#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
DRC7	84229	broad.mit.edu	37	16	57761287	57761287	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:57761287G>A	ENST00000360716.3	+	16	2383	c.2162G>A	c.(2161-2163)cGg>cAg	p.R721Q	CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q|CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q			Q8IY82	CC135_HUMAN		721					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACACCAAGCGGAATGAGAAG	0.567																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(2161-2163)cGg>cAg		coiled-coil domain containing 135							140.0	128.0	132.0					16																	57761287		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57761287G>A																												ENST00000360716.3:c.2162G>A	16.37:g.57761287G>A	ENSP00000353942:p.Arg721Gln					CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q|CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q	p.R721Q			Q8IY82	CC135_HUMAN			16	2383	+			721					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.2162G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	19.58	3.854997	0.71719	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.13196	2.8;2.61;2.8	4.47	4.47	0.54385	.	0.189304	0.45867	D	0.000322	T	0.38401	0.1039	M	0.75085	2.285	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.31752	-0.9932	10	0.72032	D	0.01	-28.3694	16.0989	0.81152	0.0:0.0:1.0:0.0	.	656;721	Q8IY82-2;Q8IY82	.;CC135_HUMAN	Q	721;656;721	ENSP00000377869:R721Q;ENSP00000338938:R656Q;ENSP00000353942:R721Q	ENSP00000338938:R656Q	R	+	2	0	CCDC135	56318788	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	6.510000	0.73729	2.225000	0.72522	0.298000	0.19748	CGG		0.567	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			4	184	0	0	0	1	0	4	184				
IDO2	169355	broad.mit.edu	37	8	39840263	39840263	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:39840263G>A	ENST00000389060.4	+	4	408	c.408G>A	c.(406-408)acG>acA	p.T136T	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Silent_p.T149T|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	136					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TGGTGCTGACGAACTGGACCA	0.468																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(445-447)acG>acA		indoleamine 2,3-dioxygenase 2							61.0	60.0	60.0					8																	39840263		1885	4108	5993	SO:0001819	synonymous_variant	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39840263G>A	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.408G>A	8.37:g.39840263G>A						RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000389060.4_Silent_p.T136T|IDO2_ENST00000343295.4_3'UTR	p.T149T	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			5	689	+			136					A4UD41	Silent	SNP	ENST00000389060.4	37	c.447G>A																																																																																					0.468	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		12	20	0	0	0	1	0	12	20				
KBTBD2	25948	broad.mit.edu	37	7	32909720	32909720	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:32909720C>T	ENST00000304056.4	-	4	1808	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'Flank	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370								p.R370H(2)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGCTTTATGCGGACAAAAAG	0.428																																						ENST00000304056.4																			2	Substitution - Missense(2)	p.R370H(2)	urinary_tract(1)|lung(1)	endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1108-1110)cGc>cAc		kelch repeat and BTB (POZ) domain containing 2							147.0	135.0	139.0					7																	32909720		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909720C>T	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1109G>A	7.37:g.32909720C>T	ENSP00000302586:p.Arg370His					AVL9_ENST00000404479.1_Intron	p.R370H	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1808	-			370					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1109G>A	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661576	0.47572	.	.	ENSG00000170852	ENST00000304056	T	0.79554	-1.28	5.65	5.65	0.86999	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	M	0.85710	2.77	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91717	0.5386	10	0.87932	D	0	.	20.0752	0.97739	0.0:1.0:0.0:0.0	.	370	Q8IY47	KBTB2_HUMAN	H	370	ENSP00000302586:R370H	ENSP00000302586:R370H	R	-	2	0	KBTBD2	32876245	1.000000	0.71417	0.964000	0.40570	0.951000	0.60555	7.445000	0.80570	2.826000	0.97356	0.491000	0.48974	CGC		0.428	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		5	282	0	0	0	1	0	5	282				
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000187910.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185.0	196.0	192.0					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		5	551	0	0	0	1	0	5	551				
HMCN1	83872	broad.mit.edu	37	1	186120454	186120454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:186120454A>T	ENST00000271588.4	+	94	14960	c.14731A>T	c.(14731-14733)Aaa>Taa	p.K4911*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4911	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATACGTGCCAAAATTACCAA	0.313																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(14731-14733)Aaa>Taa		hemicentin 1							113.0	111.0	112.0					1																	186120454		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186120454A>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14731A>T	1.37:g.186120454A>T	ENSP00000271588:p.Lys4911*					HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			94	14960	+			4911			Nidogen G2 beta-barrel.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.14731A>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	56	25.332086	0.99964	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.13	2.59	0.31030	.	0.334076	0.34200	N	0.004170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6518	0.22967	0.7607:0.1496:0.0897:0.0	.	.	.	.	X	4911	.	ENSP00000271588:K4911X	K	+	1	0	HMCN1	184387077	0.981000	0.34729	0.376000	0.26042	0.712000	0.41017	4.122000	0.57910	0.202000	0.20498	0.533000	0.62120	AAA		0.313	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		40	102	0	0	0	1	0	40	102				
ANGPT4	51378	broad.mit.edu	37	20	865871	865871	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:865871G>A	ENST00000381922.3	-	4	787	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	229					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGCTCTGGCGGCTCAGCGTG	0.672																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(685-687)Cgc>Tgc		angiopoietin 4							21.0	18.0	19.0					20																	865871		2200	4294	6494	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:865871G>A	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.685C>T	20.37:g.865871G>A	ENSP00000371347:p.Arg229Cys					ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			4	787	-			229					B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.685C>T	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.459546	0.43736	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.14391	2.51;2.51	4.69	3.71	0.42584	.	0.591514	0.16713	N	0.202593	T	0.27134	0.0665	L	0.52011	1.625	0.33744	D	0.619764	D;D	0.89917	1.0;1.0	P;P	0.62184	0.899;0.854	T	0.37174	-0.9717	10	0.72032	D	0.01	.	11.1427	0.48413	0.0:0.0:0.8151:0.1848	.	229;229	B4E3J9;Q9Y264	.;ANGP4_HUMAN	C	229	ENSP00000371347:R229C;ENSP00000439605:R229C	ENSP00000371347:R229C	R	-	1	0	ANGPT4	813871	0.998000	0.40836	1.000000	0.80357	0.229000	0.25112	1.453000	0.35167	1.168000	0.42723	0.450000	0.29827	CGC		0.672	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		7	14	0	0	0	1	0	7	14				
MTSS1	9788	broad.mit.edu	37	8	125603405	125603405	+	Silent	SNP	T	T	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:125603405T>G	ENST00000518547.1	-	4	753	c.280A>C	c.(280-282)Agg>Cgg	p.R94R	MTSS1_ENST00000378017.3_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Silent_p.R94R	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	94	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAACTGCCTCAGCTTGGCT	0.512																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(280-282)Agg>Cgg		metastasis suppressor 1							173.0	131.0	146.0					8																	125603405		2203	4300	6503	SO:0001819	synonymous_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125603405T>G	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.280A>C	8.37:g.125603405T>G						MTSS1_ENST00000325064.5_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Silent_p.R94R	p.R94R	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	753	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		94			IMD.		J3KNK6|Q8TCA2|Q96RX2	Silent	SNP	ENST00000518547.1	37	c.280A>C	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	T	9.327	1.059473	0.19987	.	.	ENSG00000170873	ENST00000522162	.	.	.	5.77	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.9679	14.427	0.67222	0.0:0.0:0.4827:0.5173	.	.	.	.	C	88	.	.	X	-	3	0	MTSS1	125672586	0.813000	0.29090	0.998000	0.56505	0.869000	0.49853	0.105000	0.15333	0.094000	0.17404	-0.321000	0.08615	TGA		0.512	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		15	176	0	0	0	1	0	15	176				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			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	328	0	0	0	1	0	4	328				
USH1C	10083	broad.mit.edu	37	11	17522639	17522639	+	Missense_Mutation	SNP	A	A	C	rs570951456		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:17522639A>C	ENST00000318024.4	-	18	1547	c.1439T>G	c.(1438-1440)gTc>gGc	p.V480G	USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000005226.7_Missense_Mutation_p.V780G|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G|USH1C_ENST00000529563.1_5'UTR	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	480	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCAGAAACGACCACCTTCCC	0.592																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(2338-2340)gTc>gGc		Usher syndrome 1C (autosomal recessive, severe)							78.0	63.0	68.0					11																	17522639		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17522639A>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1439T>G	11.37:g.17522639A>C	ENSP00000317018:p.Val480Gly					USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000318024.4_Missense_Mutation_p.V480G|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G	p.V780G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			23	2338	-			480					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.2339T>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.551003	0.86127	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.27	5.27	0.74061	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000003	T	0.55862	0.1947	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	T	0.60591	-0.7233	10	0.87932	D	0	.	14.3246	0.66509	1.0:0.0:0.0:0.0	.	461;480;780	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	G	480;449;461;780	ENSP00000317018:V480G;ENSP00000432944:V449G;ENSP00000436934:V461G;ENSP00000005226:V780G	ENSP00000005226:V780G	V	-	2	0	USH1C	17479215	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.519000	0.81809	2.213000	0.71641	0.528000	0.53228	GTC		0.592	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		6	35	0	0	0	1	0	6	35				
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						ENST00000420699.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		ankyrin repeat domain 36							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_ENST00000461153.2_Missense_Mutation_p.T998S	p.T998S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			8	58	0	0	0	1	0	8	58				
