TCT		0.567	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		3	44	0	0	0	0	3	44				
TRPV1	7442	broad.mit.edu	37	17	3470183	3470183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:3470183G>A	ENST00000571088.1	-	16	2659	c.2446C>T	c.(2446-2448)Cga>Tga	p.R816*	TRPV1_ENST00000174621.6_Nonsense_Mutation_p.R814*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R756*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R827*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R806*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R816*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R816*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R816*	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	816					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GAAAACTGTCGCAGATAAACT	0.547																																					Melanoma(38;962 1762 15789)	uc010vrr.1		NA																	0				ovary(1)	1						c.(2446-2448)CGA>TGA		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						46.0	48.0	48.0					17																	3470183		1954	4134	6088	SO:0001587	stop_gained	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3470183G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.2446C>T	17.37:g.3470183G>A	ENSP00000461007:p.Arg816*					TRPV1_uc010vro.1_Nonsense_Mutation_p.R827*|TRPV1_uc010vrp.1_Nonsense_Mutation_p.R756*|TRPV1_uc010vrq.1_Nonsense_Mutation_p.R814*|TRPV1_uc010vrs.1_Nonsense_Mutation_p.R816*|TRPV1_uc010vrt.1_Nonsense_Mutation_p.R816*|TRPV1_uc010vru.1_Nonsense_Mutation_p.R816*	p.R816*	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	15	2973	-			816			Cytoplasmic (Potential).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Nonsense_Mutation	SNP	ENST00000571088.1	37	c.2446C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	36	5.951555	0.97139	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000174621;ENST00000425167;ENST00000310522	.	.	.	5.47	4.38	0.52667	.	0.411836	0.22316	N	0.061675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.837	9.6606	0.39952	0.0:0.0:0.2125:0.7875	.	.	.	.	X	816;816;814;827;756	.	ENSP00000174621:R814X	R	-	1	2	TRPV1	3416933	0.995000	0.38212	0.757000	0.31301	0.006000	0.05464	2.066000	0.41452	1.007000	0.39238	-0.274000	0.10170	CGA		0.547	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		5	39	0	0	0	0	5	39				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	uc002gim.2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	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	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	50	0	0	0	0	13	50				
KCNJ12	3768	broad.mit.edu	37	17	21319866	21319866	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:21319866C>T	ENST00000583088.1	+	3	2107	c.1212C>T	c.(1210-1212)ctC>ctT	p.L404L	KCNJ12_ENST00000331718.5_Silent_p.L404L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	404					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GGGACGGCCTCAGCCCCCAGG	0.662										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(1210-1212)CTC>CTT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						37.0	38.0	38.0					17																	21319866		2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319866C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1212C>T	17.37:g.21319866C>T		Prostate(3;0.18)					p.L404L	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1917	+			404			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.1212C>T	CCDS11219.1																																																																																				0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	75	0	0	0	0	5	75				
PSMD3	5709	broad.mit.edu	37	17	38142872	38142872	+	Silent	SNP	A	A	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr17:38142872A>G	ENST00000264639.4	+	3	630	c.456A>G	c.(454-456)ggA>ggG	p.G152G	PSMD3_ENST00000541736.1_Silent_p.G14G	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	152					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCCGCACGGGAAAAGCTGCGT	0.512																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(454-456)GGA>GGG		proteasome 26S non-ATPase subunit 3							180.0	164.0	170.0					17																	38142872		2203	4300	6503	SO:0001819	synonymous_variant	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38142872A>G	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.456A>G	17.37:g.38142872A>G						PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.G53G	p.G152G	NM_002809	NP_002800	O43242	PSMD3_HUMAN			3	620	+	Colorectal(19;0.000442)		152					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Silent	SNP	ENST00000264639.4	37	c.456A>G	CCDS11356.1																																																																																				0.512	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		3	184	0	0	0	0	3	184				
SERPINB4	6318	broad.mit.edu	37	18	61309020	61309020	+	Missense_Mutation	SNP	C	C	T	rs267605228		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr18:61309020C>T	ENST00000341074.5	-	4	440	c.325G>A	c.(325-327)Gga>Aga	p.G109R	SERPINB4_ENST00000356424.6_Missense_Mutation_p.G109R	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	109					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G109*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GTCTTTTCTCCGAAGAGCTTG	0.413													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20596	0.0		0.0	False		,,,				2504	0.0					uc002ljf.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(325-327)GGA>AGA		serine (or cysteine) proteinase inhibitor, clade							237.0	219.0	225.0					18																	61309020		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61309020C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.325G>A	18.37:g.61309020C>T	ENSP00000343445:p.Gly109Arg					SERPINB4_uc002lje.2_Missense_Mutation_p.G109R|SERPINB4_uc002ljg.2_Intron	p.G109R	NM_002974	NP_002965	P48594	SPB4_HUMAN			4	411	-			109					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.325G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220669	0.58560	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.84873	-1.91;-1.91	3.76	1.93	0.25924	Serpin domain (3);	1.026050	0.07803	N	0.956916	D	0.91925	0.7443	M	0.92169	3.28	0.30751	N	0.745066	D;D	0.61080	0.975;0.989	P;P	0.55508	0.541;0.777	D	0.83714	0.0189	10	0.72032	D	0.01	.	8.7289	0.34487	0.0:0.8059:0.0:0.1941	.	109;109	P48594;Q9BYF7	SPB4_HUMAN;.	R	109	ENSP00000343445:G109R;ENSP00000348795:G109R	ENSP00000343445:G109R	G	-	1	0	SERPINB4	59460000	0.000000	0.05858	0.015000	0.15790	0.001000	0.01503	0.399000	0.20916	0.373000	0.24621	0.603000	0.83216	GGA		0.413	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		11	80	0	0	0	0	11	80				
ZNF208	7757	broad.mit.edu	37	19	22154658	22154658	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:22154658C>T	ENST00000397126.4	-	4	3326	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1060					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.463																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2794-2796)GAA>AAA		zinc finger protein 208																																				SO:0001583	missense	7757							g.chr19:22154658C>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3178G>A	19.37:g.22154658C>T	ENSP00000380315:p.Glu1060Lys					ZNF208_uc002nqo.1_Intron	p.E932K	NM_007153	NP_009084					6	2943	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2794G>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	0.763	-0.768410	0.02974	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.07216	3.21	2.59	-1.77	0.07982	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02767	0.0083	.	.	.	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.45687	-0.9244	8	0.06365	T	0.9	.	4.752	0.13064	0.0:0.3366:0.1598:0.5037	.	932	O43345	ZN208_HUMAN	K	1060;932	ENSP00000380315:E1060K	ENSP00000380315:E1060K	E	-	1	0	ZNF208	21946498	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-2.720000	0.00812	-0.410000	0.07542	0.297000	0.19635	GAA		0.463	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	145	0	0	0	0	8	145				
