#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C6	729	broad.mit.edu	37	5	41203312	41203312	+	Missense_Mutation	SNP	C	C	G	rs377251152		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:41203312C>G	ENST00000263413.3	-	2	285	c.21G>C	c.(19-21)ttG>ttC	p.L7F	C6_ENST00000337836.5_Missense_Mutation_p.L7F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	7					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGATGAAGTACAAGACAGAGC	0.448																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(19-21)ttG>ttC		complement component 6							136.0	126.0	130.0					5																	41203312		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41203312C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.21G>C	5.37:g.41203312C>G	ENSP00000263413:p.Leu7Phe					C6_ENST00000337836.5_Missense_Mutation_p.L7F	p.L7F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			2	285	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	7						Missense_Mutation	SNP	ENST00000263413.3	37	c.21G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.655842	0.29425	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809;ENST00000433294	T;T;T	0.63913	-0.07;-0.07;1.52	5.92	3.23	0.37069	.	0.195197	0.38663	N	0.001601	T	0.62036	0.2395	M	0.71581	2.175	0.31036	N	0.716865	P	0.50066	0.931	P	0.44732	0.459	T	0.66917	-0.5802	10	0.62326	D	0.03	-11.2182	9.8129	0.40835	0.0:0.7517:0.0:0.2482	.	7	P13671	CO6_HUMAN	F	7	ENSP00000338861:L7F;ENSP00000263413:L7F;ENSP00000396565:L7F	ENSP00000263413:L7F	L	-	3	2	C6	41239069	0.001000	0.12720	0.923000	0.36655	0.587000	0.36485	-0.309000	0.08145	0.425000	0.26087	0.585000	0.79938	TTG		0.448	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			6	123	0	0	0	1	0	6	123				
TXNRD2	10587	broad.mit.edu	37	22	19868237	19868237	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:19868237G>A	ENST00000400521.1	-	13	1096	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	TXNRD2_ENST00000542719.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400519.1_Missense_Mutation_p.R363W|TXNRD2_ENST00000535882.1_Missense_Mutation_p.R363W|TXNRD2_ENST00000400518.1_Missense_Mutation_p.R334W	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	364					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGCTCAGGCCGCCCCTTGGGG	0.627																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1087-1089)Cgg>Tgg		thioredoxin reductase 2							28.0	34.0	32.0					22																	19868237		2051	4190	6241	SO:0001583	missense	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19868237G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1090C>T	22.37:g.19868237G>A	ENSP00000383365:p.Arg364Trp					TXNRD2_ENST00000400519.1_Missense_Mutation_p.R363W|TXNRD2_ENST00000400518.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400525.1_Missense_Mutation_p.R341W|TXNRD2_ENST00000542719.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400521.1_Missense_Mutation_p.R364W	p.R363W			Q9NNW7	TRXR2_HUMAN			13	1086	-	Colorectal(54;0.0993)		364					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	ENST00000400521.1	37	c.1087C>T	CCDS42981.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651886	0.88056	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.38	5.38	0.77491	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.115836	0.64402	D	0.000014	T	0.77308	0.4111	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.80883	-0.1183	10	0.72032	D	0.01	-14.0124	18.2813	0.90099	0.0:0.0:1.0:0.0	.	364;363;341	Q9NNW7;D3YTF9;D3YTF8	TRXR2_HUMAN;.;.	W	334;364;364;341;268;363;363;334	ENSP00000383362:R334W;ENSP00000383365:R364W;ENSP00000383369:R341W;ENSP00000383363:R363W;ENSP00000439314:R363W;ENSP00000439570:R334W	ENSP00000383362:R334W	R	-	1	2	TXNRD2	18248237	1.000000	0.71417	1.000000	0.80357	0.401000	0.30781	6.352000	0.73027	2.700000	0.92200	0.462000	0.41574	CGG		0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		3	29	0	0	0	1	0	3	29				
SLCO2A1	6578	broad.mit.edu	37	3	133670173	133670173	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:133670173A>G	ENST00000310926.4	-	6	1013	c.740T>C	c.(739-741)gTc>gCc	p.V247A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V171A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	247					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GTCACCCGGGACCAAGTTAAC	0.478																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(739-741)gTc>gCc		solute carrier organic anion transporter family, member 2A1							73.0	77.0	75.0					3																	133670173		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670173A>G		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.740T>C	3.37:g.133670173A>G	ENSP00000311291:p.Val247Ala					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V171A	p.V247A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1013	-			247					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.740T>C	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792388	0.31685	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.37752	1.18;1.18	4.79	2.95	0.34219	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.494108	0.21725	N	0.070075	T	0.14056	0.0340	N	0.03608	-0.345	0.20196	N	0.999923	B;B;B	0.14438	0.01;0.005;0.001	B;B;B	0.17979	0.02;0.006;0.0	T	0.11842	-1.0571	10	0.72032	D	0.01	.	1.939	0.03342	0.1549:0.3724:0.3109:0.1619	.	247;171;247	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	A	247;171	ENSP00000311291:V247A;ENSP00000418893:V171A	ENSP00000311291:V247A	V	-	2	0	SLCO2A1	135152863	1.000000	0.71417	0.998000	0.56505	0.749000	0.42624	1.059000	0.30517	0.983000	0.38602	-0.505000	0.04504	GTC		0.478	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		13	49	0	0	0	1	0	13	49				
MAGEA8	4107	broad.mit.edu	37	X	149013642	149013642	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:149013642C>A	ENST00000542674.1	+	3	1117	c.596C>A	c.(595-597)aCg>aAg	p.T199K	MAGEA8_ENST00000286482.1_Missense_Mutation_p.T199K|MAGEA8_ENST00000535454.1_Missense_Mutation_p.T199K	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	199	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGAGTACGCCCAAGACC	0.592																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(595-597)aCg>aAg		melanoma antigen family A, 8							74.0	65.0	68.0					X																	149013642		2203	4298	6501	SO:0001583	missense	4107							g.chrX:149013642C>A		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.596C>A	X.37:g.149013642C>A	ENSP00000443776:p.Thr199Lys					MAGEA8_ENST00000286482.1_Missense_Mutation_p.T199K|MAGEA8_ENST00000542674.1_Missense_Mutation_p.T199K	p.T199K	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	1145	+	Acute lymphoblastic leukemia(192;6.56e-05)		199			MAGE.		Q9BUN9	Missense_Mutation	SNP	ENST00000542674.1	37	c.596C>A	CCDS14692.1	.	.	.	.	.	.	.	.	.	.	.	12.09	1.834421	0.32421	.	.	ENSG00000156009	ENST00000535454;ENST00000542674;ENST00000286482	T;T;T	0.05382	3.45;3.45;3.45	0.963	-0.96	0.10340	.	1.314940	0.04670	N	0.410550	T	0.06416	0.0165	N	0.24115	0.695	0.09310	N	1	P	0.39044	0.656	B	0.43754	0.43	T	0.30707	-0.9969	10	0.87932	D	0	.	3.4106	0.07357	0.0:0.4667:0.0:0.5333	.	199	P43361	MAGA8_HUMAN	K	199	ENSP00000438293:T199K;ENSP00000443776:T199K;ENSP00000286482:T199K	ENSP00000286482:T199K	T	+	2	0	MAGEA8	148774300	0.001000	0.12720	0.022000	0.16811	0.229000	0.25112	0.317000	0.19487	-0.383000	0.07858	0.181000	0.17075	ACG		0.592	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		35	60	1	0	2.47316e-13	1	2.65194e-13	35	60				
CTSF	8722	broad.mit.edu	37	11	66330634	66330634	+	IGR	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:66330634C>T	ENST00000310325.5	-	0	2035				ACTN3_ENST00000513398.1_RNA|CTD-3074O7.2_ENST00000504911.1_lincRNA|ACTN3_ENST00000502692.1_RNA	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGGCCTTCTCCAGTGCCCTCT	0.627																																						ENST00000502692.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							43.0	46.0	45.0					11																	66330634		1980	4141	6121	SO:0001628	intergenic_variant	89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66330634C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090		11.37:g.66330634C>T						ACTN3_ENST00000513398.1_RNA		NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN			0	2921	+								B2R964|O95240|Q9NSU4|Q9UKQ5	RNA	SNP	ENST00000310325.5	37		CCDS8144.1																																																																																				0.627	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793		38	41	0	0	0	1	0	38	41				
MAG	4099	broad.mit.edu	37	19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:35793494G>A	ENST00000392213.3	+	7	1273	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000537831.2_Missense_Mutation_p.E347K|MAG_ENST00000361922.4_Missense_Mutation_p.E372K	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1114-1116)Gag>Aag		myelin associated glycoprotein							110.0	92.0	98.0					19																	35793494		2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35793494G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1114G>A	19.37:g.35793494G>A	ENSP00000376048:p.Glu372Lys					MAG_ENST00000537831.2_Missense_Mutation_p.E347K|MAG_ENST00000392213.3_Missense_Mutation_p.E372K	p.E372K	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1264	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	372			Ig-like C2-type 3.		B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1114G>A	CCDS12455.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.904761	0.72868	.	.	ENSG00000105695	ENST00000262624;ENST00000361922;ENST00000392213;ENST00000537831	T;T;T	0.77750	-1.12;-1.12;-1.12	5.14	5.14	0.70334	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.053488	0.64402	D	0.000001	T	0.76528	0.4000	L	0.28115	0.83	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.997	P;P;P	0.59424	0.857;0.689;0.852	T	0.71038	-0.4708	10	0.09843	T	0.71	.	16.0851	0.81042	0.0:0.0:1.0:0.0	.	409;372;372	Q59GD9;P20916;Q567S4	.;MAG_HUMAN;.	K	409;372;372;347	ENSP00000355234:E372K;ENSP00000376048:E372K;ENSP00000440695:E347K	ENSP00000262624:E409K	E	+	1	0	MAG	40485334	1.000000	0.71417	0.995000	0.50966	0.645000	0.38454	4.820000	0.62671	2.381000	0.81170	0.455000	0.32223	GAG		0.587	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		9	101	0	0	0	1	0	9	101				
TDRD6	221400	broad.mit.edu	37	6	46659874	46659874	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:46659874A>G	ENST00000316081.6	+	1	4009	c.4009A>G	c.(4009-4011)Aga>Gga	p.R1337G	TDRD6_ENST00000544460.1_Missense_Mutation_p.R1337G	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1337					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTTTCAGAGAGATTAAACAG	0.323																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4009-4011)Aga>Gga		tudor domain containing 6							88.0	92.0	91.0					6																	46659874		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46659874A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4009A>G	6.37:g.46659874A>G	ENSP00000346065:p.Arg1337Gly					TDRD6_ENST00000316081.6_Missense_Mutation_p.R1337G	p.R1337G	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4263	+			1337					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4009A>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262237	0.39995	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09538	2.97;2.97	5.92	5.92	0.95590	Maternal tudor protein (1);	0.274679	0.43416	D	0.000567	T	0.11495	0.0280	L	0.54323	1.7	0.33254	D	0.558892	P;P	0.47034	0.865;0.889	P;P	0.53401	0.604;0.725	T	0.07868	-1.0750	10	0.32370	T	0.25	-8.494	13.3904	0.60821	0.8693:0.1307:0.0:0.0	.	1337;1337	F5H5M3;O60522	.;TDRD6_HUMAN	G	1337	ENSP00000443299:R1337G;ENSP00000346065:R1337G	ENSP00000346065:R1337G	R	+	1	2	TDRD6	46767833	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	2.196000	0.42686	2.263000	0.75096	0.533000	0.62120	AGA		0.323	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		7	106	0	0	0	1	0	7	106				
MORC1	27136	broad.mit.edu	37	3	108788570	108788570	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:108788570A>C	ENST00000483760.1	-	9	767	c.724T>G	c.(724-726)Tct>Gct	p.S242A	MORC1_ENST00000232603.5_Missense_Mutation_p.S242A					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(724-726)Tct>Gct		MORC family CW-type zinc finger 1							104.0	101.0	102.0					3																	108788570		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108788570A>C	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.724T>G	3.37:g.108788570A>C	ENSP00000417282:p.Ser242Ala					MORC1_ENST00000483760.1_Missense_Mutation_p.S242A	p.S242A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			9	806	-			242						Missense_Mutation	SNP	ENST00000483760.1	37	c.724T>G		.	.	.	.	.	.	.	.	.	.	A	7.337	0.620138	0.14193	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.73681	-0.77;-0.77	4.93	3.76	0.43208	ATPase-like, ATP-binding domain (1);	0.145347	0.32608	N	0.005871	T	0.59569	0.2203	L	0.38838	1.175	0.28756	N	0.901191	B;B	0.18310	0.025;0.027	B;B	0.19946	0.018;0.027	T	0.45483	-0.9258	10	0.09590	T	0.72	-12.3128	9.2914	0.37789	0.6277:0.3723:0.0:0.0	.	242;242	E7ERX1;Q86VD1	.;MORC1_HUMAN	A	242	ENSP00000232603:S242A;ENSP00000417282:S242A	ENSP00000232603:S242A	S	-	1	0	MORC1	110271260	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.339000	0.52135	0.985000	0.38656	0.533000	0.62120	TCT		0.378	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			26	38	0	0	0	1	0	26	38				
MUC16	94025	broad.mit.edu	37	19	9086638	9086638	+	Missense_Mutation	SNP	T	T	C	rs76669928	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:9086638T>C	ENST00000397910.4	-	1	5380	c.5177A>G	c.(5176-5178)cAg>cGg	p.Q1726R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1726	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTATTTCCCTGTGTGTTCAG	0.483													T|||	2	0.000399361	0.0	0.0	5008	,	,		22556	0.002		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5176-5178)cAg>cGg		mucin 16, cell surface associated							151.0	142.0	145.0					19																	9086638		1983	4185	6168	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086638T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5177A>G	19.37:g.9086638T>C	ENSP00000381008:p.Gln1726Arg						p.Q1726R	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	5380	-			1726			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.5177A>G	CCDS54212.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	t	1.178	-0.638837	0.03557	.	.	ENSG00000181143	ENST00000397910	T	0.02323	4.34	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01156	0.0038	N	0.08118	0	.	.	.	P	0.39809	0.689	B	0.25987	0.065	T	0.43180	-0.9407	8	0.87932	D	0	.	3.1093	0.06352	0.2355:0.0:0.4653:0.2993	.	1726	B5ME49	.	R	1726	ENSP00000381008:Q1726R	ENSP00000381008:Q1726R	Q	-	2	0	MUC16	8947638	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.654000	0.00402	-1.501000	0.01817	0.260000	0.18958	CAG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	105	0	0	0	1	0	4	105				