IKBKE	9641	broad.mit.edu	37	1	206650062	206650062	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:206650062G>A	ENST00000367120.3	+	7	955	c.582G>A	c.(580-582)caG>caA	p.Q194Q	IKBKE_ENST00000537984.1_Silent_p.Q109Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	194	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAAAGCCCCAGCAAAAAGCGT	0.612																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(580-582)caG>caA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							83.0	71.0	75.0					1																	206650062		2203	4300	6503	SO:0001819	synonymous_variant	0				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206650062G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.582G>A	1.37:g.206650062G>A						IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Silent_p.Q109Q	p.Q194Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			7	955	+	Breast(84;0.137)		194			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	37	c.582G>A	CCDS30996.1																																																																																				0.612	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			4	82	0	0	0	1	0	4	82				
GRIA4	2893	broad.mit.edu	37	11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:105769151A>G	ENST00000530497.1	+	6	883	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000393127.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACTCCTCCAAAGGTATTTGT	0.313																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(883-885)Aag>Gag		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						44.0	45.0	45.0					11																	105769151		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105769151A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.883A>G	11.37:g.105769151A>G	ENSP00000435775:p.Lys295Glu					GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E	p.K295E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	7	1329	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	295					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.883A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940211	0.73557	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.367744	0.26314	N	0.025092	T	0.32675	0.0837	M	0.63843	1.955	0.80722	D	1	B;P;B	0.41393	0.277;0.748;0.17	B;P;B	0.45753	0.297;0.492;0.158	T	0.05954	-1.0854	10	0.72032	D	0.01	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	295;295;295	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	E	295	ENSP00000376833:K295E;ENSP00000282499:K295E;ENSP00000376835:K295E;ENSP00000415551:K295E;ENSP00000435775:K295E;ENSP00000432180:K295E	ENSP00000282499:K295E	K	+	1	0	GRIA4	105274361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.979000	0.76154	2.184000	0.69523	0.533000	0.62120	AAG		0.313	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			23	135	0	0	0	1	0	23	135				
UBR2	23304	broad.mit.edu	37	6	42620362	42620362	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42620362G>A	ENST00000372899.1	+	25	3006	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*	UBR2_ENST00000372901.1_Nonsense_Mutation_p.W916*|UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	916					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATATGCCTGGTCAGAGTCCA	0.368																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(2746-2748)tgG>tgA		ubiquitin protein ligase E3 component n-recognin 2							148.0	133.0	138.0					6																	42620362		2203	4300	6503	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42620362G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2748G>A	6.37:g.42620362G>A	ENSP00000361990:p.Trp916*					UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*|UBR2_ENST00000372899.1_Nonsense_Mutation_p.W916*	p.W916*			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		25	3006	+	Colorectal(47;0.196)		916					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.2748G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	43	10.341367	0.99387	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-16.4596	19.4267	0.94743	0.0:0.0:1.0:0.0	.	.	.	.	X	916;916;420	.	ENSP00000361974:W420X	W	+	3	0	UBR2	42728340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.582000	0.87167	0.655000	0.94253	TGG		0.368	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		6	248	0	0	0	1	0	6	248				
CATSPER1	117144	broad.mit.edu	37	11	65787824	65787824	+	Silent	SNP	C	C	T	rs141309763		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65787824C>T	ENST00000312106.5	-	8	2165	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	676					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAACAGCGCCGTCTGGAAGC	0.627																																						ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(2026-2028)acG>acA		cation channel, sperm associated 1		C		1,4401	2.1+/-5.4	0,1,2200	117.0	113.0	114.0		2028	4.2	1.0	11	dbSNP_134	114	0,8592		0,0,4296	no	coding-synonymous	CATSPER1	NM_053054.3		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		676/781	65787824	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65787824C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.2028G>A	11.37:g.65787824C>T							p.T676T	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			8	2165	-			676					Q96P76	Silent	SNP	ENST00000312106.5	37	c.2028G>A	CCDS8127.1																																																																																				0.627	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		4	257	0	0	0	1	0	4	257				
XKR6	286046	broad.mit.edu	37	8	10756203	10756203	+	Silent	SNP	G	G	A	rs150672872		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:10756203G>A	ENST00000416569.2	-	3	1211	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C	XKR6_ENST00000304437.2_Silent_p.C116C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	395						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGGCCATGGCGCACCAGTGAA	0.512																																						ENST00000416569.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31						c.(1183-1185)tgC>tgT		XK, Kell blood group complex subunit-related family, member 6		G		0,4406		0,0,2203	95.0	89.0	91.0		1185	-0.7	1.0	8	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	XKR6	NM_173683.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		395/642	10756203	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:10756203G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1185C>T	8.37:g.10756203G>A						XKR6_ENST00000304437.2_Silent_p.C116C	p.C395C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1211	-			395					Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.1185C>T	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	G	4.279	0.051014	0.08243	0.0	1.16E-4	ENSG00000171044	ENST00000382461	.	.	.	5.49	-0.721	0.11189	.	.	.	.	.	T	0.57961	0.2089	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54302	-0.8314	4	.	.	.	-1.4679	11.1516	0.48462	0.4778:0.0:0.5222:0.0	.	.	.	.	V	172	.	.	A	-	2	0	XKR6	10793613	0.772000	0.28567	0.998000	0.56505	0.998000	0.95712	-0.096000	0.11059	-0.047000	0.13423	0.561000	0.74099	GCG		0.512	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		17	98	0	0	0	1	0	17	98				
ANKRD36	375248	broad.mit.edu	37	2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	rs111515821		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:97869979G>T	ENST00000461153.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.D1014Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328																																						ENST00000420699.2																			5	Substitution - Missense(5)	p.D1014Y(5)	endometrium(2)|skin(2)|kidney(1)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(3040-3042)Gat>Tat		ankyrin repeat domain 36							29.0	35.0	33.0					2																	97869979		692	1589	2281	SO:0001583	missense	375248							g.chr2:97869979G>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3040G>T	2.37:g.97869979G>T	ENSP00000419530:p.Asp1014Tyr					ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			50	3284	+			1014					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.3040G>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	2.724	-0.265945	0.05754	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.76578	-1.03;-1.03	0.63	0.63	0.17693	.	.	.	.	.	T	0.79287	0.4420	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.66440	-0.5923	8	0.52906	T	0.07	.	.	.	.	.	1014	A6QL64	AN36A_HUMAN	Y	1014;1014;376	ENSP00000419530:D1014Y;ENSP00000391950:D1014Y	ENSP00000391950:D1014Y	D	+	1	0	ANKRD36	97233706	0.010000	0.17322	0.018000	0.16275	0.005000	0.04900	0.408000	0.21065	0.612000	0.30071	0.175000	0.17021	GAT		0.328	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			6	46	1	0	0.0215528	1	0.021848	6	46				
AHNAK2	113146	broad.mit.edu	37	14	105412807	105412807	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr14:105412807C>T	ENST00000333244.5	-	7	9100	c.8981G>A	c.(8980-8982)gGc>gAc	p.G2994D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2994						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)			AATGGACTTGCCTGGGGCAGA	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(8980-8982)gGc>gAc		AHNAK nucleoprotein 2							266.0	276.0	272.0					14																	105412807		1986	4147	6133	SO:0001583	missense	113146					nucleus		g.chr14:105412807C>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.8981G>A	14.37:g.105412807C>T	ENSP00000353114:p.Gly2994Asp					AHNAK2_ENST00000557457.1_Intron	p.G2994D	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	9100	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2994					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.8981G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	5.231	0.228102	0.09916	.	.	ENSG00000185567	ENST00000333244	T	0.02552	4.25	4.35	1.14	0.20703	.	.	.	.	.	T	0.04363	0.0120	M	0.89904	3.07	0.09310	N	1	B	0.31459	0.324	B	0.24394	0.053	T	0.44467	-0.9326	9	0.14252	T	0.57	.	0.9635	0.01400	0.1887:0.4167:0.1837:0.2109	.	2994	Q8IVF2	AHNK2_HUMAN	D	2994	ENSP00000353114:G2994D	ENSP00000353114:G2994D	G	-	2	0	AHNAK2	104483852	.	.	0.068000	0.19968	0.019000	0.09904	.	.	0.281000	0.22233	-0.350000	0.07774	GGC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	914	0	0	0	1	0	7	914				
H1FNT	341567	broad.mit.edu	37	12	48723148	48723148	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:48723148C>T	ENST00000335017.1	+	1	386	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ATGGCTGAGGCGCCTGGGCCC	0.657																																						ENST00000335017.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(73-75)gCg>gTg		H1 histone family, member N, testis-specific							16.0	19.0	18.0					12																	48723148		2202	4298	6500	SO:0001583	missense	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723148C>T	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.74C>T	12.37:g.48723148C>T	ENSP00000334805:p.Ala25Val						p.A25V	NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN			1	386	+			25					Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	c.74C>T	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613701	0.46631	.	.	ENSG00000187166	ENST00000335017	T	0.20738	2.05	5.03	-0.546	0.11840	.	.	.	.	.	T	0.07908	0.0198	N	0.17474	0.49	0.09310	N	1	B	0.32350	0.366	B	0.20184	0.028	T	0.28618	-1.0038	9	0.23302	T	0.38	-0.0405	0.8406	0.01149	0.2972:0.3529:0.1583:0.1917	.	25	Q75WM6	H1FNT_HUMAN	V	25	ENSP00000334805:A25V	ENSP00000334805:A25V	A	+	2	0	H1FNT	47009415	0.000000	0.05858	0.001000	0.08648	0.283000	0.27025	-1.129000	0.03244	-0.453000	0.07076	0.650000	0.86243	GCG		0.657	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788		4	37	0	0	0	1	0	4	37				