ZNF675	171392	broad.mit.edu	37	19	23836193	23836193	+	Silent	SNP	G	G	A	rs370219307		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:23836193G>A	ENST00000359788.4	-	4	1710	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	514				G -> S (in Ref. 1; AAK95822). {ECO:0000305}.	bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TAAAAGCTTTGCCACATTCTT	0.368																																						uc002nri.2		NA																	0				ovary(1)|kidney(1)	2						c.(1540-1542)GGC>GGT		zinc finger protein 675		G		1,4403		0,1,2201	53.0	56.0	55.0		1542	-1.6	0.8	19		55	0,8596		0,0,4298	no	coding-synonymous	ZNF675	NM_138330.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		514/569	23836193	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836193G>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1542C>T	19.37:g.23836193G>A							p.G514G	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	1724	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	514	G -> S (in Ref. 1; AAK95822).		C2H2-type 14.		Q8N211	Silent	SNP	ENST00000359788.4	37	c.1542C>T	CCDS32981.1																																																																																				0.368	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		7	35	0	0	0	0	7	35				
RINL	126432	broad.mit.edu	37	19	39361610	39361610	+	Silent	SNP	G	G	A	rs377414672		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:39361610G>A	ENST00000591812.1	-	8	710	c.624C>T	c.(622-624)caC>caT	p.H208H	RINL_ENST00000598904.1_Silent_p.H94H|RINL_ENST00000602238.1_5'Flank|RINL_ENST00000340740.3_Silent_p.H94H|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	208					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AGGAGACCCCGTGAGGCGCAG	0.672																																						uc002ojq.2		NA																	0				pancreas(1)	1						c.(280-282)CAC>CAT		Ras and Rab interactor-like		G	,	0,4404		0,0,2202	40.0	50.0	46.0		624,282	1.5	0.6	19		46	1,8579		0,1,4289	no	coding-synonymous,coding-synonymous	RINL	NM_001195833.1,NM_198445.3	,	0,1,6491	AA,AG,GG		0.0117,0.0,0.0077	,	208/567,94/453	39361610	1,12983	2202	4290	6492	SO:0001819	synonymous_variant	126432						GTPase activator activity	g.chr19:39361610G>A	AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.624C>T	19.37:g.39361610G>A						RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Silent_p.H208H	p.H94H	NM_198445	NP_940847	Q6ZS11	RINL_HUMAN			8	670	-			94					B4DPG5	Silent	SNP	ENST00000591812.1	37	c.282C>T	CCDS59386.1																																																																																				0.672	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1	NM_198445		13	96	0	0	0	0	13	96				
FCGBP	8857	broad.mit.edu	37	19	40368837	40368837	+	Missense_Mutation	SNP	C	C	T	rs371488968		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:40368837C>T	ENST00000221347.6	-	28	12518	c.12511G>A	c.(12511-12513)Gac>Aac	p.D4171N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4171	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCCGCCCGTCGGCCACGGAG	0.617																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(12511-12513)GAC>AAC		Fc fragment of IgG binding protein precursor		C	ASN/ASP	0,4406		0,0,2203	185.0	183.0	184.0		12511	2.3	0.0	19		184	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCGBP	NM_003890.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	4171/5406	40368837	1,13005	2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368837C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12511G>A	19.37:g.40368837C>T	ENSP00000221347:p.Asp4171Asn						p.D4171N	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12519	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4171			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12511G>A	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	9.721	1.159651	0.21454	0.0	1.16E-4	ENSG00000090920	ENST00000221347	T	0.58358	0.34	3.37	2.32	0.28847	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.33527	0.0866	N	0.16201	0.385	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.13308	-1.0514	9	0.12766	T	0.61	.	13.4776	0.61318	0.0:0.9065:0.0:0.0935	.	4171	Q9Y6R7	FCGBP_HUMAN	N	4171	ENSP00000221347:D4171N	ENSP00000221347:D4171N	D	-	1	0	FCGBP	45060677	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.947000	0.29082	0.442000	0.26555	-1.842000	0.00583	GAC		0.617	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	433	0	0	0	0	6	433				
PLA2G4C	8605	broad.mit.edu	37	19	48607904	48607904	+	Missense_Mutation	SNP	C	C	T	rs376584237		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:48607904C>T	ENST00000599921.1	-	4	555	c.198G>A	c.(196-198)atG>atA	p.M66I	PLA2G4C_ENST00000354276.3_Missense_Mutation_p.M66I|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.M76I|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.M66I			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	66	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCTGTTCTTTCATCTCACTCA	0.547																																						uc002phx.2		NA																	0				ovary(1)|skin(1)	2						c.(196-198)ATG>ATA		phospholipase A2, group IVC isoform 1 precursor							122.0	105.0	111.0					19																	48607904		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48607904C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.198G>A	19.37:g.48607904C>T	ENSP00000469473:p.Met66Ile					PLA2G4C_uc002phw.2_Missense_Mutation_p.M1I|PLA2G4C_uc010elr.2_Missense_Mutation_p.M66I|PLA2G4C_uc010xzd.1_Missense_Mutation_p.M76I|PLA2G4C_uc002phy.3_Missense_Mutation_p.M66I	p.M66I	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	4	596	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	66			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.198G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472321	0.26423	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04360	3.64;3.64	3.37	0.774	0.18521	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.488453	0.17687	N	0.165411	T	0.06917	0.0176	L	0.54323	1.7	0.09310	N	1	P;P;P	0.40578	0.722;0.562;0.562	B;B;B	0.42959	0.403;0.113;0.266	T	0.19451	-1.0305	10	0.52906	T	0.07	-5.7563	8.9389	0.35718	0.0:0.5537:0.4463:0.0	.	76;66;66	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	I	66	ENSP00000346228:M66I;ENSP00000400036:M66I	ENSP00000346228:M66I	M	-	3	0	PLA2G4C	53299716	0.023000	0.18921	0.032000	0.17829	0.769000	0.43574	0.156000	0.16382	0.488000	0.27723	0.404000	0.27445	ATG		0.547	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			9	95	0	0	0	0	9	95				