HCFC1	3054	broad.mit.edu	37	X	153225450	153225450	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:153225450G>C	ENST00000310441.7	-	8	2213	c.1247C>G	c.(1246-1248)cCg>cGg	p.P416R	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Intron|HCFC1_ENST00000369984.4_Missense_Mutation_p.P416R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGGACCGGATTGGGTGT	0.637																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1246-1248)cCg>cGg		host cell factor C1 (VP16-accessory protein)							68.0	77.0	74.0					X																	153225450		2065	4171	6236	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153225450G>C		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1247C>G	X.37:g.153225450G>C	ENSP00000309555:p.Pro416Arg					HCFC1_ENST00000369984.4_Missense_Mutation_p.P416R|HCFC1_ENST00000354233.3_Intron	p.P416R	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			8	2213	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		416					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.1247C>G	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501431	0.85176	.	.	ENSG00000172534	ENST00000310441;ENST00000369984	T;T	0.03152	4.04;4.03	5.39	5.39	0.77823	Fibronectin, type III (1);	0.106899	0.64402	D	0.000005	T	0.09949	0.0244	L	0.50333	1.59	0.80722	D	1	D	0.60575	0.988	P	0.53360	0.724	T	0.07673	-1.0760	10	0.40728	T	0.16	.	16.8686	0.86035	0.0:0.0:1.0:0.0	.	416	P51610	HCFC1_HUMAN	R	416	ENSP00000309555:P416R;ENSP00000359001:P416R	ENSP00000309555:P416R	P	-	2	0	HCFC1	152878644	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.244000	0.95423	2.244000	0.73946	0.600000	0.82982	CCG		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		32	104	0	0	0	1	0	32	104				
LTBR	4055	broad.mit.edu	37	12	6494236	6494236	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr12:6494236C>T	ENST00000228918.4	+	3	568	c.242C>T	c.(241-243)gCc>gTc	p.A81V	LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.A62V|LTBR_ENST00000541102.1_5'Flank	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	81					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ACAGTTTGTGCCACATGTGCC	0.587																																						ENST00000228918.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(241-243)gCc>gTc		lymphotoxin beta receptor (TNFR superfamily, member 3)							140.0	129.0	133.0					12																	6494236		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6494236C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.242C>T	12.37:g.6494236C>T	ENSP00000228918:p.Ala81Val					LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.A62V	p.A81V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN			3	568	+			81					B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.242C>T	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549712	0.45383	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000536876	T;T;T	0.69806	-0.43;-0.43;-0.43	4.64	3.72	0.42706	.	0.671765	0.13866	N	0.357310	T	0.52677	0.1749	L	0.35793	1.09	0.31159	N	0.704527	P;P;P	0.43938	0.822;0.51;0.483	B;B;B	0.38225	0.268;0.098;0.084	T	0.52034	-0.8629	10	0.25751	T	0.34	0.0217	9.6488	0.39883	0.2177:0.7823:0.0:0.0	.	62;62;81	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	V	62;81;76	ENSP00000440875:A62V;ENSP00000228918:A81V;ENSP00000437647:A76V	ENSP00000228918:A81V	A	+	2	0	LTBR	6364497	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.517000	0.22832	0.863000	0.35553	0.561000	0.74099	GCC		0.587	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			5	417	0	0	0	1	0	5	417				
AKAP9	10142	broad.mit.edu	37	7	91631134	91631134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:91631134G>T	ENST00000359028.2	+	9	2164	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E635*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E647*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	647	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGTCACGAAGAAGAGCTTTC	0.328			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(1939-1941)Gaa>Taa		A kinase (PRKA) anchor protein 9							53.0	57.0	56.0					7																	91631134		2202	4300	6502	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631134G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1939G>T	7.37:g.91631134G>T	ENSP00000351922:p.Glu647*					AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E635*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E647*	p.E647*			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2164	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		647			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.1939G>T		.	.	.	.	.	.	.	.	.	.	G	39	7.888651	0.98545	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	5.49	5.49	0.81192	.	0.000000	0.42964	D	0.000636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	.	.	.	X	635;647;647;647;647	.	ENSP00000348573:E635X	E	+	1	0	AKAP9	91469070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.775000	0.98995	2.758000	0.94735	0.650000	0.86243	GAA		0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		46	59	1	0	1.06522e-23	1	1.17043e-23	46	59				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	100	0	0	0	1	0	4	100				
GCSAML	148823	broad.mit.edu	37	1	247712382	247712382	+	5'Flank	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:247712382C>T	ENST00000366488.4	+	0	0				GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000366490.3_Missense_Mutation_p.P84L|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000536561.1_5'Flank|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_5'UTR	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		GAGCACGAACCCGTGGTCAGA	0.547																																						ENST00000366490.3																			0											c.(250-252)cCc>cTc		germinal center-associated, signaling and motility-like																																				SO:0001631	upstream_gene_variant	148823							g.chr1:247712382C>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648		1.37:g.247712382C>T	Exception_encountered					GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_3'UTR	p.P84L							4	409	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.251C>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	C	7.170	0.587542	0.13812	.	.	ENSG00000169224	ENST00000366490	.	.	.	3.23	2.29	0.28610	.	.	.	.	.	T	0.43743	0.1261	.	.	.	0.24752	N	0.992979	.	.	.	.	.	.	T	0.37641	-0.9697	5	0.87932	D	0	.	8.3674	0.32395	0.0:0.7575:0.2425:0.0	.	.	.	.	L	84	.	ENSP00000355446:P84L	P	+	2	0	C1orf150	245779005	0.043000	0.20138	0.350000	0.25708	0.186000	0.23388	0.617000	0.24359	0.902000	0.36520	0.591000	0.81541	CCC		0.547	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		5	10	0	0	0	1	0	5	10				
NFATC2	4773	broad.mit.edu	37	20	50091994	50091994	+	Splice_Site	SNP	C	C	T	rs200028027		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:50091994C>T	ENST00000396009.3	-	4	1755		c.e4+1		NFATC2_ENST00000371564.3_Splice_Site|NFATC2_ENST00000610033.1_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000609507.1_Splice_Site|NFATC2_ENST00000609943.1_Splice_Site	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCCTTACGTTGCCCTCA	0.567																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.e4+1		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							148.0	153.0	151.0					20																	50091994		2203	4300	6503	SO:0001630	splice_region_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50091994C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1535+1G>A	20.37:g.50091994C>T						NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site		NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			4	1755	-	Hepatocellular(150;0.248)							B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Splice_Site	SNP	ENST00000396009.3	37		CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448037	0.84101	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8896	0.92392	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFATC2	49525401	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.711000	0.84669	2.448000	0.82819	0.585000	0.79938	.		0.567	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Intron	28	100	0	0	0	1	0	28	100				
MIR892A	100126342	broad.mit.edu	37	X	145078727	145078727	+	RNA	SNP	C	C	A	rs368507856		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:145078727C>A	ENST00000401124.1	-	0	0				MIR890_ENST00000401256.1_RNA|MIR888_ENST00000401186.1_RNA|MIR892B_ENST00000401279.1_RNA	NR_030584.1				microRNA 892a																		GAGCCTTGCTCTACCCAGAAA	0.498																																						ENST00000401279.1																			0																				38.0	31.0	33.0					X																	145078727		1564	3572	5136			0							g.chrX:145078727C>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145078727C>A								NR_030593.1						0	65	-									RNA	SNP	ENST00000401124.1	37																																																																																						0.498	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		3	6	1	0	0.115264	1	0.116574	3	6				
ADAMTSL3	57188	broad.mit.edu	37	15	84373247	84373247	+	Missense_Mutation	SNP	G	G	T	rs77028575	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:84373247G>T	ENST00000286744.5	+	3	400	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	59						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACTTATCGCTATGATGAC	0.453																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(175-177)cGc>cTc		ADAMTS-like 3							179.0	176.0	177.0					15																	84373247		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84373247G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.176G>T	15.37:g.84373247G>T	ENSP00000286744:p.Arg59Leu					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59L	p.R59L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	400	+			59					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.176G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511576	0.85389	.	.	ENSG00000156218	ENST00000286744	T	0.66099	-0.19	5.45	5.45	0.79879	.	0.784953	0.11105	N	0.599168	T	0.74749	0.3757	L	0.41236	1.265	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.68135	-0.5489	10	0.31617	T	0.26	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	59;59	P82987-2;P82987	.;ATL3_HUMAN	L	59	ENSP00000286744:R59L	ENSP00000286744:R59L	R	+	2	0	ADAMTSL3	82164251	1.000000	0.71417	0.997000	0.53966	0.845000	0.48019	7.483000	0.81158	2.569000	0.86673	0.655000	0.94253	CGC		0.453	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		65	102	1	0	3.94839e-29	1	4.39259e-29	65	102				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	95	0	0	0	1	0	4	95				
CARD11	84433	broad.mit.edu	37	7	2954958	2954958	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:2954958G>A	ENST00000396946.4	-	21	3155	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	918					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCGGACCCGCTCGTTGCTG	0.592			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2752-2754)Cgg>Tgg		caspase recruitment domain family, member 11							89.0	81.0	84.0					7																	2954958		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2954958G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2752C>T	7.37:g.2954958G>A	ENSP00000380150:p.Arg918Trp						p.R918W	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	21	3155	-		Ovarian(82;0.0115)	918					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.2752C>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999505	0.54147	.	.	ENSG00000198286	ENST00000396946	T	0.34667	1.35	4.67	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.38268	0.1034	N	0.08118	0	0.53688	D	0.999976	D	0.89917	1.0	D	0.66979	0.948	T	0.44467	-0.9326	10	0.87932	D	0	-26.6899	14.2337	0.65911	0.0:0.0:0.8488:0.1512	.	918	Q9BXL7	CAR11_HUMAN	W	918	ENSP00000380150:R918W	ENSP00000380150:R918W	R	-	1	2	CARD11	2921484	1.000000	0.71417	0.976000	0.42696	0.678000	0.39670	3.816000	0.55658	0.396000	0.25283	-1.656000	0.00753	CGG		0.592	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		34	80	0	0	0	1	0	34	80				
PPP4C	5531	broad.mit.edu	37	16	30094748	30094748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr16:30094748G>A	ENST00000279387.7	+	6	505	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	PPP4C_ENST00000561610.1_Missense_Mutation_p.G113S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	113					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						ACTGATCCGGGGCAACCATGA	0.602																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(337-339)Ggc>Agc		protein phosphatase 4, catalytic subunit							100.0	94.0	96.0					16																	30094748		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30094748G>A		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.337G>A	16.37:g.30094748G>A	ENSP00000279387:p.Gly113Ser					PPP4C_ENST00000561610.1_Missense_Mutation_p.G113S	p.G113S	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			6	505	+			113					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.337G>A	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365433	0.82463	.	.	ENSG00000149923	ENST00000279387	D	0.85258	-1.96	5.51	4.57	0.56435	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	0.051370	0.85682	D	0.000000	D	0.96886	0.8983	H	0.99996	5.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97442	1.0022	10	0.87932	D	0	0.0825	13.5622	0.61795	0.0758:0.0:0.9242:0.0	.	113	P60510	PP4C_HUMAN	S	113	ENSP00000279387:G113S	ENSP00000279387:G113S	G	+	1	0	PPP4C	30002249	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	9.608000	0.98331	1.344000	0.45657	-0.126000	0.14955	GGC		0.602	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		4	140	0	0	0	1	0	4	140				
FKBP6	8468	broad.mit.edu	37	7	72755293	72755293	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:72755293T>C	ENST00000252037.4	+	7	874	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	RNU6-1080P_ENST00000383982.1_RNA|FKBP6_ENST00000431982.2_Missense_Mutation_p.Y264H|FKBP6_ENST00000413573.2_Missense_Mutation_p.Y239H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	269					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGACTGAGTATCAAAAGGC	0.463																																						ENST00000252037.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(805-807)Tat>Cat		FK506 binding protein 6, 36kDa							127.0	125.0	126.0					7																	72755293		1840	4096	5936	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72755293T>C	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.805T>C	7.37:g.72755293T>C	ENSP00000252037:p.Tyr269His					FKBP6_ENST00000431982.2_Missense_Mutation_p.Y264H|FKBP6_ENST00000413573.2_Missense_Mutation_p.Y239H	p.Y269H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			7	874	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	269					B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.805T>C	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814482	0.70912	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.79	4.79	0.61399	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.196783	0.45606	D	0.000342	D	0.86381	0.5919	M	0.76433	2.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.994	D	0.86775	0.1975	10	0.49607	T	0.09	-15.0041	12.0901	0.53722	0.0:0.0:0.0:1.0	.	264;269;239	O75344-2;O75344;Q7Z4T4	.;FKBP6_HUMAN;.	H	264;224;239;269	ENSP00000416277:Y264H;ENSP00000402360:Y224H;ENSP00000394952:Y239H;ENSP00000252037:Y269H	ENSP00000252037:Y269H	Y	+	1	0	FKBP6	72393229	1.000000	0.71417	0.993000	0.49108	0.889000	0.51656	5.634000	0.67833	1.796000	0.52611	0.460000	0.39030	TAT		0.463	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		24	290	0	0	0	1	0	24	290				