ANKRD29	147463	broad.mit.edu	37	18	21199494	21199494	+	Splice_Site	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr18:21199494C>T	ENST00000592179.1	-	7	782		c.e7+1		ANKRD29_ENST00000284207.7_Splice_Site|ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000322980.9_Splice_Site	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29											breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGGCACTCACGTTCCGCGCA	0.687																																						ENST00000592179.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13						c.e7+1		ankyrin repeat domain 29							10.0	10.0	10.0					18																	21199494		2140	4182	6322	SO:0001630	splice_region_variant	147463							g.chr18:21199494C>T	AK057782	CCDS11879.1	18q11.2	2013-01-10			ENSG00000154065	ENSG00000154065		"""Ankyrin repeat domain containing"""	27110	protein-coding gene	gene with protein product							Standard	NM_173505		Approved	FLJ25053	uc002kun.3	Q8N6D5	OTTHUMG00000131875	ENST00000592179.1:c.627+1G>A	18.37:g.21199494C>T						ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000322980.9_Splice_Site|ANKRD29_ENST00000284207.7_Splice_Site		NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN			7	782	-	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)							B2R972|Q6ZWE8|Q96LU9	Splice_Site	SNP	ENST00000592179.1	37		CCDS11879.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065259	0.93898	.	.	ENSG00000154065	ENST00000322980;ENST00000284207	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2822	0.87131	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD29	19453492	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	6.088000	0.71371	2.442000	0.82660	0.561000	0.74099	.		0.687	ANKRD29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254825.1	NM_173505	Intron	6	22	0	0	0	1	0	6	22				
CASP2	835	broad.mit.edu	37	7	142989399	142989399	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:142989399G>T	ENST00000310447.5	+	3	473	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	CASP2_ENST00000392925.2_Missense_Mutation_p.V78L|RN7SL535P_ENST00000479087.2_RNA|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	78	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTAGGCCAAAGTGGGCAGTTT	0.443																																						ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(232-234)Gtg>Ttg		caspase 2, apoptosis-related cysteine peptidase							114.0	115.0	115.0					7																	142989399		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142989399G>T	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.232G>T	7.37:g.142989399G>T	ENSP00000312664:p.Val78Leu					CASP2_ENST00000392925.2_Missense_Mutation_p.V78L|CASP2_ENST00000493642.1_3'UTR	p.V78L	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			3	473	+	Melanoma(164;0.059)		78			CARD.		A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.232G>T	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	g	12.54	1.969463	0.34754	.	.	ENSG00000106144	ENST00000310447;ENST00000392925;ENST00000392923	T;T	0.20200	2.09;2.09	5.68	4.81	0.61882	DEATH-like (2);Caspase Recruitment (3);	0.782162	0.12682	N	0.447939	T	0.12987	0.0315	N	0.14661	0.345	0.20563	N	0.999885	B;B	0.24317	0.101;0.03	B;B	0.25506	0.061;0.05	T	0.26326	-1.0106	10	0.28530	T	0.3	.	9.0658	0.36462	0.0767:0.0:0.7689:0.1545	.	78;78	E9PDN0;P42575	.;CASP2_HUMAN	L	78;78;47	ENSP00000312664:V78L;ENSP00000376656:V78L	ENSP00000312664:V78L	V	+	1	0	CASP2	142699521	1.000000	0.71417	0.991000	0.47740	0.986000	0.74619	2.352000	0.44080	1.423000	0.47198	0.650000	0.86243	GTG		0.443	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		11	137	1	0	4.3838e-07	1	4.70147e-07	11	137				
ITIH5	80760	broad.mit.edu	37	10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	rs547413516		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20788	0.001		0.0	False		,,,				2504	0.0					ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1642-1644)Cgg>Tgg		inter-alpha-trypsin inhibitor heavy chain family, member 5							66.0	63.0	64.0					10																	7618752		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618752G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1642C>T	10.37:g.7618752G>A	ENSP00000256861:p.Arg548Trp					ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W	p.R548W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1720	-			548					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1642C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173195	0.78452	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.41	4.47	0.54385	.	0.880038	0.10177	N	0.706378	T	0.17534	0.0421	.	.	.	0.19775	N	0.99995	D;D;D	0.60160	0.961;0.987;0.972	B;B;P	0.45138	0.191;0.28;0.471	T	0.13308	-1.0514	9	0.87932	D	0	-14.6668	11.1572	0.48495	0.1438:0.7182:0.138:0.0	.	548;548;334	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	W	548;548;334;330;548	ENSP00000256861:R548W;ENSP00000380333:R548W;ENSP00000298441:R334W;ENSP00000387969:R330W;ENSP00000380332:R548W	ENSP00000256861:R548W	R	-	1	2	ITIH5	7658758	0.569000	0.26643	0.810000	0.32431	0.029000	0.11900	0.932000	0.28884	1.281000	0.44480	-0.357000	0.07601	CGG		0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		4	109	0	0	0	1	0	4	109				
KNG1	3827	broad.mit.edu	37	3	186445048	186445048	+	Missense_Mutation	SNP	G	G	A	rs144123648		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:186445048G>A	ENST00000265023.4	+	5	799	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	196	Cystatin kininogen-type 2. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTGAACTTTCGAATTACCTAC	0.368													G|||	1	0.000199681	0.0	0.0	5008	,	,		15361	0.0		0.001	False		,,,				2504	0.0					ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(586-588)cGa>cAa		kininogen 1	Ouabain(DB01092)	G	GLN/ARG,GLN/ARG,	0,4406		0,0,2203	102.0	103.0	103.0		587,587,	-2.0	0.0	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,intron	KNG1	NM_000893.3,NM_001102416.2,NM_001166451.1	43,43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,	196/428,196/645,	186445048	1,13005	2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186445048G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.587G>A	3.37:g.186445048G>A	ENSP00000265023:p.Arg196Gln					KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	p.R196Q	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	5	799	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		196			Cystatin 2.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.587G>A	CCDS43183.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.607	-0.826630	0.02734	0.0	1.16E-4	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000432028	T;T	0.25579	1.79;1.79	4.98	-2.04	0.07343	Proteinase inhibitor I25, cystatin, conserved site (1);Proteinase inhibitor I25, cystatin (2);	1.852440	0.02350	N	0.075800	T	0.09069	0.0224	N	0.01705	-0.755	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.12837	0.008;0.006	T	0.21552	-1.0242	10	0.11182	T	0.66	0.2475	5.3098	0.15823	0.6339:0.0:0.2378:0.1282	.	196;196	P01042;P01042-2	KNG1_HUMAN;.	Q	196;196;184	ENSP00000287611:R196Q;ENSP00000265023:R196Q	ENSP00000265023:R196Q	R	+	2	0	KNG1	187927742	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.412000	0.07132	-0.390000	0.07774	-2.992000	0.00078	CGA		0.368	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		8	141	0	0	0	1	0	8	141				
TTN	7273	broad.mit.edu	37	2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A	rs539800132	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:179542881G>A	ENST00000591111.1	-	143	33238	c.33014C>T	c.(33013-33015)cCg>cTg	p.P11005L	TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11322L|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10151	Glu-rich.|Pro-rich.				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)	p.P10078L(1)		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)			CACTTTTTTCGGAACAGGTGT	0.358													G|||	2	0.000399361	0.0	0.0	5008	,	,		16675	0.0		0.0	False		,,,				2504	0.002					ENST00000589042.1																			1	Substitution - Missense(1)	p.P10078L(1)	large_intestine(1)	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.(33964-33966)cCg>cTg		titin							182.0	168.0	172.0					2																	179542881		1840	4099	5939	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542881G>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.33014C>T	2.37:g.179542881G>A	ENSP00000465570:p.Pro11005Leu					TTN_ENST00000591111.1_Missense_Mutation_p.P11005L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron	p.P11322L	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)		145	34189	-			11005			Glu-rich.|Pro-rich.		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.33965C>T		.	.	.	.	.	.	.	.	.	.	G	14.25	2.479357	0.44044	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.70749	-0.51	5.8	-2.63	0.06133	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.56001	0.1956	L	0.45352	1.415	0.36563	D	0.872538	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.32771	-0.9894	9	0.87932	D	0	.	5.3903	0.16240	0.4164:0.2475:0.3361:0.0	.	11005;10551	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	L	10078;746	ENSP00000343764:P10078L	ENSP00000343764:P10078L	P	-	2	0	TTN	179251126	0.000000	0.05858	0.318000	0.25279	0.832000	0.47134	0.094000	0.15107	-0.936000	0.03723	-0.145000	0.13849	CCG		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	146	0	0	0	1	0	29	146				
FAM167A	83648	broad.mit.edu	37	8	11301717	11301717	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:11301717C>A	ENST00000528897.1	-	2	823	c.204G>T	c.(202-204)caG>caT	p.Q68H	FAM167A_ENST00000284486.4_Missense_Mutation_p.Q68H|FAM167A_ENST00000531564.1_5'Flank|FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	68										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CCAAGCTCGCCTGTGGCTCCG	0.692																																						ENST00000284486.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						c.(202-204)caG>caT		family with sequence similarity 167, member A							26.0	31.0	29.0					8																	11301717		2200	4297	6497	SO:0001583	missense	83648							g.chr8:11301717C>A		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.204G>T	8.37:g.11301717C>A	ENSP00000436655:p.Gln68His					FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H|FAM167A_ENST00000528897.1_Missense_Mutation_p.Q68H	p.Q68H	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN			2	742	-			68					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.204G>T	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411018	0.25465	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	3.68	2.77	0.32553	.	0.651348	0.13792	N	0.362437	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	B	0.21071	0.051	B	0.25405	0.06	T	0.38394	-0.9663	10	0.62326	D	0.03	-22.6628	11.2248	0.48877	0.1848:0.8152:0.0:0.0	.	68	Q96KS9	F167A_HUMAN	H	68	ENSP00000284486:Q68H;ENSP00000432232:Q68H;ENSP00000436655:Q68H;ENSP00000431951:Q68H	ENSP00000284486:Q68H	Q	-	3	2	FAM167A	11339127	0.092000	0.21681	0.031000	0.17742	0.063000	0.16089	0.142000	0.16096	0.682000	0.31407	0.655000	0.94253	CAG		0.692	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			4	124	1	0	1	1	1	4	124				
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1693-1695)cAg>cTg		transmembrane and coiled-coil domain family 1							79.0	76.0	77.0					3																	129370592		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370592T>A	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1694A>T	3.37:g.129370592T>A	ENSP00000376930:p.Gln565Leu					TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L	p.Q565L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2034	-			565					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1694A>T	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.1509	0.72696	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		0.572	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	168	0	0	0	1	0	4	168				
ZNF512B	57473	broad.mit.edu	37	20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(793-795)Ccg>Tcg		zinc finger protein 512B							380.0	396.0	391.0					20																	62597735		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62597735G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.793C>T	20.37:g.62597735G>A	ENSP00000393795:p.Pro265Ser					ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S	p.P265S			Q96KM6	Z512B_HUMAN			5	853	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		265					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.793C>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123279	0.06795	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.25414	1.8;1.8;1.8	4.55	0.0704	0.14378	.	0.871399	0.09535	N	0.788968	T	0.14056	0.0340	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31475	-0.9942	10	0.62326	D	0.03	-4.9126	1.5918	0.02656	0.1931:0.1639:0.4745:0.1684	.	265	Q96KM6	Z512B_HUMAN	S	265	ENSP00000358904:P265S;ENSP00000393795:P265S;ENSP00000217130:P265S	ENSP00000217130:P265S	P	-	1	0	ZNF512B	62068179	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	0.302000	0.19192	0.133000	0.18654	0.650000	0.86243	CCG		0.572	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		7	894	0	0	0	1	0	7	894				