ZNF473	25888	broad.mit.edu	37	19	50548556	50548556	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr19:50548556C>G	ENST00000595661.1	+	6	1351	c.856C>G	c.(856-858)Cac>Gac	p.H286D	ZNF473_ENST00000445728.3_Missense_Mutation_p.H274D|ZNF473_ENST00000270617.3_Missense_Mutation_p.H286D|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.H286D			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	286					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGAAAACTCACACTGGAGA	0.428																																						uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(856-858)CAC>GAC		zinc finger protein 473							91.0	94.0	93.0					19																	50548556		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548556C>G	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.856C>G	19.37:g.50548556C>G	ENSP00000472808:p.His286Asp					ZNF473_uc002prm.2_Missense_Mutation_p.H286D|ZNF473_uc010ybo.1_Missense_Mutation_p.H274D	p.H286D	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1093	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	286			C2H2-type 2; degenerate.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.856C>G	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606014	0.28623	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.29142	1.58;1.58;1.58	4.06	2.98	0.34508	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.154983	0.30519	N	0.009444	T	0.42426	0.1202	M	0.93808	3.46	0.32444	N	0.546333	P	0.38992	0.653	B	0.34652	0.187	T	0.65619	-0.6124	10	0.87932	D	0	-13.519	11.8215	0.52240	0.0:0.8209:0.1791:0.0	.	286	Q8WTR7	ZN473_HUMAN	D	286;286;274	ENSP00000270617:H286D;ENSP00000375697:H286D;ENSP00000388961:H274D	ENSP00000270617:H286D	H	+	1	0	ZNF473	55240368	0.985000	0.35326	0.338000	0.25549	0.467000	0.32768	2.874000	0.48483	1.234000	0.43709	0.655000	0.94253	CAC		0.428	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		8	94	0	0	0	0	8	94				
NCK2	8440	broad.mit.edu	37	2	106497876	106497876	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:106497876G>A	ENST00000233154.4	+	4	761	c.319G>A	c.(319-321)Gac>Aac	p.D107N	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.D107N|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	107					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						CAGCGGCGCCGACCGCATCTA	0.682																																						uc002tdg.2		NA																	0				ovary(1)|lung(1)	2						c.(319-321)GAC>AAC		NCK adaptor protein 2 isoform A							44.0	41.0	42.0					2																	106497876		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106497876G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.319G>A	2.37:g.106497876G>A	ENSP00000233154:p.Asp107Asn					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.D107N	p.D107N	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	761	+			107					D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.319G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988208	0.74589	.	.	ENSG00000071051	ENST00000233154;ENST00000393348;ENST00000425756;ENST00000393349	T;T;T;T	0.70164	-0.46;1.77;1.62;-0.46	5.5	5.5	0.81552	.	0.043609	0.85682	D	0.000000	T	0.54711	0.1875	L	0.29908	0.895	0.80722	D	1	P	0.35272	0.493	B	0.26202	0.067	T	0.54022	-0.8355	10	0.33940	T	0.23	.	19.7625	0.96325	0.0:0.0:1.0:0.0	.	107	O43639	NCK2_HUMAN	N	107	ENSP00000233154:D107N;ENSP00000377017:D107N;ENSP00000408040:D107N;ENSP00000377018:D107N	ENSP00000233154:D107N	D	+	1	0	NCK2	105864308	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.405000	0.97313	2.747000	0.94245	0.462000	0.41574	GAC		0.682	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		9	56	0	0	0	0	9	56				
GLI2	2736	broad.mit.edu	37	2	121729595	121729595	+	Missense_Mutation	SNP	G	G	A	rs374155310		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:121729595G>A	ENST00000452319.1	+	8	1198	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.E52K|GLI2_ENST00000361492.4_Missense_Mutation_p.E380K					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGTCAAGACCGAGCCTGAGGG	0.647																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(1138-1140)GAG>AAG		GLI-Kruppel family member GLI2		G	LYS/GLU	0,4406		0,0,2203	60.0	57.0	58.0		1138	4.8	0.0	2		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLI2	NM_005270.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	380/1587	121729595	1,13005	2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121729595G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.1138G>A	2.37:g.121729595G>A	ENSP00000390436:p.Glu380Lys					GLI2_uc002tmq.1_Missense_Mutation_p.E52K|GLI2_uc002tmr.1_Missense_Mutation_p.E52K|GLI2_uc002tmt.3_Missense_Mutation_p.E52K|GLI2_uc002tmu.3_Missense_Mutation_p.E52K|GLI2_uc010flo.1_Missense_Mutation_p.E255K|GLI2_uc002tmw.1_Missense_Mutation_p.E380K	p.E380K	NM_005270	NP_005261	P10070	GLI2_HUMAN			7	1168	+	Renal(3;0.0496)	Prostate(154;0.0623)	380						Missense_Mutation	SNP	ENST00000452319.1	37	c.1138G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	35	5.497332	0.96355	0.0	1.16E-4	ENSG00000074047	ENST00000452319;ENST00000361492;ENST00000314490	T;T;T	0.17370	2.28;2.28;2.39	4.81	4.81	0.61882	.	0.107197	0.64402	D	0.000008	T	0.45135	0.1327	M	0.78049	2.395	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.976;1.0;0.999;0.995	D;B;D;D;P	0.80764	0.986;0.427;0.994;0.957;0.794	T	0.49011	-0.8983	10	0.87932	D	0	.	18.0581	0.89369	0.0:0.0:1.0:0.0	.	380;380;52;52;52	P10070;Q0VGA0;P10070-2;P10070-4;P10070-3	GLI2_HUMAN;.;.;.;.	K	380;380;52	ENSP00000390436:E380K;ENSP00000354586:E380K;ENSP00000312694:E52K	ENSP00000312694:E52K	E	+	1	0	GLI2	121446065	1.000000	0.71417	0.043000	0.18650	0.846000	0.48090	9.652000	0.98499	2.498000	0.84270	0.561000	0.74099	GAG		0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		9	62	0	0	0	0	9	62				
STAM2	10254	broad.mit.edu	37	2	153000432	153000432	+	Missense_Mutation	SNP	G	G	A	rs137997902		TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:153000432G>A	ENST00000263904.4	-	7	962	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	205	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CTCACTTTCCGTGCAACCTTA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		15693	0.0		0.001	False		,,,				2504	0.0					uc002tyc.3		NA																	0				ovary(1)	1						c.(613-615)CGG>TGG		signal transducing adaptor molecule 2		G	TRP/ARG	0,4406		0,0,2203	107.0	105.0	106.0		613	2.2	1.0	2	dbSNP_134	106	3,8583	3.0+/-9.4	0,3,4290	yes	missense	STAM2	NM_005843.4	101	0,3,6493	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	205/526	153000432	3,12989	2203	4293	6496	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:153000432G>A	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.613C>T	2.37:g.153000432G>A	ENSP00000263904:p.Arg205Trp					STAM2_uc010foa.1_Missense_Mutation_p.R205W|STAM2_uc002tyd.2_Missense_Mutation_p.R205W	p.R205W	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	7	963	-			205			SH3.		A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.613C>T	CCDS2196.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.13	2.442809	0.43326	0.0	3.49E-4	ENSG00000115145	ENST00000263904	T	0.30182	1.54	5.55	2.21	0.28008	Src homology-3 domain (4);	0.046751	0.85682	D	0.000000	T	0.44008	0.1273	L	0.48877	1.53	0.39874	D	0.973542	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.987	T	0.32428	-0.9907	10	0.87932	D	0	-7.1866	8.883	0.35387	0.0989:0.0:0.1811:0.72	.	205;205	O75886-2;O75886	.;STAM2_HUMAN	W	205	ENSP00000263904:R205W	ENSP00000263904:R205W	R	-	1	2	STAM2	152708678	0.677000	0.27577	0.992000	0.48379	0.485000	0.33311	1.103000	0.31062	0.176000	0.19873	-0.253000	0.11424	CGG		0.333	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		6	47	0	0	0	0	6	47				