CYP4F3	4051	broad.mit.edu	37	19	15760764	15760764	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:15760764C>G	ENST00000221307.8	+	7	736	c.689C>G	c.(688-690)gCc>gGc	p.A230G	CYP4F3_ENST00000586182.2_Missense_Mutation_p.A230G|CYP4F3_ENST00000591058.1_Missense_Mutation_p.A230G|CYP4F3_ENST00000585846.1_Missense_Mutation_p.A230G	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	230					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCTCAGTGCCCTTGTGACA	0.527																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(688-690)gCc>gGc		cytochrome P450, family 4, subfamily F, polypeptide 3							153.0	143.0	147.0					19																	15760764		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760764C>G	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.689C>G	19.37:g.15760764C>G	ENSP00000221307:p.Ala230Gly					CYP4F3_ENST00000591058.1_Missense_Mutation_p.A230G|CYP4F3_ENST00000585846.1_Missense_Mutation_p.A230G|CYP4F3_ENST00000586182.1_Missense_Mutation_p.A230G	p.A230G	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			7	737	+			230					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.689C>G	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	9.715	1.158165	0.21454	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.69306	-0.39	3.99	0.0296	0.14163	.	0.496424	0.19016	U	0.124953	T	0.55401	0.1918	L	0.49513	1.565	0.28212	N	0.926894	B;B	0.14438	0.01;0.001	B;B	0.23852	0.049;0.049	T	0.47315	-0.9127	10	0.30078	T	0.28	.	8.3292	0.32175	0.1615:0.5242:0.3143:0.0	.	230;230	B7Z8Z3;Q08477	.;CP4F3_HUMAN	G	157;230	ENSP00000221307:A230G	ENSP00000221307:A230G	A	+	2	0	CYP4F3	15621764	0.001000	0.12720	0.410000	0.26471	0.765000	0.43378	1.035000	0.30216	0.137000	0.18759	0.313000	0.20887	GCC		0.527	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		4	242	0	0	0	1	0	4	242				
TXNDC2	84203	broad.mit.edu	37	18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr18:9886961G>A	ENST00000306084.6	+	2	684	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_ENST00000357775.5_Missense_Mutation_p.G95D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(484-486)gGc>gAc		thioredoxin domain containing 2 (spermatozoa)							123.0	131.0	128.0					18																	9886961		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886961G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.485G>A	18.37:g.9886961G>A	ENSP00000304908:p.Gly162Asp					TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D|TXNDC2_ENST00000357775.4_Missense_Mutation_p.G95D	p.G162D	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	684	+			162			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.485G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	8.901	0.956346	0.18507	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.41758	1.94;0.99;0.99	3.16	-6.33	0.01988	.	1.685430	0.03585	N	0.230870	T	0.25082	0.0609	N	0.14661	0.345	0.09310	N	1	B	0.33637	0.42	B	0.37198	0.243	T	0.21655	-1.0239	9	.	.	.	-1.0E-4	7.5046	0.27536	0.3653:0.4185:0.2161:0.0	.	162	Q86VQ3	TXND2_HUMAN	D	95;95;162;162	ENSP00000437393:G95D;ENSP00000350419:G95D;ENSP00000304908:G162D	.	G	+	2	0	TXNDC2	9876961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.096000	0.00606	-2.727000	0.00386	-0.368000	0.07277	GGC		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			86	146	0	0	0	1	0	86	146				
LGI2	55203	broad.mit.edu	37	4	25005398	25005398	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:25005398C>A	ENST00000382114.4	-	8	1498	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	438						extracellular region (GO:0005576)		p.R438H(1)|p.R438L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCGATGAAGCGGGTAAGGGA	0.542																																						ENST00000382114.4																			2	Substitution - Missense(2)	p.R438H(1)|p.R438L(1)	large_intestine(2)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33						c.(1312-1314)cGc>cTc		leucine-rich repeat LGI family, member 2							176.0	188.0	184.0					4																	25005398		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005398C>A	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.1313G>T	4.37:g.25005398C>A	ENSP00000371548:p.Arg438Leu						p.R438L	NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN			8	1498	-		Breast(46;0.173)	438					Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.1313G>T	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898525	0.91962	.	.	ENSG00000153012	ENST00000382114;ENST00000282970	T	0.81163	-1.46	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.89181	0.6642	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.89715	0.3915	10	0.87932	D	0	-24.2404	19.5927	0.95522	0.0:1.0:0.0:0.0	.	438	Q8N0V4	LGI2_HUMAN	L	438;86	ENSP00000371548:R438L	ENSP00000282970:R86L	R	-	2	0	LGI2	24614496	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.618000	0.88619	0.557000	0.71058	CGC		0.542	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			15	375	1	0	1.99824e-07	1	2.11718e-07	15	375				
PHIP	55023	broad.mit.edu	37	6	79688363	79688363	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:79688363C>G	ENST00000275034.4	-	24	3002	c.2835G>C	c.(2833-2835)tgG>tgC	p.W945C	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	945	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TATCTGTAATCCATGTTGATG	0.338																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(2833-2835)tgG>tgC		pleckstrin homology domain interacting protein							105.0	99.0	101.0					6																	79688363		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79688363C>G	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.2835G>C	6.37:g.79688363C>G	ENSP00000275034:p.Trp945Cys					PHIP_ENST00000479165.1_5'UTR	p.W945C	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	24	3002	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	945			Mediates interaction with IRS1 (By similarity).		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.2835G>C	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103002	0.76983	.	.	ENSG00000146247	ENST00000275034	T	0.43294	0.95	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000003	T	0.59972	0.2233	M	0.79614	2.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.61773	-0.6994	9	.	.	.	-5.4953	17.8784	0.88831	0.0:1.0:0.0:0.0	.	945;945	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	945	ENSP00000275034:W945C	.	W	-	3	0	PHIP	79745082	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.442000	0.80503	2.450000	0.82876	0.655000	0.94253	TGG		0.338	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			3	64	0	0	0	1	0	3	64				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	40	0	0	0	1	0	24	40				
ARHGAP30	257106	broad.mit.edu	37	1	161019353	161019353	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:161019353G>A	ENST00000368013.3	-	11	1867	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S516L|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S339L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	516					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.S516L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGAGCTGCTTGAGTCCTCTAG	0.647																																						ENST00000368013.3																			2	Substitution - Missense(2)	p.S516L(2)	endometrium(2)	breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1546-1548)tCa>tTa		Rho GTPase activating protein 30							76.0	78.0	77.0					1																	161019353		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161019353G>A	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1547C>T	1.37:g.161019353G>A	ENSP00000356992:p.Ser516Leu					ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S339L|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S516L	p.S516L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		11	1867	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		516					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1547C>T	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252886	0.22965	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.31247	3.07;3.03;1.5	5.18	3.28	0.37604	.	0.168717	0.28538	N	0.015000	T	0.08268	0.0206	L	0.42245	1.32	0.24767	N	0.992891	B;B	0.12013	0.005;0.002	B;B	0.12156	0.007;0.003	T	0.19289	-1.0310	10	0.29301	T	0.29	.	3.6753	0.08290	0.2045:0.0:0.5982:0.1972	.	516;516	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	L	516;516;368;339	ENSP00000356995:S516L;ENSP00000356992:S516L;ENSP00000356994:S339L	ENSP00000356992:S516L	S	-	2	0	ARHGAP30	159285977	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.362000	0.34148	1.161000	0.42604	0.555000	0.69702	TCA		0.647	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		66	110	0	0	0	1	0	66	110				
BTK	695	broad.mit.edu	37	X	100630146	100630146	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:100630146C>T	ENST00000308731.7	-	2	290	c.127G>A	c.(127-129)Gac>Aac	p.D43N	BTK_ENST00000372880.1_Missense_Mutation_p.D43N|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	43	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTCAAAGTCATACTCATAG	0.408									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	GRCh37	CI015213	BTK	I		c.(127-129)Gac>Aac		Bruton agammaglobulinemia tyrosine kinase							181.0	161.0	168.0					X																	100630146		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia, X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100630146C>T	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.127G>A	X.37:g.100630146C>T	ENSP00000308176:p.Asp43Asn					BTK_ENST00000464567.1_5'UTR|BTK_ENST00000372880.1_Missense_Mutation_p.D43N	p.D43N	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			2	290	-			43			PH.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.127G>A	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672539	0.88348	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.93712	-3.27;-3.27	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	M	0.74258	2.255	0.80722	D	1	D;P;D	0.76494	0.998;0.802;0.999	D;P;D	0.87578	0.997;0.773;0.998	D	0.97027	0.9747	10	0.72032	D	0.01	.	17.811	0.88616	0.0:1.0:0.0:0.0	.	43;43;43	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	N	43	ENSP00000361971:D43N;ENSP00000308176:D43N	ENSP00000308176:D43N	D	-	1	0	BTK	100516802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.382000	0.73167	2.237000	0.73441	0.600000	0.82982	GAC		0.408	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		5	155	0	0	0	1	0	5	155				
OR11H6	122748	broad.mit.edu	37	14	20692295	20692295	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:20692295G>A	ENST00000315519.2	+	1	505	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCGGTACCTGGCCATCTGTCG	0.438																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(427-429)Gcc>Acc		olfactory receptor, family 11, subfamily H, member 6							153.0	151.0	151.0					14																	20692295		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692295G>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.427G>A	14.37:g.20692295G>A	ENSP00000319071:p.Ala143Thr						p.A143T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	505	+	all_cancers(95;0.00108)		143					Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.427G>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987530	0.53934	.	.	ENSG00000176219	ENST00000315519	T	0.00912	5.55	4.97	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.04048	0.0113	H	0.95780	3.72	0.39720	D	0.971452	B	0.26041	0.14	B	0.33392	0.163	T	0.00896	-1.1523	10	0.66056	D	0.02	.	12.3763	0.55281	0.0:0.0:0.8304:0.1696	.	143	Q8NGC7	O11H6_HUMAN	T	143	ENSP00000319071:A143T	ENSP00000319071:A143T	A	+	1	0	OR11H6	19762135	1.000000	0.71417	0.999000	0.59377	0.737000	0.42083	6.506000	0.73712	1.273000	0.44346	0.442000	0.29010	GCC		0.438	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			4	133	0	0	0	1	0	4	133				
JADE1	79960	broad.mit.edu	37	4	129782915	129782915	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:129782915C>T	ENST00000226319.6	+	9	1318	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	PHF17_ENST00000512960.1_Silent_p.G346G|PHF17_ENST00000511647.1_Silent_p.G346G|PHF17_ENST00000413543.2_Silent_p.G346G|PHF17_ENST00000452328.2_Silent_p.G334G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTGACCGGGGCCTGGAGATGA	0.478																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1036-1038)ggC>ggT									98.0	104.0	102.0					4																	129782915		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129782915C>T																												ENST00000226319.6:c.1038C>T	4.37:g.129782915C>T						PHF17_ENST00000512960.1_Silent_p.G346G|PHF17_ENST00000452328.2_Silent_p.G334G|PHF17_ENST00000413543.2_Silent_p.G346G|PHF17_ENST00000511647.1_Silent_p.G346G	p.G346G	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			9	1318	+			346						Silent	SNP	ENST00000226319.6	37	c.1038C>T	CCDS34062.1																																																																																				0.478	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			58	112	0	0	0	1	0	58	112				
MYH2	4620	broad.mit.edu	37	17	10431167	10431167	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:10431167T>C	ENST00000245503.5	-	28	4153	c.3769A>G	c.(3769-3771)Act>Gct	p.T1257A	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1257A|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1257					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCTAGAGTCCGGCACATT	0.448																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3769-3771)Act>Gct		myosin, heavy chain 2, skeletal muscle, adult							81.0	84.0	83.0					17																	10431167		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10431167T>C		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3769A>G	17.37:g.10431167T>C	ENSP00000245503:p.Thr1257Ala					CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1257A	p.T1257A	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			28	4153	-			1257					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3769A>G	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	T	9.820	1.185402	0.21870	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82803	-1.65;-1.65	4.77	4.77	0.60923	Myosin tail (1);	0.180288	0.26435	U	0.024391	T	0.78496	0.4292	L	0.46670	1.46	0.41984	D	0.99081	B	0.02656	0.0	B	0.16289	0.015	T	0.74751	-0.3559	10	0.37606	T	0.19	.	14.7533	0.69543	0.0:0.0:0.0:1.0	.	1257	Q9UKX2	MYH2_HUMAN	A	1257	ENSP00000245503:T1257A;ENSP00000380367:T1257A	ENSP00000245503:T1257A	T	-	1	0	MYH2	10371892	1.000000	0.71417	0.363000	0.25875	0.031000	0.12232	3.853000	0.55941	2.132000	0.65825	0.374000	0.22700	ACT		0.448	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		6	85	0	0	0	1	0	6	85				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	33	0	0	0	1	0	3	33				