SMC1B	27127	broad.mit.edu	37	22	45757767	45757767	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr22:45757767A>G	ENST00000357450.4	-	17	2659	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	887					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGAGTTTGAACTTTCTCGGC	0.418																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2659-2661)gTt>gCt		structural maintenance of chromosomes 1B							198.0	182.0	187.0					22																	45757767		1906	4134	6040	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45757767A>G	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2660T>C	22.37:g.45757767A>G	ENSP00000350036:p.Val887Ala					SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	17	2659	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	887					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2660T>C	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	A	7.568	0.666173	0.14710	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.78707	-1.2;-1.04	5.31	0.741	0.18336	.	1.154360	0.06517	N	0.739029	T	0.43678	0.1258	N	0.00554	-1.385	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33394	-0.9870	10	0.10377	T	0.69	.	7.718	0.28715	0.3917:0.1322:0.4761:0.0	.	887;887	Q8NDV3-2;Q8NDV3-3	.;.	A	887	ENSP00000350036:V887A;ENSP00000385902:V887A	ENSP00000350036:V887A	V	-	2	0	SMC1B	44136431	0.328000	0.24687	0.403000	0.26384	0.921000	0.55340	0.708000	0.25719	0.040000	0.15660	0.533000	0.62120	GTT		0.418	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		19	332	0	0	0	1	0	19	332				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	221	0	0	0	1	0	5	221				
SLC27A2	11001	broad.mit.edu	37	15	50526124	50526124	+	Missense_Mutation	SNP	G	G	A	rs541651560	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr15:50526124G>A	ENST00000267842.5	+	9	1847	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R|SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	539					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGAATTTGATGGAAAGAAACT	0.378																																						ENST00000267842.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1615-1617)Gga>Aga		solute carrier family 27 (fatty acid transporter), member 2							115.0	111.0	112.0					15																	50526124		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50526124G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1615G>A	15.37:g.50526124G>A	ENSP00000267842:p.Gly539Arg					SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R	p.G539R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	9	1847	+		all_lung(180;0.00177)	539					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.1615G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784697	0.49997	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.56444	0.46;0.46;0.46	5.93	5.93	0.95920	.	0.158802	0.53938	D	0.000045	T	0.71117	0.3302	M	0.77313	2.365	0.53005	D	0.999961	P;D	0.62365	0.935;0.991	P;D	0.64144	0.691;0.922	T	0.66256	-0.5969	10	0.25106	T	0.35	.	17.8477	0.88736	0.0:0.0:1.0:0.0	.	486;539	Q6PF09;O14975	.;S27A2_HUMAN	R	486;539;304	ENSP00000370289:G486R;ENSP00000267842:G539R;ENSP00000444549:G304R	ENSP00000267842:G539R	G	+	1	0	SLC27A2	48313416	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	5.092000	0.64511	2.826000	0.97356	0.655000	0.94253	GGA		0.378	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		23	123	0	0	0	1	0	23	123				
DFNB31	25861	broad.mit.edu	37	9	117240942	117240942	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:117240942C>T	ENST00000362057.3	-	2	896	c.728G>A	c.(727-729)aGc>aAc	p.S243N	DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N|DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	243					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGAGATGCTGCGGCCCTG	0.677																																						ENST00000362057.3																			0				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(727-729)aGc>aAc		deafness, autosomal recessive 31							35.0	34.0	34.0					9																	117240942		2203	4300	6503	SO:0001583	missense	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117240942C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.728G>A	9.37:g.117240942C>T	ENSP00000354623:p.Ser243Asn					DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N|DFNB31_ENST00000265134.6_5'UTR	p.S243N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN			2	896	-			243					A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	ENST00000362057.3	37	c.728G>A	CCDS6806.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.062810	0.76187	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.19105	3.0;2.17	5.41	5.41	0.78517	PDZ/DHR/GLGF (1);	0.080279	0.85682	D	0.000000	T	0.43389	0.1245	M	0.67953	2.075	0.58432	D	0.999996	D;P;P	0.63880	0.993;0.701;0.568	P;B;B	0.60886	0.88;0.388;0.297	T	0.12811	-1.0533	10	0.37606	T	0.19	-45.2798	19.2001	0.93708	0.0:1.0:0.0:0.0	.	243;243;243	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	N	243	ENSP00000354623:S243N;ENSP00000363170:S243N	ENSP00000354623:S243N	S	-	2	0	DFNB31	116280763	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.421000	0.80204	2.533000	0.85409	0.455000	0.32223	AGC		0.677	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		7	34	0	0	0	1	0	7	34				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			66	122	0	0	0	1	0	66	122				
ENOX1	55068	broad.mit.edu	37	13	43918782	43918782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:43918782C>T	ENST00000261488.6	-	9	1505	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T|ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	310					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGCTGTTGGCCGACTGCACC	0.488																																						ENST00000261488.6																			0				breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(928-930)Gcc>Acc		ecto-NOX disulfide-thiol exchanger 1							113.0	110.0	111.0					13																	43918782		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43918782C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.928G>A	13.37:g.43918782C>T	ENSP00000261488:p.Ala310Thr					ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T|ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T	p.A310T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	9	1505	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	310					A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.928G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067796	0.55539	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.41400	1.0;1.0	5.92	5.92	0.95590	.	0.099088	0.64402	D	0.000002	T	0.36413	0.0966	L	0.27053	0.805	0.51012	D	0.999909	P;P	0.48834	0.746;0.916	P;B	0.45610	0.487;0.409	T	0.05666	-1.0871	10	0.07990	T	0.79	-2.9561	20.3214	0.98679	0.0:1.0:0.0:0.0	.	123;310	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	T	310;310;123	ENSP00000261488:A310T;ENSP00000415054:A310T	ENSP00000261488:A310T	A	-	1	0	ENOX1	42816782	0.989000	0.36119	0.993000	0.49108	0.990000	0.78478	2.896000	0.48656	2.804000	0.96469	0.655000	0.94253	GCC		0.488	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		5	258	0	0	0	1	0	5	258				
ZC3H3	23144	broad.mit.edu	37	8	144522390	144522390	+	Missense_Mutation	SNP	G	G	T	rs267601811		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144522390G>T	ENST00000262577.5	-	11	2667	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			aggggatgaggaggaggagga	0.657																																						ENST00000262577.5																			1	Substitution - Missense(1)	p.S879F(1)	skin(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2635-2637)tCc>tAc		zinc finger CCCH-type containing 3							30.0	29.0	29.0					8																	144522390		2203	4298	6501	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144522390G>T	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2636C>A	8.37:g.144522390G>T	ENSP00000262577:p.Ser879Tyr						p.S879Y	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		11	2667	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		879			Poly-Ser.		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.2636C>A	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263668	0.59431	.	.	ENSG00000014164	ENST00000262577	T	0.58210	0.35	4.04	4.04	0.47022	.	0.788333	0.10701	N	0.643991	T	0.45716	0.1356	L	0.27053	0.805	0.09310	N	1	P	0.50943	0.94	P	0.44860	0.462	T	0.37244	-0.9714	10	0.66056	D	0.02	-3.2232	12.9046	0.58145	0.0:0.0:1.0:0.0	.	879	Q8IXZ2	ZC3H3_HUMAN	Y	879	ENSP00000262577:S879Y	ENSP00000262577:S879Y	S	-	2	0	ZC3H3	144593533	0.025000	0.19082	0.006000	0.13384	0.122000	0.20287	2.137000	0.42130	1.831000	0.53308	0.467000	0.42956	TCC		0.657	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		3	23	1	0	0.004672	1	0.00480178	3	23				
LGALS4	3960	broad.mit.edu	37	19	39299489	39299489	+	Silent	SNP	C	C	T	rs201783709	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:39299489C>T	ENST00000307751.4	-	3	711	c.234G>A	c.(232-234)acG>acA	p.T78T	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCTGCAACGTGTTGAAGA	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		16861	0.002		0.0	False		,,,				2504	0.0					ENST00000307751.4																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(232-234)acG>acA		lectin, galactoside-binding, soluble, 4							154.0	120.0	132.0					19																	39299489		2203	4300	6503	SO:0001819	synonymous_variant	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299489C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.234G>A	19.37:g.39299489C>T						LGALS4_ENST00000597803.1_Intron	p.T78T	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	711	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		78			Galectin 1.			Silent	SNP	ENST00000307751.4	37	c.234G>A	CCDS12521.1																																																																																				0.582	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		6	143	0	0	0	1	0	6	143				
NRSN2	80023	broad.mit.edu	37	20	330364	330364	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:330364G>A	ENST00000382291.3	+	3	317	c.77G>A	c.(76-78)cGc>cAc	p.R26H	NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H|RP5-1103G7.4_ENST00000442637.1_RNA|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000608736.1_Missense_Mutation_p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	26						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TATGGGGTCCGCTCCTACCTG	0.662																																						ENST00000382291.3																			0				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8						c.(76-78)cGc>cAc		neurensin 2							59.0	55.0	56.0					20																	330364		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:330364G>A	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.77G>A	20.37:g.330364G>A	ENSP00000371728:p.Arg26His					NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H	p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN			3	317	+		all_cancers(10;0.0834)	26					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.77G>A	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697864	0.48307	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.25250	1.81;1.81	4.31	3.35	0.38373	.	0.231554	0.37483	N	0.002078	T	0.39784	0.1091	M	0.74647	2.275	0.32508	N	0.53788	D	0.69078	0.997	P	0.56343	0.796	T	0.54781	-0.8242	10	0.72032	D	0.01	-4.7745	7.1266	0.25475	0.1258:0.0:0.8742:0.0	.	26	Q9GZP1	NRSN2_HUMAN	H	26	ENSP00000371728:R26H;ENSP00000371722:R26H	ENSP00000371722:R26H	R	+	2	0	NRSN2	278364	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	2.425000	0.44723	0.984000	0.38629	0.643000	0.83706	CGC		0.662	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		20	120	0	0	0	1	0	20	120				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	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		5	97	0	0	0	1	0	5	97				