INPP1	3628	broad.mit.edu	37	2	191235874	191235874	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:191235874G>T	ENST00000322522.4	+	6	1402	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	INPP1_ENST00000541441.1_Missense_Mutation_p.D316Y|INPP1_ENST00000392329.2_Missense_Mutation_p.D316Y	NM_002194.3	NP_002185.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	316					dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-1,3,4-trisphosphate 1-phosphatase activity (GO:0052829)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|metal ion binding (GO:0046872)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)			ATTCAAATGGGACTCTTGTGC	0.463																																					Melanoma(130;184 1743 2185 19805 38428)	uc002ury.3		NA																	0				ovary(1)|lung(1)	2						c.(946-948)GAC>TAC		inositol polyphosphate-1-phosphatase	Lithium(DB01356)						98.0	95.0	96.0					2																	191235874		2203	4300	6503	SO:0001583	missense	3628				signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	g.chr2:191235874G>T		CCDS2305.1	2q32	2008-02-07			ENSG00000151689	ENSG00000151689	3.1.3.57		6071	protein-coding gene	gene with protein product		147263				8390685	Standard	NM_002194		Approved		uc010fsb.3	P49441	OTTHUMG00000132672	ENST00000322522.4:c.946G>T	2.37:g.191235874G>T	ENSP00000325423:p.Asp316Tyr					INPP1_uc010fsb.2_Missense_Mutation_p.D316Y|INPP1_uc002urx.3_Missense_Mutation_p.D316Y	p.D316Y	NM_001128928	NP_001122400	P49441	INPP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		7	1646	+			316				Magnesium 2 (By similarity).|Substrate (By similarity).		Missense_Mutation	SNP	ENST00000322522.4	37	c.946G>T	CCDS2305.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464504	0.84425	.	.	ENSG00000151689	ENST00000392329;ENST00000322522;ENST00000541441	D;D;D	0.94537	-3.45;-3.45;-3.45	5.15	5.15	0.70609	Inositol monophosphatase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98444	1.0588	10	0.87932	D	0	-32.1979	16.2368	0.82380	0.0:0.0:1.0:0.0	.	316	P49441	INPP_HUMAN	Y	316	ENSP00000376142:D316Y;ENSP00000325423:D316Y;ENSP00000440650:D316Y	ENSP00000325423:D316Y	D	+	1	0	INPP1	190944119	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.528000	0.73807	2.694000	0.91930	0.449000	0.29647	GAC		0.463	INPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255932.2			5	94	1	0	5.94e-07	7.51e-07	5	94				
DNAJB2	3300	broad.mit.edu	37	2	220144591	220144591	+	Silent	SNP	A	A	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr2:220144591A>T	ENST00000336576.5	+	2	324	c.36A>T	c.(34-36)cgA>cgT	p.R12R	DNAJB2_ENST00000392086.4_Silent_p.R12R	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	12	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTGCCGCGAAGTGCGTCCG	0.592																																						uc002vkx.1		NA																	0					0						c.(34-36)CGA>CGT		DnaJ (Hsp40) homolog, subfamily B, member 2							96.0	86.0	89.0					2																	220144591		2203	4300	6503	SO:0001819	synonymous_variant	3300				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	g.chr2:220144591A>T		CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.36A>T	2.37:g.220144591A>T						DNAJB2_uc010zla.1_Silent_p.R12R|DNAJB2_uc002vkw.1_Silent_p.R12R|DNAJB2_uc002vky.2_5'Flank|DNAJB2_uc010zlb.1_5'Flank	p.R12R	NM_006736	NP_006727	P25686	DNJB2_HUMAN		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	273	+		Renal(207;0.0474)	12			J.		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	ENST00000336576.5	37	c.36A>T	CCDS2439.1																																																																																				0.592	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256823.2			15	60	0	0	0	0	15	60				
TRPM2	7226	broad.mit.edu	37	21	45837846	45837846	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr21:45837846G>C	ENST00000397928.1	+	21	3628	c.3183G>C	c.(3181-3183)caG>caC	p.Q1061H	AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000300482.5_Missense_Mutation_p.Q1061H|TRPM2_ENST00000300481.9_Missense_Mutation_p.Q1041H|TRPM2_ENST00000397932.2_Missense_Mutation_p.Q1061H|TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000423310.1_RNA	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1061					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACACGGACCAGATTTGGAAGT	0.612																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3181-3183)CAG>CAC		transient receptor potential cation channel,							65.0	57.0	60.0					21																	45837846		2203	4299	6502	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45837846G>C	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3183G>C	21.37:g.45837846G>C	ENSP00000381023:p.Gln1061His					TRPM2_uc002zeu.1_Missense_Mutation_p.Q1061H|TRPM2_uc002zew.1_Missense_Mutation_p.Q1061H|TRPM2_uc010gpt.1_Missense_Mutation_p.Q1061H|TRPM2_uc002zex.1_Missense_Mutation_p.Q847H|TRPM2_uc002zey.1_Missense_Mutation_p.Q574H|uc011afe.1_Intron	p.Q1061H	NM_003307	NP_003298	O94759	TRPM2_HUMAN			22	3396	+			1061			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.3183G>C	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.293630	0.60086	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	4.54	4.54	0.55810	.	0.245701	0.34853	N	0.003636	T	0.76912	0.4054	M	0.80746	2.51	0.45056	D	0.998071	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66979	0.948;0.948;0.948	T	0.79572	-0.1748	10	0.62326	D	0.03	-29.7519	11.2522	0.49032	0.0849:0.0:0.9151:0.0	.	1061;847;1061	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	H	1061;1061;1041;1061	ENSP00000300482:Q1061H;ENSP00000381023:Q1061H;ENSP00000300481:Q1041H;ENSP00000381026:Q1061H	ENSP00000300481:Q1041H	Q	+	3	2	TRPM2	44662274	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.211000	0.42825	2.253000	0.74438	0.455000	0.32223	CAG		0.612	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	66	0	0	0	0	4	66				
WDR48	57599	broad.mit.edu	37	3	39116272	39116272	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:39116272G>C	ENST00000302313.5	+	8	756	c.728G>C	c.(727-729)aGa>aCa	p.R243T	WDR48_ENST00000544962.1_Missense_Mutation_p.R35T|WDR48_ENST00000396258.3_Missense_Mutation_p.R161T|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	243					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGCCAGCAGAGATGTATAGCA	0.478																																						uc003cit.2		NA																	0				ovary(1)|breast(1)	2						c.(727-729)AGA>ACA		WD repeat domain 48							158.0	134.0	142.0					3																	39116272		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39116272G>C	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.728G>C	3.37:g.39116272G>C	ENSP00000307491:p.Arg243Thr					WDR48_uc011ayt.1_Missense_Mutation_p.R234T|WDR48_uc011ayu.1_Missense_Mutation_p.R161T|WDR48_uc011ayv.1_Missense_Mutation_p.R35T|WDR48_uc003ciu.2_RNA	p.R243T	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	8	738	+			243			WD 5.		B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.728G>C	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693268	0.88735	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;T;T	0.59083	2.21;0.29;2.26	6.01	5.14	0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.79614	2.46	0.80722	D	1	P;D;D;D	0.76494	0.557;0.997;0.997;0.999	B;D;D;D	0.70935	0.121;0.933;0.951;0.971	T	0.77843	-0.2437	10	0.49607	T	0.09	-27.4072	15.3861	0.74703	0.0666:0.0:0.9334:0.0	.	35;161;234;243	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	T	243;35;161	ENSP00000307491:R243T;ENSP00000445187:R35T;ENSP00000379557:R161T	ENSP00000307491:R243T	R	+	2	0	WDR48	39091276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.561000	0.49584	0.650000	0.86243	AGA		0.478	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		14	54	0	0	0	0	14	54				
EEFSEC	60678	broad.mit.edu	37	3	127983609	127983609	+	Silent	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr3:127983609G>A	ENST00000254730.6	+	4	825	c.771G>A	c.(769-771)gaG>gaA	p.E257E	EEFSEC_ENST00000483457.1_Intron	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	257					selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACAGTGTGGAGATCCCTGCCC	0.567																																						uc003eki.2		NA																	0				ovary(1)	1						c.(769-771)GAG>GAA		eukaryotic elongation factor,							174.0	114.0	134.0					3																	127983609		2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127983609G>A		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.771G>A	3.37:g.127983609G>A						EEFSEC_uc003ekj.2_Intron	p.E257E	NM_021937	NP_068756	P57772	SELB_HUMAN			4	809	+			257					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.771G>A	CCDS33849.1																																																																																				0.567	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937		7	58	0	0	0	0	7	58				