KRT31	3881	broad.mit.edu	37	17	39552727	39552727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:39552727G>A	ENST00000251645.2	-	3	585	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	178	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCACCTGGGCCTCCAGGTC	0.587																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(532-534)gCc>gTc		keratin 31							86.0	74.0	78.0					17																	39552727		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39552727G>A	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.533C>T	17.37:g.39552727G>A	ENSP00000251645:p.Ala178Val						p.A178V	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			3	585	-		Breast(137;0.000496)	178			Coil 1B.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.533C>T	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	20.7	4.040891	0.75732	.	.	ENSG00000094796	ENST00000251645	T	0.78003	-1.14	5.11	4.13	0.48395	Filament (1);	0.000000	0.64402	D	0.000004	T	0.81809	0.4901	M	0.86343	2.81	0.29754	N	0.836103	B	0.29341	0.242	B	0.39935	0.314	T	0.77096	-0.2714	10	0.33940	T	0.23	.	9.8878	0.41272	0.1763:0.0:0.8237:0.0	.	178	Q15323	K1H1_HUMAN	V	178	ENSP00000251645:A178V	ENSP00000251645:A178V	A	-	2	0	KRT31	36806253	0.002000	0.14202	0.994000	0.49952	0.998000	0.95712	0.626000	0.24492	1.263000	0.44181	0.655000	0.94253	GCC		0.587	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		27	57	0	0	0	1	0	27	57				
DCAF12L2	340578	broad.mit.edu	37	X	125298904	125298904	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:125298904C>G	ENST00000360028.2	-	1	1030	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R335P			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGCGCTGGCGCGGATCCAG	0.627																																						ENST00000538699.1																			1	Substitution - Missense(1)	p.R335H(1)	upper_aerodigestive_tract(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1003-1005)cGc>cCc		DDB1 and CUL4 associated factor 12-like 2							58.0	62.0	61.0					X																	125298904		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298904C>G	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1004G>C	X.37:g.125298904C>G	ENSP00000353128:p.Arg335Pro					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335P	p.R335P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1084	-			335					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1004G>C	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568803	0.65765	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.66995	-0.24;-0.24	4.05	4.05	0.47172	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.33057	N	0.005338	T	0.81654	0.4868	M	0.82323	2.585	0.46849	D	0.999223	D	0.89917	1.0	D	0.87578	0.998	D	0.84317	0.0514	10	0.66056	D	0.02	.	13.1427	0.59444	0.0:1.0:0.0:0.0	.	335	Q5VW00	DC122_HUMAN	P	335	ENSP00000441489:R335P;ENSP00000353128:R335P	ENSP00000353128:R335P	R	-	2	0	DCAF12L2	125126585	1.000000	0.71417	0.048000	0.18961	0.813000	0.45954	6.536000	0.73842	2.263000	0.75096	0.544000	0.68410	CGC		0.627	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		11	158	0	0	0	1	0	11	158				
CD1B	910	broad.mit.edu	37	1	158298792	158298792	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:158298792G>A	ENST00000368168.3	-	5	1006	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	300					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGAGCCAATGGAGGTGGGGTT	0.463																																						ENST00000368168.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(898-900)tCc>tTc		CD1b molecule							98.0	88.0	92.0					1																	158298792		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158298792G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.899C>T	1.37:g.158298792G>A	ENSP00000357150:p.Ser300Phe						p.S300F	NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN			5	1006	-	all_hematologic(112;0.0378)		300					Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.899C>T	CCDS1176.1	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112149	0.20795	.	.	ENSG00000158485	ENST00000368168	T	0.01613	4.73	4.26	0.948	0.19561	MHC class I-like antigen recognition (1);	0.500668	0.17058	N	0.188670	T	0.01800	0.0057	M	0.74258	2.255	0.09310	N	1	P;P	0.48998	0.918;0.917	P;P	0.49999	0.529;0.628	T	0.42224	-0.9464	10	0.48119	T	0.1	-13.7607	9.4644	0.38804	0.0:0.0:0.4354:0.5646	.	300;245	P29016;P29016-2	CD1B_HUMAN;.	F	300	ENSP00000357150:S300F	ENSP00000357150:S300F	S	-	2	0	CD1B	156565416	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.434000	0.21494	0.501000	0.28013	0.655000	0.94253	TCC		0.463	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764		17	38	0	0	0	1	0	17	38				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																0							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		5	101	0	0	0	1	0	5	101				
NCOR1	9611	broad.mit.edu	37	17	15967388	15967388	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:15967388G>A	ENST00000268712.3	-	35	5472	c.5215C>T	c.(5215-5217)Cgg>Tgg	p.R1739W	NCOR1_ENST00000395851.1_Missense_Mutation_p.R1755W|NCOR1_ENST00000395857.3_Missense_Mutation_p.R323W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1739	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACCTGGCCGCAGGTAGAGG	0.542																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5215-5217)Cgg>Tgg		nuclear receptor corepressor 1							125.0	113.0	117.0					17																	15967388		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15967388G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5215C>T	17.37:g.15967388G>A	ENSP00000268712:p.Arg1739Trp					NCOR1_ENST00000395857.3_Missense_Mutation_p.R323W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R1755W	p.R1739W	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	35	5472	-			1739			Interaction with C1D (By similarity).|Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5215C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837462	0.91117	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.55588	0.51;0.51;0.51	5.7	5.7	0.88788	.	0.115041	0.64402	D	0.000008	T	0.68842	0.3045	L	0.56199	1.76	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.996;0.996;1.0;1.0;0.997	P;P;D;D;P	0.79108	0.782;0.842;0.982;0.992;0.785	T	0.70332	-0.4901	10	0.87932	D	0	-10.356	16.5544	0.84482	0.0:0.0:1.0:0.0	.	549;1643;1739;1755;259	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	W	1739;1755;1643;323	ENSP00000268712:R1739W;ENSP00000379192:R1755W;ENSP00000379198:R323W	ENSP00000268712:R1739W	R	-	1	2	NCOR1	15908113	1.000000	0.71417	0.996000	0.52242	0.833000	0.47200	5.841000	0.69409	2.687000	0.91594	0.655000	0.94253	CGG		0.542	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		4	116	0	0	0	1	0	4	116				
C8orf33	65265	broad.mit.edu	37	8	146278473	146278473	+	Missense_Mutation	SNP	C	C	T	rs200070447	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:146278473C>T	ENST00000331434.6	+	3	458	c.344C>T	c.(343-345)gCt>gTt	p.A115V		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	115										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CAGGAATTGGCTTGGTGTGTG	0.587													C|||	8	0.00159744	0.0	0.0	5008	,	,		17040	0.0079		0.0	False		,,,				2504	0.0					ENST00000331434.6																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(343-345)gCt>gTt		chromosome 8 open reading frame 33							75.0	77.0	76.0					8																	146278473		2203	4300	6503	SO:0001583	missense	65265							g.chr8:146278473C>T		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.344C>T	8.37:g.146278473C>T	ENSP00000330361:p.Ala115Val						p.A115V	NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)	3	458	+	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		115					A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	37	c.344C>T	CCDS34974.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	.	6.634	0.485415	0.12641	.	.	ENSG00000182307	ENST00000331434	.	.	.	4.03	2.97	0.34412	.	0.239030	0.39475	N	0.001350	T	0.20820	0.0501	L	0.35854	1.095	0.26943	N	0.966209	B	0.23891	0.093	B	0.21151	0.033	T	0.06481	-1.0824	8	.	.	.	-8.059	7.7496	0.28890	0.3191:0.6809:0.0:0.0	.	115	Q9H7E9	CH033_HUMAN	V	115	.	.	A	+	2	0	C8orf33	146249277	0.998000	0.40836	0.999000	0.59377	0.105000	0.19272	0.417000	0.21214	1.975000	0.57531	0.655000	0.94253	GCT		0.587	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080		6	86	0	0	0	1	0	6	86				
KIAA1109	84162	broad.mit.edu	37	4	123140536	123140536	+	Silent	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:123140536A>G	ENST00000264501.4	+	21	2662	c.2289A>G	c.(2287-2289)gaA>gaG	p.E763E	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.E763E|KIAA1109_ENST00000388738.3_Silent_p.E763E			Q2LD37	K1109_HUMAN	KIAA1109	763					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGATTTTGAAGAGGTTATCT	0.353																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(2287-2289)gaA>gaG		KIAA1109							180.0	167.0	171.0					4																	123140536		1842	4087	5929	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140536A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2289A>G	4.37:g.123140536A>G						KIAA1109_ENST00000388738.3_Silent_p.E763E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.E763E	p.E763E			Q2LD37	K1109_HUMAN			21	2662	+			763					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.2289A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	8.399	0.841469	0.16963	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.83	4.65	0.58169	.	.	.	.	.	T	0.59985	0.2234	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56709	-0.7934	4	.	.	.	.	9.43	0.38604	0.8079:0.0:0.1921:0.0	.	.	.	.	G	596	.	.	R	+	1	2	KIAA1109	123359986	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.148000	0.50647	1.038000	0.40049	0.533000	0.62120	AGA		0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		59	97	0	0	0	1	0	59	97				
WARS2	10352	broad.mit.edu	37	1	119576827	119576827	+	Silent	SNP	G	G	A	rs199831668		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:119576827G>A	ENST00000235521.4	-	5	551	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000369426.5_Silent_p.H175H|WARS2_ENST00000537870.1_Silent_p.H81H	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		18960	0.0		0.001	False		,,,				2504	0.0					ENST00000369426.5																			2	Substitution - coding silent(2)	p.H175H(2)	prostate(2)	breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(523-525)caC>caT		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)	G	,	0,4406		0,0,2203	116.0	108.0	111.0		525,525	4.8	1.0	1		111	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	WARS2	NM_015836.3,NM_201263.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	175/361,175/221	119576827	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119576827G>A	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.525C>T	1.37:g.119576827G>A						WARS2_ENST00000235521.4_Silent_p.H175H|WARS2_ENST00000537870.1_Silent_p.H81H	p.H175H			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	5	528	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	175					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Silent	SNP	ENST00000235521.4	37	c.525C>T	CCDS900.1																																																																																				0.433	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		27	53	0	0	0	1	0	27	53				
PAK2	5062	broad.mit.edu	37	3	196533532	196533532	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:196533532C>T	ENST00000327134.3	+	6	873	c.551C>T	c.(550-552)gCc>gTc	p.A184V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	184					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCCGTTATTGCCCCGCGACCG	0.483																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(550-552)gCc>gTc		p21 protein (Cdc42/Rac)-activated kinase 2							141.0	113.0	123.0					3																	196533532		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196533532C>T	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.551C>T	3.37:g.196533532C>T	ENSP00000314067:p.Ala184Val						p.A184V	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	6	873	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		184					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.551C>T	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753471	0.89753	.	.	ENSG00000180370	ENST00000327134	T	0.69806	-0.43	5.84	5.84	0.93424	.	0.145125	0.64402	D	0.000008	T	0.68550	0.3013	M	0.63843	1.955	0.80722	D	1	B	0.16802	0.019	B	0.25291	0.059	T	0.62358	-0.6871	10	0.37606	T	0.19	.	20.13	0.97997	0.0:1.0:0.0:0.0	.	184	Q13177	PAK2_HUMAN	V	184	ENSP00000314067:A184V	ENSP00000314067:A184V	A	+	2	0	PAK2	198017929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.463000	0.80869	2.765000	0.95021	0.655000	0.94253	GCC		0.483	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		4	59	0	0	0	1	0	4	59				
ADSS	159	broad.mit.edu	37	1	244581040	244581040	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:244581040T>C	ENST00000366535.3	-	10	1276	c.960A>G	c.(958-960)ttA>ttG	p.L320L	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTGTTTGTAATAATTCTCCAA	0.363																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(958-960)ttA>ttG		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						85.0	82.0	83.0					1																	244581040		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244581040T>C	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.960A>G	1.37:g.244581040T>C							p.L320L	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		10	1276	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	320						Silent	SNP	ENST00000366535.3	37	c.960A>G	CCDS1624.1																																																																																				0.363	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		20	25	0	0	0	1	0	20	25				
MAP3K1	4214	broad.mit.edu	37	5	56178277	56178277	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:56178277G>A	ENST00000399503.3	+	14	3250	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1084					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATGACACTTGATCTGAACAG	0.453																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3250-3252)Gat>Aat		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							103.0	94.0	97.0					5																	56178277		1930	4132	6062	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56178277G>A	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3250G>A	5.37:g.56178277G>A	ENSP00000382423:p.Asp1084Asn						p.D1084N	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	14	3250	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1084						Missense_Mutation	SNP	ENST00000399503.3	37	c.3250G>A	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751049	0.49257	.	.	ENSG00000095015	ENST00000399503	T	0.70399	-0.48	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	L	0.56769	1.78	0.58432	D	0.999995	B	0.21606	0.058	B	0.14578	0.011	T	0.60885	-0.7174	10	0.32370	T	0.25	.	14.344	0.66646	0.0704:0.0:0.9295:0.0	.	1084	Q13233	M3K1_HUMAN	N	1084	ENSP00000382423:D1084N	ENSP00000382423:D1084N	D	+	1	0	MAP3K1	56214034	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	6.402000	0.73260	2.778000	0.95560	0.655000	0.94253	GAT		0.453	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		6	72	0	0	0	1	0	6	72				