LRRC2	79442	broad.mit.edu	37	3	46568977	46568977	+	Missense_Mutation	SNP	C	C	T	rs201670997	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:46568977C>T	ENST00000395905.3	-	7	1260	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	290										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCCCCACTGACGACTAACAGA	0.483													C|||	2	0.000399361	0.0	0.0	5008	,	,		19246	0.002		0.0	False		,,,				2504	0.0					ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(868-870)Gtc>Atc		leucine rich repeat containing 2							101.0	97.0	98.0					3																	46568977		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46568977C>T	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.868G>A	3.37:g.46568977C>T	ENSP00000379241:p.Val290Ile					LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	7	1260	-		Ovarian(412;0.0563)	290					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.868G>A	CCDS2741.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.39	3.109008	0.56398	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.22134	1.97;1.97	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000006	T	0.30103	0.0754	N	0.20685	0.6	0.52501	D	0.999954	D	0.69078	0.997	D	0.70487	0.969	T	0.04509	-1.0946	10	0.37606	T	0.19	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	290	Q9BYS8	LRRC2_HUMAN	I	290	ENSP00000379241:V290I;ENSP00000296144:V290I	ENSP00000296144:V290I	V	-	1	0	LRRC2	46543981	1.000000	0.71417	0.965000	0.40720	0.909000	0.53808	6.486000	0.73629	2.482000	0.83794	0.650000	0.86243	GTC		0.483	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			51	89	0	0	0	1	0	51	89				
MAGI3	260425	broad.mit.edu	37	1	114215354	114215354	+	Silent	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:114215354G>A	ENST00000307546.9	+	18	3111	c.3036G>A	c.(3034-3036)cgG>cgA	p.R1012R	MAGI3_ENST00000369615.1_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000369611.4_Silent_p.R1012R	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1037					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGCAGTCGGCACAATCAGG	0.423																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3034-3036)cgG>cgA		membrane associated guanylate kinase, WW and PDZ domain containing 3							187.0	187.0	187.0					1																	114215354		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215354G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3036G>A	1.37:g.114215354G>A						MAGI3_ENST00000369611.4_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000307546.9_Silent_p.R1012R	p.R1012R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	3098	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1037					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3036G>A	CCDS44196.1																																																																																				0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		5	418	0	0	0	1	0	5	418				
RPN1	6184	broad.mit.edu	37	3	128344776	128344776	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:128344776G>A	ENST00000296255.3	-	7	1264	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	RPN1_ENST00000497289.1_Missense_Mutation_p.R234C|RPN1_ENST00000490166.1_5'Flank	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	406					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ATCACAGGGCGGCCAAATGTG	0.478			T	EVI1	AML																																	ENST00000296255.3				Dom	yes		3	3q21.3-q25.2	6184	T	ribophorin I			L	EVI1		AML		0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13						c.(1216-1218)Cgc>Tgc		ribophorin I							135.0	124.0	128.0					3																	128344776		2203	4300	6503	SO:0001583	missense	6184				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:128344776G>A		CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1216C>T	3.37:g.128344776G>A	ENSP00000296255:p.Arg406Cys					RPN1_ENST00000497289.1_Missense_Mutation_p.R234C	p.R406C	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	7	1264	-			406					B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	ENST00000296255.3	37	c.1216C>T	CCDS3051.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502305	0.85176	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.53	5.53	0.82687	.	0.051604	0.85682	D	0.000000	D	0.87216	0.6122	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90163	0.4229	9	0.87932	D	0	-12.2075	19.4694	0.94956	0.0:0.0:1.0:0.0	.	406	P04843	RPN1_HUMAN	C	406;234;177;380	.	ENSP00000296255:R406C	R	-	1	0	RPN1	129827466	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.788000	0.62439	2.587000	0.87381	0.591000	0.81541	CGC		0.478	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356934.2	NM_002950		55	81	0	0	0	1	0	55	81				
NPC1L1	29881	broad.mit.edu	37	7	44571716	44571716	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:44571716G>A	ENST00000289547.4	-	9	2565	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	837					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGAAGGGGGCATAAGCCTT	0.647																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2509-2511)gCc>gTc		NPC1-like 1	Ezetimibe(DB00973)						68.0	64.0	66.0					7																	44571716		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44571716G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2510C>T	7.37:g.44571716G>A	ENSP00000289547:p.Ala837Val					NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V	p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			9	2565	-			837					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.2510C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	N	0.276	-0.989574	0.02162	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.94497	-3.39;-3.39;-3.44	4.29	-3.03	0.05429	.	0.721854	0.13114	N	0.412783	D	0.88683	0.6503	L	0.37800	1.135	0.09310	N	1	B;B;B	0.14805	0.011;0.009;0.001	B;B;B	0.17979	0.018;0.02;0.002	T	0.74811	-0.3538	10	0.51188	T	0.08	-0.8491	7.7043	0.28640	0.5234:0.1136:0.363:0.0	.	837;837;837	B7ZLE6;Q17RV5;D3DVK9	.;.;.	V	837	ENSP00000289547:A837V;ENSP00000370552:A837V;ENSP00000438033:A837V	ENSP00000289547:A837V	A	-	2	0	NPC1L1	44538241	0.038000	0.19896	0.000000	0.03702	0.039000	0.13416	0.426000	0.21363	-1.370000	0.02144	-1.786000	0.00637	GCC		0.647	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		4	140	0	0	0	1	0	4	140				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	53	1	0	0.004672	1	0.00480178	3	53				
KIAA0226L	80183	broad.mit.edu	37	13	46919668	46919668	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:46919668C>T	ENST00000429979.1	-	13	2303	c.1699G>A	c.(1699-1701)Gac>Aac	p.D567N	KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D432N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D567N|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D410N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D410N|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D500N	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	567										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						CTGACCAGGTCCTCAAGGGAG	0.532																																						ENST00000429979.1																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(1699-1701)Gac>Aac		KIAA0226-like							52.0	53.0	53.0					13																	46919668		2014	4167	6181	SO:0001583	missense	80183							g.chr13:46919668C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.1699G>A	13.37:g.46919668C>T	ENSP00000396935:p.Asp567Asn					KIAA0226L_ENST00000409879.2_Missense_Mutation_p.D410N|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.D500N|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.D567N|KIAA0226L_ENST00000378787.3_Intron|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.D432N|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.D410N	p.D567N	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN			13	2303	-			567					A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.1699G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	34	5.348567	0.95807	.	.	ENSG00000102445	ENST00000429979;ENST00000378784;ENST00000389908;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T	0.68903	-0.36;-0.33;-0.36;-0.26	5.35	5.35	0.76521	.	.	.	.	.	D	0.85965	0.5820	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;0.998;0.986	D;D;D;D;D	0.91635	0.987;0.987;0.999;0.986;0.988	D	0.89090	0.3482	9	0.87932	D	0	-15.9348	18.0651	0.89388	0.0:1.0:0.0:0.0	.	410;410;567;432;500	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3	.;.;K226L_HUMAN;.;.	N	567;500;567;410;410;432	ENSP00000396935:D567N;ENSP00000368061:D500N;ENSP00000374558:D567N;ENSP00000437501:D432N	ENSP00000315633:D410N	D	-	1	0	KIAA0226L	45817669	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.019000	0.76412	2.491000	0.84063	0.655000	0.94253	GAC		0.532	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	NM_025113		5	25	0	0	0	1	0	5	25				
ANK3	288	broad.mit.edu	37	10	61830854	61830854	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:61830854G>A	ENST00000280772.2	-	37	9976	c.9785C>T	c.(9784-9786)gCg>gTg	p.A3262V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3262					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCTGGTCCGCATCCAGTGG	0.438																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9784-9786)gCg>gTg		ankyrin 3, node of Ranvier (ankyrin G)							175.0	169.0	171.0					10																	61830854		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830854G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9785C>T	10.37:g.61830854G>A	ENSP00000280772:p.Ala3262Val					ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.A3262V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9976	-			3262					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9785C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016230	0.35606	.	.	ENSG00000151150	ENST00000280772	T	0.62639	0.01	5.48	5.48	0.80851	.	0.175198	0.27223	N	0.020360	T	0.44350	0.1289	N	0.22421	0.69	0.80722	D	1	P	0.36483	0.555	B	0.22152	0.038	T	0.48234	-0.9053	10	0.42905	T	0.14	.	14.9101	0.70749	0.0:0.1428:0.8571:0.0	.	3262	Q12955	ANK3_HUMAN	V	3262	ENSP00000280772:A3262V	ENSP00000280772:A3262V	A	-	2	0	ANK3	61500860	1.000000	0.71417	0.984000	0.44739	0.948000	0.59901	5.512000	0.67030	2.584000	0.87258	0.561000	0.74099	GCG		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	405	0	0	0	1	0	6	405				
SPEF2	79925	broad.mit.edu	37	5	35691228	35691228	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr5:35691228G>T	ENST00000356031.3	+	11	1768	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.R538S|SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	538					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTCACAGGCTAGCTGAAA	0.413																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(1612-1614)agG>agT		sperm flagellar 2							129.0	125.0	126.0					5																	35691228		1873	4094	5967	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35691228G>T	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1614G>T	5.37:g.35691228G>T	ENSP00000348314:p.Arg538Ser					SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.R538S	p.R538S			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		11	1614	+	all_lung(31;7.56e-05)		538					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1614G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704529	0.30232	.	.	ENSG00000152582	ENST00000356031;ENST00000509059;ENST00000440995;ENST00000504054	T;T;T;T	0.36520	3.25;3.13;3.25;1.25	5.6	-1.12	0.09808	.	0.135381	0.48767	D	0.000169	T	0.46405	0.1391	M	0.78637	2.42	0.20196	N	0.99993	P;D;P	0.56035	0.92;0.974;0.956	B;P;P	0.54372	0.386;0.75;0.567	T	0.43750	-0.9372	10	0.44086	T	0.13	.	9.563	0.39380	0.6692:0.0:0.3308:0.0	.	538;538;538	D6REZ4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	S	538;538;538;49	ENSP00000348314:R538S;ENSP00000421593:R538S;ENSP00000412125:R538S;ENSP00000421744:R49S	ENSP00000348314:R538S	R	+	3	2	SPEF2	35726985	0.998000	0.40836	0.081000	0.20488	0.016000	0.09150	1.571000	0.36450	-0.395000	0.07715	-0.966000	0.02617	AGG		0.413	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		9	200	1	0	7.48243e-07	1	7.91e-07	9	200				