AFAP1	60312	broad.mit.edu	37	4	7840316	7840316	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:7840316G>C	ENST00000360265.4	-	5	895	c.661C>G	c.(661-663)Cag>Gag	p.Q221E	AFAP1_ENST00000358461.2_Missense_Mutation_p.Q221E|AFAP1_ENST00000420658.1_Missense_Mutation_p.Q221E|AFAP1_ENST00000382543.3_Missense_Mutation_p.Q221E			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	221	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTGCCCTGCTGAGTAATCTTC	0.532																																						uc003gkg.1		NA																	0					0						c.(661-663)CAG>GAG		actin filament associated protein 1							207.0	187.0	193.0					4																	7840316		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7840316G>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.661C>G	4.37:g.7840316G>C	ENSP00000353402:p.Gln221Glu					AFAP1_uc011bwk.1_Missense_Mutation_p.Q221E	p.Q221E	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			6	934	-			221			PH 1.		A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.661C>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307716	0.60305	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	4.37	4.37	0.52481	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.163218	0.53938	D	0.000055	T	0.12518	0.0304	L	0.29908	0.895	0.41235	D	0.986606	B;B	0.25206	0.12;0.071	B;B	0.27262	0.078;0.05	T	0.12293	-1.0553	10	0.27785	T	0.31	-36.63	17.1929	0.86885	0.0:0.0:1.0:0.0	.	221;221	E9PDT7;Q8N556	.;AFAP1_HUMAN	E	221	ENSP00000353402:Q221E;ENSP00000410689:Q221E;ENSP00000351245:Q221E;ENSP00000371983:Q221E	ENSP00000351245:Q221E	Q	-	1	0	AFAP1	7891216	1.000000	0.71417	0.893000	0.35052	0.902000	0.53008	8.918000	0.92759	2.296000	0.77279	0.585000	0.79938	CAG		0.532	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		3	77	0	0	0	0	3	77				
KCTD8	386617	broad.mit.edu	37	4	44450256	44450256	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:44450256C>T	ENST00000360029.3	-	1	568	c.285G>A	c.(283-285)gcG>gcA	p.A95A	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	95	BTB.				protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGAAGAAGCGCGCCCGGCTGT	0.667										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(283-285)GCG>GCA		potassium channel tetramerisation domain							11.0	14.0	13.0					4																	44450256		2187	4283	6470	SO:0001819	synonymous_variant	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450256C>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.285G>A	4.37:g.44450256C>T		HNSCC(17;0.042)					p.A95A	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	569	-			95			BTB.		A2RU39	Silent	SNP	ENST00000360029.3	37	c.285G>A	CCDS3467.1																																																																																				0.667	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			4	24	0	0	0	0	4	24				
NAA11	84779	broad.mit.edu	37	4	80246805	80246805	+	Missense_Mutation	SNP	G	G	A	rs200538315	byFrequency	TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:80246805G>A	ENST00000286794.4	-	1	399	c.227C>T	c.(226-228)gCc>gTc	p.A76V	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	76	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ACGCTTCACGGCCAGTGAGGT	0.562													G|||	20	0.00399361	0.0	0.0	5008	,	,		18577	0.0188		0.0	False		,,,				2504	0.001					uc003hlt.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(226-228)GCC>GTC		alpha-N-acetyltransferase 1B							88.0	89.0	89.0					4																	80246805		2166	4287	6453	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246805G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.227C>T	4.37:g.80246805G>A	ENSP00000286794:p.Ala76Val						p.A76V	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	367	-			76			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.227C>T	CCDS47084.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	26.2	4.717294	0.89205	.	.	ENSG00000156269	ENST00000286794	T	0.58210	0.35	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.66626	0.2808	M	0.85041	2.73	0.80722	D	1	D	0.56287	0.975	P	0.61722	0.893	T	0.73297	-0.4027	9	.	.	.	-17.2221	16.5838	0.84722	0.0:0.0:1.0:0.0	.	76	Q9BSU3	NAA11_HUMAN	V	76	ENSP00000286794:A76V	.	A	-	2	0	NAA11	80465829	1.000000	0.71417	0.344000	0.25628	0.729000	0.41735	8.682000	0.91232	2.861000	0.98227	0.655000	0.94253	GCC		0.562	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			10	96	0	0	0	0	10	96				
FAM13A	10144	broad.mit.edu	37	4	89950619	89950619	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:89950619G>A	ENST00000264344.5	-	2	416	c.209C>T	c.(208-210)aCg>aTg	p.T70M	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000515600.1_Missense_Mutation_p.T70M|FAM13A_ENST00000509094.1_Missense_Mutation_p.T70M|FAM13A_ENST00000511976.1_De_novo_Start_OutOfFrame	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	70	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCATGCTGCGTCAAATATTC	0.393																																						uc003hse.1		NA																	0				ovary(1)|liver(1)	2						c.(208-210)ACG>ATG		family with sequence similarity 13, member A1							152.0	147.0	148.0					4																	89950619		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89950619G>A	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.209C>T	4.37:g.89950619G>A	ENSP00000264344:p.Thr70Met					FAM13A_uc003hsf.1_Translation_Start_Site|FAM13A_uc003hsh.1_Translation_Start_Site|FAM13A_uc003hsi.2_Missense_Mutation_p.T70M|FAM13A_uc003hsj.2_Missense_Mutation_p.T70M	p.T70M	NM_014883	NP_055698	O94988	FA13A_HUMAN			2	417	-			70			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.209C>T	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.388208	0.25118	.	.	ENSG00000138640	ENST00000264344;ENST00000509094;ENST00000515600;ENST00000506913	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	3.74	1.95	0.26073	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.789398	0.11302	N	0.578125	T	0.29223	0.0727	L	0.41236	1.265	0.19775	N	0.999959	P;P	0.51449	0.945;0.938	P;B	0.57244	0.816;0.439	T	0.12528	-1.0544	9	.	.	.	.	9.0622	0.36442	0.0844:0.1491:0.7665:0.0	.	70;70	Q6P521;O94988	.;FA13A_HUMAN	M	70;70;70;80	ENSP00000264344:T70M;ENSP00000426517:T70M;ENSP00000422345:T70M;ENSP00000421269:T80M	.	T	-	2	0	FAM13A	90169642	0.008000	0.16893	0.198000	0.23420	0.138000	0.21146	0.212000	0.17497	0.533000	0.28675	0.591000	0.81541	ACG		0.393	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			4	152	0	0	0	0	4	152				
NPY5R	4889	broad.mit.edu	37	4	164272135	164272135	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr4:164272135G>A	ENST00000515560.1	+	4	2232	c.710G>A	c.(709-711)aGt>aAt	p.S237N	NPY5R_ENST00000506953.1_Missense_Mutation_p.S237N|NPY5R_ENST00000338566.3_Missense_Mutation_p.S237N			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	237					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTCTGCAGAAGTATAAGCTGT	0.368																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	0				lung(6)|skin(1)	7						c.(709-711)AGT>AAT		neuropeptide Y receptor Y5							64.0	63.0	63.0					4																	164272135		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272135G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.710G>A	4.37:g.164272135G>A	ENSP00000423917:p.Ser237Asn						p.S237N	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	892	+	all_hematologic(180;0.166)	Prostate(90;0.109)	237			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.710G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641363	0.29157	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.38560	1.13;1.13;1.13	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.084419	0.48286	D	0.000194	T	0.48205	0.1487	M	0.64404	1.975	0.45172	D	0.998188	B	0.27951	0.195	B	0.35770	0.21	T	0.50541	-0.8816	10	0.51188	T	0.08	.	17.6961	0.88282	0.0:0.0:1.0:0.0	.	237	Q15761	NPY5R_HUMAN	N	237	ENSP00000339377:S237N;ENSP00000423917:S237N;ENSP00000423474:S237N	ENSP00000339377:S237N	S	+	2	0	NPY5R	164491585	1.000000	0.71417	0.945000	0.38365	0.269000	0.26545	4.368000	0.59505	2.581000	0.87130	0.655000	0.94253	AGT		0.368	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		19	61	0	0	0	0	19	61				