IL17A	3605	broad.mit.edu	37	6	52052501	52052501	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:52052501G>A	ENST00000340057.1	+	2	173	c.128G>A	c.(127-129)cGg>cAg	p.R43Q		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	43					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					AACTTCCCCCGGACTGTGATG	0.498																																						ENST00000340057.1																			0				endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17						c.(127-129)cGg>cAg		interleukin 17A							189.0	174.0	179.0					6																	52052501		2203	4300	6503	SO:0001583	missense	3605				apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	g.chr6:52052501G>A	U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.128G>A	6.37:g.52052501G>A	ENSP00000344192:p.Arg43Gln						p.R43Q	NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN			2	173	+	Lung NSC(77;0.116)		43					Q5T2P0	Missense_Mutation	SNP	ENST00000340057.1	37	c.128G>A	CCDS4937.1	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025318	0.07589	.	.	ENSG00000112115	ENST00000340057	T	0.54279	0.58	5.71	1.87	0.25490	.	0.679319	0.14575	N	0.311260	T	0.04452	0.0122	N	0.01109	-1.01	0.09310	N	0.999999	B	0.10296	0.003	B	0.01281	0.0	T	0.44452	-0.9327	10	0.02654	T	1	-12.6307	5.4773	0.16702	0.714:0.1447:0.1413:0.0	.	43	Q16552	IL17_HUMAN	Q	43	ENSP00000344192:R43Q	ENSP00000344192:R43Q	R	+	2	0	IL17A	52160460	0.055000	0.20627	0.278000	0.24718	0.151000	0.21798	1.148000	0.31614	0.077000	0.16863	-0.768000	0.03414	CGG		0.498	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1	NM_002190		4	228	0	0	0	1	0	4	228				
IHH	3549	broad.mit.edu	37	2	219920497	219920497	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:219920497A>G	ENST00000295731.6	-	3	667	c.668T>C	c.(667-669)gTg>gCg	p.V223A	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	223					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCGGCCTCACGGCTGACAA	0.682																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(667-669)gTg>gCg		indian hedgehog							37.0	40.0	39.0					2																	219920497		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920497A>G	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.668T>C	2.37:g.219920497A>G	ENSP00000295731:p.Val223Ala						p.V223A	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	667	-		Renal(207;0.0915)	223					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.668T>C	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.190016	0.38707	.	.	ENSG00000163501	ENST00000295731	D	0.98987	-5.3	5.18	4.01	0.46588	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.142777	0.46758	D	0.000270	D	0.96892	0.8985	L	0.39245	1.2	0.32985	D	0.52418	B	0.06786	0.001	B	0.06405	0.002	D	0.96843	0.9619	10	0.87932	D	0	-7.6974	10.4678	0.44618	0.9224:0.0:0.0776:0.0	.	223	Q14623	IHH_HUMAN	A	223	ENSP00000295731:V223A	ENSP00000295731:V223A	V	-	2	0	IHH	219628741	0.998000	0.40836	0.081000	0.20488	0.482000	0.33219	7.406000	0.80017	0.810000	0.34279	0.459000	0.35465	GTG		0.682	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		4	86	0	0	0	1	0	4	86				
VSIG4	11326	broad.mit.edu	37	X	65238789	65238789	+	IGR	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238789T>C	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTCAGTTTGTCAAATACCCC	0.542																																						ENST00000385204.1																			0																				50.0	39.0	42.0					X																	65238789		1567	3582	5149	SO:0001628	intergenic_variant	0							g.chrX:65238789T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238789T>C								NR_029637.1						0	78	+								Q6UXI4	RNA	SNP	ENST00000374737.4	37		CCDS14383.1																																																																																				0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		7	8	0	0	0	1	0	7	8				
IRS4	8471	broad.mit.edu	37	X	107976811	107976811	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:107976811C>T	ENST00000372129.2	-	1	2840	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	922					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCCATGTTGACGTAGTCACTA	0.443																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2764-2766)Gtc>Atc		insulin receptor substrate 4							263.0	238.0	246.0					X																	107976811		2203	4300	6503	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976811C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2764G>A	X.37:g.107976811C>T	ENSP00000361202:p.Val922Ile						p.V922I	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2840	-			922						Missense_Mutation	SNP	ENST00000372129.2	37	c.2764G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	2.319	-0.356087	0.05138	.	.	ENSG00000133124	ENST00000372129	T	0.31247	1.5	5.33	0.304	0.15796	.	0.308394	0.29684	N	0.011466	T	0.10337	0.0253	N	0.08118	0	0.25277	N	0.989464	B	0.12013	0.005	B	0.06405	0.002	T	0.32428	-0.9907	10	0.06625	T	0.88	-8.903	5.1238	0.14875	0.1506:0.293:0.0:0.5564	.	922	O14654	IRS4_HUMAN	I	922	ENSP00000361202:V922I	ENSP00000361202:V922I	V	-	1	0	IRS4	107863467	1.000000	0.71417	0.083000	0.20561	0.024000	0.10985	0.830000	0.27462	-0.031000	0.13781	0.600000	0.82982	GTC		0.443	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		6	340	0	0	0	1	0	6	340				
ZNF473	25888	broad.mit.edu	37	19	50548908	50548908	+	Missense_Mutation	SNP	A	A	G	rs374171353	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:50548908A>G	ENST00000595661.1	+	6	1703	c.1208A>G	c.(1207-1209)tAt>tGt	p.Y403C	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.Y403C|ZNF473_ENST00000270617.3_Missense_Mutation_p.Y403C|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.Y391C|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	403	Interaction with SLBP/pre-mRNA complex.				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)		GAGGAGCCTTATAAGTGTAAC	0.473													A|||	4	0.000798722	0.0	0.0	5008	,	,		20856	0.0		0.0	False		,,,				2504	0.0041					ENST00000595661.1																			0				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						c.(1207-1209)tAt>tGt		zinc finger protein 473		A	CYS/TYR,CYS/TYR	0,4406		0,0,2203	98.0	100.0	99.0		1208,1208	-2.3	0.0	19		99	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF473	NM_001006656.1,NM_015428.1	194,194	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	403/872,403/872	50548908	1,13005	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.chr19:50548908A>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.1208A>G	19.37:g.50548908A>G	ENSP00000472808:p.Tyr403Cys					CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.Y403C|ZNF473_ENST00000270617.3_Missense_Mutation_p.Y403C|ZNF473_ENST00000445728.3_Missense_Mutation_p.Y391C	p.Y403C			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1703	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	403			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1208A>G	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	A	12.77	2.037565	0.35989	0.0	1.16E-4	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.20463	2.07;2.07;2.07	4.24	-2.33	0.06724	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.840732	0.09979	N	0.731269	T	0.37625	0.1010	L	0.60845	1.875	0.09310	N	1	D	0.89917	1.0	D	0.66602	0.945	T	0.39272	-0.9622	10	0.72032	D	0.01	-13.7982	12.201	0.54326	0.2273:0.0:0.0:0.7726	.	403	Q8WTR7	ZN473_HUMAN	C	403;403;391	ENSP00000270617:Y403C;ENSP00000375697:Y403C;ENSP00000388961:Y391C	ENSP00000270617:Y403C	Y	+	2	0	ZNF473	55240720	0.000000	0.05858	0.004000	0.12327	0.757000	0.42996	0.289000	0.18957	-0.592000	0.05851	-0.490000	0.04691	TAT		0.473	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		4	103	0	0	0	1	0	4	103				
VSIG4	11326	broad.mit.edu	37	X	65238776	65238776	+	IGR	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238776G>C	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCATGTGGTAGAGTGTCAGTT	0.542																																						ENST00000385204.1																			0																				54.0	42.0	46.0					X																	65238776		1568	3581	5149	SO:0001628	intergenic_variant	0							g.chrX:65238776G>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238776G>C								NR_029637.1						0	65	+								Q6UXI4	RNA	SNP	ENST00000374737.4	37		CCDS14383.1																																																																																				0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		6	7	0	0	0	1	0	6	7				
ZNF711	7552	broad.mit.edu	37	X	84525047	84525047	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:84525047A>G	ENST00000373165.3	+	8	1309	c.1003A>G	c.(1003-1005)Aca>Gca	p.T335A	ZNF711_ENST00000542798.1_Missense_Mutation_p.T177A|ZNF711_ENST00000395402.1_Missense_Mutation_p.T343A|ZNF711_ENST00000360700.4_Missense_Mutation_p.T381A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T335A	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	335					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGAAGTAGTACAGCAGCACA	0.348																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1141-1143)Aca>Gca		zinc finger protein 711							96.0	91.0	93.0					X																	84525047		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84525047A>G	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1003A>G	X.37:g.84525047A>G	ENSP00000362260:p.Thr335Ala					ZNF711_ENST00000373165.3_Missense_Mutation_p.T335A|ZNF711_ENST00000542798.1_Missense_Mutation_p.T177A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T335A|ZNF711_ENST00000395402.1_Missense_Mutation_p.T343A	p.T381A			Q9Y462	ZN711_HUMAN			9	2027	+			335					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1141A>G	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.684776	0.29872	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.73	4.73	0.59995	Transcriptional activator, Zfx / Zfy domain (1);	0.169262	0.27531	U	0.018944	T	0.32496	0.0831	N	0.26042	0.785	0.30675	N	0.752948	B;B	0.15930	0.015;0.0	B;B	0.18561	0.022;0.001	T	0.25187	-1.0139	10	0.27785	T	0.31	-9.1924	8.9943	0.36043	0.8327:0.0:0.0:0.1673	.	381;335	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	A	343;335;335;381;177	ENSP00000378798:T343A;ENSP00000362260:T335A;ENSP00000276123:T335A;ENSP00000353922:T381A;ENSP00000442071:T177A	ENSP00000276123:T335A	T	+	1	0	ZNF711	84411703	1.000000	0.71417	0.983000	0.44433	0.975000	0.68041	4.746000	0.62133	1.547000	0.49401	0.451000	0.29950	ACA		0.348	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		19	53	0	0	0	1	0	19	53				
SLC7A7	9056	broad.mit.edu	37	14	23282566	23282566	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:23282566C>T	ENST00000397532.3	-	2	567	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SLC7A7_ENST00000285850.7_Silent_p.E14E|SLC7A7_ENST00000397529.2_Silent_p.E14E|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000555702.1_Silent_p.E14E|SLC7A7_ENST00000397528.4_Silent_p.E14E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	14					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGTTTCCACCTCAGGCTGGG	0.562																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(40-42)gaG>gaA		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							56.0	51.0	53.0					14																	23282566		2202	4295	6497	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23282566C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.42G>A	14.37:g.23282566C>T						SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000397528.4_Silent_p.E14E|SLC7A7_ENST00000397529.2_Silent_p.E14E|SLC7A7_ENST00000555702.1_Silent_p.E14E|SLC7A7_ENST00000285850.7_Silent_p.E14E	p.E14E			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	2	567	-	all_cancers(95;8.44e-05)		14					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.42G>A	CCDS9574.1																																																																																				0.562	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			38	77	0	0	0	1	0	38	77				
HSD3B1	3283	broad.mit.edu	37	1	120057162	120057162	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:120057162C>T	ENST00000369413.3	+	4	1161	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A339V|HSD3B1_ENST00000235547.6_Missense_Mutation_p.A341V			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	339					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.A339V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CGAGATCTGGCGTATAAGCCA	0.512																																						ENST00000235547.6																			1	Substitution - Missense(1)	p.A339V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(1021-1023)gCg>gTg		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)						84.0	74.0	77.0					1																	120057162		2203	4300	6503	SO:0001583	missense	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057162C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1016C>T	1.37:g.120057162C>T	ENSP00000358421:p.Ala339Val					HSD3B1_ENST00000369413.3_Missense_Mutation_p.A339V|HSD3B1_ENST00000528909.1_Missense_Mutation_p.A339V	p.A341V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1161	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	339					A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	ENST00000369413.3	37	c.1022C>T	CCDS903.1	.	.	.	.	.	.	.	.	.	.	C	9.829	1.187937	0.21954	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.88201	-2.35;-2.35;-2.35	3.26	2.32	0.28847	.	0.049786	0.85682	D	0.000000	T	0.80391	0.4614	L	0.50333	1.59	0.28587	N	0.909855	B;D	0.56287	0.135;0.975	B;P	0.46825	0.019;0.528	T	0.74247	-0.3727	10	0.66056	D	0.02	-8.2779	10.0193	0.42033	0.0:0.2225:0.7774:0.0	.	341;339	Q5TDG2;P14060	.;3BHS1_HUMAN	V	339;341;339	ENSP00000358421:A339V;ENSP00000235547:A341V;ENSP00000432268:A339V	ENSP00000235547:A341V	A	+	2	0	HSD3B1	119858685	1.000000	0.71417	0.548000	0.28192	0.070000	0.16714	7.202000	0.77856	0.673000	0.31224	0.313000	0.20887	GCG		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		6	98	0	0	0	1	0	6	98				