TSEN2	80746	broad.mit.edu	37	3	12544759	12544759	+	Splice_Site	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:12544759A>G	ENST00000284995.6	+	5	695		c.e5-1		TSEN2_ENST00000454502.2_Splice_Site|RNU6-404P_ENST00000515968.1_RNA|TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000444864.1_Splice_Site	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGTCTTGCAGGTATCAGCA	0.433																																						ENST00000444864.1																			0				central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						c.e5-1		TSEN2 tRNA splicing endonuclease subunit							82.0	80.0	81.0					3																	12544759		2203	4300	6503	SO:0001630	splice_region_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12544759A>G	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.309-1A>G	3.37:g.12544759A>G						TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000284995.6_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site		NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN			5	695	+								B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Splice_Site	SNP	ENST00000284995.6	37		CCDS2611.1	.	.	.	.	.	.	.	.	.	.	A	10.29	1.308952	0.23821	.	.	ENSG00000154743	ENST00000446004;ENST00000314571;ENST00000454502;ENST00000383797;ENST00000402228;ENST00000284995;ENST00000444864;ENST00000537959;ENST00000415684	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2732	0.49150	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSEN2	12519759	1.000000	0.71417	0.991000	0.47740	0.177000	0.22998	5.104000	0.64584	1.981000	0.57761	0.496000	0.49642	.		0.433	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265	Intron	5	133	0	0	0	1	0	5	133				
TOP1MT	116447	broad.mit.edu	37	8	144406702	144406702	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144406702G>C	ENST00000329245.4	-	6	803	c.769C>G	c.(769-771)Cag>Gag	p.Q257E	TOP1MT_ENST00000523676.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	257					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ATGGAGTTCTGAACGCTCTCG	0.627																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(475-477)Cag>Gag		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						132.0	111.0	118.0					8																	144406702		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144406702G>C	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.769C>G	8.37:g.144406702G>C	ENSP00000328835:p.Gln257Glu					TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q257E|TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E	p.Q159E			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		7	880	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		257					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.475C>G	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198087	0.38806	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676;ENST00000522041;ENST00000519591	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	3.55	3.55	0.40652	DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type (1);DNA topoisomerase I, DNA binding, eukaryotic-type (2);	0.195954	0.25122	U	0.032962	T	0.59293	0.2183	M	0.87180	2.865	0.58432	D	0.999999	D;D	0.59357	0.985;0.971	P;P	0.52159	0.691;0.572	T	0.69548	-0.5116	10	0.56958	D	0.05	.	14.1225	0.65198	0.0:0.0:1.0:0.0	.	52;257	E7ESI1;Q969P6	.;TOP1M_HUMAN	E	257;159;159;159;159;159	ENSP00000328835:Q257E;ENSP00000428369:Q159E;ENSP00000429169:Q159E;ENSP00000429181:Q159E;ENSP00000427998:Q159E;ENSP00000429177:Q159E	ENSP00000328835:Q257E	Q	-	1	0	TOP1MT	144478077	1.000000	0.71417	0.154000	0.22540	0.005000	0.04900	8.052000	0.89448	1.495000	0.48549	0.609000	0.83330	CAG		0.627	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		23	201	0	0	0	1	0	23	201				
KLF6	1316	broad.mit.edu	37	10	3824266	3824266	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:3824266T>C	ENST00000497571.1	-	2	503	c.243A>G	c.(241-243)atA>atG	p.I81M	KLF6_ENST00000469435.1_Missense_Mutation_p.I81M|KLF6_ENST00000173785.4_5'Flank|KLF6_ENST00000542957.1_Missense_Mutation_p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	81					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACTGGAAGATATCTTCAGTT	0.468											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000497571.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(241-243)atA>atG		Kruppel-like factor 6							151.0	162.0	158.0					10																	3824266		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824266T>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.243A>G	10.37:g.3824266T>C	ENSP00000419923:p.Ile81Met		OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_ENST00000542957.1_Missense_Mutation_p.I81M|KLF6_ENST00000469435.1_Missense_Mutation_p.I81M	p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	503	-			81					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.243A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	1.317	-0.600452	0.03744	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.54279	3.36;0.58;0.8	4.91	-2.59	0.06209	.	0.961544	0.08686	N	0.908728	T	0.40546	0.1121	L	0.57536	1.79	0.09310	N	1	B;B;B;B	0.28258	0.087;0.004;0.038;0.205	B;B;B;B	0.24541	0.043;0.011;0.054;0.047	T	0.29058	-1.0024	10	0.41790	T	0.15	.	2.7015	0.05149	0.4112:0.3438:0.136:0.109	.	81;81;81;81	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	M	81	ENSP00000419923:I81M;ENSP00000445301:I81M;ENSP00000419079:I81M	ENSP00000419079:I81M	I	-	3	3	KLF6	3814266	0.859000	0.29813	0.001000	0.08648	0.150000	0.21749	0.401000	0.20948	-0.806000	0.04398	-1.646000	0.00762	ATA		0.468	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			13	320	0	0	0	1	0	13	320				
NCOA3	8202	broad.mit.edu	37	20	46281698	46281698	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:46281698C>T	ENST00000371998.3	+	22	4336	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V	NCOA3_ENST00000372004.3_Missense_Mutation_p.A1378V|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1382					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGCAGTTTGCCCACCAGGGG	0.478																																						ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(4132-4134)gCc>gTc		nuclear receptor coactivator 3							136.0	129.0	131.0					20																	46281698		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46281698C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4145C>T	20.37:g.46281698C>T	ENSP00000361066:p.Ala1382Val					NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V|NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1382V	p.A1378V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			22	4349	+			1382					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.4133C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115005	0.56505	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02323	4.38;4.56;4.56;4.34	5.87	4.87	0.63330	.	0.325655	0.29438	N	0.012150	T	0.03915	0.0110	L	0.36672	1.1	0.31805	N	0.627943	P;B;B;P;P	0.39940	0.57;0.354;0.354;0.696;0.57	B;B;B;B;B	0.40602	0.334;0.179;0.179;0.333;0.334	T	0.11470	-1.0586	10	0.46703	T	0.11	-14.3917	13.8499	0.63489	0.0:0.6804:0.3196:0.0	.	1382;1385;1377;1378;1382	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	V	1378;1308;1378;1382;1373	ENSP00000342123:A1308V;ENSP00000361073:A1378V;ENSP00000361066:A1382V;ENSP00000361065:A1373V	ENSP00000345671:A1378V	A	+	2	0	NCOA3	45715105	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.368000	0.52357	2.785000	0.95823	0.655000	0.94253	GCC		0.478	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	240	0	0	0	1	0	4	240				
AHR	196	broad.mit.edu	37	7	17379702	17379702	+	Silent	SNP	A	A	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:17379702A>T	ENST00000242057.4	+	10	2896	c.2253A>T	c.(2251-2253)ggA>ggT	p.G751G		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	751					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	AAAAGCATGGATTAAATCCAC	0.463																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(2251-2253)ggA>ggT		aryl hydrocarbon receptor							117.0	116.0	116.0					7																	17379702		2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379702A>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.2253A>T	7.37:g.17379702A>T							p.G751G	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2896	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		751					A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.2253A>T	CCDS5366.1																																																																																				0.463	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		44	232	0	0	0	1	0	44	232				
PCDH7	5099	broad.mit.edu	37	4	30725788	30725788	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:30725788G>A	ENST00000361762.2	+	1	3752	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	915					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TATGAAGCCGGCAAAAAAGAT	0.388																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(2743-2745)gGc>gAc		protocadherin 7							85.0	88.0	87.0					4																	30725788		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725788G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2744G>A	4.37:g.30725788G>A	ENSP00000355243:p.Gly915Asp					PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	3752	+			915					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2744G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525853	0.64860	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.36878	1.23;1.23	5.16	5.16	0.70880	Protocadherin (1);	.	.	.	.	T	0.59810	0.2221	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.61598	-0.7030	9	0.72032	D	0.01	.	18.8391	0.92174	0.0:0.0:1.0:0.0	.	915;868;915	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	D	915;915;868	ENSP00000355243:G915D;ENSP00000441802:G915D	ENSP00000330302:G868D	G	+	2	0	PCDH7	30334886	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.263000	0.95617	2.683000	0.91414	0.655000	0.94253	GGC		0.388	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		4	196	0	0	0	1	0	4	196				
GRIN2A	2903	broad.mit.edu	37	16	9858072	9858072	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:9858072G>A	ENST00000396573.2	-	14	3638	c.3329C>T	c.(3328-3330)tCa>tTa	p.S1110L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1110					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGGGGAGCTTGATTTGGTTTT	0.478																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3328-3330)tCa>tTa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						146.0	141.0	143.0					16																	9858072		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858072G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3329C>T	16.37:g.9858072G>A	ENSP00000379818:p.Ser1110Leu					GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L	p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3638	-			1110					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3329C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400281	0.25291	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11169	2.81;2.8;2.8;2.81;2.81	5.33	3.29	0.37713	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.328520	0.36268	N	0.002693	T	0.05181	0.0138	N	0.08118	0	0.21967	N	0.999447	B;B;B	0.20261	0.014;0.043;0.001	B;B;B	0.24006	0.03;0.05;0.005	T	0.43081	-0.9413	9	.	.	.	.	8.3276	0.32167	0.0:0.2575:0.4724:0.2701	.	953;1110;1110	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	1110;1110;953;1110;1110	ENSP00000379818:S1110L;ENSP00000385872:S1110L;ENSP00000441572:S953L;ENSP00000332549:S1110L;ENSP00000379820:S1110L	.	S	-	2	0	GRIN2A	9765573	0.864000	0.29904	0.856000	0.33681	0.970000	0.65996	1.113000	0.31184	0.583000	0.29574	0.585000	0.79938	TCA		0.478	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			34	212	0	0	0	1	0	34	212				