VCAN	1462	broad.mit.edu	37	5	82817997	82817997	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:82817997C>G	ENST00000265077.3	+	7	4437	c.3872C>G	c.(3871-3873)aCa>aGa	p.T1291R	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T1243R|VCAN_ENST00000342785.4_Missense_Mutation_p.T1291R	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1291	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACACAGCCAACAAGACCACCC	0.478																																						uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3871-3873)ACA>AGA		versican isoform 1 precursor							72.0	72.0	72.0					5																	82817997		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817997C>G	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3872C>G	5.37:g.82817997C>G	ENSP00000265077:p.Thr1291Arg					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1291R|VCAN_uc003kik.3_Intron	p.T1291R	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4228	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1291			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3872C>G	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.946005	0.34377	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.91011	-2.77;-2.26;-2.29	5.81	4.93	0.64822	.	0.374257	0.26092	N	0.026395	D	0.92097	0.7495	M	0.63843	1.955	0.32652	N	0.519198	P;B	0.49185	0.92;0.005	P;B	0.51135	0.66;0.005	D	0.93904	0.7191	10	0.49607	T	0.09	.	16.0884	0.81073	0.135:0.865:0.0:0.0	.	1291;1291	P13611-3;P13611	.;CSPG2_HUMAN	R	1291;1291;1243	ENSP00000265077:T1291R;ENSP00000342768:T1291R;ENSP00000425959:T1243R	ENSP00000265077:T1291R	T	+	2	0	VCAN	82853753	1.000000	0.71417	0.987000	0.45799	0.024000	0.10985	3.525000	0.53502	1.424000	0.47217	0.655000	0.94253	ACA		0.478	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		13	86	0	0	0	0	13	86				
KDM3B	51780	broad.mit.edu	37	5	137727716	137727716	+	Silent	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:137727716C>T	ENST00000314358.5	+	8	2595	c.2395C>T	c.(2395-2397)Ctg>Ttg	p.L799L	KDM3B_ENST00000394866.1_Silent_p.L455L|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	799					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAGGTTCTCACTGGATGAACG	0.512																																						uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(2395-2397)CTG>TTG		jumonji domain containing 1B							119.0	132.0	128.0					5																	137727716		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727716C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2395C>T	5.37:g.137727716C>T						KDM3B_uc010jew.1_Silent_p.L455L|KDM3B_uc011cys.1_Intron	p.L799L	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2595	+			799					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.2395C>T	CCDS34242.1																																																																																				0.512	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		29	207	0	0	0	0	29	207				
CDHR2	54825	broad.mit.edu	37	5	176018404	176018404	+	Splice_Site	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr5:176018404G>A	ENST00000510636.1	+	30	3927		c.e30-1		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TTTCTCTCCAGAGCCAACCCC	0.577																																						uc003mem.1		NA																	0				ovary(2)	2						c.e30-1		protocadherin LKC precursor							81.0	72.0	75.0					5																	176018404		2203	4300	6503	SO:0001630	splice_region_variant	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176018404G>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3654-1G>A	5.37:g.176018404G>A						CDHR2_uc003men.1_Splice_Site_p.R1218_splice	p.R1218_splice	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			30	3720	+								A1L3U4|A6NC80|Q9NXP8	Splice_Site	SNP	ENST00000510636.1	37	c.3654_splice	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	g	14.29	2.490814	0.44249	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	3.38	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1979	0.59749	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR2	175951010	1.000000	0.71417	0.974000	0.42286	0.697000	0.40408	6.538000	0.73852	2.248000	0.74166	0.459000	0.35465	.		0.577	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	Intron	11	53	0	0	0	0	11	53				
VWA7	80737	broad.mit.edu	37	6	31736952	31736952	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:31736952G>C	ENST00000375688.4	-	10	1546	c.1346C>G	c.(1345-1347)tCa>tGa	p.S449*	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Nonsense_Mutation_p.S449*|VWA7_ENST00000375686.3_Nonsense_Mutation_p.S449*			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	449	VWFA.					extracellular region (GO:0005576)											CTGAACCCTTGATGTATCTTC	0.522																																						uc011dog.1		NA																	0				ovary(3)	3						c.(1345-1347)TCA>TGA		G7c protein precursor							146.0	108.0	121.0					6																	31736952		1511	2709	4220	SO:0001587	stop_gained	80737					extracellular region		g.chr6:31736952G>C		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1346C>G	6.37:g.31736952G>C	ENSP00000364840:p.Ser449*					C6orf27_uc003nxd.2_Nonsense_Mutation_p.S124*|C6orf27_uc011doh.1_RNA	p.S449*	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			10	1584	-			449					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	ENST00000375688.4	37	c.1346C>G	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	32	5.187102	0.94923	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	.	.	.	5.49	3.72	0.42706	.	0.296985	0.31797	N	0.007044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-2.5868	10.0833	0.42404	0.1644:0.0:0.8356:0.0	.	.	.	.	X	449	.	ENSP00000364838:S449X	S	-	2	0	C6orf27	31844931	0.038000	0.19896	0.003000	0.11579	0.184000	0.23303	1.877000	0.39598	0.700000	0.31782	0.462000	0.41574	TCA		0.522	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		4	66	0	0	0	0	4	66				
PTK7	5754	broad.mit.edu	37	6	43113061	43113061	+	Missense_Mutation	SNP	G	G	A	rs564810781	byFrequency	TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:43113061G>A	ENST00000230419.4	+	16	2752	c.2531G>A	c.(2530-2532)cGg>cAg	p.R844Q	PTK7_ENST00000352931.2_Missense_Mutation_p.R788Q|PTK7_ENST00000349241.2_Missense_Mutation_p.R714Q|PTK7_ENST00000481273.1_Missense_Mutation_p.R852Q|PTK7_ENST00000345201.2_Missense_Mutation_p.R804Q	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	844	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGGACTTCCGGAGGGAGTTG	0.602													G|||	6	0.00119808	0.0	0.0	5008	,	,		22198	0.0		0.0	False		,,,				2504	0.0061					uc003oub.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(2530-2532)CGG>CAG		PTK7 protein tyrosine kinase 7 isoform a							84.0	78.0	80.0					6																	43113061		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43113061G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2531G>A	6.37:g.43113061G>A	ENSP00000230419:p.Arg844Gln					PTK7_uc003ouc.1_Missense_Mutation_p.R788Q|PTK7_uc003oud.1_Missense_Mutation_p.R804Q|PTK7_uc003oue.1_Missense_Mutation_p.R714Q|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.R852Q|PTK7_uc010jyj.1_Missense_Mutation_p.R170Q	p.R844Q	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		16	2729	+			844			Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2531G>A	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.492603|5.492603	0.96339|0.96339	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000489707|ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339	.