RGS6	9628	broad.mit.edu	37	14	72976874	72976874	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:72976874C>T	ENST00000553530.1	+	14	1185	c.978C>T	c.(976-978)agC>agT	p.S326S	RGS6_ENST00000554782.1_Silent_p.S187S|RGS6_ENST00000404301.2_Silent_p.S326S|RGS6_ENST00000556437.1_Silent_p.S326S|RGS6_ENST00000406236.4_Silent_p.S326S|RGS6_ENST00000343854.6_Silent_p.S289S|RGS6_ENST00000553525.1_Silent_p.S326S|RGS6_ENST00000407322.4_Silent_p.S326S|RGS6_ENST00000355512.6_Silent_p.S326S|RGS6_ENST00000555571.1_Silent_p.S326S|RGS6_ENST00000434263.2_Silent_p.S257S|RGS6_ENST00000402788.2_Silent_p.S326S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	326	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neuron differentiation (GO:0045666)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAGCCCAGCCAACAGCGAG	0.458																																					Ovarian(143;1926 2468 21071 48641)	ENST00000553530.1																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(976-978)agC>agT		regulator of G-protein signaling 6							111.0	126.0	121.0					14																	72976874		2203	4300	6503	SO:0001819	synonymous_variant	9628				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr14:72976874C>T	AF073920	CCDS9808.1, CCDS55924.1, CCDS73655.1	14q24.3	2008-07-28	2007-08-14			ENSG00000182732		"""Regulators of G-protein signaling"""	10002	protein-coding gene	gene with protein product		603894	"""regulator of G-protein signalling 6"""			10083744, 14734556	Standard	NM_004296		Approved		uc010ttn.2	P49758		ENST00000553530.1:c.978C>T	14.37:g.72976874C>T						RGS6_ENST00000406236.4_Silent_p.S326S|RGS6_ENST00000402788.2_Silent_p.S326S|RGS6_ENST00000554782.1_Silent_p.S187S|RGS6_ENST00000407322.4_Silent_p.S326S|RGS6_ENST00000556437.1_Silent_p.S326S|RGS6_ENST00000555571.1_Silent_p.S326S|RGS6_ENST00000404301.2_Silent_p.S326S|RGS6_ENST00000553525.1_Silent_p.S326S|RGS6_ENST00000434263.2_Silent_p.S257S|RGS6_ENST00000355512.6_Silent_p.S326S|RGS6_ENST00000343854.6_Silent_p.S289S	p.S326S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN		all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)	14	1185	+			326			G protein gamma.		C9JE95|F8W7W5|O75576|O75577|Q7Z4K3|Q7Z4K4|Q7Z4K5|Q7Z4K6|Q8TE13|Q8TE14|Q8TE15|Q8TE16|Q8TE17|Q8TE18|Q8TE19|Q8TE20|Q8TE21|Q8TE22|Q9UDS8|Q9UDT0|Q9Y245|Q9Y647	Silent	SNP	ENST00000553530.1	37	c.978C>T	CCDS9808.1																																																																																				0.458	RGS6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413033.2			11	215	0	0	0	1	0	11	215				
PLCE1	51196	broad.mit.edu	37	10	96005955	96005955	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:96005955G>T	ENST00000371380.3	+	7	2908	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLCE1_ENST00000371375.1_Missense_Mutation_p.L583F|PLCE1_ENST00000260766.3_Missense_Mutation_p.L891F|PLCE1_ENST00000371385.3_Missense_Mutation_p.L583F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	891					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAGCACCTTGACCTGGGTAA	0.552																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(2671-2673)ttG>ttT		phospholipase C, epsilon 1							47.0	53.0	51.0					10																	96005955		2109	4237	6346	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96005955G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2673G>T	10.37:g.96005955G>T	ENSP00000360431:p.Leu891Phe					PLCE1_ENST00000371385.3_Missense_Mutation_p.L583F|PLCE1_ENST00000371375.1_Missense_Mutation_p.L583F|PLCE1_ENST00000371380.2_Missense_Mutation_p.L891F	p.L891F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			8	3307	+		Colorectal(252;0.0458)	891					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.2673G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.330061	0.60743	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	6.04	4.18	0.49190	.	0.366044	0.24925	N	0.034516	T	0.67534	0.2903	L	0.53249	1.67	0.33121	D	0.541831	D;D;D	0.71674	0.998;0.991;0.991	D;D;P	0.64321	0.924;0.92;0.804	T	0.74760	-0.3556	10	0.38643	T	0.18	.	12.952	0.58407	0.1319:0.0:0.8681:0.0	.	891;583;891	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	F	891;891;583;583	ENSP00000260766:L891F;ENSP00000360431:L891F;ENSP00000360438:L583F;ENSP00000360426:L583F	ENSP00000260766:L891F	L	+	3	2	PLCE1	95995945	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	1.856000	0.39389	1.575000	0.49775	0.585000	0.79938	TTG		0.552	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		28	29	1	0	1.77063e-15	1	1.92178e-15	28	29				
AHNAK2	113146	broad.mit.edu	37	14	105414216	105414216	+	Silent	SNP	C	C	T	rs575554034		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:105414216C>T	ENST00000333244.5	-	7	7691	c.7572G>A	c.(7570-7572)ggG>ggA	p.G2524G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2524						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGAGGTCCCCCTGCATGG	0.662																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7570-7572)ggG>ggA		AHNAK nucleoprotein 2							118.0	134.0	129.0					14																	105414216		1906	4109	6015	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414216C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7572G>A	14.37:g.105414216C>T						AHNAK2_ENST00000557457.1_Intron	p.G2524G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7691	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2524					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7572G>A	CCDS45177.1																																																																																				0.662	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	293	0	0	0	1	0	7	293				
DNAH3	55567	broad.mit.edu	37	16	20975482	20975482	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr16:20975482T>C	ENST00000261383.3	-	53	9723	c.9724A>G	c.(9724-9726)Atc>Gtc	p.I3242V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3242	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCAAGATCTTATCTTCA	0.463																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9724-9726)Atc>Gtc		dynein, axonemal, heavy chain 3							152.0	137.0	142.0					16																	20975482		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975482T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9724A>G	16.37:g.20975482T>C	ENSP00000261383:p.Ile3242Val					DNAH3_ENST00000415178.1_3'UTR	p.I3242V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9723	-			3242			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9724A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.588610	0.66105	.	.	ENSG00000158486	ENST00000261383	T	0.54479	0.57	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.79458	0.4449	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84763	0.0763	10	0.87932	D	0	.	16.1742	0.81840	0.0:0.0:0.0:1.0	.	3242	Q8TD57	DYH3_HUMAN	V	3242	ENSP00000261383:I3242V	ENSP00000261383:I3242V	I	-	1	0	DNAH3	20882983	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	8.040000	0.89188	2.223000	0.72356	0.482000	0.46254	ATC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	110	0	0	0	1	0	7	110				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		4	184	0	0	0	1	0	4	184				
ETS1	2113	broad.mit.edu	37	11	128360469	128360469	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:128360469T>C	ENST00000319397.6	-	2	394	c.85A>G	c.(85-87)Atg>Gtg	p.M29V	ETS1_ENST00000526145.2_Missense_Mutation_p.M29V|ETS1_ENST00000531611.1_Missense_Mutation_p.M29V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.M73V|ETS1_ENST00000345075.4_Missense_Mutation_p.M29V	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	29					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACATTCCATATCTGCATGA	0.353																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(217-219)Atg>Gtg		v-ets avian erythroblastosis virus E26 oncogene homolog 1							100.0	95.0	97.0					11																	128360469		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360469T>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.85A>G	11.37:g.128360469T>C	ENSP00000324578:p.Met29Val					ETS1_ENST00000531611.1_Missense_Mutation_p.M29V|ETS1_ENST00000526145.1_Missense_Mutation_p.M29V|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Missense_Mutation_p.M29V|ETS1_ENST00000345075.4_Missense_Mutation_p.M29V	p.M73V	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	285	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	29			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.217A>G	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	T	11.34	1.609033	0.28623	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.41758	3.19;2.81;0.99;2.84;3.19	5.74	5.74	0.90152	Sterile alpha motif/pointed domain (1);	.	.	.	.	T	0.36826	0.0981	L	0.39898	1.24	0.80722	D	1	B;B;B	0.22003	0.003;0.028;0.063	B;B;B	0.16722	0.003;0.016;0.01	T	0.09314	-1.0680	9	0.33141	T	0.24	.	16.0469	0.80725	0.0:0.0:0.0:1.0	.	29;29;73	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	V	29;73;29;29;29	ENSP00000340485:M29V;ENSP00000376436:M73V;ENSP00000435666:M29V;ENSP00000324578:M29V;ENSP00000433500:M29V	ENSP00000324578:M29V	M	-	1	0	ETS1	127865679	1.000000	0.71417	0.953000	0.39169	0.848000	0.48234	4.878000	0.63093	2.194000	0.70268	0.460000	0.39030	ATG		0.353	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		3	43	0	0	0	1	0	3	43				
CRYBB2	1415	broad.mit.edu	37	22	25623853	25623853	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:25623853C>T	ENST00000398215.2	+	4	378	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	69	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		identical protein binding (GO:0042802)|structural constituent of eye lens (GO:0005212)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACTGCAAGGGCGAGCAGTTTG	0.587																																						ENST00000398215.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						c.(205-207)ggC>ggT		crystallin, beta B2							85.0	83.0	83.0					22																	25623853		2203	4300	6503	SO:0001819	synonymous_variant	1415				response to stimulus|visual perception		structural constituent of eye lens	g.chr22:25623853C>T		CCDS13831.1	22q11.23	2008-06-10			ENSG00000244752	ENSG00000244752			2398	protein-coding gene	gene with protein product		123620		CCA2, CRYB2A, CRYB2		9158139, 8224918	Standard	XM_006724141		Approved		uc003abp.1	P43320	OTTHUMG00000150905	ENST00000398215.2:c.207C>T	22.37:g.25623853C>T							p.G69G	NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN			4	378	+			69			Beta/gamma crystallin 'Greek key' 2.		Q9UCM8	Silent	SNP	ENST00000398215.2	37	c.207C>T	CCDS13831.1																																																																																				0.587	CRYBB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320350.1	NM_000496		45	80	0	0	0	1	0	45	80				
RTL1	388015	broad.mit.edu	37	14	101347483	101347483	+	Missense_Mutation	SNP	G	G	A	rs202003846		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:101347483G>A	ENST00000534062.1	-	1	3701	c.3643C>T	c.(3643-3645)Cgt>Tgt	p.R1215C	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1215					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGGTTCTGACGCAGGGCAGGG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17127	0.0		0.0	False		,,,				2504	0.0					ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(3643-3645)Cgt>Tgt		retrotransposon-like 1							15.0	16.0	16.0					14																	101347483		1559	3564	5123	SO:0001583	missense	388015							g.chr14:101347483G>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3643C>T	14.37:g.101347483G>A	ENSP00000435342:p.Arg1215Cys						p.R1215C	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	3701	-			1215					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.3643C>T	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408778	0.25378	.	.	ENSG00000254656	ENST00000534062	T	0.23950	1.88	3.33	-1.98	0.07480	.	3.476170	0.01548	N	0.019578	T	0.13756	0.0333	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	B	0.41135	0.348	T	0.10776	-1.0615	10	0.72032	D	0.01	.	1.3589	0.02187	0.1723:0.3556:0.2917:0.1803	.	1215	E9PKS8	.	C	1215	ENSP00000435342:R1215C	ENSP00000435342:R1215C	R	-	1	0	RTL1	100417236	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.057000	0.14279	-0.418000	0.07450	0.655000	0.94253	CGT		0.627	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		4	2	0	0	0	1	0	4	2				
ENPEP	2028	broad.mit.edu	37	4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	rs143343563		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GAAAAACTTTCGACTGCCGGA	0.612																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(274-276)Cga>Tga		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						73.0	78.0	76.0					4																	111397844		2203	4300	6503	SO:0001587	stop_gained	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397844C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.274C>T	4.37:g.111397844C>T	ENSP00000265162:p.Arg92*						p.R92*	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	616	+		Hepatocellular(203;0.217)	92					Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	c.274C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	37	6.060157	0.97246	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.83	1.79	0.24919	.	0.098719	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6881	0.69065	0.6339:0.3661:0.0:0.0	.	.	.	.	X	92	.	ENSP00000265162:R92X	R	+	1	2	ENPEP	111617293	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	1.799000	0.38824	0.461000	0.27071	-0.397000	0.06425	CGA		0.612	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			16	119	0	0	0	1	0	16	119				
VSIG4	11326	broad.mit.edu	37	X	65238753	65238753	+	IGR	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:65238753T>G	ENST00000374737.4	-	0	1834				MIR223_ENST00000385204.1_RNA	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTGACAAGCTGAGTTGGACA	0.532																																						ENST00000385204.1																			0																				50.0	40.0	43.0					X																	65238753		1568	3582	5150	SO:0001628	intergenic_variant	0							g.chrX:65238753T>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727		X.37:g.65238753T>G								NR_029637.1						0	42	+								Q6UXI4	RNA	SNP	ENST00000374737.4	37		CCDS14383.1																																																																																				0.532	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		6	8	0	0	0	1	0	6	8				
SLC39A4	55630	broad.mit.edu	37	8	145639357	145639357	+	Silent	SNP	C	C	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:145639357C>G	ENST00000301305.3	-	7	1377	c.1272G>C	c.(1270-1272)ctG>ctC	p.L424L	SLC39A4_ENST00000276833.5_Silent_p.L399L|SLC39A4_ENST00000531013.1_5'Flank	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	424					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTCCCTGGGCAGCAGGAGAT	0.652																																						ENST00000276833.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14						c.(1195-1197)ctG>ctC		solute carrier family 39 (zinc transporter), member 4							17.0	18.0	18.0					8																	145639357		2198	4283	6481	SO:0001819	synonymous_variant	55630					cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity	g.chr8:145639357C>G	AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1272G>C	8.37:g.145639357C>G						SLC39A4_ENST00000301305.3_Silent_p.L424L	p.L399L	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)		6	1500	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		424					Q7L5S5|Q9H6T8|Q9NXC4	Silent	SNP	ENST00000301305.3	37	c.1197G>C	CCDS6424.1																																																																																				0.652	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382688.1			15	10	0	0	0	1	0	15	10				