FOLH1	2346	broad.mit.edu	37	11	49179537	49179537	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:49179537T>C	ENST00000256999.2	-	14	1759	c.1499A>G	c.(1498-1500)aAa>aGa	p.K500R	FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R|FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000340334.7_Missense_Mutation_p.K485R	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	500	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGAAGGACTTTTTTTAGTCCA	0.353																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(1453-1455)aAa>aGa		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						64.0	65.0	65.0					11																	49179537		2201	4297	6498	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49179537T>C	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1499A>G	11.37:g.49179537T>C	ENSP00000256999:p.Lys500Arg					FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K500R	p.K485R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			15	1822	-			500			NAALADase.		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.1454A>G	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	T	7.266	0.606262	0.14002	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034;ENST00000389724	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	3.5	3.5	0.40072	.	0.000000	0.56097	D	0.000022	T	0.24928	0.0605	N	0.25094	0.71	0.39015	D	0.959626	B;B;B;B	0.25809	0.086;0.135;0.006;0.003	B;B;B;B	0.26864	0.065;0.074;0.014;0.019	T	0.06899	-1.0801	10	0.09590	T	0.72	.	10.2448	0.43334	0.0:0.0:0.0:1.0	.	485;485;500;500	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	R	500;500;485;192;485;503	ENSP00000256999:K500R;ENSP00000349129:K500R;ENSP00000344131:K485R;ENSP00000344086:K192R;ENSP00000431463:K485R	ENSP00000256999:K500R	K	-	2	0	FOLH1	49136113	1.000000	0.71417	0.817000	0.32601	0.716000	0.41182	4.177000	0.58276	1.592000	0.50018	0.338000	0.21704	AAA		0.353	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		25	167	0	0	0	1	0	25	167				
AADACL3	126767	broad.mit.edu	37	1	12779671	12779671	+	Silent	SNP	C	C	T	rs180881839		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:12779671C>T	ENST00000359318.5	+	2	397	c.192C>T	c.(190-192)ggC>ggT	p.G64G	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	64							hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACGGTGGCGGGGGCGTCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17928	0.0		0.001	False		,,,				2504	0.0					ENST00000359318.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15						c.(190-192)ggC>ggT		arylacetamide deacetylase-like 3							70.0	72.0	71.0					1																	12779671		1928	4135	6063	SO:0001819	synonymous_variant	126767						hydrolase activity	g.chr1:12779671C>T		CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984			32037	protein-coding gene	gene with protein product							Standard	XM_006710337		Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.192C>T	1.37:g.12779671C>T						AADACL3_ENST00000332530.3_Intron	p.G64G	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	2	397	+	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	64					B3KXR9|Q5VUY1	Silent	SNP	ENST00000359318.5	37	c.192C>T	CCDS41253.1																																																																																				0.537	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005324.2	NM_001103170		4	161	0	0	0	1	0	4	161				
RUSC2	9853	broad.mit.edu	37	9	35555653	35555653	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:35555653G>A	ENST00000455600.1	+	3	3180	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	871						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGAGCCTGGCCCGGGGAGG	0.627																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2611-2613)Gcc>Acc		RUN and SH3 domain containing 2							33.0	35.0	34.0					9																	35555653		2203	4299	6502	SO:0001583	missense	9853					cytosol		g.chr9:35555653G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2611G>A	9.37:g.35555653G>A	ENSP00000393922:p.Ala871Thr						p.A871T	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	3180	+			871					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.2611G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821230	0.16678	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22539	1.95;1.95	4.14	1.22	0.21188	.	0.798511	0.11883	N	0.520335	T	0.10078	0.0247	N	0.08118	0	0.22873	N	0.998624	B	0.10296	0.003	B	0.06405	0.002	T	0.28138	-1.0053	10	0.52906	T	0.07	-1.5265	6.4137	0.21705	0.3266:0.0:0.6734:0.0	.	871	Q8N2Y8	RUSC2_HUMAN	T	871	ENSP00000355177:A871T;ENSP00000393922:A871T	ENSP00000355177:A871T	A	+	1	0	RUSC2	35545653	0.983000	0.35010	0.998000	0.56505	0.983000	0.72400	1.834000	0.39171	0.145000	0.18977	-0.142000	0.14014	GCC		0.627	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		13	73	0	0	0	1	0	13	73				
GLTSCR1L	23506	broad.mit.edu	37	6	42832831	42832831	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42832831C>G	ENST00000314073.5	+	13	3063	c.2887C>G	c.(2887-2889)Cac>Gac	p.H963D	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H963D			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	963																	AGCAGATTCGCACTTGGAGAT	0.498																																						ENST00000314073.5																			0											c.(2887-2889)Cac>Gac		GLTSCR1-like							76.0	75.0	76.0					6																	42832831		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42832831C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2887C>G	6.37:g.42832831C>G	ENSP00000313933:p.His963Asp					GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.H963D	p.H963D							13	3063	+								A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.2887C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	9.552	1.116114	0.20795	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.42513	0.97;0.97	5.34	5.34	0.76211	.	0.424426	0.24922	N	0.034533	T	0.11665	0.0284	N	0.24115	0.695	0.25115	N	0.990689	B	0.18310	0.027	B	0.13407	0.009	T	0.03175	-1.1064	10	0.34782	T	0.22	-7.6434	5.7803	0.18301	0.1895:0.6937:0.0:0.1168	.	963	Q6AI39	K0240_HUMAN	D	963	ENSP00000313933:H963D;ENSP00000377723:H963D	ENSP00000313933:H963D	H	+	1	0	KIAA0240	42940809	0.857000	0.29778	0.435000	0.26784	0.938000	0.57974	1.440000	0.35024	2.651000	0.90000	0.650000	0.86243	CAC		0.498	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		10	101	0	0	0	1	0	10	101				
BSG	682	broad.mit.edu	37	19	580702	580702	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:580702G>A	ENST00000333511.3	+	5	782	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000346916.4_Missense_Mutation_p.A58T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	238	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAGACGGCCATGCTGGT	0.602																																						ENST00000333511.3																			0				central_nervous_system(1)|endometrium(3)|lung(1)	5						c.(712-714)Gcc>Acc		basigin							74.0	70.0	71.0					19																	580702		2200	4299	6499	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:580702G>A	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.712G>A	19.37:g.580702G>A	ENSP00000333769:p.Ala238Thr					BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T|BSG_ENST00000346916.4_Missense_Mutation_p.A58T	p.A238T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	782	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	238			Ig-like V-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.712G>A	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640378	0.67244	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.38722	1.12;1.12;1.12	4.09	0.64	0.17752	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.608014	0.14847	N	0.294915	T	0.50343	0.1610	L	0.61387	1.9	0.09310	N	1	D;D;D;D;D	0.56035	0.967;0.974;0.974;0.974;0.974	P;P;P;P;P	0.57244	0.72;0.604;0.816;0.604;0.604	T	0.37244	-0.9714	10	0.38643	T	0.18	-26.9187	8.8181	0.35009	0.2741:0.0:0.7259:0.0	.	122;238;122;238;58	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	T	58;29;238;122	ENSP00000344707:A58T;ENSP00000333769:A238T;ENSP00000343809:A122T	ENSP00000333769:A238T	A	+	1	0	BSG	531702	0.018000	0.18449	0.000000	0.03702	0.020000	0.10135	1.875000	0.39578	0.296000	0.22592	0.561000	0.74099	GCC		0.602	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2	NM_001728		14	107	0	0	0	1	0	14	107				
SMG1P7	100506060	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388																																						ENST00000581050.1																			0																																																			0							g.chr16:70253871A>G																													16.37:g.70253871A>G								NR_033959.1						0	1619	-									RNA	SNP	ENST00000581050.1	37																																																																																						0.388	RP11-296I10.6-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000441629.1			3	28	0	0	0	1	0	3	28				
LMO7	4008	broad.mit.edu	37	13	76429413	76429413	+	Missense_Mutation	SNP	G	G	A	rs144929980	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:76429413G>A	ENST00000321797.8	+	27	4701	c.3980G>A	c.(3979-3981)cGc>cAc	p.R1327H	LMO7_ENST00000357063.3_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000341547.4_Missense_Mutation_p.R1278H|LMO7_ENST00000465261.2_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1612					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTGGGAAGCGCATATGCTCC	0.453													G|||	14	0.00279553	0.0	0.0	5008	,	,		17479	0.0139		0.0	False		,,,				2504	0.0					ENST00000341547.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3832-3834)cGc>cAc		LIM domain 7							143.0	122.0	129.0					13																	76429413		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76429413G>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3980G>A	13.37:g.76429413G>A	ENSP00000317802:p.Arg1327His					LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000321797.8_Missense_Mutation_p.R1327H|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000357063.3_Intron|LMO7_ENST00000377534.3_Intron	p.R1278H	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	28	5093	+		Breast(118;0.0992)	1612					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3833G>A		8	0.003663003663003663	0	0.0	0	0.0	8	0.013986013986013986	0	0.0	G	23.5	4.417776	0.83449	.	.	ENSG00000136153	ENST00000341547;ENST00000321797;ENST00000526202	T;T;T	0.44881	1.49;0.92;0.91	5.87	5.87	0.94306	.	0.110683	0.56097	D	0.000027	T	0.53238	0.1784	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.69824	0.869;0.966	T	0.61456	-0.7059	10	0.66056	D	0.02	-9.9689	10.2544	0.43388	0.1503:0.0:0.8497:0.0	.	1204;1278	E9PMS6;Q8WWI1-3	.;.	H	1278;1327;1204	ENSP00000342112:R1278H;ENSP00000317802:R1327H;ENSP00000431129:R1204H	ENSP00000317802:R1327H	R	+	2	0	LMO7	75327414	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	5.080000	0.64437	2.780000	0.95670	0.655000	0.94253	CGC		0.453	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		5	97	0	0	0	1	0	5	97				
RNF25	64320	broad.mit.edu	37	2	219529149	219529149	+	Missense_Mutation	SNP	A	A	C	rs370879916		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:219529149A>C	ENST00000295704.2	-	10	1351	c.911T>G	c.(910-912)tTg>tGg	p.L304W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	304					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTGGCAAAGTGGATTG	0.547																																						ENST00000295704.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(910-912)tTg>tGg		ring finger protein 25							88.0	84.0	86.0					2																	219529149		2203	4300	6503	SO:0001583	missense	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529149A>C		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.911T>G	2.37:g.219529149A>C	ENSP00000295704:p.Leu304Trp						p.L304W	NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	10	1351	-		Renal(207;0.0474)	304					A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	c.911T>G	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	A	9.958	1.221975	0.22457	.	.	ENSG00000163481	ENST00000295704	T	0.47869	0.83	5.09	2.65	0.31530	.	0.231241	0.34531	N	0.003883	T	0.38241	0.1033	L	0.44542	1.39	0.09310	N	1	P	0.51653	0.947	P	0.47206	0.541	T	0.27157	-1.0082	10	0.46703	T	0.11	-20.2711	2.2675	0.04082	0.5996:0.1609:0.0848:0.1547	.	304	Q96BH1	RNF25_HUMAN	W	304	ENSP00000295704:L304W	ENSP00000295704:L304W	L	-	2	0	RNF25	219237393	0.001000	0.12720	0.402000	0.26371	0.246000	0.25737	-0.192000	0.09587	0.470000	0.27294	0.459000	0.35465	TTG		0.547	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		26	166	0	0	0	1	0	26	166				