|D;D;D;D;D;D	.|0.82526	.|-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.71|5.71	5.71|5.71	0.89125|0.89125	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.121926	.|0.56097	.|D	.|0.000033	D|D	0.83825|0.83825	0.5338|0.5338	L|L	0.35288|0.35288	1.05|1.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.71674	.|0.968;0.973;0.998;0.995;0.991;0.996	.|P;P;D;P;P;P	.|0.67382	.|0.658;0.535;0.951;0.765;0.739;0.787	T|T	0.81536|0.81536	-0.0888|-0.0888	5|10	.|0.33141	.|T	.|0.24	.|.	19.8481|19.8481	0.96728|0.96728	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|852;170;714;804;788;844	.|E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308	.|.;.;.;.;.;PTK7_HUMAN	R|Q	139|844;170;714;788;804;852;112	.|ENSP00000230419:R844Q;ENSP00000325462:R714Q;ENSP00000326029:R788Q;ENSP00000325992:R804Q;ENSP00000418754:R852Q;ENSP00000420186:R112Q	.|ENSP00000230419:R844Q	G|R	+|+	1|2	0|0	PTK7|PTK7	43221039|43221039	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	6.753000|6.753000	0.74904|0.74904	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			13	52	0	0	0	0	13	52				
TXLNB	167838	broad.mit.edu	37	6	139609822	139609822	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr6:139609822G>C	ENST00000358430.3	-	2	447	c.215C>G	c.(214-216)tCt>tGt	p.S72C	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	72						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTGGCAGCAGACCCATAAGT	0.542																																						uc011eds.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(214-216)TCT>TGT		taxilin beta							131.0	128.0	129.0					6																	139609822		2203	4300	6503	SO:0001583	missense	167838					cytoplasm		g.chr6:139609822G>C		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.215C>G	6.37:g.139609822G>C	ENSP00000351206:p.Ser72Cys						p.S72C	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	2	380	-			72					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Missense_Mutation	SNP	ENST00000358430.3	37	c.215C>G	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815201	0.50527	.	.	ENSG00000164440	ENST00000358430	T	0.17691	2.26	6.07	6.07	0.98685	.	0.048536	0.85682	D	0.000000	T	0.34745	0.0908	M	0.68952	2.095	0.46149	D	0.998895	D	0.89917	1.0	D	0.71184	0.972	T	0.00660	-1.1622	9	.	.	.	-14.6308	20.6452	0.99591	0.0:0.0:1.0:0.0	.	72	Q8N3L3	TXLNB_HUMAN	C	72	ENSP00000351206:S72C	.	S	-	2	0	TXLNB	139651515	1.000000	0.71417	0.995000	0.50966	0.014000	0.08584	7.159000	0.77483	2.885000	0.99019	0.650000	0.86243	TCT		0.542	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		14	118	0	0	0	0	14	118				
AUTS2	26053	broad.mit.edu	37	7	70236612	70236612	+	Silent	SNP	A	A	G			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:70236612A>G	ENST00000342771.4	+	11	2133	c.1812A>G	c.(1810-1812)caA>caG	p.Q604Q	AUTS2_ENST00000406775.2_Silent_p.Q604Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	604										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTTCACTACAAGGAGCATTTC	0.567																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1810-1812)CAA>CAG		autism susceptibility candidate 2 isoform 1							102.0	90.0	94.0					7																	70236612		2203	4300	6503	SO:0001819	synonymous_variant	26053							g.chr7:70236612A>G	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1812A>G	7.37:g.70236612A>G						AUTS2_uc003tvx.3_Silent_p.Q604Q|AUTS2_uc011keg.1_Silent_p.Q56Q	p.Q604Q	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	11	2555	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	604					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.1812A>G	CCDS5539.1	.	.	.	.	.	.	.	.	.	.	A	7.112	0.576164	0.13623	.	.	ENSG00000158321	ENST00000443672	.	.	.	5.64	4.49	0.54785	.	.	.	.	.	T	0.62913	0.2467	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59941	-0.7359	4	.	.	.	-9.2128	11.4287	0.50027	0.9294:0.0:0.0706:0.0	.	.	.	.	R	131	.	.	K	+	2	0	AUTS2	69874548	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.217000	0.51184	0.984000	0.38629	0.528000	0.53228	AAG		0.567	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			8	99	0	0	0	0	8	99				
CADPS2	93664	broad.mit.edu	37	7	122194724	122194724	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:122194724G>C	ENST00000449022.2	-	8	1374	c.1355C>G	c.(1354-1356)tCt>tGt	p.S452C	CADPS2_ENST00000476131.1_5'UTR|CADPS2_ENST00000334010.7_Missense_Mutation_p.S452C|CADPS2_ENST00000412584.2_Missense_Mutation_p.S452C|CADPS2_ENST00000313070.7_Missense_Mutation_p.S452C	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	452					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGAGCTATTAGAAGTTGGGTA	0.358																																						uc010lkp.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1354-1356)TCT>TGT		Ca2+-dependent activator protein for secretion 2							95.0	83.0	87.0					7																	122194724		1825	4069	5894	SO:0001583	missense	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122194724G>C		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.1355C>G	7.37:g.122194724G>C	ENSP00000398481:p.Ser452Cys					CADPS2_uc003vkg.3_Missense_Mutation_p.S152C|CADPS2_uc010lkq.2_Missense_Mutation_p.S452C	p.S452C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN			8	1518	-			452					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	37	c.1355C>G	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.432886|4.432886	0.83776|0.83776	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022	.|T;T;T;T	.|0.72505	.|-0.66;-0.66;-0.66;-0.66	5.66|5.66	5.66|5.66	0.87406|0.87406	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.|0.065956	.|0.64402	.|D	.|0.000006	T|T	0.74261|0.74261	0.3693|0.3693	N|N	0.22421|0.22421	0.69|0.69	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D;D	.|0.63880	.|0.98;0.993;0.982	.|P;P;P	.|0.60789	.|0.879;0.72;0.639	T|T	0.74890|0.74890	-0.3510|-0.3510	5|10	.|0.45353	.|T	.|0.12	-7.7877|-7.7877	19.7589|19.7589	0.96306|0.96306	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|452;452;452	.|Q86UW7-2;Q86UW7;Q86UW7-3	.|.;CAPS2_HUMAN;.	L|C	100|452;452;452;419;452;452	.|ENSP00000325581:S452C;ENSP00000333940:S452C;ENSP00000400401:S452C;ENSP00000398481:S452C	.|ENSP00000325581:S452C	F|S	-|-	3|2	2|0	CADPS2|CADPS2	121981960|121981960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	9.675000|9.675000	0.98638|0.98638	2.654000|2.654000	0.90174|0.90174	0.585000|0.585000	0.79938|0.79938	TTC|TCT		0.358	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		4	31	0	0	0	0	4	31				