GAS2L1	10634	broad.mit.edu	37	22	29704343	29704343	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:29704343G>A	ENST00000406549.3	+	2	398	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000471961.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	83	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						CGCCCGGCCCGAGGTGTGGCC	0.692																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(247-249)cGa>cAa		growth arrest-specific 2 like 1							17.0	18.0	18.0					22																	29704343		2196	4293	6489	SO:0001583	missense	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29704343G>A	BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.248G>A	22.37:g.29704343G>A	ENSP00000383995:p.Arg83Gln					GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q	p.R83Q			Q99501	GA2L1_HUMAN			1	1296	+			83			CH.		B5MCR7|Q53EN7|Q92640|Q9BUY9	Missense_Mutation	SNP	ENST00000406549.3	37	c.248G>A		.	.	.	.	.	.	.	.	.	.	G	15.04	2.715292	0.48622	.	.	ENSG00000185340	ENST00000407647;ENST00000416823;ENST00000428622;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	T;T;T;T;T;T;T	0.50277	0.75;0.82;0.84;0.84;0.75;0.75;0.75	4.61	3.56	0.40772	Calponin homology domain (5);	0.161371	0.37906	N	0.001896	T	0.53997	0.1831	M	0.64404	1.975	0.09310	N	1	D;P;D;D	0.63880	0.992;0.863;0.993;0.993	P;B;P;P	0.57009	0.617;0.223;0.811;0.811	T	0.43163	-0.9408	10	0.37606	T	0.19	-3.8907	7.0679	0.25161	0.1074:0.1726:0.72:0.0	.	83;83;83;83	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	Q	83	ENSP00000385554:R83Q;ENSP00000383995:R83Q;ENSP00000353229:R83Q;ENSP00000344012:R83Q;ENSP00000385358:R83Q;ENSP00000450152:R83Q;ENSP00000385023:R83Q	ENSP00000332834:R83Q	R	+	2	0	GAS2L1	28034343	0.000000	0.05858	0.322000	0.25334	0.738000	0.42128	0.097000	0.15168	0.841000	0.35020	0.491000	0.48974	CGA		0.692	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478		6	24	0	0	0	1	0	6	24				
ACAN	176	broad.mit.edu	37	15	89386881	89386881	+	Splice_Site	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:89386881T>C	ENST00000561243.1	+	5	1051		c.e5+2		ACAN_ENST00000439576.2_Splice_Site|ACAN_ENST00000558207.1_Splice_Site|ACAN_ENST00000352105.7_Splice_Site|ACAN_ENST00000559004.1_Splice_Site			P16112	PGCA_HUMAN	aggrecan						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTACACAGGTGGGGCACGGC	0.607																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.e6+2		aggrecan							47.0	49.0	48.0					15																	89386881		1977	4159	6136	SO:0001630	splice_region_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89386881T>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1051+2T>C	15.37:g.89386881T>C						ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000558207.1_Splice_Site|ACAN_ENST00000352105.7_Splice_Site|ACAN_ENST00000561243.1_Splice_Site		NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		6	1425	+	Lung NSC(78;0.0392)|all_lung(78;0.077)							Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Splice_Site	SNP	ENST00000561243.1	37		CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712717	0.68730	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	.	.	.	5.56	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9399	0.52894	0.0:0.0:0.1456:0.8544	.	.	.	.	.	-1	.	.	.	+	.	.	ACAN	87187885	1.000000	0.71417	0.918000	0.36340	0.865000	0.49528	5.955000	0.70306	0.920000	0.36970	0.528000	0.53228	.		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	Intron	11	93	0	0	0	1	0	11	93				
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:7578524G>C	ENST00000269305.4	-	5	595	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000420246.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000574684.1_5'Flank	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	136	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)	TTGGCCAGTTGGCAAAACATC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Nonsense(36)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(5)|Substitution - Missense(4)|Insertion - In frame(2)|Insertion - Frameshift(1)|Complex - deletion inframe(1)	p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1)	upper_aerodigestive_tract(9)|ovary(9)|urinary_tract(8)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|stomach(5)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|skin(3)|lung(3)|soft_tissue(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM971503	TP53	M		c.(406-408)Caa>Gaa	Other conserved DNA damage response genes	tumor protein p53							52.0	52.0	52.0					17																	7578524		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578524G>C	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.406C>G	17.37:g.7578524G>C	ENSP00000269305:p.Gln136Glu	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_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E	p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	538	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	136		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.406C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708589	0.89018	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.48	5.48	0.80851	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	0.99753	0.9901	M	0.85373	2.75	0.80722	D	1	P;D;P;D;D;D;D	0.67145	0.95;0.977;0.572;0.989;0.996;0.981;0.996	P;D;B;P;D;D;D	0.69654	0.794;0.928;0.197;0.888;0.965;0.941;0.909	D	0.97401	0.9996	10	0.87932	D	0	-25.5387	17.2272	0.86973	0.0:0.0:1.0:0.0	.	97;136;136;43;136;136;136	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	136;136;136;136;136;136;125;43;4;43;4;136	ENSP00000410739:Q136E;ENSP00000352610:Q136E;ENSP00000269305:Q136E;ENSP00000398846:Q136E;ENSP00000391127:Q136E;ENSP00000391478:Q136E;ENSP00000425104:Q4E;ENSP00000423862:Q43E;ENSP00000424104:Q136E	ENSP00000269305:Q136E	Q	-	1	0	TP53	7519249	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	9.809000	0.99208	2.733000	0.93635	0.655000	0.94253	CAA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		55	14	0	0	0	1	0	55	14				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	133	0	0	0	1	0	5	133				
TTN	7273	broad.mit.edu	37	2	179591837	179591837	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:179591837C>A	ENST00000591111.1	-	67	19528	c.19304G>T	c.(19303-19305)aGt>aTt	p.S6435I	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6752I|TTN_ENST00000342992.6_Missense_Mutation_p.S5508I|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13202	Ig-like 45.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTGGTACTGCAGCTTGT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20254-20256)aGt>aTt		titin							119.0	116.0	117.0					2																	179591837		1897	4120	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179591837C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19304G>T	2.37:g.179591837C>A	ENSP00000465570:p.Ser6435Ile					TTN_ENST00000591111.1_Missense_Mutation_p.S6435I|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5508I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.S6752I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		69	20479	-			6435			Ig-like 49.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20255G>T		.	.	.	.	.	.	.	.	.	.	C	13.94	2.385945	0.42308	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84338	0.5450	M	0.86097	2.795	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	D	0.85462	0.1167	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	6435	Q8WZ42	TITIN_HUMAN	I	5508	ENSP00000343764:S5508I	ENSP00000343764:S5508I	S	-	2	0	TTN	179300082	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.807000	0.86032	2.854000	0.98071	0.655000	0.94253	AGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	104	1	0	0.00198382	1	0.00202942	6	104				
FBN1	2200	broad.mit.edu	37	15	48764791	48764791	+	Silent	SNP	G	G	A	rs112375043		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:48764791G>A	ENST00000316623.5	-	35	4748	c.4293C>T	c.(4291-4293)tgC>tgT	p.C1431C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1431	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		C -> W (in MFS; dbSNP:rs112375043). {ECO:0000269|PubMed:21542060}.|C -> Y (in MFS). {ECO:0000269|PubMed:21542060}.		extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCCATGTCGCATTCACAGC	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		16840	0.0		0.0	False		,,,				2504	0.001					ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(4291-4293)tgC>tgT		fibrillin 1							145.0	134.0	138.0					15																	48764791		2198	4296	6494	SO:0001819	synonymous_variant	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48764791G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4293C>T	15.37:g.48764791G>A							p.C1431C	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	35	4748	-		all_lung(180;0.00279)	1431			EGF-like 24; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	ENST00000316623.5	37	c.4293C>T	CCDS32232.1																																																																																				0.527	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			71	106	0	0	0	1	0	71	106				
ERO1LB	56605	broad.mit.edu	37	1	236389980	236389980	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:236389980T>A	ENST00000354619.5	-	11	973	c.772A>T	c.(772-774)Aat>Tat	p.N258Y		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	258					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	AGATGTAAATTGATGCTAGCA	0.299																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(772-774)Aat>Tat		ERO1-like beta (S. cerevisiae)							75.0	81.0	79.0					1																	236389980		2201	4296	6497	SO:0001583	missense	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236389980T>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.772A>T	1.37:g.236389980T>A	ENSP00000346635:p.Asn258Tyr						p.N258Y	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		11	973	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	258					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	ENST00000354619.5	37	c.772A>T	CCDS31064.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423591	0.83559	.	.	ENSG00000086619	ENST00000354619	T	0.45668	0.89	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.74763	-0.3555	10	0.87932	D	0	-33.11	15.8808	0.79205	0.0:0.0:0.0:1.0	.	258	Q86YB8	ERO1B_HUMAN	Y	258	ENSP00000346635:N258Y	ENSP00000346635:N258Y	N	-	1	0	ERO1LB	234456603	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.611000	0.82962	2.147000	0.66899	0.472000	0.43445	AAT		0.299	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		4	94	0	0	0	1	0	4	94				
POR	5447	broad.mit.edu	37	7	75612950	75612950	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:75612950A>T	ENST00000461988.1	+	9	1048	c.943A>T	c.(943-945)Atc>Ttc	p.I315F	POR_ENST00000545601.1_Missense_Mutation_p.I123F|POR_ENST00000419840.1_Missense_Mutation_p.I129F|POR_ENST00000394893.1_Missense_Mutation_p.I315F|POR_ENST00000450476.1_Missense_Mutation_p.I214F|POR_ENST00000439269.1_Missense_Mutation_p.I53F	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	312	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GGACTCCAAAATCAGGTACCA	0.622																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(943-945)Atc>Ttc		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						71.0	89.0	83.0					7																	75612950		2077	4201	6278	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75612950A>T	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.943A>T	7.37:g.75612950A>T	ENSP00000419970:p.Ile315Phe					POR_ENST00000545601.1_Missense_Mutation_p.I123F|POR_ENST00000450476.1_Missense_Mutation_p.I214F|POR_ENST00000439269.1_Missense_Mutation_p.I53F|POR_ENST00000461988.1_Missense_Mutation_p.I315F|POR_ENST00000419840.1_Missense_Mutation_p.I129F	p.I315F			P16435	NCPR_HUMAN			9	963	+			312			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.943A>T	CCDS5579.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.65|19.65	3.867932|3.867932	0.72065|0.72065	.|.	.|.	ENSG00000127948|ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269|ENST00000447222	T;T;T;T;T;T|.	0.68181|.	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31|.	5.2|5.2	2.85|2.85	0.33270|0.33270	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);|.	0.377447|.	0.29594|.	N|.	0.011720|.	T|T	0.59662|0.59662	0.2210|0.2210	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	B;D;P;P|.	0.61080|.	0.076;0.989;0.812;0.598|.	B;P;B;P|.	0.59424|.	0.078;0.857;0.376;0.51|.	T|T	0.55360|0.55360	-0.8153|-0.8153	10|5	0.72032|.	D|.	0.01|.	-17.0891|-17.0891	6.9099|6.9099	0.24329|0.24329	0.758:0.1622:0.0798:0.0|0.758:0.1622:0.0798:0.0	.|.	312;214;123;321|.	P16435;E7EVY7;F5H468;Q59ED7|.	NCPR_HUMAN;.;.;.|.	F|I	315;129;315;123;214;53|365	ENSP00000419970:I315F;ENSP00000414244:I129F;ENSP00000378355:I315F;ENSP00000446149:I123F;ENSP00000416572:I214F;ENSP00000412490:I53F|.	ENSP00000378355:I315F|.	I|N	+|+	1|2	0|0	POR|POR	75450886|75450886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	3.477000|3.477000	0.53151|0.53151	0.825000|0.825000	0.34637|0.34637	0.459000|0.459000	0.35465|0.35465	ATC|AAT		0.622	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		4	175	0	0	0	1	0	4	175				
TEX101	83639	broad.mit.edu	37	19	43922452	43922452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:43922452G>A	ENST00000598265.1	+	6	819	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000602198.1_Missense_Mutation_p.R236Q|TEX101_ENST00000253435.7_Missense_Mutation_p.R236Q	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	218						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTCAACCTCGAAAGACTGAA	0.498																																						ENST00000602198.1																			0				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(706-708)cGa>cAa		testis expressed 101							115.0	112.0	113.0					19																	43922452		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43922452G>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.653G>A	19.37:g.43922452G>A	ENSP00000472769:p.Arg218Gln					TEX101_ENST00000253435.7_Missense_Mutation_p.R236Q|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Missense_Mutation_p.R218Q	p.R236Q	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN			8	1149	+		Prostate(69;0.0199)	218					Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.707G>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003285	0.74932	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.10960	2.82	4.28	4.28	0.50868	.	0.000000	0.35805	N	0.002979	T	0.24812	0.0602	L	0.54323	1.7	0.29837	N	0.829536	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.01393	-1.1366	10	0.25751	T	0.34	-15.2851	12.5165	0.56036	0.0:0.0:1.0:0.0	.	218;236	Q9BY14;Q9BY14-2	TX101_HUMAN;.	Q	236;231	ENSP00000253435:R236Q	ENSP00000253435:R236Q	R	+	2	0	TEX101	48614292	0.253000	0.23982	0.900000	0.35374	0.005000	0.04900	1.054000	0.30455	2.659000	0.90383	0.563000	0.77884	CGA		0.498	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		53	79	0	0	0	1	0	53	79				