DENND2D	79961	broad.mit.edu	37	1	111743020	111743020	+	Missense_Mutation	SNP	C	C	T	rs202084957		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:111743020C>T	ENST00000357640.4	-	1	291	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	CHI3L2_ENST00000445067.2_5'Flank|DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Intron	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	21					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTGACCTGCTCGGAGTTGAAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20748	0.001		0.0	False		,,,				2504	0.0					ENST00000357640.4																			0				breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(61-63)cGa>cAa		DENN/MADD domain containing 2D		C	GLN/ARG	0,4406		0,0,2203	93.0	73.0	80.0		62	1.4	0.7	1		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	DENND2D	NM_024901.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	21/472	111743020	1,13005	2203	4300	6503	SO:0001583	missense	79961							g.chr1:111743020C>T		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.62G>A	1.37:g.111743020C>T	ENSP00000350266:p.Arg21Gln					DENND2D_ENST00000369752.5_Intron|DENND2D_ENST00000473682.1_5'UTR	p.R21Q	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	1	291	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	21					Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.62G>A	CCDS831.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	10.73	1.431632	0.25813	0.0	1.16E-4	ENSG00000162777	ENST00000357640	T	0.14144	2.53	4.31	1.37	0.22104	.	.	.	.	.	T	0.03827	0.0108	L	0.50333	1.59	0.54753	D	0.99998	P	0.35348	0.496	B	0.20184	0.028	T	0.33879	-0.9851	9	0.51188	T	0.08	0.0113	6.5849	0.22614	0.0:0.5526:0.351:0.0964	.	21	Q9H6A0	DEN2D_HUMAN	Q	21	ENSP00000350266:R21Q	ENSP00000350266:R21Q	R	-	2	0	DENND2D	111544543	0.074000	0.21230	0.713000	0.30519	0.259000	0.26198	0.215000	0.17562	0.352000	0.24053	-0.149000	0.13747	CGA		0.552	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		9	14	0	0	0	1	0	9	14				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	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)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	7	0	0	0	1	0	47	7				
COMP	1311	broad.mit.edu	37	19	18896653	18896653	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:18896653C>T	ENST00000222271.2	-	14	1542	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	COMP_ENST00000425807.1_Missense_Mutation_p.V447M|COMP_ENST00000542601.2_Missense_Mutation_p.V467M	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	500					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACGTCGCCCACGCCGTCCCCT	0.672																																						ENST00000542601.2																			0				breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1399-1401)Gtg>Atg		cartilage oligomeric matrix protein							64.0	56.0	59.0					19																	18896653		2203	4300	6503	SO:0001583	missense	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896653C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1498G>A	19.37:g.18896653C>T	ENSP00000222271:p.Val500Met					COMP_ENST00000222271.2_Missense_Mutation_p.V500M|COMP_ENST00000425807.1_Missense_Mutation_p.V447M	p.V467M			P49747	COMP_HUMAN			13	1788	-			500					B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Missense_Mutation	SNP	ENST00000222271.2	37	c.1399G>A	CCDS12385.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259348	0.80246	.	.	ENSG00000105664	ENST00000542601;ENST00000222271;ENST00000425807;ENST00000454701	D;D;D	0.98822	-5.16;-5.16;-5.16	4.29	4.29	0.51040	.	0.086297	0.47093	U	0.000244	D	0.99199	0.9722	M	0.90759	3.145	0.45139	D	0.998158	D;D	0.89917	0.998;1.0	D;D	0.76575	0.922;0.988	D	0.99123	1.0850	10	0.59425	D	0.04	-19.2329	15.2824	0.73797	0.0:1.0:0.0:0.0	.	447;500	B4DKJ3;P49747	.;COMP_HUMAN	M	467;500;447;487	ENSP00000439156:V467M;ENSP00000222271:V500M;ENSP00000403792:V447M	ENSP00000222271:V500M	V	-	1	0	COMP	18757653	0.989000	0.36119	0.994000	0.49952	0.984000	0.73092	2.728000	0.47319	1.929000	0.55896	0.491000	0.48974	GTG		0.672	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1	NM_000095		35	94	0	0	0	1	0	35	94				
LRRC32	2615	broad.mit.edu	37	11	76371819	76371819	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:76371819G>A	ENST00000407242.2	-	3	1060	c.818C>T	c.(817-819)tCc>tTc	p.S273F	LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	273					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTTGTTGGACAAGTTCAG	0.642																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(817-819)tCc>tTc		leucine rich repeat containing 32							59.0	57.0	57.0					11																	76371819		2200	4292	6492	SO:0001583	missense	2615					integral to plasma membrane		g.chr11:76371819G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.818C>T	11.37:g.76371819G>A	ENSP00000384126:p.Ser273Phe					LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F	p.S273F	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1060	-			273					Q86V06	Missense_Mutation	SNP	ENST00000407242.2	37	c.818C>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233467	0.58886	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995	D;D;D	0.82984	-1.67;-1.67;-1.67	4.55	4.55	0.56014	.	0.130339	0.53938	D	0.000060	D	0.89860	0.6837	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91103	0.4916	10	0.72032	D	0.01	.	17.5031	0.87737	0.0:0.0:1.0:0.0	.	273	Q14392	LRC32_HUMAN	F	273	ENSP00000260061:S273F;ENSP00000384126:S273F;ENSP00000385766:S273F	ENSP00000260061:S273F	S	-	2	0	LRRC32	76049467	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.379000	0.79691	2.371000	0.80710	0.555000	0.69702	TCC		0.642	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		19	112	0	0	0	1	0	19	112				
GCN1L1	10985	broad.mit.edu	37	12	120574422	120574422	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:120574422C>T	ENST00000300648.6	-	51	6904	c.6892G>A	c.(6892-6894)Gcc>Acc	p.A2298T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2298				A -> V (in Ref. 7; AAC51648). {ECO:0000305}.	regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTCAGGGCGTCAGCCGAG	0.622																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(6892-6894)Gcc>Acc		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							60.0	65.0	63.0					12																	120574422		2052	4189	6241	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120574422C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.6892G>A	12.37:g.120574422C>T	ENSP00000300648:p.Ala2298Thr						p.A2298T	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			51	6904	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2298	A -> V (in Ref. 7; AAC51648).				A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.6892G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604068	0.96626	.	.	ENSG00000089154	ENST00000300648	T	0.65916	-0.18	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.058671	0.64402	D	0.000002	T	0.77903	0.4200	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	T	0.78168	-0.2309	10	0.59425	D	0.04	.	19.8555	0.96756	0.0:1.0:0.0:0.0	.	2298	Q92616	GCN1L_HUMAN	T	2298	ENSP00000300648:A2298T	ENSP00000300648:A2298T	A	-	1	0	GCN1L1	119058805	1.000000	0.71417	0.964000	0.40570	0.936000	0.57629	7.298000	0.78815	2.697000	0.92050	0.591000	0.81541	GCC		0.622	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			32	70	0	0	0	1	0	32	70				
SNX32	254122	broad.mit.edu	37	11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	rs147615662	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308342.6																			1	Substitution - Missense(1)	p.R233C(1)	lung(1)	endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(697-699)Cgc>Tgc		sorting nexin 32		C	CYS/ARG	5,4397	9.9+/-24.2	0,5,2196	104.0	104.0	104.0		697	-1.4	0.1	11	dbSNP_134	104	0,8594		0,0,4297	no	missense	SNX32	NM_152760.2	180	0,5,6493	TT,TC,CC		0.0,0.1136,0.0385	possibly-damaging	233/404	65618619	5,12991	2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65618619C>T	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.697C>T	11.37:g.65618619C>T	ENSP00000310620:p.Arg233Cys		OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1085		p.R233C	NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	7	1122	+			233					Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.697C>T	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402618	0.62288	0.001136	0.0	ENSG00000172803	ENST00000308342	T	0.31247	1.5	5.35	-1.38	0.09027	Vps5 C-terminal (1);	0.864072	0.10130	N	0.712211	T	0.28995	0.0720	M	0.78801	2.425	0.33479	D	0.587158	B	0.06786	0.001	B	0.06405	0.002	T	0.31166	-0.9953	10	0.33940	T	0.23	-5.455	4.2597	0.10735	0.2475:0.4607:0.0:0.2918	.	233	Q86XE0	SNX32_HUMAN	C	233	ENSP00000310620:R233C	ENSP00000310620:R233C	R	+	1	0	SNX32	65375195	0.999000	0.42202	0.070000	0.20053	0.878000	0.50629	0.835000	0.27531	-0.096000	0.12329	0.655000	0.94253	CGC		0.632	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		5	293	0	0	0	1	0	5	293				
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:54780707_54780709delGAG	ENST00000391749.4	-	10	1706_1708	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391748.1_In_Frame_Del_p.L478del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	479					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.L479L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611																																						ENST00000391748.1																			1	Substitution - coding silent(1)	p.L479L(1)	lung(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1432-1434)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2																																				SO:0001651	inframe_deletion	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54780707_54780709delGAG	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1435_1437delCTC	19.37:g.54780716_54780718delGAG	ENSP00000375629:p.Leu479del					LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del	p.L478del	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	10	1559_1561	-	Ovarian(34;0.19)		479					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	In_Frame_Del	DEL	ENST00000391749.4	37	c.1432_1434delCTC	CCDS12886.1																																																																																				0.611	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			8	253						8	253	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76918997	76918998	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chrX:76918997_76918998insA	ENST00000373344.5	-	12	4207_4208	c.3993_3994insT	c.(3991-3996)tctaagfs	p.K1332fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1294fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1332					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)	p.?(1)		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						CTTGGCTTCTTAGATTCTTCAG	0.351			"""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"""		1	Unknown(1)	p.?(1)	bone(1)	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.(3991-3996)tcagaafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			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:76918997_76918998insA	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.3994dupT	X.37:g.76918998_76918998dupA	ENSP00000362441:p.Lys1332fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.E1294fs	p.E1332fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4207_4208	-			1332					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3993_3994insT	CCDS14434.1																																																																																				0.351	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		56	13						56	13	---	---	---	---