PODXL	5420	broad.mit.edu	37	7	131195709	131195709	+	Missense_Mutation	SNP	G	G	A	rs201547862	byFrequency	TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:131195709G>A	ENST00000378555.3	-	2	831	c.584C>T	c.(583-585)aCg>aTg	p.T195M	PODXL_ENST00000465001.1_5'Flank|PODXL_ENST00000537928.1_Missense_Mutation_p.T195M|PODXL_ENST00000322985.9_Missense_Mutation_p.T195M|PODXL_ENST00000541194.1_Missense_Mutation_p.T197M			O00592	PODXL_HUMAN	podocalyxin-like	195	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.T195M(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CACAGGATGCGTCGAAGTGGG	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		19184	0.002		0.0	False		,,,				2504	0.0					uc003vqw.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|pancreas(1)	3						c.(583-585)ACG>ATG		podocalyxin-like isoform 1 precursor							201.0	175.0	184.0					7																	131195709		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131195709G>A		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.584C>T	7.37:g.131195709G>A	ENSP00000367817:p.Thr195Met					PODXL_uc003vqx.3_Missense_Mutation_p.T195M	p.T195M	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			2	842	-	Melanoma(18;0.162)		195			Thr-rich.|Extracellular (Potential).		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.584C>T	CCDS34755.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.221	0.226232	0.09916	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.14144	2.55;2.53;2.55;2.74	3.29	-1.96	0.07525	.	4.568590	0.00424	N	0.000062	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	B;B	0.23058	0.079;0.019	B;B	0.09377	0.004;0.002	T	0.20739	-1.0266	10	0.33141	T	0.24	-2.2544	0.6211	0.00778	0.3215:0.1688:0.3373:0.1725	.	195;195	O00592-2;O00592	.;PODXL_HUMAN	M	197;195;185;195;195	ENSP00000440518:T197M;ENSP00000442655:T195M;ENSP00000367817:T195M;ENSP00000319782:T195M	ENSP00000319782:T195M	T	-	2	0	PODXL	130846249	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.034000	0.13776	-0.485000	0.06754	-1.020000	0.02445	ACG		0.537	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		6	81	0	0	0	0	6	81				
AOC1	26	broad.mit.edu	37	7	150553561	150553561	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr7:150553561G>A	ENST00000493429.1	+	4	587	c.3G>A	c.(1-3)atG>atA	p.M1I	AOC1_ENST00000467291.1_Start_Codon_SNP_p.M1I|AOC1_ENST00000360937.4_Start_Codon_SNP_p.M1I|AOC1_ENST00000416793.2_Start_Codon_SNP_p.M1I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	1					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	AGCGAGAGATGCCGGCCCTGG	0.607																																						uc003why.1		NA																	0				ovary(2)|breast(2)|skin(2)	6						c.(1-3)ATG>ATA		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						27.0	30.0	29.0					7																	150553561		1938	4133	6071	SO:0001582	initiator_codon_variant	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150553561G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.3G>A	7.37:g.150553561G>A	ENSP00000418614:p.Met1Ile					ABP1_uc003whz.1_Missense_Mutation_p.M1I|ABP1_uc003wia.1_Missense_Mutation_p.M1I	p.M1I	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4221	+	all_neural(206;0.219)		1					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.3G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	5.705	0.314673	0.10789	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000460213;ENST00000360937;ENST00000416793;ENST00000483043	T;T;T;T;T;T	0.10477	4.52;4.52;2.87;4.52;4.52;3.52	5.36	0.165	0.14995	.	1.049260	0.07657	U	0.932987	T	0.08626	0.0214	.	.	.	0.25042	N	0.991192	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39396	-0.9616	9	0.87932	D	0	-2.9812	4.9192	0.13862	0.1388:0.338:0.4382:0.0849	.	1;1	C9J690;P19801	.;ABP1_HUMAN	I	1	ENSP00000418614:M1I;ENSP00000418328:M1I;ENSP00000418557:M1I;ENSP00000354193:M1I;ENSP00000411613:M1I;ENSP00000417392:M1I	ENSP00000354193:M1I	M	+	3	0	ABP1	150184494	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.381000	0.07417	-0.261000	0.09405	-1.437000	0.01076	ATG		0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091	Missense_Mutation	6	48	0	0	0	0	6	48				
PTCH1	5727	broad.mit.edu	37	9	98220448	98220448	+	Silent	SNP	C	C	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chr9:98220448C>A	ENST00000331920.6	-	18	3314	c.3015G>T	c.(3013-3015)ggG>ggT	p.G1005G	PTCH1_ENST00000421141.1_Silent_p.G854G|PTCH1_ENST00000430669.2_Silent_p.G939G|PTCH1_ENST00000375274.2_Silent_p.G1004G|PTCH1_ENST00000437951.1_Silent_p.G939G|PTCH1_ENST00000418258.1_Silent_p.G854G|PTCH1_ENST00000429896.2_Silent_p.G854G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1005					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACTGGACAGCCCCAGGCTCG	0.567																																						uc004avk.3		NA																	1	Deletion - Frameshift(1)	p.I963fs*2(1)	central_nervous_system(1)	skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3013-3015)GGG>GGT		patched isoform L							86.0	75.0	79.0					9																	98220448		2203	4300	6503	SO:0001819	synonymous_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98220448C>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3015G>T	9.37:g.98220448C>A						PTCH1_uc010mro.2_Silent_p.G854G|PTCH1_uc010mrp.2_Silent_p.G854G|PTCH1_uc010mrq.2_Silent_p.G854G|PTCH1_uc004avl.3_Silent_p.G854G|PTCH1_uc010mrr.2_Silent_p.G939G|PTCH1_uc004avm.3_Silent_p.G1004G	p.G1005G	NM_000264	NP_000255	Q13635	PTC1_HUMAN			18	3203	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1005			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	c.3015G>T	CCDS6714.1																																																																																				0.567	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		22	68	1	0	0.000295444	0.000354532	22	68				
ASB12	142689	broad.mit.edu	37	X	63444272	63444272	+	Silent	SNP	G	G	A			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chrX:63444272G>A	ENST00000396130.2	-	2	872	c.873C>T	c.(871-873)gcC>gcT	p.A291A	ASB12_ENST00000362002.2_Silent_p.A300A|MTMR8_ENST00000453546.1_Silent_p.A675A			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	291	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						GCTGGTTGATGGCTTGTGGCT	0.507																																						uc011mou.1		NA																	2	Whole gene deletion(2)		ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(2023-2025)GCC>GCT		myotubularin related protein 8							126.0	98.0	107.0					X																	63444272		2203	4300	6503	SO:0001819	synonymous_variant	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444272G>A	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.873C>T	X.37:g.63444272G>A						ASB12_uc004dvp.1_Silent_p.A291A|ASB12_uc004dvq.1_Silent_p.A300A|ASB12_uc004dvr.1_Silent_p.A300A	p.A675A	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			11	2093	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Silent	SNP	ENST00000396130.2	37	c.2025C>T																																																																																					0.507	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	36	0	0	0	0	4	36				
NKAP	79576	broad.mit.edu	37	X	119077227	119077227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7397-01A-11D-2012-08	TCGA-CR-7397-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b93863c2-4657-4ca2-8fce-094fe5df163a	acce94e0-e7f7-45af-adb3-fc1611312cbd	g.chrX:119077227C>T	ENST00000371410.3	-	1	508	c.342G>A	c.(340-342)tgG>tgA	p.W114*		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	114					granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGAGGCTAGGCCAAGGCTTGT	0.637																																						uc004esh.2		NA																	0				ovary(2)	2						c.(340-342)TGG>TGA		NFKB activating protein							35.0	35.0	35.0					X																	119077227		2188	4259	6447	SO:0001587	stop_gained	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119077227C>T	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.342G>A	X.37:g.119077227C>T	ENSP00000360464:p.Trp114*						p.W114*	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			1	509	-			114					Q6IPW6|Q96BQ2|Q9H638	Nonsense_Mutation	SNP	ENST00000371410.3	37	c.342G>A	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	c	31	5.101332	0.94245	.	.	ENSG00000101882	ENST00000371410	.	.	.	3.87	3.87	0.44632	.	0.378221	0.31697	N	0.007201	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.273	12.4758	0.55811	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000360464:W114X	W	-	3	0	NKAP	118961255	1.000000	0.71417	0.997000	0.53966	0.238000	0.25445	2.267000	0.43329	2.196000	0.70406	0.513000	0.50165	TGG		0.637	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		8	39	0	0	0	0	8	39				