WDR81	124997	broad.mit.edu	37	17	1636086	1636086	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:1636086A>G	ENST00000409644.1	+	6	4450	c.4450A>G	c.(4450-4452)Atg>Gtg	p.M1484V	WDR81_ENST00000437219.2_Missense_Mutation_p.M281V|WDR81_ENST00000419248.1_Missense_Mutation_p.M257V|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.M115V|WDR81_ENST00000309182.5_Missense_Mutation_p.M433V|WDR81_ENST00000446363.1_Missense_Mutation_p.M123V	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1484					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCTGGAGATGGCATACAC	0.627																																						ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(4450-4452)Atg>Gtg		WD repeat domain 81							119.0	73.0	89.0					17																	1636086		2202	4300	6502	SO:0001583	missense	124997							g.chr17:1636086A>G	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.4450A>G	17.37:g.1636086A>G	ENSP00000386609:p.Met1484Val					RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.M257V|WDR81_ENST00000446363.1_Missense_Mutation_p.M123V|WDR81_ENST00000545662.1_Missense_Mutation_p.M115V|WDR81_ENST00000437219.2_Missense_Mutation_p.M281V|WDR81_ENST00000309182.5_Missense_Mutation_p.M433V	p.M1484V	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	4450	+			257					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	c.4450A>G	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915959	0.73098	.	.	ENSG00000167716	ENST00000437219;ENST00000309182;ENST00000446363;ENST00000419248;ENST00000418841;ENST00000409644;ENST00000354680;ENST00000545662	T;T;T;T;T;T;T	0.58060	2.3;2.15;0.42;2.33;0.4;0.44;0.36	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	L	0.55481	1.735	0.54753	D	0.99998	P;P;D;P	0.54964	0.817;0.817;0.969;0.9	B;B;D;B	0.63381	0.217;0.217;0.914;0.438	T	0.68096	-0.5499	10	0.59425	D	0.04	.	15.3314	0.74215	1.0:0.0:0.0:0.0	.	115;281;611;433	B7Z6V3;B7Z579;Q8TEL1;Q562E7	.;.;.;WDR81_HUMAN	V	281;433;123;257;69;1484;235;115	ENSP00000391074:M281V;ENSP00000312074:M433V;ENSP00000401560:M123V;ENSP00000407845:M257V;ENSP00000395198:M69V;ENSP00000386609:M1484V;ENSP00000442726:M115V	ENSP00000312074:M433V	M	+	1	0	WDR81	1582836	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.700000	0.74619	2.224000	0.72417	0.533000	0.62120	ATG		0.627	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		22	27	0	0	0	1	0	22	27				
FABP9	646480	broad.mit.edu	37	8	82371474	82371474	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:82371474A>T	ENST00000379071.2	-	2	227	c.172T>A	c.(172-174)Ttc>Atc	p.F58I	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	58					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			GTGTCCTGGAAAGAACTTTCT	0.433																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(172-174)Ttc>Atc		fatty acid binding protein 9, testis							189.0	182.0	184.0					8																	82371474		2203	4300	6503	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82371474A>T			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.172T>A	8.37:g.82371474A>T	ENSP00000368362:p.Phe58Ile					RP11-157I4.4_ENST00000524085.2_RNA	p.F58I	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		2	227	-			58						Missense_Mutation	SNP	ENST00000379071.2	37	c.172T>A		.	.	.	.	.	.	.	.	.	.	A	14.94	2.686684	0.48097	.	.	ENSG00000205186	ENST00000379071	T	0.09538	2.97	4.75	-4.31	0.03698	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.491866	0.23688	N	0.045544	T	0.08268	0.0206	L	0.58925	1.835	0.21105	N	0.999785	B	0.23891	0.093	B	0.27262	0.078	T	0.23797	-1.0178	10	0.56958	D	0.05	.	2.0818	0.03636	0.4654:0.1227:0.2931:0.1188	.	58	Q0Z7S8	FABP9_HUMAN	I	58	ENSP00000368362:F58I	ENSP00000368362:F58I	F	-	1	0	FABP9	82534029	0.376000	0.25098	0.000000	0.03702	0.231000	0.25187	0.363000	0.20301	-0.526000	0.06383	-0.256000	0.11100	TTC		0.433	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		5	152	0	0	0	1	0	5	152				
AMER2	219287	broad.mit.edu	37	13	25743874	25743874	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr13:25743874T>C	ENST00000515384.1	-	1	2551	c.1884A>G	c.(1882-1884)caA>caG	p.Q628Q	AMER2_ENST00000381853.3_Silent_p.Q509Q|AMER2_ENST00000357816.2_Silent_p.Q509Q			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	628					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TCCTGGAGGGTTGCTGGTGCA	0.557																																						ENST00000357816.2																			0											c.(1525-1527)caA>caG		APC membrane recruitment protein 2							143.0	133.0	136.0					13																	25743874		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25743874T>C	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1884A>G	13.37:g.25743874T>C						AMER2_ENST00000381853.3_Silent_p.Q509Q|AMER2_ENST00000515384.1_Silent_p.Q628Q	p.Q509Q							3	2002	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1527A>G	CCDS53859.1																																																																																				0.557	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		65	102	0	0	0	1	0	65	102				
RSAD2	91543	broad.mit.edu	37	2	7027291	7027291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:7027291G>A	ENST00000382040.3	+	3	870	c.734G>A	c.(733-735)tGg>tAg	p.W245*	RSAD2_ENST00000541728.1_Nonsense_Mutation_p.W138*	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCTGTCCGCTGGAAAGTAAGT	0.378																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(733-735)tGg>tAg		radical S-adenosyl methionine domain containing 2							52.0	49.0	50.0					2																	7027291		2203	4300	6503	SO:0001587	stop_gained	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7027291G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.734G>A	2.37:g.7027291G>A	ENSP00000371471:p.Trp245*					RSAD2_ENST00000541728.1_Nonsense_Mutation_p.W138*	p.W245*	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	3	870	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		245						Nonsense_Mutation	SNP	ENST00000382040.3	37	c.734G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	37	6.590467	0.97688	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.4912	20.0263	0.97523	0.0:0.0:1.0:0.0	.	.	.	.	X	245;138	.	.	W	+	2	0	RSAD2	6944742	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.265000	0.95647	2.735000	0.93741	0.655000	0.94253	TGG		0.378	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		14	42	0	0	0	1	0	14	42				
GJC3	349149	broad.mit.edu	37	7	99526519	99526519	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:99526519T>G	ENST00000312891.2	-	1	724	c.725A>C	c.(724-726)aAg>aCg	p.K242T	RP4-604G5.1_ENST00000456499.1_RNA	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	242					cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTTGCTTTCTTGTGTCTTCT	0.483																																						ENST00000312891.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(724-726)aAg>aCg		gap junction protein, gamma 3, 30.2kDa							126.0	124.0	125.0					7																	99526519		2203	4300	6503	SO:0001583	missense	349149					connexon complex|integral to membrane		g.chr7:99526519T>G	AF503615	CCDS34697.1	7q22.1	2008-09-04	2007-11-06	2007-11-06	ENSG00000176402	ENSG00000176402		"""Ion channels / Gap junction proteins (connexins)"""	17495	protein-coding gene	gene with protein product	"""connexin 30.2"""	611925	"""gap junction protein, epsilon 1, 29kDa"""	GJE1			Standard	NM_181538		Approved	CX30.2	uc011kjd.2	Q8NFK1	OTTHUMG00000156649	ENST00000312891.2:c.725A>C	7.37:g.99526519T>G	ENSP00000325775:p.Lys242Thr						p.K242T	NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN			1	724	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		242					A4D296|Q86XI9	Missense_Mutation	SNP	ENST00000312891.2	37	c.725A>C	CCDS34697.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287759	0.23478	.	.	ENSG00000176402	ENST00000312891	D	0.98012	-4.66	4.01	2.85	0.33270	.	1.407500	0.04933	N	0.457191	D	0.93831	0.8027	N	0.08118	0	0.09310	N	1	P	0.52316	0.952	P	0.46585	0.521	D	0.90082	0.4171	10	0.35671	T	0.21	.	6.32	0.21213	0.0:0.1121:0.0:0.8879	.	242	Q8NFK1	CXG3_HUMAN	T	242	ENSP00000325775:K242T	ENSP00000325775:K242T	K	-	2	0	GJC3	99364455	0.113000	0.22115	0.025000	0.17156	0.036000	0.12997	0.959000	0.29240	0.875000	0.35847	0.533000	0.62120	AAG		0.483	GJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345052.1	NM_181538		19	72	0	0	0	1	0	19	72				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	67	0	0	0	1	0	4	67				
RFC1	5981	broad.mit.edu	37	4	39306546	39306546	+	Silent	SNP	C	C	T			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:39306546C>T	ENST00000381897.1	-	15	2134	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	RFC1_ENST00000349703.2_Silent_p.E666E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	667					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1999-2001)gaG>gaA		replication factor C (activator 1) 1, 145kDa							182.0	187.0	185.0					4																	39306546		2203	4300	6503	SO:0001819	synonymous_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39306546C>T	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2001G>A	4.37:g.39306546C>T						RFC1_ENST00000349703.2_Silent_p.E666E	p.E667E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			15	2134	-			667					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	c.2001G>A	CCDS56329.1																																																																																				0.433	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		16	219	0	0	0	1	0	16	219				
PAK3	5063	broad.mit.edu	37	X	110385378	110385378	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:110385378A>G	ENST00000372010.1	+	6	672	c.230A>G	c.(229-231)gAg>gGg	p.E77G	PAK3_ENST00000360648.4_Missense_Mutation_p.E77G|PAK3_ENST00000372007.5_Missense_Mutation_p.E77G|PAK3_ENST00000425146.1_Missense_Mutation_p.E77G|PAK3_ENST00000262836.4_Missense_Mutation_p.E77G|PAK3_ENST00000518291.1_Missense_Mutation_p.E77G|PAK3_ENST00000446737.1_Missense_Mutation_p.E77G|PAK3_ENST00000417227.1_Missense_Mutation_p.E77G|PAK3_ENST00000519681.1_Missense_Mutation_p.E77G			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	77	Autoregulatory region. {ECO:0000250}.|CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.|GTPase-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCAGACTTTGAGCATACGATT	0.403										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(229-231)gAg>gGg		p21 protein (Cdc42/Rac)-activated kinase 3							197.0	193.0	194.0					X																	110385378		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385378A>G	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.230A>G	X.37:g.110385378A>G	ENSP00000361080:p.Glu77Gly	TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Missense_Mutation_p.E77G|PAK3_ENST00000425146.1_Missense_Mutation_p.E77G|PAK3_ENST00000417227.1_Missense_Mutation_p.E77G|PAK3_ENST00000360648.4_Missense_Mutation_p.E77G|PAK3_ENST00000262836.4_Missense_Mutation_p.E77G|PAK3_ENST00000518291.1_Missense_Mutation_p.E77G|PAK3_ENST00000372007.4_Missense_Mutation_p.E77G|PAK3_ENST00000372010.1_Missense_Mutation_p.E77G	p.E77G			O75914	PAK3_HUMAN			6	672	+			77			Autoregulatory region (By similarity).|CRIB.|GTPase-binding (By similarity).		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.230A>G	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.204991	0.79127	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000429193;ENST00000360648;ENST00000417227;ENST00000262836	D;D;D;D;D;D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.96	4.78	0.61160	PAK-box/P21-Rho-binding (3);	0.053164	0.64402	D	0.000001	D	0.93776	0.8010	M	0.90252	3.1	0.80722	D	1	D;P;D;D	0.63046	0.989;0.938;0.992;0.981	D;P;D;P	0.68621	0.931;0.813;0.959;0.9	D	0.93575	0.6907	10	0.62326	D	0.03	.	11.6631	0.51358	0.8652:0.0:0.0:0.1348	.	77;77;77;77	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	G	77	ENSP00000410853:E77G;ENSP00000401982:E77G;ENSP00000361080:E77G;ENSP00000429113:E77G;ENSP00000361077:E77G;ENSP00000428921:E77G;ENSP00000405642:E77G;ENSP00000353864:E77G;ENSP00000389172:E77G;ENSP00000262836:E77G	ENSP00000262836:E77G	E	+	2	0	PAK3	110272034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	0.838000	0.34948	0.486000	0.48141	GAG		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		5	204	0	0	0	1	0	5	204				
ENTPD7	57089	broad.mit.edu	37	10	101464242	101464242	+	Silent	SNP	T	T	C			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:101464242T>C	ENST00000370489.4	+	13	1795	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	539						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GACAAGCCCATGGTAGCTGGT	0.458																																						ENST00000370489.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18						c.(1615-1617)caT>caC		ectonucleoside triphosphate diphosphohydrolase 7							189.0	153.0	165.0					10																	101464242		2203	4300	6503	SO:0001819	synonymous_variant	57089					cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	g.chr10:101464242T>C	AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1617T>C	10.37:g.101464242T>C						CUTC_ENST00000493385.1_Intron	p.H539H	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)	13	1795	+		Colorectal(252;0.234)	539					B2RB83|B3KP21|D3DR64	Silent	SNP	ENST00000370489.4	37	c.1617T>C	CCDS7480.1																																																																																				0.458	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049809.2	NM_020354		37	72	0	0	0	1	0	37	72				
CALD1	800	broad.mit.edu	37	7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-	rs573221724	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agggag>agg	p.E321del	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483														8	0.00159744	0.0	0.0029	5008	,	,		20620	0.0		0.006	False		,,,				2504	0.0					ENST00000361675.2																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(952-957)agg>ag		caldesmon 1			,,,,	6,4242		0,6,2118					,,,,	2.6	0.0			118	69,8165		2,65,4050	no	intron,intron,intron,coding,intron	CALD1	NM_033157.3,NM_033140.3,NM_033139.3,NM_033138.3,NM_004342.6	,,,,	2,71,6168	A1A1,A1R,RR		0.838,0.1412,0.6009	,,,,	,,,,		75,12407				SO:0001651	inframe_deletion	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618474_134618476delGGA	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.954_956delGGA	7.37:g.134618477_134618479delGGA	ENSP00000354826:p.Glu321del					CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron	p.RE318del			Q05682	CALD1_HUMAN			5	1183_1185	+			318					A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	In_Frame_Del	DEL	ENST00000361675.2	37	c.954_956delGGA	CCDS5835.1																																																																																				0.483	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		8	7						8	7	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778782	76778782	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:76778782delA	ENST00000373344.5	-	31	7011	c.6797delT	c.(6796-6798)ttgfs	p.L2266fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2228fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266	Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTTCAGTCAACTCTTCTTC	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6796-6798)tgfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						247.0	202.0	217.0					X																	76778782		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778782delA	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6797delT	X.37:g.76778782delA	ENSP00000362441:p.Leu2266fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2228fs	p.L2266fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7011	-			2266					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.6797delT	CCDS14434.1																																																																																				0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		48	148						48	148	---	---	---	---
